Originalarbeiten

2024

• Binder S, Ramachandran H, Haslinger D, Hildebrandt B, Dobner J, Haarmann-Stemmann T, Chiocchetti A, Rossi A. (2024) CRISPR/Cas9-mediated editing of ACTB in induced pluripotent stem cells: A model for investigating human ACTB loss-of-function and genetic adaptive responses. Stem Cell Res. 2024 Mar 19;77:103395. doi: 10.1016/j.scr.2024.103395. Epub ahead of print. PMID: 38518401.
• Binder S, Ramachandran H, Hildebrandt B, Dobner J, Rossi A. (2024) Prime-Editing of human ACTB in induced pluripotent stem cells to model human ACTB Loss-of-Function diseases and compensatory mechanisms. Stem Cell Res. 2024 Mar;75:103304. doi: 10.1016/j.scr.2024.103304. Epub 2024 Jan 3. PMID: 38217996.
• Cheng T, Mariappan A, Langner E, Shim K, Gopalakrishnan J, Mahjoub MR. (2024) Inhibiting centrosome clustering reduces cystogenesis and improves kidney function in autosomal dominant polycystic kidney disease. JCI Insight. 2024 Feb 22;9(4):e172047. doi: 10.1172/jci.insight.172047. PMID: 38385746; PMCID: PMC10967408.
• Fu Y, Kelly JA, Gopalakrishnan J, Pelikan RC, Tessneer KL, Pasula S, Grundahl K, Murphy DA, Gaffney PM. (2024) Massively parallel reporter assay confirms regulatory potential of hQTLs and reveals important variants in lupus and other autoimmune diseases. HGG Adv. 2024 Apr 11;5(2):100279. doi: 10.1016/j.xhgg.2024.100279. Epub 2024 Feb 23. PMID: 38389303; PMCID: PMC10943488.
• Jurisch-Yaksi N, Wachten D, Gopalakrishnan J. (2024) The neuronal cilium - a highly diverse and dynamic organelle involved in sensory detection and neuromodulation. Trends Neurosci. 2024 Apr 4:S0166-2236(24)00041-9. doi: 10.1016/j.tins.2024.03.004. Epub ahead of print. PMID: 38580512.
• Laugwitz L, Cheng F, Collins SC, Hustinx A, Navarro N, Welsch S, Cox H, Hsieh TC, Vijayananth A, Buchert R, Bender B, Efthymiou S, Murphy D, Zafar F, Rana N, Grasshoff U, Falb RJ, Grimmel M, Seibt A, Zheng W, Ghaedi H, Thirion M, Couette S, Azizimalamiri R, Sadeghian S, Galehdari H, Zamani M, Zeighami J, Sedaghat A, Ramshe SM, Zare A, Alipoor B, Klee D, Sturm M, Ossowski S, Houlden H, Riess O, Wieczorek D, Gavin R, Maroofian R, Krawitz P, Yalcin B, Distelmaier F, Haack TB. (2024) ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations. Brain. 2024 Feb 22:awae058. doi: 10.1093/brain/awae058. Epub ahead of print. PMID: 38386308.
• Mathey CM, Maj C, Eriksson N, Krebs K, Westmeier J, David FS, Koromina M, Scheer AB, Szabo N, Wedi B, Wieczorek D, Amann PM, Löffler H, Koch L, Schöffl C, Dickel H, Ganjuur N, Hornung T, Buhl T, Greve J, Wurpts G, Aygören-Pürsün E, Steffens M, Herms S, Heilmann-Heimbach S, Hoffmann P, Schmidt B, Mavarani L, Andresen T, Sørensen SB, Andersen V, Vogel U, Landén M, Bulik CM; Estonian Biobank Research Team; DBDS Genomic Consortium; Bygum A, Magnusson PKE, von Buchwald C, Hallberg P, Rye Ostrowski S, Sørensen E, Pedersen OB, Ullum H, Erikstrup C, Bundgaard H, Milani L, Rasmussen ER, Wadelius M, Ghouse J, Sachs B, Nöthen MM, Forstner AJ. (2024) Meta-analysis of ACE inhibitor-induced angioedema identifies novel risk locus. J Allergy Clin Immunol. 2024 Apr;153(4):1073-1082. doi: 10.1016/j.jaci.2023.11.921. Epub 2024 Jan 31. PMID: 38300190.
• Nachtkamp K, Strupp C, Vukelja M, Kasprzak A, Haase D, Ganster C, Hildebrandt B, Betz B, Giagounidis A, Aul C, Blum S, Hofmann WK, Pfeilstöcker M, Valent P, Lübbert M, Seidl M, Rudelius M, Stauder R, Krieger O, Götze KS, Bobak J, Kündgen A, Schulz F, Dietrich S, Kobbe G, Gattermann N, Germing U. (2024) The new WHO 2022 and ICC proposals for the classification of myelodysplastic neoplasms. Validation based on the Düsseldorf MDS Registry and proposals for a merged classification. Leukemia. 2024 Feb;38(2):442-445. doi: 10.1038/s41375-024-02157-2. Epub 2024 Jan 23. PMID: 38263435; PMCID: PMC10844089.
• Ruault V, Burger P, Gradels‐Hauguel J, Ruiz N; Xtraordinaire; Jamra RA, Afenjar A, Alembik Y, Alessandri JL, Arpin S, Barcia G, Bendová Š, Bruel AL, Charles P, Chatron N, Chopra M, Conrad S, Daire VC, Cospain A, Coubes C, Coursimault J, Delahaye‐Duriez A, Doco M, Dufour W, Durand B, Engel C, Faivre L, Ferroul F, Fradin M, Frenkiel H, Fusco C, Garavelli L, Garde A, Gerard B, Germanaud D, Goujon L, Gouronc A, Ginglinger E, Goldenberg A, Hancarova M, Havlovicová M, Heron D, Isidor B, Marçais NJ, Keren B, Koch‐Hogrebe M, Kuentz P, Lamure V, Lebre AS, Lecoquierre F, Lehman N, Lesca G, Lyonnet S, Martin D, Mignot C, Neuhann TM, Nicolas G, Nizon M, Petit F, Philippe C, Piton A, Pollazzon M, Prchalová D, Putoux A, Rio M, Rondeau S, Rossi M, Sabbagh Q, Saugier‐Veber P, Schmetz A, Steffann J, Thauvin‐Robinet C, Toutain A, Them FTM, Trimarchi G, Vincent M, Vlčková M, Wieczorek D, Willems M, Yauy K, Zelinová M, Ziegler A; GENIDA Project; Chaumette B, Sadikovic B, Mandel JL, Geneviève D. (2024) Lessons from two series by physicians and caregivers' self‐reported data in DDX3X‐related disorders. Mol Genet Genomic Med. 2024 Jan 21;12(1):e2363. doi: 10.1002/mgg3.2363. PMCID: PMC10801341.
• Schmetz A, Lüdecke HJ, Surowy H, Sivalingam S, Bruel AL, Caumes R, Charles P, Chatron N, Chrzanowska K, Codina-Solà M, Colson C, Cuscó I, Denommé-Pichon AS, Edery P, Faivre L, Green A, Heide S, Hsieh TC, Hustinx A, Kleinendorst L, Knopp C, Kraft F, Krawitz PM, Lasa-Aranzasti A, Lesca G, López-González V, Maraval J, Mignot C, Neuhann T, Netzer C, Oehl-Jaschkowitz B, Petit F, Philippe C, Posmyk R, Putoux A, Reis A, Sánchez-Soler MJ, Suh J, Tkemaladze T, Tran Mau Them F, Travessa A, Trujillano L, Valenzuela I, van Haelst MM, Vasileiou G, Vincent-Delorme C, Walther M, Verde P, Bramswig NC, Wieczorek D. (2023) Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals. Hum Genet. 2023 Dec 20. doi: 10.1007/s00439-023-02622-5. Epub ahead of print. PMID: 38117302.

2023

• Aerden M, Denommé-Pichon AS, Bonneau D, Bruel AL, Delanne J, Gérard B, Mazel B, Philippe C, Pinson L, Prouteau C, Putoux A, Tran Mau-Them F, Viora-Dupont É, Vitobello A, Ziegler A, Piton A, Isidor B, Francannet C, Maillard PY, Julia S, Philippe A, Schaefer E, Koene S, Ruivenkamp C, Hoffer M, Legius E, Theunis M, Keren B, Buratti J, Charles P, Courtin T, Misra-Isrie M, van Haelst M, Waisfisz Q, Wieczorek D, Schmetz A, Herget T, Kortüm F, Lisfeld J, Debray FG, Bramswig NC, Atallah I, Fodstad H, Jouret G, Almoguera B, Tahsin-Swafiri S, Santos-Simarro F, Palomares-Bralo M, López-González V, Kibaek M, Tørring PM, Renieri A, Bruno LP, Õunap K, Wojcik M, Hsieh TC, Krawitz P, Van Esch H. (2023) The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant. Eur J Hum Genet. 2023 Apr;31(4):461-468. doi: 10.1038/s41431-023-01307-x. Epub 2023 Feb 7. PMID: 36747006; PMCID: PMC10133310.
• Angelova-Toshkina D, Decker JA, Traunwieser T, Holzapfel J, Bette S, Huber S, Schimmel M, Vollert K, Bison B, Kröncke T, Bramswig NC, Wieczorek D, Gnekow AK, Frühwald MC, Kuhlen M. (2023) Comprehensive neurological evaluation of a cohort of patients with neurofibromatosis type 1 from a single institution. Eur J Paediatr Neurol. 2023 Mar;43:52-61. doi: 10.1016/j.ejpn.2023.02.006. Epub 2023 Mar 5. PMID: 36905830.
• Averdunk L, Al-Thihli K, Surowy H, Lüdecke HJ, Drechsler M, Yigit G, Smorag L, Al Hallak B, Li Y, Altmüller J, Guthoff T, Wallot M, Nürnberg P, Wollnik B, Jamra RA, Al-Maawali A, Wieczorek D. (2023) Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the guanine exchange domain. Clin Genet. 2023 Apr;103(4):484-491. doi: 10.1111/cge.14290. Epub 2023 Jan 2. PMID: 36576126.
• Averdunk L, Huetzen MA, Moreno-Andrés D, Kalb R, McKee S, Hsieh TC, Seibt A, Schouwink M, Lalani S, Faqeih EA, Brunet T, Boor P, Neveling K, Hoischen A, Hildebrandt B, Graf E, Lu L, Jin W, Schaper J, Omer JA, Demaret T, Fleischer N, Schindler D, Krawitz P, Mayatepek E, Wieczorek D, Wang LL, Antonin W, Jachimowicz RD, von Felbert V, Distelmaier F. (2023) Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence. Genet Med. 2023 Mar 31:100836. doi: 10.1016/j.gim.2023.100836. Epub ahead of print. PMID: 37013901.
• Bieder A, Chandrasekar G, Wason A, Erkelenz S, Gopalakrishnan J, Kere J, Tapia-Páez I. (2023) Genetic and protein interaction studies between the ciliary dyslexia candidate genes DYX1C1 and DCDC2. BMC Mol Cell Biol. 2023 May 26;24(1):20. doi: 10.1186/s12860-023-00483-4. PMID: 37237337; PMCID: PMC10224228.
• Bosch E, Popp B, Güse E, Skinner C, van der Sluijs PJ, Maystadt I, Pinto AM, Renieri A, Bruno LP, Granata S, Marcelis C, Baysal Ö, Hartwich D, Holthöfer L, Isidor B, Cogne B, Wieczorek D, Capra V, Scala M, De Marco P, Ognibene M, Abou Jamra R, Platzer K, Carter LB, Kuismin O, van Haeringen A, Maroofian R, Valenzuela I, Cuscó I, Martinez-Agosto JA, Rabani AM, Mefford HC, Pereira EM, Close C, Anyane-Yeboa K, Wagner M, Hannibal MC, Zacher P, Thiffault I, Beunders G, Umair M, Bhola PT, McGinnis E, Millichap J, van de Kamp JM, Prijoles EJ, Dobson A, Shillington A, Graham BH, Garcia EJ, Kelly Galindo M, Ropers FG, Nibbeling EA, Hubbard G, Karimov C, Goj G, Bend R, Rath J, Morrow MM, Millan F, Salpietro V, Torella A, Nigro V, Kurki M, Stevenson RE, Santen GWE, Zweier M, Campeau PM, Severino M, Reis A, Accogli A, Vasileiou G. (2023) Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals. Genet Med. 2023 Aug 4:100950. doi: 10.1016/j.gim.2023.100950. Epub ahead of print. PMID: 37551667.
• Bramswig NC, Zaki MS. UNC80 Deficiency. 2017 Sep 21 [updated 2023 May 18]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 28933810.
• Chandrasegaran P, Nabilla Lestari A, Sinton MC, Gopalakrishnan J, Quintana JF. (2023) Modelling host- Trypanosoma brucei gambiense interactions in vitro using human induced pluripotent stem cell-derived cortical brain organoids. F1000Res. 2023 Jul 28;12:437. doi: 10.12688/f1000research.131507.2. PMID: 37588058; PMCID: PMC10425695.
• David M, Achtenhagen A, Bamberg C, Bormann C, Felderhoff-Müser U, Groth S, Hänel K, König K, Korell M, Michl S, Redler S, Schleußner E, Seyler H, Wallwiener M, Wallwiener S. (2023) Abortion in the First Trimester. Guideline of the DGGG (S2k-Level, AWMF Registry No. 015-094, December 2022) - Part 1 with Recommendations on Care Structures, Information and Advice on Decision-Making, Measures Before Abortion and Medical Abortion. Geburtshilfe Frauenheilkd. 2023 Oct 5;83(10):1205-1220. doi: 10.1055/a-2078-8118. PMID: 37808261; PMCID: PMC10556879.
• David M, Achtenhagen A, Bamberg C, Bormann C, Felderhoff-Müser U, Groth S, Hänel K, König K, Korell M, Michl S, Redler S, Schleußner E, Seyler H, Wallwiener M, Wallwiener S. (2023) Abortion in the First Trimester. Guideline of the DGGG (S2k-Level, AWMF Registry No. 015-094, December 2022) - Part 2 with Recommendations for Surgical Termination of Pregnancy and Follow-up Care After Termination of Pregnancy. Geburtshilfe Frauenheilkd. 2023 Oct 5;83(10):1221-1234. doi: 10.1055/a-2078-9346. PMID: 37808257; PMCID: PMC10556860.
• Dominguez-Valentin M, Haupt S, Seppälä TT, Sampson JR, Sunde L, Bernstein I, Jenkins MA, Engel C, Aretz S, Nielsen M, Capella G, Balaguer F, Evans DG, Burn J, Holinski-Feder E, Bertario L, Bonanni B, Lindblom A, Levi Z, Macrae F, Winship I, Plazzer JP, Sijmons R, Laghi L, Della Valle A, Heinimann K, Dębniak T, Fruscio R, Lopez-Koestner F, Alvarez-Valenzuela K, Katz LH, Laish I, Vainer E, Vaccaro C, Carraro DM, Monahan K, Half E, Stakelum A, Winter D, Kennelly R, Gluck N, Sheth H, Abu-Freha N, Greenblatt M, Rossi BM, Bohorquez M, Cavestro GM, Lino-Silva LS, Horisberger K, Tibiletti MG, Nascimento ID, Thomas H, Rossi NT, Apolinário da Silva L, Zaránd A, Ruiz-Bañobre J, Heuveline V, Mecklin JP, Pylvänäinen K, Renkonen-Sinisalo L, Lepistö A, Peltomäki P, Therkildsen C, Madsen MG, Burgdorf SK, Hopper JL, Win AK, Haile RW, Lindor N, Gallinger S, Le Marchand L, Newcomb PA, Figueiredo J, Buchanan DD, Thibodeau SN, von Knebel Doeberitz M, Loeffler M, Rahner N, Schröck E, Steinke-Lange V, Schmiegel W, Vangala D, Perne C, Hüneburg R, Redler S, Büttner R, Weitz J, Pineda M, Duenas N, Vidal JB, Moreira L, Sánchez A, Hovig E, Nakken S, Green K, Lalloo F, Hill J, Crosbie E, Mints M, Goldberg Y, Tjandra D, Ten Broeke SW, Kariv R, Rosner G, Advani SH, Thomas L, Shah P, Shah M, Neffa F, Esperon P, Pavicic W, Torrezan GT, Bassaneze T, Martin CA, Moslein G, Moller P. (2023) Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database. EClinicalMedicine. 2023 Mar 20;58:101909. doi: 10.1016/j.eclinm.2023.101909. PMID: 37181409; PMCID: PMC10166779.
• Foo JC, Redler S, Forstner AJ, Basmanav FB, Pethukova L, Guo J, Streit F, Witt SH, Sirignano L, Zillich L, Awasthi S, Ripke S, Christiano AM, Tesch F, Schmitt J, Nöthen MM, Betz RC, Rietschel M, Frank J. (2023) Exploring the overlap between alopecia areata and major depressive disorder: Epidemiological and genetic perspectives. J Eur Acad Dermatol Venereol. 2023 Jan 25. doi: 10.1111/jdv.18921. Epub ahead of print. PMID: 36695075.
• Gabriel E, Albanna W, Pasquini G, Ramani A, Josipovic N, Mariappan A, Riparbelli MG, Callaini G, Karch CM, Goureau O, Papantonis A, Busskamp V, Schneider T, Gopalakrishnan J. (2023) Generation of iPSC-derived human forebrain organoids assembling bilateral eye primordia. Nat Protoc. 2023 Jun;18(6):1893-1929. doi: 10.1038/s41596-023-00814-x. Epub 2023 May 17. PMID: 37198320.
• Ganapathi M, Matsuoka LS, March M, Li D, Brokamp E, Benito-Sanz S, White SM, Lachlan K, Ahimaz P, Sewda A, Bastarache L, Thomas-Wilson A, Stoler JM, Bramswig NC, Baptista J, Stals K, Demurger F, Cogne B, Isidor B, Bedeschi MF, Peron A, Amiel J, Zackai E, Schacht JP, Iglesias AD, Morton J, Schmetz A; Undiagnosed Diseases Network; Seidel V, Lucia S, Baskin SM, Thiffault I, Cogan JD, Gordon CT, Chung WK, Bowdin S, Bhoj E. (2023) Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays. Eur J Hum Genet. 2023 Oct;31(10):1117-1124. doi: 10.1038/s41431-023-01434-5. Epub 2023 Jul 27. PMID: 37500725; PMCID: PMC10545729.
• Gopalakrishnan J, Feistel K, Friedrich BM, Grapin-Botton A, Jurisch-Yaksi N, Mass E, Mick DU, Müller RU, May-Simera H, Schermer B, Schmidts M, Walentek P, Wachten D. (2023) Emerging principles of primary cilia dynamics in controlling tissue organization and function. EMBO J. 2023 Nov 2;42(21):e113891. doi: 10.15252/embj.2023113891. Epub 2023 Sep 25. PMID: 37743763; PMCID: PMC10620770.
• Hanssen F, Gabernet G, Smith NH, Mertes C, Neogi AG, Brandhoff L, Ossowski A, Altmueller J, Becker K, Petzold A, Sturm M, Stöcker T, Sivalingam S, Brand F, Schmid A, Buness A, Probst AJ, Motameny S (2023) NCBench: Providing an open, reproducible, transparent, adaptable, and continuous benchmark approach for DNA-sequencing-based variant calling [version 1; peer review: awaiting peer review]. F1000Research 2023, 12:1125 (https://doi.org/10.12688/f1000research.140344.1)
• Kampmeier A, Leitão E, Parenti I, Beygo J, Depienne C, Brämswig NC, Hsieh TC, Afenjar A, Beck-Wödl S, Grasshoff U, Haack TB, Bijlsma EK, Ruivenkamp C, Lausberg E, Elbracht M, Haanpää MK, Koillinen H, Heinrich U, Rost I, Jamra RA, Popp D, Koch-Hogrebe M, Rostasy K, López-González V, Sanchez-Soler MJ, Macedo C, Schmetz A, Steinborn C, Weidensee S, Lesmann H, Marbach F, Caro P, Schaaf CP, Krawitz P, Wieczorek D, Kaiser FJ, Kuechler A. (2023) PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals. Front Cell Dev Biol. 2023 Jan 16;10:1020609. doi: 10.3389/fcell.2022.1020609. PMID: 36726590; PMCID: PMC9886139.
• Lee D, Gimple RC, Wu X, Prager BC, Qiu Z, Wu Q, Daggubati V, Mariappan A, Gopalakrishnan J, Sarkisian MR, Raleigh DR, Rich JN. (2023) Superenhancer activation of KLHDC8A drives glioma ciliation and hedgehog signaling. J Clin Invest. 2023 Jan 17;133(2):e163592. doi: 10.1172/JCI163592. PMID: 36394953; PMCID: PMC9843063.
• Minnerop M, Leube B, Reinhardt A, Kölsche T, Lee JI, Blank C, Schnitzler A. (2023) Variable Age at Onset in AOPEP-Associated Dystonia. Mov Disord. 2023 Dec;38(12):2318-2319. doi: 10.1002/mds.29629. PMID: 38113317.
• Morsy H, Benkirane M, Cali E, Rocca C, Zhelcheska K, Cipriani V, Galanaki E, Maroofian R, Efthymiou S, Murphy D, O'Driscoll M, Suri M, Banka S, Clayton-Smith J, Wright T, Redman M, Bassetti JA, Nizon M, Cogne B, Jamra RA, Bartolomaeus T, Heruth M, Krey I, Gburek-Augustat J, Wieczorek D, Gattermann F, Mcentagart M, Goldenberg A, Guyant-Marechal L, Garcia-Moreno H, Giunti P, Chabrol B, Bacrot S, Buissonnière R, Magry V, Gowda VK, Srinivasan VM, Melegh B, Szabó A, Sümegi K, Cossée M, Ziff M, Butterfield R, Hunt D, Bird-Lieberman G, Hanna M, Koenig M, Stankewich M, Vandrovcova J, Houlden H; Genomics England Research Consortium. (2023) Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia. Genet Med. 2023 Jan;25(1):76-89. doi: 10.1016/j.gim.2022.09.013. Epub 2022 Nov 4. PMID: 36331550.
• Platte V, Bergmann A, Hildebrandt B, Wieczorek D, Schuler E, Germing U, Kaivers J, Haas R, Kobbe G, Schroeder T, Rautenberg C. (2022) Clinical and Cytogenetic Characterization of Early and Late Relapses in Patients Allografted for Myeloid Neoplasms with a Myelodysplastic Component. Cancers (Basel). 2022 Dec 18;14(24):6244. doi: 10.3390/cancers14246244. PMID: 36551729; PMCID: PMC9776604.
• Reijnders MRF, Seibt A, Brugger M, Lamers IJC, Ott T, Klaas O, Horváth J, Rose AMS, Craghill IM, Brunet T, Graf E, Mayerhanser K, Hellebrekers D, Pauck D, Neuen-Jacob E, Rodenburg RJT, Wieczorek D, Klee D, Mayatepek E, Driessen G, Bindermann R, Averdunk L, Lohmeier K, Sinnema M, Stegmann APA, Roepman R, Poulter JA, Distelmaier F. (2023) De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood. Genet Med. 2023 Apr 10:100838. doi: 10.1016/j.gim.2023.100838. Epub ahead of print. PMID: 37057673. https://doi.org/10.1016/j.gim.2023.100838
• Ribeiro JH, Altinisik N, Rajan N, Verslegers M, Baatout S, Gopalakrishnan J, Quintens R. (2023) DNA damage and repair: underlying mechanisms leading to microcephaly. Front Cell Dev Biol. 2023 Oct 10;11:1268565. doi: 10.3389/fcell.2023.1268565. PMID: 37881689; PMCID: PMC10597653.
• Rots D, Jakub TE, Keung C, Jackson A, Banka S, Pfundt R, de Vries BBA, van Jaarsveld RH, Hopman SMJ, van Binsbergen E, Valenzuela I, Hempel M, Bierhals T, Kortüm F, Lecoquierre F, Goldenberg A, Hertz JM, Andersen CB, Kibæk M, Prijoles EJ, Stevenson RE, Everman DB, Patterson WG, Meng L, Gijavanekar C, De Dios K, Lakhani S, Levy T, Wagner M, Wieczorek D, Benke PJ, Lopez Garcia MS, Perrier R, Sousa SB, Almeida PM, Simões MJ, Isidor B, Deb W, Schmanski AA, Abdul-Rahman O, Philippe C, Bruel AL, Faivre L, Vitobello A, Thauvin C, Smits JJ, Garavelli L, Caraffi SG, Peluso F, Davis-Keppen L, Platt D, Royer E, Leeuwen L, Sinnema M, Stegmann APA, Stumpel CTRM, Tiller GE, Bosch DGM, Potgieter ST, Joss S, Splitt M, Holden S, Prapa M, Foulds N, Douzgou S, Puura K, Waltes R, Chiocchetti AG, Freitag CM, Satterstrom FK, De Rubeis S, Buxbaum J, Gelb BD, Branko A, Kushima I, Howe J, Scherer SW, Arado A, Baldo C, Patat O, Bénédicte D, Lopergolo D, Santorelli FM, Haack TB, Dufke A, Bertrand M, Falb RJ, Rieß A, Krieg P, Spranger S, Bedeschi MF, Iascone M, Josephi-Taylor S, Roscioli T, Buckley MF, Liebelt J, Dagli AI, Aten E, Hurst ACE, Hicks A, Suri M, Aliu E, Naik S, Sidlow R, Coursimault J, Nicolas G, Küpper H, Petit F, Ibrahim V, Top D, Di Cara F; Genomics England Research Consortium; Louie RJ, Stolerman E, Brunner HG, Vissers LELM, Kramer JM, Kleefstra T. (2023) The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder. Am J Hum Genet. 2023 Jun 1;110(6):963-978. doi: 10.1016/j.ajhg.2023.04.008. Epub 2023 May 16. PMID: 37196654; PMCID: PMC10257005.
• Royer-Pokora B, Wruck W, Adjaye J, Beier M (2023) Gene expression studies of WT1 mutant Wilms tumor cell lines in the frame work of published kidney development data reveals their early kidney stem cell origin. PLoS ONE 18(1): e0270380. https://doi.org/10.1371/journal.pone.0270380.
• Schmetz A, Schaper J, Thelen S, Rana M, Klenzner T, Schaumann K, Beygo J, Surowy H, Lüdecke H-J, Wieczorek D. (2023) FGF9-Associated Multiple Synostoses Syndrome Type 3 in a Multigenerational Family. Genes. 2023; 14(3):724. https://doi.org/10.3390/genes14030724.
• Silzle T, Blum S, Kasprzak A, Nachtkamp K, Rudelius M, Hildebrandt B, Götze KS, Gattermann N, Lauseker M, Germing U. (2023) The Absolute Monocyte Count at Diagnosis Affects Prognosis in Myelodysplastic Syndromes Independently of the IPSS-R Risk Score. Cancers (Basel). 2023 Jul 11;15(14):3572. doi: 10.3390/cancers15143572. PMID: 37509235; PMCID: PMC10377210.
• Sudhakar DVS, Phanindranath R, Jaishankar S, Ramani A, Kalamkar KP, Kumar U, Pawar AD, Dada R, Singh R, Gupta NJ, Deenadayal M, Tolani AD, Sharma Y, Anand A, Gopalakrishnan J, Thangaraj K. (2023) Exome sequencing and functional analyses revealed CETN1 variants leads to impaired cell division and male fertility. Hum Mol Genet. 2023 Jan 27;32(4):533-542. doi: 10.1093/hmg/ddac216. PMID: 36048845.
• Thalwitzer KM, Driedger JH, Xian J, Saffari A, Zacher P, Bölsterli BK, Ruggiero SM, Sullivan KR, Datta AN, Kellinghaus C, Althaus J, Wiemer-Kruel A, van Baalen A, Pampel A, Alber M, Braakman HMH, Debus OM, Denecke J, Hobbiebrunken E, Breitweg I, Diehl D, Eitel H, Gburek-Augustat J, Preisel M, Schlump JU, Laufs M, Mammadova D, Wurst C, Prager C, Löhr-Nilles C, Martin P, Garbade SF, Platzer K, Benkel-Herrenbrueck I, Egler K, Fazeli W, Lemke JR, Runkel E, Klein B, Linden T, Schröter J, Steffeck H, Thies B, von Deimling F, Illsinger S, Borggraefe I, Classen G, Wieczorek D, Ramantani G, Koelker S, Hoffmann GF, Ries M, Helbig I, Syrbe S. (2023) Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in STXBP1. Neurology. 2023 Aug 29;101(9):e879-e891. doi: 10.1212/WNL.0000000000207550. Epub 2023 Jul 5. PMID: 37407264; PMCID: PMC10501093.

2022

• Angelova-Toshkina D, Holzapfel J, Huber S, Schimmel M, Wieczorek D, Gnekow AK, Frühwald MC, Kuhlen M (2022) Neurofibromatosis type 1: A comparison of the 1997 NIH and the 2021 revised diagnostic criteria in 75 children and adolescents. Genet Med. 2022 Sep;24(9):1978-1985. doi: 10.1016/j.gim.2022.05.013. Epub 2022 Jun 17. PMID: 35713653.
• Averdunk L, Klee D, Wieczorek D, Haack TB, Distelmaier F. (2022) RANBP2 Mutation Mimicking Viral Encephalitis. Neuropediatrics. 2022 Aug;53(4):301-302. doi: 10.1055/a-1816-8605. Epub 2022 Apr 5. PMID: 35381605.
• Bainbridge MN, Mazumder A, Ogasawara D, Abou Jamra R, Bernard G, Bertini E, Burglen L, Cope H, Crawford A, Derksen A, Dure L, Gantz E, Koch-Hogrebe M, Hurst ACE, Mahida S, Marshall P, Micalizzi A, Novelli A, Peng H; Rady Children's Institute for Genomic Medicine, Rodriguez D, Robbins SL, Rutledge SL, Scalise R, Schließke S, Shashi V, Srivastava S, Thiffault I, Topol S; Undiagnosed Disease Network, Qebibo L, Wieczorek D, Cravatt B, Haricharan S, Torkamani A, Friedman J. (2022) Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome. Brain. 2022 Oct 21;145(10):3383-3390. doi: 10.1093/brain/awac223. PMID: 35737950; PMCID: PMC9586540.
• Boquoi A, Banahan SM, Mohring A, Savickaite I, Strapatsas J, Hildebrandt B, Kobbe G, Gattermann N, Haas R, Schroeder T, Germing U, Fenk R. (2022) Therapy-related myeloid neoplasms following treatment for multiple myeloma-a single center analysis. Ann Hematol. 2022 May;101(5):1031-1038. doi: 10.1007/s00277-022-04775-1. Epub 2022 Mar 9. PMID: 35262868; PMCID: PMC8993729.
• Bucksch K, Zachariae S, Ahadova A, Aretz S, Büttner R, Görgens H, Holinski-Feder E, Hüneburg R, Kloor M, von Knebel Doeberitz M, Ladigan-Badura S, Moeslein G, Morak M, Nattermann J, Nguyen HP, Perne C, Redler S, Schmetz A, Steinke-Lange V, Surowy H, Vangala DB, Weitz J, Loeffler M, Engel C; German Consortium for Familial Intestinal Cancer. (2022) Adenoma and colorectal cancer risks in Lynch syndrome, Lynch-like syndrome and familial colorectal cancer type X. Int J Cancer. 2022 Jan 1;150(1):56-66. doi: 10.1002/ijc.33790. Epub 2021 Sep 14. PMID: 34469588.
• Busch MA, Haase A, Miroschnikov N, Doege A, Biewald E, Bechrakis NE, Beier M, Kanber D, Lohmann D, Metz K, Dünker N (2022) TFF1 in Aqueous Humor — A Potential New Biomarker for Retinoblastoma. Cancers 2022, 14, 677.  https://doi.org/10.3390/cancers14030677.
• Ceruti T, D'Alessandris QG, Frapolli R, Gopalakrishnan J, Buccarelli M, Meroni M, Lauretti L, Ricci-Vitiani L, Pallini R, Zucchetti M. (2022) Development and Validation of a HPLC-MS/MS Method to Measure Nifuroxazide and Its Application in Healthy and Glioblastoma-Bearing Mice. Pharmaceutics. 2022 Sep 28;14(10):2071. doi: 10.3390/pharmaceutics14102071. PMID: 36297506; PMCID: PMC9608191.
• Denisova E, Westphal D, Surowy HM, Meier F, Hutter B, Reifenberger J, Rütten A, Schulz A, Sergon M, Ziemer M, Brors B, Betz RC, Redler S. (2022) Whole-exome sequencing in eccrine porocarcinoma indicates promising therapeutic strategies. Cancer Gene Ther. 2022 Jun;29(6):697-708. doi: 10.1038/s41417-021-00347-z. Epub 2021 May 27. PMID: 34045664; PMCID: PMC9209330.
• Dixon-Suen SC, Lewis SJ, Martin RM, English DR, Boyle T, Giles GG, Michailidou K, Bolla MK, Wang Q, Dennis J, Lush M, Investigators A, Ahearn TU, Ambrosone CB, Andrulis IL, Anton-Culver H, Arndt V, Aronson KJ, Augustinsson A, Auvinen P, Beane Freeman LE, Becher H, Beckmann MW, Behrens S, Bermisheva M, Blomqvist C, Bogdanova NV, Bojesen SE, Bonanni B, Brenner H, Brüning T, Buys SS, Camp NJ, Campa D, Canzian F, Castelao JE, Cessna MH, Chang-Claude J, Chanock SJ, Clarke CL, Conroy DM, Couch FJ, Cox A, Cross SS, Czene K, Daly MB, Devilee P, Dörk T, Dwek M, Eccles DM, Eliassen AH, Engel C, Eriksson M, Evans DG, Fasching PA, Fletcher O, Flyger H, Fritschi L, Gabrielson M, Gago-Dominguez M, García-Closas M, García-Sáenz JA, Goldberg MS, Guénel P, Gündert M, Hahnen E, Haiman CA, Häberle L, Håkansson N, Hall P, Hamann U, Hart SN, Harvie M, Hillemanns P, Hollestelle A, Hooning MJ, Hoppe R, Hopper J, Howell A, Hunter DJ, Jakubowska A, Janni W, John EM, Jung A, Kaaks R, Keeman R, Kitahara CM, Koutros S, Kraft P, Kristensen VN, Kubelka-Sabit K, Kurian AW, Lacey JV, Lambrechts D, Le Marchand L, Lindblom A, Loibl S, Lubiński J, Mannermaa A, Manoochehri M, Margolin S, Martinez ME, Mavroudis D, Menon U, Mulligan AM, Murphy RA, Collaborators N, Nevanlinna H, Nevelsteen I, Newman WG, Offit K, Olshan AF, Olsson H, Orr N, Patel A, Peto J, Plaseska-Karanfilska D, Presneau N, Rack B, Radice P, Rees-Punia E, Rennert G, Rennert HS, Romero A, Saloustros E, Sandler DP, Schmidt MK, Schmutzler RK, Schwentner L, Scott C, Shah M, Shu XO, Simard J, Southey MC, Stone J, Surowy H, Swerdlow AJ, Tamimi RM, Tapper WJ, Taylor JA, Terry MB, Tollenaar RAEM, Troester MA, Truong T, Untch M, Vachon CM, Joseph V, Wappenschmidt B, Weinberg CR, Wolk A, Yannoukakos D, Zheng W, Ziogas A, Dunning AM, Pharoah PDP, Easton DF, Milne RL, Lynch BM; Breast Cancer Association Consortium. (2022) Physical activity, sedentary time and breast cancer risk: a Mendelian randomisation study. Br J Sports Med. 2022 Oct;56(20):1157-1170. doi: 10.1136/bjsports-2021-105132. Epub 2022 Sep 6. PMID: 36328784.
• Dorling L, Carvalho S, Allen J, Parsons MT, Fortuno C, González-Neira A, Heijl SM, Adank MA, Ahearn TU, Andrulis IL, Auvinen P, Becher H, Beckmann MW, Behrens S, Bermisheva M, Bogdanova NV, Bojesen SE, Bolla MK, Bremer M, Briceno I, Camp NJ, Campbell A, Castelao JE, Chang-Claude J, Chanock SJ, Chenevix-Trench G; NBCS Collaborators; Collée JM, Czene K, Dennis J, Dörk T, Eriksson M, Evans DG, Fasching PA, Figueroa J, Flyger H, Gabrielson M, Gago-Dominguez M, García-Closas M, Giles GG, Glendon G, Guénel P, Gündert M, Hadjisavvas A, Hahnen E, Hall P, Hamann U, Harkness EF, Hartman M, Hogervorst FBL, Hollestelle A, Hoppe R, Howell A; kConFab Investigators; SGBCC Investigators; Jakubowska A, Jung A, Khusnutdinova E, Kim SW, Ko YD, Kristensen VN, Lakeman IMM, Li J, Lindblom A, Loizidou MA, Lophatananon A, Lubiński J, Luccarini C, Madsen MJ, Mannermaa A, Manoochehri M, Margolin S, Mavroudis D, Milne RL, Mohd Taib NA, Muir K, Nevanlinna H, Newman WG, Oosterwijk JC, Park SK, Peterlongo P, Radice P, Saloustros E, Sawyer EJ, Schmutzler RK, Shah M, Sim X, Southey MC, Surowy H, Suvanto M, Tomlinson I, Torres D, Truong T, van Asperen CJ, Waltes R, Wang Q, Yang XR, Pharoah PDP, Schmidt MK, Benitez J, Vroling B, Dunning AM, Teo SH, Kvist A, de la Hoya M, Devilee P, Spurdle AB, Vreeswijk MPG, Easton DF. (2022) Breast cancer risks associated with missense variants in breast cancer susceptibility genes. Genome Med. 2022 May 18;14(1):51. doi: 10.1186/s13073-022-01052-8. PMID: 35585550; PMCID: PMC9116026.
• Hanker B, Gillessen-Kaesbach G, Hüning I, Lüdecke HJ, Wieczorek D (2022) Maternal transmission of a mild Coffin-Siris syndrome phenotype caused by a SOX11 missense variant. Eur J Hum Genet. 2022 Jan;30(1):126-132. doi: 10.1038/s41431-021-00865-2. Epub 2021 Mar 31. PMID: 33785884; PMCID: PMC8738766.
• Houwaart T, Belhaj S, Tawalbeh E, Nagels D, Fröhlich Y, Finzer P, Ciruela P, Sabrià A, Herrero M, Andrés C, Antón A, Benmoumene A, Asskali D, Haidar H, von Dahlen J, Nicolai J, Stiller M, Blum J, Lange C, Adelmann C, Schroer B, Osmers U, Grice C, Kirfel PP, Jomaa H, Strelow D, Hülse L, Pigulla M, Kreuzer P, Tyshaieva A, Weber J, Wienemann T, Kohns Vasconcelos M, Hoffmann K, Lübke N, Hauka S, Andree M, Scholz CJ, Jazmati N, Göbels K, Zotz R, Pfeffer K, Timm J, Ehlkes L, Walker A, Dilthey AT; German COVID-19 OMICS Initiative (DeCOI); German COVID-19 OMICs Initiative (DeCOI). (2022) Integrated genomic surveillance enables tracing of person-to-person SARS-CoV-2 transmission chains during community transmission and reveals extensive onward transmission of travel-imported infections, Germany, June to July 2021. Euro Surveill. 2022 Oct;27(43):2101089. doi: 10.2807/1560-7917.ES.2022.27.43.2101089. PMID: 36305336; PMCID: PMC9615415.
• Johannesen KM, Liu Y, Koko M, Gjerulfsen CE, Sonnenberg L, Schubert J, Fenger CD, Eltokhi A, Rannap M, Koch NA, Lauxmann S, Krüger J, Kegele J, Canafoglia L, Franceschetti S, Mayer T, Rebstock J, Zacher P, Ruf S, Alber M, Sterbova K, Lassuthová P, Vlckova M, Lemke JR, Platzer K, Krey I, Heine C, Wieczorek D, Kroell-Seger J, Lund C, Klein KM, Au PYB, Rho JM, Ho AW, Masnada S, Veggiotti P, Giordano L, Accorsi P, Hoei-Hansen CE, Striano P, Zara F, Verhelst H, Verhoeven JS, Braakman HMH, van der Zwaag B, Harder AVE, Brilstra E, Pendziwiat M, Lebon S, Vaccarezza M, Le NM, Christensen J, Grønborg S, Scherer SW, Howe J, Fazeli W, Howell KB, Leventer R, Stutterd C, Walsh S, Gerard M, Gerard B, Matricardi S, Bonardi CM, Sartori S, Berger A, Hoffman-Zacharska D, Mastrangelo M, Darra F, Vøllo A, Motazacker MM, Lakeman P, Nizon M, Betzler C, Altuzarra C, Caume R, Roubertie A, Gélisse P, Marini C, Guerrini R, Bilan F, Tibussek D, Koch-Hogrebe M, Perry MS, Ichikawa S, Dadali E, Sharkov A, Mishina I, Abramov M, Kanivets I, Korostelev S, Kutsev S, Wain KE, Eisenhauer N, Wagner M, Savatt JM, Müller-Schlüter K, Bassan H, Borovikov A, Nassogne MC, Destrée A, Schoonjans AS, Meuwissen M, Buzatu M, Jansen A, Scalais E, Srivastava S, Tan WH, Olson HE, Loddenkemper T, Poduri A, Helbig KL, Helbig I, Fitzgerald MP, Goldberg EM, Roser T, Borggraefe I, Brünger T, May P, Lal D, Lederer D, Rubboli G, Heyne HO, Lesca G, Hedrich UBS, Benda J, Gardella E, Lerche H, Møller RS. (2022) Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications. Brain. 2022 Sep 14;145(9):2991-3009. doi: 10.1093/brain/awab321. PMID: 34431999.
• Kaivers J, Peters J, Rautenberg C, Schroeder T, Kobbe G, Hildebrandt B, Haas R, Germing U, Bennett JM. (2022) The WHO 2016 diagnostic criteria for Acute Myeloid leukemia with myelodysplasia related changes (AML-MRC) produce a very heterogeneous entity: A retrospective analysis of the FAB subtype RAEB-T. Leuk Res. 2022 Jan;112:106757. doi: 10.1016/j.leukres.2021.106757. Epub 2021 Nov 26. PMID: 34864369.
• Karadag C, Gopalakrishnan J, von Saß C, Cornelius JF, Hänggi D, van Lieshout JH, Kamp MA. (2022) Non-Animal Models in Experimental Subarachnoid Hemorrhage Research: Potentials and the Dilemma of the Translation from Bench to Bedside. Transl Stroke Res. 2022 Apr;13(2):218-221. doi: 10.1007/s12975-021-00950-0. Epub 2021 Oct 29. PMID: 34714498; PMCID: PMC8918456.
• Lüdecke HJ, Wieczorek D. (2022) TXNL4A-Related Craniofacial Disorders. 2016 Jul 14 [updated 2022 May 12]. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. PMID: 27413799.
• Møller P, Seppälä T, Dowty JG, Haupt S, Dominguez-Valentin M, Sunde L, Bernstein I, Engel C, Aretz S, Nielsen M, Capella G, Evans DG, Burn J, Holinski-Feder E, Bertario L, Bonanni B, Lindblom A, Levi Z, Macrae F, Winship I, Plazzer JP, Sijmons R, Laghi L, Valle AD, Heinimann K, Half E, Lopez-Koestner F, Alvarez-Valenzuela K, Scott RJ, Katz L, Laish I, Vainer E, Vaccaro CA, Carraro DM, Gluck N, Abu-Freha N, Stakelum A, Kennelly R, Winter D, Rossi BM, Greenblatt M, Bohorquez M, Sheth H, Tibiletti MG, Lino-Silva LS, Horisberger K, Portenkirchner C, Nascimento I, Rossi NT, da Silva LA, Thomas H, Zaránd A, Mecklin JP, Pylvänäinen K, Renkonen-Sinisalo L, Lepisto A, Peltomäki P, Therkildsen C, Lindberg LJ, Thorlacius-Ussing O, von Knebel Doeberitz M, Loeffler M, Rahner N, Steinke-Lange V, Schmiegel W, Vangala D, Perne C, Hüneburg R, de Vargas AF, Latchford A, Gerdes AM, Backman AS, Guillén-Ponce C, Snyder C, Lautrup CK, Amor D, Palmero E, Stoffel E, Duijkers F, Hall MJ, Hampel H, Williams H, Okkels H, Lubiński J, Reece J, Ngeow J, Guillem JG, Arnold J, Wadt K, Monahan K, Senter L, Rasmussen LJ, van Hest LP, Ricciardiello L, Kohonen-Corish MRJ, Ligtenberg MJL, Southey M, Aronson M, Zahary MN, Samadder NJ, Poplawski N, Hoogerbrugge N, Morrison PJ, James P, Lee G, Chen-Shtoyerman R, Ankathil R, Pai R, Ward R, Parry S, Dębniak T, John T, van Overeem Hansen T, Caldés T, Yamaguchi T, Barca-Tierno V, Garre P, Cavestro GM, Weitz J, Redler S, Büttner R, Heuveline V, Hopper JL, Win AK, Lindor N, Gallinger S, Le Marchand L, Newcomb PA, Figueiredo J, Buchanan DD, Thibodeau SN, Ten Broeke SW, Hovig E, Nakken S, Pineda M, Dueñas N, Brunet J, Green K, Lalloo F, Newton K, Crosbie EJ, Mints M, Tjandra D, Neffa F, Esperon P, Kariv R, Rosner G, Pavicic WH, Kalfayan P, Torrezan GT, Bassaneze T, Martin C, Moslein G, Ahadova A, Kloor M, Sampson JR, Jenkins MA; European Hereditary Tumour Group (EHTG) and the International Mismatch Repair Consortium (IMRC). (2022) Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium. Hered Cancer Clin Pract. 2022 Oct 1;20(1):36. doi: 10.1186/s13053-022-00241-1. PMID: 36182917; PMCID: PMC9526951.
• Rosenhahn E, O'Brien TJ, Zaki MS, Sorge I, Wieczorek D, Rostasy K, Vitobello A, Nambot S, Alkuraya FS, Hashem MO, Alhashem A, Tabarki B, Alamri AS, Al Safar AH, Bubshait DK, Alahmady NF, Gleeson JG, Abdel-Hamid MS, Lesko N, Ygberg S, Correia SP, Wredenberg A, Alavi S, Seyedhassani SM, Ebrahimi Nasab M, Hussien H, Omar TEI, Harzallah I, Touraine R, Tajsharghi H, Morsy H, Houlden H, Shahrooei M, Ghavideldarestani M, Abdel-Salam GMH, Torella A, Zanobio M, Terrone G, Brunetti-Pierri N, Omrani A, Hentschel J, Lemke JR, Sticht H, Abou Jamra R, Brown AEX, Maroofian R, Platzer K. (2022) Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications. Am J Hum Genet. 2022 Aug 4;109(8):1421-1435. doi: 10.1016/j.ajhg.2022.06.008. Epub 2022 Jul 12. PMID: 35830857; PMCID: PMC9388382.
• Schmetz A, Xiong X, Cesarato N, Basmanav FB, Gierthmuehlen P, Schaper J, Schlieper D, Wehner M, Thiele H, Frank J, Betz RC, Redler S. (2022) Phenotype diversity associated with TP63 mutations. J Dtsch Dermatol Ges. 2022 Jun;20(6):872-875. doi: 10.1111/ddg.14770. Epub 2022 May 20. PMID: 35593033.
• Stein A, Hilken Née Thomopoulou P, Frias C, Hopff SM, Varela P, Wilke N, Mariappan A, Neudörfl JM, Fedorov AY, Gopalakrishnan J, Gigant B, Prokop A, Schmalz HG. (2022) B-nor-methylene Colchicinoid PT-100 Selectively Induces Apoptosis in Multidrug-Resistant Human Cancer Cells via an Intrinsic Pathway in a Caspase-Independent Manner. ACS Omega. 2022 Jan 11;7(3):2591-2603. doi: 10.1021/acsomega.1c04659. PMID: 35097257; PMCID: PMC8792921.
• Uhlmann C, Nickel AC, Picard D, Rossi A, Li G, Hildebrandt B, Brockerhoff G, Bendt F, Hübenthal U, Hewera M, Steiger HJ, Wieczorek D, Perrakis A, Zhang W, Remke M, Koch K, Tigges J, Croner RS, Fritsche E, Kahlert UD (2022) Progenitor cells derived from gene-engineered human induced pluripotent stem cells as synthetic cancer cell alternatives for in vitro pharmacology. Biotechnol J. 2022 Jun;17(6):e2100693. doi: 10.1002/biot.202100693. Epub 2022 Apr 3. PMID: 35334498.
• Valente O, Dobner J, Ramachandran H, Hildebrandt B, Distelmaier F, Ventura N, Rossi A. (2022) Generation of an induced pluripotent stem cell line (IUFi002-A) from a Leigh syndrome patient carrying mutations in the NDUFS1 gene. Stem Cell Res. 2022 Dec;65:102971. doi: 10.1016/j.scr.2022.102971. Epub 2022 Nov 14. PMID: 36403546.
• Van der Laan L, Rooney K, Alders M, Relator R, McConkey H, Kerkhof J, Levy MA, Lauffer P, Aerden M, Theunis M, Legius E, Tedder ML, Vissers LELM, Koene S, Ruivenkamp C, Hoffer MJV, Wieczorek D, Bramswig NC, Herget T, González VL, Santos-Simarro F, Tørring PM, Denomme-Pichon AS, Isidor B, Keren B, Julia S, Schaefer E, Francannet C, Maillard PY, Misra-Isrie M, Van Esch H, Mannens MMAM, Sadikovic B, van Haelst MM, Henneman P. (2022) Episignature Mapping of TRIP12 Provides Functional Insight into Clark-Baraitser Syndrome. Int J Mol Sci. 2022 Nov 8;23(22):13664. doi: 10.3390/ijms232213664. PMID: 36430143; PMCID: PMC9690904.
• Van Meenen D, Doege A, Alefeld E, Haase A, Beier M, Kiefer T, Biewald E, Metz K, Dräger O, Busch MA, Dünker N (2022) ADAM10 and ADAM17 — Novel Players in Retinoblastoma Carcinogenesis. Int. J. Mol. Sci. 2022, 23(20), 12621; https://doi.org/10.3390/ijms232012621.
• Wagener R, Walter C, Surowy HM, Brandes D, Soura S, Alzoubi D, Yasin L, Fischer U, Dugas M, Borkhardt A, Brozou T. (2022) Noncancer-related Secondary Findings in a Cohort of 231 Children With Cancer and Their Parents. J Pediatr Hematol Oncol. 2022 May 3. doi: 10.1097/MPH.0000000000002475. Epub ahead of print. PMID: 35537032.
• Walker A, Houwaart T, Finzer P, Ehlkes L, Tyshaieva A, Damagnez M, Strelow D, Duplessis A, Nicolai J, Wienemann T, Tamayo T, Kohns Vasconcelos M, Hülse L, Hoffmann K, Lübke N, Hauka S, Andree M, Däumer MP, Thielen A, Kolbe-Busch S, Göbels K, Zotz R, Pfeffer K, Timm J, Dilthey AT (2022) German COVID-19 OMICS Initiative (DeCOI). Characterization of Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) Infection Clusters Based on Integrated Genomic Surveillance, Outbreak Analysis and Contact Tracing in an Urban Setting. Clin Infect Dis. 2022 Mar 23;74(6):1039-1046. doi: 10.1093/cid/ciab588. PMID: 34181711; PMCID: PMC8406867.

2021

• Appelhof B, Wagner M, Hoefele J, Heinze A, Roser T, Koch-Hogrebe M, Roosendaal SD, Dehghani M, Mehrjardi MYV, Torti E, Houlden H, Maroofian R, Rajabi F, Sticht H, Baas F, Wieczorek D, Jamra RA. (2021) Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1. Eur J Hum Genet. 2021 Mar;29(3):411-421. doi: 10.1038/s41431-020-00749-x. Epub 2020 Nov 9. PMID: 33168985; PMCID: PMC7940488.
• Aschenbrenner AC, Mouktaroudi M, Krämer B, Oestreich M, Antonakos N, Nuesch-Germano M, Gkizeli K, Bonaguro L, Reusch N, Baßler K, Saridaki M, Knoll R, Pecht T, Kapellos TS, Doulou S, Kröger C, Herbert M, Holsten L, Horne A, Gemünd ID, Rovina N, Agrawal S, Dahm K, van Uelft M, Drews A, Lenkeit L, Bruse N, Gerretsen J, Gierlich J, Becker M, Händler K, Kraut M, Theis H, Mengiste S, De Domenico E, Schulte-Schrepping J, Seep L, Raabe J, Hoffmeister C, ToVinh M, Keitel V, Rieke G, Talevi V, Skowasch D, Aziz NA, Pickkers P, van de Veerdonk FL, Netea MG, Schultze JL, Kox M, Breteler MMB, Nattermann J, Koutsoukou A, Giamarellos-Bourboulis EJ, Ulas T (2021) German COVID-19 Omics Initiative (DeCOI). Disease severity-specific neutrophil signatures in blood transcriptomes stratify COVID-19 patients. Genome Med. 2021 Jan 13;13(1):7. doi: 10.1186/s13073-020-00823-5..
• Averdunk L, Sticht H, Surowy H, Lüdecke H-J, Koch-Hogrebe M, Alsaif HS, Kahrizi K, Alzaidan H, Alawam BS, Tohary M, Kraus C, Endele S, Wadman E, Kaplan JD, Efthymiou S, Najmabadi H, Reis A, Alkuraya FS, Wieczorek D (2021) The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype. J Mol Med (2021). doi.org/10.1007/s00109-021-02124-9
• Bhim A, Sutter JP, Gopalakrishnan J, Natarajan S. Stuffed Tridymite Structures: Synthesis, Structure, Second Harmonic Generation, Optical, and Multiferroic Properties. Chemistry. 2021 Jan 26;27(6):1995-2008. doi: 10.1002/chem.202004078. Epub 2021 Jan 14. PMID: 33230906.
• Brock S, Vanderhasselt T, Vermaning S, Keymolen K, Régal L, Romaniello R, Wieczorek D, Storm TM, Schaeferhoff K, Hehr U, Kuechler A, Krägeloh-Mann I, Haack TB, Kasteleijn E, Schot R, Mancini GMS, Webster R, Mohammad S, Leventer RJ, Mirzaa G, Dobyns WB, Bahi-Buisson N, Meuwissen M, Jansen AC, Stouffs K (2021) Defining the phenotypical spectrum associated with variants in TUBB2A. J Med Genet. 2021 Jan;58(1):33-40. doi: 10.1136/jmedgenet-2019-106740. Epub 2020 Jun 22. PMID: 32571897 Free article.
• Brunet T, McWalter K, Mayerhanser K, Anbouba GM, Armstrong-Javors A, Bader I, Baugh E, Begtrup A, Bupp CP, Callewaert BL, Cereda A, Cousin MA, Del Rey Jimenez JC, Demmer L, Dsouza NR, Fleischer N, Gavrilova RH, Ghate S, Graf E, Green A, Green SR, Iascone M, Kdissa A, Klee D, Klee EW, Lancaster E, Lindstrom K, Mayr JA, McEntagart M, Meeks NJL, Mittag D, Moore H, Olsen AK, Ortiz D, Parsons G, Pena LDM, Person RE, Punj S, Ramos-Rivera GA, Sacoto MJG, Bradley Schaefer G, Schnur RE, Scott TM, Scott DA, Serbinski CR, Shashi V, Siu VM, Stadheim BF, Sullivan JA, Švantnerová J, Velsher L, Wargowski DS, Wentzensen IM, Wieczorek D, Winkelmann J, Yap P, Zech M, Zimmermann MT, Meitinger T, Distelmaier F, Wagner M. (2021) Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder. Genet Med. 2021 Feb;23(2):384-395. doi: 10.1038/s41436-020-00993-y. Epub 2020 Nov 11. PMID: 33173220; PMCID: PMC7862064.
• Duncan AR, Polovitskaya MM, Gaitán-Peñas H, Bertelli S, VanNoy GE, Grant PE, O’Donnell-Luria A, Valivullah Z, Kern Lovgren A, England EM, Agolini E, Schmitz-Abe K, Hawley P, Novelli A, Alfieri P, Colafati GS, Wieczorek D, Platzer K, Luppe J, Koch-Hogrebe M, Abou Jamra R, Neira-Fresneda J, Lehman A, Boerkoel CF, Seath K, Clarke L, CAUSES Study, van Ierland Y, Argilli E, Sherr EH, Maiorana A, Diel T, Hempel M, Bierhals T, Estévez R, Jentsch TJ, Pusch M, Agrawal PB (2021) Unique variants in CLCN3, encoding an endosomal proton/anion exchanger, underlie a spectrum of neurodevelopmental disorders. Am. J. Hum. Genet., doi.org/10.1016/j.ajhg.2021.06.003.
• Elbracht M, Meyer R, Kricheldorf K, Gezer D, Thomas E, Betz B, Kurth I, Teichmann LL, Brümmendorf TH, Germing U, Isfort S, Koschmieder S. (2021) Germline variants in DNA repair genes, including BRCA1/2, may cause familial myeloproliferative neoplasms. Blood Adv. 2021 Sep 14;5(17):3373-3376. doi: 10.1182/bloodadvances.2021004811. PMID: 34477817; PMCID: PMC8525218.
• Föhrenbach M, Jamra RA, Borkhardt A, Brozou T, Muschke P, Popp B, Rey LK, Schaper J, Surowy H, Zenker M, Zweier C, Wieczorek D*, Redler S*. QRICH1 variants in Ververi-Brady syndrome-delineation of the genotypic and phenotypic spectrum. (2021) Clin Genet. 2021 Jan;99(1):199-207. doi: 10.1111/cge.13853. Epub 2020 Nov 10.
• Gabriel E, Albanna W, Pasquini G, Ramani A, Josipovic N, Mariappan A, Schinzel F, Karch CM, Bao G, Gottardo M, Suren AA, Hescheler J, Nagel-Wolfrum K, Persico V, Rizzoli SO, Altmüller J, Riparbelli MG, Callaini G, Goureau O, Papantonis A, Busskamp V, Schneider T, Gopalakrishnan J. Human brain organoids assemble functionally integrated bilateral optic vesicles. Cell Stem Cell. 2021 Oct 7;28(10):1740-1757.e8. doi: 10.1016/j.stem.2021.07.010. Epub 2021 Aug 17. PMID: 34407456.
• Gangfuß A, Yigit G, Altmüller J, Nürnberg P, Czeschik JC, Wollnik B, Bögershausen N, Burfeind P, Wieczorek D, Kaiser F, Roos A, Kölbel H, Schara-Schmidt U, Kuechler A. (2021) Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: A clinical longitudinal study. Am J Med Genet A. 2021 Apr;185(4):1216-1221. doi: 10.1002/ajmg.a.62070. Epub 2021 Jan 11. PMID: 33427397.
• Goranci-Buzhala G, Mariappan A, Ricci-Vitiani L, Josipovic N, Pacioni S, Gottardo M, Ptok J, Schaal H, Callaini G, Rajalingam K, Dynlacht B, Hadian K, Papantonis A, Pallini R, Gopalakrishnan J. Cilium induction triggers differentiation of glioma stem cells. Cell Rep. 2021 Sep 7;36(10):109656. doi: 10.1016/j.celrep.2021.109656. PMID: 34496239.
• Hanker B, Gillessen-Kaesbach G, Hüning I, Lüdecke HJ, Wieczorek D. (2021) Maternal transmission of a mild Coffin-Siris syndrome phenotype caused by a SOX11 missense variant. Eur J Hum Genet. 2021 Mar 31. doi: 10.1038/s41431-021-00865-2. Epub ahead of print. PMID: 33785884.
• Hesse J, Siekierka-Harreis M, Steckel B, Alter C, Schallehn M, Honke N, Schnieringer ML, Wippich M, Braband R, Schneider M, Surowy H, Wieczorek D, Schrader J, Pongratz G. (2021) Profound inhibition of CD73-dependent formation of anti-inflammatory adenosine in B cells of SLE patients. EBioMedicine. 2021 Oct 16;73:103616. doi: 10.1016/j.ebiom.2021.103616. Epub ahead of print. PMID: 34666225; PMCID: PMC8524755.
• Höppner J, Lais S, Roll C, Wegener-Panzer A, Wieczorek D, Högler W, Grasemann C. (2021) Case Report: Severe Neonatal Course in Paternally Derived Familial Hypocalciuric Hypercalcemia. Front. Endocrinol., 01 October 2021, https://doi.org/10.3389/fendo.2021.700612.
• Houwaart T, Belhaj S, Tawalbeh E, Nagels D, Finzer P, Fröhlich Y, Benmoumene A, Asskali D, Haidar H, Dahlen J, Nicolai J, Stiller L, Blum J, Lange C, Adelmann C, Schroer B, Osmers U, Grice C, Kirfel P, Jomaa H, Strelow D, Hülse L, Pigulla M, Kreuzer P, Tyshaieva A, Weber J, Wienemann T, Vasconcelos MK, Hoffmann K, Lübke N, Hauka S, Andree M, Scholz CJ, Jazmati N, Göbels K, Zotz R, Pfeffer K, Timm J, Ehlkes L, Walker A, Dilthey AT, German COVID-19 OMICS Initiative (DeCOI). (2021) Integrated Genomic Surveillance reveals extensive onward transmission of travel-imported SARS-CoV-2 infections in the community. doi: doi.org/10.1101/2021.10.18.21264530.
• Jäger P, Geyh S, Twarock S, Cadeddu RP, Rabes P, Koch A, Maus U, Hesper T, Zilkens C, Rautenberg C, Bormann F, Köhrer K, Petzsch P, Wieczorek D, Betz B, Surowy H, Hildebrandt B, Germing U, Kobbe G, Haas R, Schroeder T. (2021) Acute myeloid leukemia-induced functional inhibition of healthy CD34+ hematopoietic stem and progenitor cells. Stem Cells. 2021 May 20. doi: 10.1002/stem.3387. PMID: 34013984.
• Johannesen KM, Liu Y, Koko M, Gjerulfsen CE, Sonnenberg L, Schubert J, Fenger CD, Eltokhi A, Rannap M, Koch NA, Lauxmann S, Krüger J, Kegele J, Canafoglia L, Franceschetti S, Mayer T, Rebstock J, Zacher P, Ruf S, Alber M, Sterbova K, Lassuthová P, Vlckova M, Lemke JR, Platzer K, Krey I, Heine C, Wieczorek D, Kroell-Seger J, Lund C, Klein KM, Billie Au PY, Rho JM, Ho AW, Masnada S, Veggiotti P, Giordano L, Accorsi P, Hoei-Hansen CE, Striano P, Zara F, Verhelst H, Verhoeven JS, van der Zwaag B, Harder AVE, Brilstra E, Pendziwiat M, Lebon S, Vaccarezza M, Minh Le N, Christensen J, Grønborg S, Scherer SW, Howe J, Fazeli W, Howell KB, Leventer R, Stutterd C, Walsh S, Gerard M, Gerard B, Matricardi S, Bonardi CM, Sartori S, Berger A, Hoffman-Zacharska D, Mastrangelo M, Darra F, Vøllo A, Motazacker MM, Lakeman P, Nizon M, Betzler C, Altuzarra C, Caume R, Roubertie A, Gélisse P, Marini C, Guerrini R, Bilan F, Tibussek D, Koch-Hogrebe M, Perry MS, Ichikawa S, Dadali E, Sharkov A, Mishina I, Abramov M, Kanivets I, Korostelev S, Kutsev S, Wain KE, Eisenhauer N, Wagner M, Savatt JM, Müller-Schlüter K, Bassan H, Borovikov A, Nassogne MC, Destrée A, Schoonjans AS, Meuwissen M, Buzatu M, Jansen A, Scalais E, Srivastava S, Tan WH, Olson HE, Loddenkemper T, Poduri A, Helbig KL, Helbig I, Fitzgerald MP, Goldberg EM, Roser T, Borggraefe I, Brünger T, May P, Lal D, Lederer D, Rubboli G, Heyne HO, Lesca G, Hedrich UBS, Benda J, Gardella E, Lerche H, Møller RS (2021) Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications. Brain. 2021 Aug 25:awab321. doi: 10.1093/brain/awab321. Epub ahead of print. PMID: 34431999.
• Krämer B, Knoll R, Bonaguro L, ToVinh M, Raabe J, Astaburuaga-García R, Schulte-Schrepping J, Kaiser KM, Rieke GJ, Bischoff J, Monin MB, Hoffmeister C, Schlabe S, De Domenico E, Reusch N, Händler K, Reynolds G, Blüthgen N, Hack G, Finnemann C, Nischalke HD, Strassburg CP, Stephenson E, Su Y, Gardner L, Yuan D, Chen D, Goldman J, Rosenstiel P, Schmidt SV, Latz E, Hrusovsky K, Ball AJ, Johnson JM, Koenig PA, Schmidt FI, Haniffa M, Heath JR, Kümmerer BM, Keitel V, Jensen B, Stubbemann P, Kurth F, Sander LE, Sawitzki B; Deutsche COVID-19 OMICS Initiative (DeCOI), Aschenbrenner AC, Schultze JL, Nattermann J. (2021) Early IFN-α signatures and persistent dysfunction are distinguishing features of NK cells in severe COVID-19. Immunity. 2021 Sep 4:S1074-7613(21)00365-4. doi: 10.1016/j.immuni.2021.09.002. Epub ahead of print. PMID: 34592166; PMCID: PMC8416549.
• Lausberg E, Gießelmann S, Dewulf JP, Wiame E, Holz A, Salvarinova R, van Karnebeek CD, Klemm P, Ohl K, Mull M, Braunschweig T, Weis J, Sommer CJ, Demuth S, Haase C, Stollbrink-Peschgens C, Debray FG, Libioulle C, Choukair D, Oommen PT, Borkhardt A, Surowy H, Wieczorek D, Wagner N, Meyer R, Eggermann T, Begemann M, Van Schaftingen E, Häusler M, Tenbrock K, van den Heuvel L, Elbracht M, Kurth I, Kraft F. (2021) C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation. J Clin Invest. 2021 May 4:143078. doi: 10.1172/JCI143078. PMID: 33945503.
• Mann N, Mzoughi S, Schneider R, Kühl SJ, Schanze D, Klämbt V, Lovric S, Mao Y, Shi S, Tan W, Kühl M, Onuchic-Whitford AC, Treimer E, Kitzler TM, Kause F, Schumann S, Nakayama M, Buerger F, Shril S, van der Ven AT, Majmundar AJ, Holton KM, Kolb A, Braun DA, Rao J, Jobst-Schwan T, Mildenberger E, Lennert T, Kuechler A, Wieczorek D, Gross O, Ermisch-Omran B, Werberger A, Skalej M, Janecke AR, Soliman NA, Mane SM, Lifton RP, Kadlec J, Guccione E, Schmeisser MJ, Zenker M, Hildebrandt F. (2021) Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome. J Am Soc Nephrol. 2021 Mar;32(3):580-596. doi: 10.1681/ASN.2020040490. Epub 2021 Feb 16.
• Mariappan A, Goranci-Buzhala G, Ricci-Vitiani L, Pallini R, Gopalakrishnan J. Trends and challenges in modeling glioma using 3D human brain organoids. Cell Death Differ. 2021 Jan;28(1):15-23. doi: 10.1038/s41418-020-00679-7. Epub 2020 Dec 1. PMID: 33262470; PMCID: PMC7707134.
• Parenti I, Mallozzi MB, Hüning I, Gervasini C, Kuechler A, Agolini E, Albrecht B, Baquero-Montoya C, Bohring A, Bramswig NC, Busche A, Dalski A, Guo Y, Hanker B, Hellenbroich Y, Horn D, Innes AM, Leoni C, Li YR, Lynch SA, Mariani M, Medne L, Mikat B, Milani D, Onesimo R, Ortiz-Gonzalez X, Prott EC, Reutter H, Rossier E, Selicorni A, Wieacker P, Wilkens A, Wieczorek D, Zackai EH, Zampino G, Zirn B, Hakonarson H, Deardorff MA, Gillessen-Kaesbach G, Kaiser FJ (2021) ANKRD11 variants: KBG syndrome and beyond. Clin Genet. 2021 May 5. doi: 10.1111/cge.13977. Epub ahead of print. PMID: 33955014.
• Ramani A, Pranty AI, Gopalakrishnan J. Neurotropic Effects of SARS-CoV-2 Modeled by the Human Brain Organoids. Stem Cell Reports. 2021 Mar 9;16(3):373-384. doi: 10.1016/j.stemcr.2021.02.007. Epub 2021 Feb 12. PMID: 33631123; PMCID: PMC7879157.
• Schmetz A, Amiel J, Wieczorek D. (2021) Genetics of craniofacial malformations. Semin Fetal Neonatal Med. 2021 Dec;26(6):101290. doi: 10.1016/j.siny.2021.101290. Epub 2021 Sep 17. PMID: 34561177.
• Schmidt J, Goergens J, Pochechueva T, Kotter A, Schwenzer N, Sitte M, Werner G, Altmüller J, Thiele H, Nürnberg P, Isensee J, Li Y, Müller C, Leube B, Reinhardt HC, Hucho T, Salinas G, Helm M, Jachimowicz RD, Wieczorek D, Kohl T, Lehnart SE, Yigit G, Wollnik B. Biallelic variants in YRDC cause a developmental disorder with progeroid features (2021) Hum Genet. 2021 Sep 20. doi: 10.1007/s00439-021-02347-3. Epub ahead of print. PMID: 34545459.
• Seppälä TT, Dominguez-Valentin M, Crosbie EJ, Engel C, Aretz S, Macrae F, Winship I, Capella G, Thomas H, Hovig E, Nielsen M, Sijmons RH, Bertario L, Bonanni B, Tibiletti MG, Cavestro GM, Mints M, Gluck N, Katz L, Heinimann K, Vaccaro CA, Green K, Lalloo F, Hill J, Schmiegel W, Vangala D, Perne C, Strauß HG, Tecklenburg J, Holinski-Feder E, Steinke-Lange V, Mecklin JP, Plazzer JP, Pineda M, Navarro M, Vida JB, Kariv R, Rosner G, Piñero TA, Pavicic W, Kalfayan P, Ten Broeke SW, Jenkins MA, Sunde L, Bernstein I, Burn J, Greenblatt M, de Vos Tot Nederveen Cappel WH, Della Valle A, Lopez-Koestner F, Alvarez K, Büttner R, Görgens H, Morak M, Holzapfel S, Hüneburg R, von Knebel Doeberitz M, Loeffler M, Redler S, Weitz J, Pylvänäinen K, Renkonen-Sinisalo L, Lepistö A, Hopper JL, Win AK, Lindor NM, Gallinger S, Le Marchand L, Newcomb PA, Figueiredo JC, Thibodeau SN, Therkildsen C, Wadt KAW, Mourits MJE, Ketabi Z, Denton OG, Rødland EA, Vasen H, Neffa F, Esperon P, Tjandra D, Möslein G, Rokkones E, Sampson JR, Evans DG, Møller P (2021) Uptake of hysterectomy and bilateral salpingo-oophorectomy in carriers of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report. Eur J Cancer. 2021 May;148:124-133. doi: 10.1016/j.ejca.2021.02.022. Epub 2021 Mar 17. PMID: 33743481.
• Singh Y, Trautwein C, Fendel R, Krickeberg N, Berezhnoy G, Bissinger R, Ossowski S, Salker MS, Casadei N, Riess O; Deutsche COVID-19 OMICS Initiative (DeCOI) (2021) SARS-CoV-2 infection paralyzes cytotoxic and metabolic functions of the immune cells. Heliyon. 2021 May 28:e07147. doi: 10.1016/j.heliyon.2021.e07147. Online ahead of print. PMID: 34075347.
• Sproll KC, Schorn LK, Reising B, Schumacher S, Lommen J, Kübler NR, Knoefel WT, Beier M, Neves RP, Behrens B, Horny K, Stoecklein NH (2021) Genetic analysis of single disseminated tumor cells in the lymph nodes and bone marrow of patients with head and neck squamous cell carcinoma. Mol Oncol. 2022 Jan;16(2):333-346. doi: 10.1002/1878-0261.13113. Epub 2021 Oct 31. PMID: 34719102; PMCID: PMC8763651.
• Tigges J, Bielec K, Brockerhoff G, Hildebrandt B, Hübenthal U, Kapr J, Koch K, Teichweyde N, Wieczorek D, Rossi A, Fritsche E. (2021) Academic application of Good Cell Culture Practice for induced pluripotent stem cells. ALTEX. 2021 May 6. doi: 10.14573/altex.2101221. Online ahead of print. PMID: 33963415.
• Warnat-Herresthal S, Schultze H, Shastry KL, Manamohan S, Mukherjee S, Garg V, Sarveswara R, Händler K, Pickkers P, Aziz NA, Ktena S, Tran F, Bitzer M, Ossowski S, Casadei N, Herr C, Petersheim D, Behrends U, Kern F, Fehlmann T, Schommers P, Lehmann C, Augustin M, Rybniker J, Altmüller J, Mishra N, Bernardes JP, Krämer B, Bonaguro L, Schulte-Schrepping J, De Domenico E, Siever C, Kraut M, Desai M, Monnet B, Saridaki M, Siegel CM, Drews A, Nuesch-Germano M, Theis H, Heyckendorf J, Schreiber S, Kim-Hellmuth S; COVID-19 Aachen Study (COVAS), Nattermann J, Skowasch D, Kurth I, Keller A, Bals R, Nürnberg P, Rieß O, Rosenstiel P, Netea MG, Theis F, Mukherjee S, Backes M, Aschenbrenner AC, Ulas T; Deutsche COVID-19 Omics Initiative (DeCOI), Breteler MMB, Giamarellos-Bourboulis EJ, Kox M, Becker M, Cheran S, Woodacre MS, Goh EL, Schultze JL (2021) Swarm Learning for decentralized and confidential clinical machine learning. Nature 2021 May 26. doi: 10.1038/s41586-021-03583-3. Online ahead of print. PMID: 34040261.
• Westphal D, Garzarolli M, Sergon M, Horak P, Hutter B, Becker JC, Wiegel M, Maczey E, Blum S, Grosche-Schlee S, Rütten A, Ugurel S, Stenzinger A, Glimm H, Aust D, Baretton G, Beissert S, Fröhling S, Redler S, Surowy H, Meier F (2021) High tumour mutational burden and EGFR/MAPK pathway activation are therapeutic targets in metastatic porocarcinoma. Br J Dermatol. 2021 Dec;185(6):1186-1199. doi: 10.1111/bjd.20604. Epub 2021 Aug 18. PMID: 34185311.
• White SM, Bhoj E, Nellåker C, Lachmeijer AMA, Marshall AE, Boycott KM, Li D, Smith W, Hartley T, McBride A, Ernst ME, May AS, Wieczorek D, Abou Jamra R, Koch-Hogrebe M, Õunap K, Pajusalu S, van Gassen KLI, Sadedin S, Ellingwood S, Tan TY, Christodoulou J, Barea J, Lockhart PJ; Care4Rare Canada Consortium, Nezarati MM, Kernohan KD (2021) A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome. Am J Hum Genet. 2021 Mar 16:S0002-9297(21)00091-4. doi: 10.1016/j.ajhg.2021.03.007. Epub ahead of print. PMID: 33743206.
• Woods AD, Berlow NE, Ortiz MV, Dela Cruz F, Siddiquee A, Coutinho DF, Purohit R, Freier KET, Michalek JE, Lathara M, Matlock K, Srivivasa G, Royer-Pokora B, Veselska R, Kung AL, Keller C. (2021) Bromodomain 4 inhibition leads to MYCN downregulation in Wilms tumor. Pediatr Blood Cancer. 2021 Oct 24:e29401. doi: 10.1002/pbc.29401. Epub ahead of print. PMID: 34693628.

2020

• Averdunk L, Bernhagen J, Fehnle K, Surowy H, Lüdecke HJ, Mucha S, Meybohm P, Wieczorek D, Leng L, Marx G, Leaf DE, Zarbock A, Zacharowski K, On Behalf Of The RIPHeart Study Collaborators, Bucala R, Stoppe C. (2020) The Macrophage Migration Inhibitory Factor (MIF) Promoter Polymorphisms (rs3063368, rs755622) Predict Acute Kidney Injury and Death after Cardiac Surgery. J Clin Med. 2020 Sep 11;9(9):E2936. doi: 10.3390/jcm9092936. PMID: 32932965
• Baertling F, Wagner M, Brunet T, Sabir H, Wieczorek D, Meitinger T, Meissner T, Distelmaier F. (2020) Fatal metabolic decompensation in carbonic anhydrase VA deficiency despite early treatment and control of hyperammonemia. Genet Med. 2020 Mar;22(3):654-655. doi: 10.1038/s41436-019-0677-9. Epub 2019 Oct 22.
• Bernardes JP, Mishra N, Tran F, Bahmer T, Best L, Blase JI, Bordoni D, Franzenburg J, Geisen U, Josephs-Spaulding J, Köhler P, Künstner A, Rosati E, Aschenbrenner AC, Bacher P, Baran N, Boysen T, Brandt B, Bruse N, Dörr J, Dräger A, Elke G, Ellinghaus D, Fischer J, Forster M, Franke A, Franzenburg S, Frey N, Friedrichs A, Fuß J, Glück A, Hamm J, Hinrichsen F, Hoeppner MP, Imm S, Junker R, Kaiser S, Kan YH, Knoll R, Lange C, Laue G, Lier C, Lindner M, Marinos G, Markewitz R, Nattermann J, Noth R, Pickkers P, Rabe KF, Renz A, Röcken C, Rupp J, Schaffarzyk A, Scheffold A, Schulte-Schrepping J, Schunk D, Skowasch D, Ulas T, Wandinger KP, Wittig M, Zimmermann J, Busch H, Hoyer BF, Kaleta C, Heyckendorf J, Kox M, Rybniker J, Schreiber S, Schultze JL, Rosenstiel P; HCA Lung Biological Network; Deutsche COVID-19 Omics Initiative (DeCOI) (2020) Longitudinal Multi-omics Analyses Identify Responses of Megakaryocytes, Erythroid Cells, and Plasmablasts as Hallmarks of Severe COVID-19. Immunity. 2020 Dec 15;53(6):1296-1314.e9. doi: 10.1016/j.immuni.2020.11.017. Epub 2020 Nov 26.
• Crisà E, Kulasekararaj AG, Adema V, Such E, Schanz J, Haase D, Shirneshan K, Best S, Mian SA, Kizilors A, Cervera J, Lea N, Ferrero D, Germing U, Hildebrandt B, Martínez ABV, Santini V, Sanz GF, Solé F, Mufti GJ. (2020) Impact of somatic mutations in myelodysplastic patients with isolated partial or total loss of chromosome 7. Leukemia. 2020 Feb 17. doi: 10.1038/s41375-020-0728-x. [Epub ahead of print]
• Dominguez-Valentin M, Sampson JR, Seppälä TT, Ten Broeke SW, Plazzer JP, Nakken S, Engel C, Aretz S, Jenkins MA, Sunde L, Bernstein I, Capella G, Balaguer F, Thomas H, Evans DG, Burn J, Greenblatt M, Hovig E, de Vos Tot Nederveen Cappel WH, Sijmons RH, Bertario L, Tibiletti MG, Cavestro GM, Lindblom A, Della Valle A, Lopez-Köstner F, Gluck N, Katz LH, Heinimann K, Vaccaro CA, Büttner R, Görgens H, Holinski-Feder E, Morak M, Holzapfel S, Hüneburg R, Knebel Doeberitz MV, Loeffler M, Rahner N, Schackert HK, Steinke-Lange V, Schmiegel W, Vangala D, Pylvänäinen K, Renkonen-Sinisalo L, Hopper JL, Win AK, Haile RW, Lindor NM, Gallinger S, Le Marchand L, Newcomb PA, Figueiredo JC, Thibodeau SN, Wadt K, Therkildsen C, Okkels H, Ketabi Z, Moreira L, Sánchez A, Serra-Burriel M, Pineda M, Navarro M, Blanco I, Green K, Lalloo F, Crosbie EJ, Hill J, Denton OG, Frayling IM, Rødland EA, Vasen H, Mints M, Neffa F, Esperon P, Alvarez K, Kariv R, Rosner G, Pinero TA, Gonzalez ML, Kalfayan P, Tjandra D, Winship IM, Macrae F, Möslein G, Mecklin JP, Nielsen M, Møller P (2020) Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database. Genet Med. 2020 Jan;22(1):15-25. doi: 10.1038/s41436-019-0596-9. Epub 2019 Jul 24.
• Fagerberg CR, Taylor A, Distelmaier F, Schrøder HD, Kibæk M, Wieczorek D, Tarnopolsky M, Brady L, Larsen MJ, Jamra RA, Seibt A, Hejbøl EK, Gade E, Markovic L, Klee D, Nagy P, Rouse N, Agarwal P, Dolinsky VW, Bakovic M (2020) Choline transporter-like 1 deficiency causes a new type of childhood-onset neurodegeneration. Brain. 2020 Jan 1;143(1):94-111. doi: 10.1093/brain/awz376.
• Goranci-Buzhala G, Mariappan A, Gabriel E, Ramani A, Ricci-Vitiani L, Buccarelli M, D’Alessandris QG, Pallini R, Gopalakrishnan J (2020) Rapid and Efficient Invasion Assay of Glioblastoma in Human Brain Organoids. Cell Reports 31, 107738, June 9, doi.org/10.1016/j.celrep.2020.107738.
• Kuendgen A, Nomdedeu M, Tuechler H, Garcia-Manero G, Komrokji RS, Sekeres MA, Della Porta MG, Cazzola M, DeZern AE, Roboz GJ, Steensma DP, Van de Loosdrecht AA, Schlenk RF, Grau J, Calvo X,  Blum S, Pereira A, Valent P, Costa D, Giagounidis A, Xicoy B, Döhner H, Platzbecker U, Pedro C, Lübbert M, Oiartzabal I, Díez-Campelo M, Cedena MT, Machherndl-Spandl S, López-Pavía M, Baldus CD, Martinez-de-Sola M, Stauder R, Merchan B, List A, Ganster C, Schroeder T, Voso MT, Pfeilstöcker M, Sill H, Hildebrandt B, Esteve J, Nomdedeu B, Cobo F, Haas R, Sole F, Germing U, Greenberg PL, Haase D, Sanz G (2020) Therapy-related myelodysplastic syndromes deserve specificdiagnostic sub-classification and risk-stratification—an approach toclassification of patients with t-MDSA. Leukemia. doi.org/10.1038/s41375-020-0917-7
• Le Duc D, Horn S, Jamra RA, Schaper J, Wieczorek D, Redler S. (2020) Novel EXOSC3 pathogenic variant results in a mild course of neurologic disease with cerebellum involvement. Eur J Med Genet. 2020 Feb;63(2):103649. doi: 10.1016/j.ejmg.2019.04.006. Epub 2019 Apr 12.
• Liu W, Stachura P, Xu HC, Umesh Ganesh N, Cox F, Wang R, Lang KS, Gopalakrishnan J, Häussinger D, Homey B, Lang PA, Pandyra AA. (2020) Repurposing the serotonin agonist Tegaserod as an anticancer agent in melanoma: molecular mechanisms and clinical implications. J Exp Clin Cancer Res. 2020 Feb 21;39(1):38. doi:10.1186/s13046-020-1539-7.
• Nimtz L, Hartmann J, Tigges J, Masjosthusmann S, Schmuck M, Keßel E, Theiss S, Köhrer K, Petzsch P, Adjaye J, Wigmann C, Wieczorek D, Hildebrandt B, Bendt F, Hübenthal U, Brockerhoff G, Fritsche E. (2020) Characterization and application of electrically active neuronal networks established from human induced pluripotent stem cell-derived neural progenitor cells for neurotoxicity evaluation. Stem Cell Res. 2020 Mar 10;45:101761. doi: 10.1016/j.scr.2020.101761. [Epub ahead of print]
• Ramani A, Müller L, Ostermann PN, Gabriel E, Abida-Islam P, Müller-Schiffmann A, Mariappan A, Goureau O, Gruell H, Walker A, Andrée M, Hauka S, Houwaart T, Dilthey A, Wohlgemuth K, Omran H, Klein F, Wieczorek D, Adams O, Timm J, Korth C, Schaal H, Gopalakrishnan J (2020) SARS‐CoV‐2 targets neurons of 3D human brain organoids. EMBO J (2020) e106230 doi.org/10.15252/embj.2020106230
• Royer-Pokora B, Busch MA, Tenbusch S, Schmidt M, Beier M, Woods AD, Thiele H, Mora J (2020) Comprehensive Biology and Genetics Compendium of Wilms Tumor Cell Lines with Different WT1 Mutations. Cancers 2021, 13(1), 60; doi.org/10.3390/cancers13010060
• Sanchez E, Laplace-Builhé B, Mau-Them FT, Richard E, Goldenberg A, Toler TL, Guignard T, Gatinois V, Vincent M, Blanchet C, Boland A, Bihoreau MT, Deleuze JF, Olaso R, Nephi W, Lüdecke HJ, Verheij JBGM, Moreau-Lenoir F, Denoyelle F, Rivière JB, Laplanche JL, Willing M, Captier G, Apparailly F, Wieczorek D, Collet C, Djouad F, Geneviève D. (2020) POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4. Genet Med. 2020 Mar;22(3):547-556. doi: 10.1038/s41436-019-0669-9. Epub 2019 Oct 24.
• Schulte-Schrepping J, Reusch N, Paclik D, Baßler K, Schlickeiser S, Zhang B, Krämer B, Krammer T, Brumhard S, Bonaguro L, De Domenico E, Wendisch D, Grasshoff M, Kapellos TS, Beckstette M, Pecht T, Saglam A, Dietrich O, Mei HE, Schulz AR, Conrad C, Kunkel D, Vafadarnejad E, Xu CJ, Horne A, Herbert M, Drews A, Thibeault C, Pfeiffer M, Hippenstiel S, Hocke A, Müller-Redetzky H, Heim KM, Machleidt F, Uhrig A, Bosquillon de Jarcy L, Jürgens L, Stegemann M, Glösenkamp CR, Volk HD, Goffinet C, Landthaler M, Wyler E, Georg P, Schneider M, Dang-Heine C, Neuwinger N, Kappert K, Tauber R, Corman V, Raabe J, Kaiser KM, Vinh MT, Rieke G, Meisel C, Ulas T, Becker M, Geffers R, Witzenrath M, Drosten C, Suttorp N, von Kalle C, Kurth F, Händler K, Schultze JL, Aschenbrenner AC, Li Y, Nattermann J, Sawitzki B, Saliba AE, Sander LE; Deutsche COVID-19 OMICS Initiative (DeCOI) (2020) Severe COVID-19 Is Marked by a Dysregulated Myeloid Cell Compartment. Cell. 2020 Aug 5:S0092-8674(20)30992-2. doi: 10.1016/j.cell.2020.08.001. Online ahead of print. PMID: 32810438.
• Wagner M, Skorobogatko Y, Pode-Shakked B, Powell CM, Alhaddad B, Seibt A, Barel O, Heimer G, Hoffmann C, Demmer LA, Perilla-Young Y, Remke M, Wieczorek D, Navaratnarajah T, Lichtner P, Klee D, Shamseldin HE, Al Mutairi F, Mayatepek E, Strom T, Meitinger T, Alkuraya FS, Anikster Y, Saltiel AR, Distelmaier F. (2020) Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities. Am J Hum Genet. 2020 Feb 6;106(2):246-255. doi: 10.1016/j.ajhg.2020.01.002. Epub 2020 Jan 30.
• Wieczorek D, Schlag PM (2020) Seltene Tumorerkrankungen. Onkologe 26:202-204. doi: 10.1007/s00761-020-00715-8.
• Windheuser IC, Becker J, Cremer K, Hundertmark H, Yates LM, Mangold E, Peters S, Degenhardt F, Ludwig KU, Zink AM, Lessel D, Bierhals T, Herget T, Johannsen J, Denecke J, Wohlleber E, Strom TM, Wieczorek D, Bertoli M, Colombo R, Hempel M, Engels H. (2020) Nine newly identified individuals refine the phenotype associated with MYT1L mutations. Am J Med Genet A. 2020 Feb 17. doi: 10.1002/ajmg.a.61515. [Epub ahead of print]
• Zhuang Y, Xu HC, Shinde PV, Warfsmann J, Vasilevska J, Sundaram B, Behnke K, Huang J, Hoell JI, Borkhardt A, Pfeffer K, Taha MS, Herebian D, Mayatepek E, Brenner D, Ahmadian MR, Keitel V, Wieczorek D, Häussinger D, Pandyra AA, Lang KS, Lang PA. (2020) Fragile X mental retardation protein protects against tumour necrosis factor-mediated cell death and liver injury. Gut. 2020 Jan;69(1):133-145. doi: 10.1136/gutjnl-2019-318215. Epub 2019 Aug 13.

2019

• Arul Mariappan Soni K, Schorpp K, Zhao F, Minakar A, Zheng X, Mandad S, Macheleidt I, Ramani A, Kubelka T, Dawidowski M, Golfmann K, Wason A, Yang C, Simons J, Schmalz HG, Hyman AA, Aneja R, Ullrich R, Urlaub H, Odenthal M, Büttner R, Li H, Sattler M, Hadian K, Gopalakrishnan J. (2019) Inhibition of CPAP-Tubulin interaction prevents the proliferation of centrosome amplified cancer cells. EMBO Journal Dec 10. pii: e99876. doi: 10.15252/embj.201899876
• Duhme C, Busch M, Heine E, de Torres C, Mora J, Royer-Pokora B (2919) WT1-Mutant Wilms Tumor Progression Is Associated With Diverting Clonal Mutations of CTNNB1. J Pediatr Hematol Oncol. 2019 Dec 23. doi: 10.1097/MPH.0000000000001697. [Epub ahead of print]
• Filatova A, Rey LK, Lechler MB, Schaper J, Hempel M, Posmyk R, Szczaluba K, Santen GWE, Wieczorek D, Nuber UA (2019) Mutations in SMARCB1 and in other Coffin-Siris syndrome genes lead to various brain midline defects. Nat Commun. 2019 Jul 4;10(1):2966. doi: 10.1038/s41467-019-10849-y
• Ganster C, Müller-Thomas C, Haferlach C, Strupp C, Ogata K, Germing U, Hildebrandt B, Mallo M, Lübbert M, Müller C, Solé F, Götze KS, Vandenberghe P, Göhring G, Steinmetz T, Kröger N, Platzbecker U, Söling U, Raynaud S, Shirneshan K, Schanz J, Haase D (2019) Comprehensive analysis of isolated der(1;7)(q10;p10) in a large international homogenous cohort of patients with myelodysplastic syndromes. Genes Chromosomes Cancer. 2019 Apr 17. doi: 10.1002/gcc.22760. [Epub ahead of print]
• Gopalakrishnan J (2019) The Emergence of Stem Cell‐Based Brain Organoids: Trends and Challenges. Bioessays. Aug;41(8):e1900011. doi: 10.1002/bies.201900011
• Hadisurya J, Guey S, Grangeon L, Wieczorek D, Corpechot M, Schwitalla JC, Kraemer M (2019) Moyamoya angiopathy in PHACE syndrome not associated with RNF213 variants. Childs Nerv Syst. 2019 Apr 29. doi: 10.1007/s00381-019-04145-9. [Epub ahead of print]
• Hauer NN, Popp B, Taher L, Vogl C, Dhandapany PS, Büttner C, Uebe S, Sticht H, Ferrazzi F, Ekici AB, De Luca A, Klinger P, Kraus C, Zweier C, Wiesener A, Jamra RA, Kunstmann E, Rauch A, Wieczorek D, Jung AM, Rohrer TR, Zenker M, Doerr HG, Reis A, Thiel CT (2019) Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature. Eur J Hum Genet. 2019 Feb 26. doi: 10.1038/s41431-019-0362-0. [Epub ahead of print]
• Horn S, Au M, Basel-Salmon L, Bayrak-Toydemir P, Chapin A, Cohen L, Elting MW, Graham JM, Gonzaga-Jauregui C, Konen O, Holzer M, Lemke J, Miller CE, Rey LK, Wolf NI, Weiss MM, Waisfisz Q, Mirzaa GM, Wieczorek D, Sticht H, Abou Jamra R. (2019) De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures. Brain. 2019 Aug 29. pii: awz264. doi: 10.1093/brain/awz264. [Epub ahead of print]
• Hu H, Kahrizi K, Musante L, Fattahi Z, Herwig R, Hosseini M, Oppitz C, Abedini SS, Suckow V, Larti F, Beheshtian M, Lipkowitz B, Akhtarkhavari T, Mehvari S, Otto S, Mohseni M, Arzhangi S, Jamali P, Mojahedi F, Taghdiri M, Papari E, Soltani Banavandi MJ, Akbari S, Tonekaboni SH, Dehghani H, Ebrahimpour MR, Bader I, Davarnia B, Cohen M, Khodaei H, Albrecht B, Azimi S, Zirn B, Bastami M, Wieczorek D, Bahrami G, Keleman K, Vahid LN, Tzschach A, Gärtner J, Gillessen-Kaesbach G, Varaghchi JR, Timmermann B, Pourfatemi F, Jankhah A, Chen W, Nikuei P, Kalscheuer VM, Oladnabi M, Wienker TF, Ropers HH, Najmabadi H (2019) Genetics of intellectual disability in consanguineous families. Mol Psychiatry. 2019 Jul;24(7):1027-1039. doi: 10.1038/s41380-017-0012-2. Epub 2018 Jan 4.
• Hüneburg R, Aretz S, Büttner R, Daum S, Engel C, Fechner G, Habermann JK, Heling D, Hoffmann K, Holinski-Feder E, Kloor M, von Knebel-Döberitz M, Loeffler M, Möslein G, Perne C, Redler S, Rieß O, Schmiegel W, Seufferlein T, Siebers-Renelt U, Steinke-Lange V, Tecklenburg J, Vangala D, Vilz T, Weitz J, Wiedenmann B, Strassburg CP, Nattermann J (2019) [Current recommendations for surveillance, risk reduction and therapy in Lynch syndrome patients]. Z Gastroenterol. 2019 Nov;57(11):1309-1320. doi: 10.1055/a-1008-9827. Epub 2019 Nov 18.
• Jachimowicz RD, Beleggia F, Isensee J, Velpula BB, Goergens J, Bustos MA, Doll MA, Shenoy A, Checa-Rodriguez C, Wiederstein JL, Baranes-Bachar K, Bartenhagen C, Hertwig F, Teper N, Nishi T, Schmitt A, Distelmaier F, Lüdecke HJ, Albrecht B, Krüger M, Schumacher B, Geiger T, Hoon DSB, Huertas P, Fischer M, Hucho T, Peifer M, Ziv Y, Reinhardt HC, Wieczorek D, Shiloh Y (2019) UBQLN4 Represses Homologous Recombination and Is Overexpressed in Aggressive Tumors. Cell. 2019 Jan 24;176(3):505-519.e22. doi: 10.1016/j.cell.2018.11.024. Epub 2019 Jan 3
• Kalmbach A, Schröder C, Klein-Hitpass L, Nordström K, Ulz P, Heitzer E, Speicher MR, Rahmann S, Wieczorek D, Horsthemke B, Bramswig NC (2019) Genome-Wide Analysis of the Nucleosome Landscape in Individuals with Coffin-Siris Syndrome. Cytogenet Genome Res. 2019 Oct 26. doi: 10.1159/000503266. [Epub ahead of print]
• Kim JH, Park EY, Chitayat D, Stachura DL, Schaper J, Lindstrom K, Jewett T, Wieczorek D, Draaisma JM, Sinnema M, Hoeberigs C, Hempel M, Bachman KK, Seeley AH, Stone JK, Kong HK, Vukadin L, Richard A, Shinde DN, McWalter K, Si YC, Douglas G, Lim ST, Vissers LELM, Lemaire M, Ahn EE (2019) SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes. Kidney Int. 2019 Mar 15. pii: S0085-2538(19)30167-X. doi: 10.1016/j.kint.2019.01.025. [Epub ahead of print]
• Kuhlen M, Taeubner J, Brozou T, Wieczorek D, Siebert R, Borkhardt A. (2019) Family-based germline sequencing in children with cancer. Oncogene. 2019 Feb;38(9):1367-1380. doi: 10.1038/s41388-018-0520-9. Epub 2018 Oct 10. Review.
• Kuhlen M, Wieczorek D, Siebert R, Frühwald MC (2019) How I approach hereditary cancer predisposition in a child with cancer. Pediatr Blood Cancer 2019;e27916. DOI: 10.1002/pbc.27916
• Lapart JA, Gottardo M, Cortier E, Duteyrat JL, Augière C, Mangé A, Jerber J, Solassol J, Gopalakrishnan J, Thomas J, Durand B. (2019) Dzip1 and Fam92 form a ciliary transition zone complex with cell type specific roles in Drosophila. Elife. 2019 Dec 10;8. pii: e49307
• Mariappan A, Soni K, Schorpp K, Zhao F, Minakar A, Zheng X, Mandad S, Macheleidt I, Ramani A, Kubelka T, Dawidowski M, Golfmann K, Wason A, Yang C, Simons J, Schmalz HG, Hyman AA, Aneja R, Ullrich R, Urlaub H, Odenthal M, Büttner R, Li H, Sattler M, Hadian K, Gopalakrishnan J (2019) Inhibition of CPAP-tubulin interaction prevents proliferation of centrosome-amplified cancer cells. EMBO J. 2019 Jan 15;38(2). pii: e99876. doi: 10.15252/embj.201899876. Epub 2018 Dec 10.
• Morak M, Schaefer K, Steinke-Lange V, Koehler U, Keinath S, Massdorf T, Mauracher B, Rahner N, Bailey J, Kling C, Haeusser T, Laner A, Holinski-Feder E (2919) Full-length transcript amplification and sequencing as universal method to test mRNA integrity and biallelic expression in mismatch repair genes. Eur J Hum Genet. 2019 Dec;27(12):1808-1820. doi: 10.1038/s41431-019-0472-8. Epub 2019 Jul 22.
• Renner S, Schüler H, Alawi M, Kolbe V, Rybczynski M, Woitschach R, Sheikhzadeh S, Stark VC, Olfe J, Roser E, Seggewies FS, Mahlmann A, Hempel M, Hartmann MJ, Hillebrand M, Wieczorek D, Volk AE, Kloth K, Koch-Hogrebe M, Abou Jamra R, Mitter D, Altmüller J, Wey-Fabrizius A, Petersen C, Rau I, Borck G, Kubisch C, Mir TS, von Kodolitsch Y, Kutsche K, Rosenberger G (2019) Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients. Genet Med. 2019 Jan 24. doi: 10.1038/s41436-019-0435-z. [Epub ahead of print]
• Reynhout S, Jansen S, Haesen D, van Belle S, de Munnik SA, Bongers EMHF, Schieving JH, Marcelis C, Amiel J, Rio M, Mclaughlin H, Ladda R, Sell S, Kriek M, Peeters-Scholte CMPCD, Terhal PA, van Gassen KL, Verbeek N, Henry S, Scott Schwoerer J, Malik S, Revencu N, Ferreira CR, Macnamara E, Braakman HMH, Brimble E, Ruznikov MRZ, Wagner M, Harrer P, Wieczorek D, Kuechler A, Tziperman B, Barel O, de Vries BBA, Gordon CT, Janssens V, Vissers LELM (2019) De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders. Am J Hum Genet. 2019 Jan 3;104(1):139-156. doi: 10.1016/j.ajhg.2018.12.002. Epub 2018 Dec 27.
• Richard EM, Polla DL, Assir MZ, Contreras M, Shahzad M, Khan AA, Razzaq A, Akram J, Tarar MN, Blanpied TA, Ahmed ZM, Abou Jamra R, Wieczorek D, van Bokhoven H, Riazuddin S, Riazuddin S (2019) Bi-allelic Variants in METTL5 Cause Autosomal-Recessive Intellectual Disability and Microcephaly. Am J Hum Genet. 2019 Oct 3;105(4):869-878. doi: 10.1016/j.ajhg.2019.09.007. Epub 2019 Sep 26.
• Seppälä TT, Ahadova A, Dominguez-Valentin M, Macrae F, Evans DG, Therkildsen C, Sampson J, Scott R, Burn J, Möslein G, Bernstein I, Holinski-Feder E, Pylvänäinen K, Renkonen-Sinisalo L, Lepistö A, Lautrup CK, Lindblom A, Plazzer JP, Winship I, Tjandra D, Katz LH, Aretz S, Hüneburg R, Holzapfel S, Heinimann K, Valle AD, Neffa F, Gluck N, de Vos Tot Nederveen Cappel WH, Vasen H, Morak M, Steinke-Lange V, Engel C, Rahner N, Schmiegel W, Vangala D, Thomas H, Green K, Lalloo F, Crosbie EJ, Hill J, Capella G, Pineda M, Navarro M, Blanco I, Ten Broeke S, Nielsen M, Ljungmann K, Nakken S, Lindor N, Frayling I, Hovig E, Sunde L, Kloor M, Mecklin JP, Kalager M, Møller P (2019) Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database report. Hered Cancer Clin Pract. 2019 Feb 28;17:8. doi: 10.1186/s13053-019-0106-8. eCollection 2019.
• Skowron MA, Petzsch P, Hardt K, Wagner N, Beier M, Stepanow S, Drechsler M, Rieder H, Köhrer K, Niegisch G, Hoffmann MJ, Schulz WA (2019) Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines. Sci Rep ; 9(1): 14476, 2019 Oct 09.
• Surowy HM, Giesen AK, Otte J, Büttner R, Falkenstein D, Friedl H, Meier F, Petzsch P, Wachtmeister T, Westphal D, Wieczorek D, Wruck W, Adjaye J, Rütten A, Redler S. (2019) Gene expression profiling in aggressive digital papillary adenocarcinoma sheds light on the architecture of a rare sweat gland carcinoma. Br J Dermatol. 2019 May;180(5):1150-1160. doi: 10.1111/bjd.17446. Epub 2019 Jan 20.
• Ten Broeke SW, Rodríguez-Girondo M, Suerink M, Aretz S, Bernstein I, Capellá G, Engel C, Gomez-Garcia EB, van Hest LP, von Knebel Doeberitz M, Lagerstedt-Robinson K, Letteboer TGW, Moller P, van Os TA, Pineda M, Rahner N, Olderode-Berends MJW, von Salomé J, Schackert HK, Spruijt L, Steinke-Lange V, Wagner A, Tops CMJ, Nielsen M (2019) The Apparent Genetic Anticipation in PMS2-Associated Lynch Syndrome Families Is Explained by Birth-cohort Effect. Cancer Epidemiol Biomarkers Prev. 2019 Jun;28(6):1010-1014. doi: 10.1158/1055-9965.EPI-18-0576. Epub 2019 Mar 1.
• Van der Sluijs PJ, Jansen S, Vergano SA, Adachi-Fukuda M, Alanay Y, AlKindy A, Baban A, Bayat A, Beck-Wödl S, Berry K, Bijlsma EK, Bok LA, Brouwer AFJ, van der Burgt I, Campeau PM, Canham N, Chrzanowska K, Chu YWY, Chung BHY, Dahan K, De Rademaeker M, Destree A, Dudding-Byth T, Earl R, Elcioglu N, Elias ER, Fagerberg C, Gardham A, Gener B, Gerkes EH, Grasshoff U, van Haeringen A, Heitink KR, Herkert JC, den Hollander NS, Horn D, Hunt D, Kant SG, Kato M, Kayserili H, Kersseboom R, Kilic E, Krajewska-Walasek M, Lammers K, Laulund LW, Lederer D, Lees M, López-González V, Maas S, Mancini GMS, Marcelis C, Martinez F, Maystadt I, McGuire M, McKee S, Mehta S, Metcalfe K, Milunsky J, Mizuno S, Moeschler JB, Netzer C, Ockeloen CW, Oehl-Jaschkowitz B, Okamoto N, Olminkhof SNM, Orellana C, Pasquier L, Pottinger C, Riehmer V, Robertson SP, Roifman M, Rooryck C, Ropers FG, Rosello M, Ruivenkamp CAL, Sagiroglu MS, Sallevelt SCEH, Sanchis Calvo A, Simsek-Kiper PO, Soares G, Solaeche L, Sonmez FM, Splitt M, Steenbeek D, Stegmann APA, Stumpel CTRM, Tanabe S, Uctepe E, Utine GE, Veenstra-Knol HE, Venkateswaran S, Vilain C, Vincent-Delorme C, Vulto-van Silfhout AT, Wheeler P, Wilson GN, Wilson LC, Wollnik B, Kosho T, Wieczorek D, Eichler E, Pfundt R, de Vries BBA, Clayton-Smith J, Santen GWE (2019) The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome. Genet Med. 2019 Jun;21(6):1295-1307. doi: 10.1038/s41436-018-0330-z. Epub 2018 Nov 8.

2018

• Anand Ramani Mariappan A, Gottardo M, Mandad S, Urlaub H, Avidor-Reiss T, Riparbelli M, Callaini G, Debec A, Feederle R,et al., Gopalakrishnan J. (2018) Plk1/Polo phosphorylates Sas-4 at the onset of mitosis for an efficient recruitment of pericentriolar material to centrosomes. Cell Reports. Dec 26;25(13):3618-3630.e6. doi: 10.1016/j.celrep.2018.11.102
• Bramswig NC, Bertoli-Avella AM, Albrecht B, Al Aqeel AI, Alhashem A, Al-Sannaa N, Bah M, Bröhl K, Depienne C, Dorison N, Doummar D, Ehmke N, Elbendary HM, Gorokhova S, Héron D, Horn D, James K, Keren B, Kuechler A, Ismail S, Issa MY, Marey I, Mayer M, McEvoy-Venneri J, Megarbane A, Mignot C, Mohamed S, Nava C, Philip N, Ravix C, Rolfs A, Sadek AA, Segebrecht L, Stanley V, Trautman C, Valence S, Villard L, Wieland T, Engels H, Strom TM, Zaki MS, Gleeson JG, Lüdecke HJ, Bauer P, Wieczorek D (2018) Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies). Hum Genet. 2018 Sep;137(9):753-768. doi: 10.1007/s00439-018-1929-5. Epub 2018 Aug 23.
• Bramswig NC, Buiting K, Bechtel N, Horsthemke B, Rostasy K, Wieczorek D (2018) Angelman Syndrome-Affected Individual with a Numerically Normal Karyotype and Isodisomic Paternal Uniparental Disomy of Chromosome 15 due to Maternal Robertsonian Translocation (14;15) by Monosomy Rescue. Cytogenet Genome Res. 2018 Jul 18. doi: 10.1159/000490838. [Epub ahead of print]
• Brozou T, Taeubner J, Velleuer E, Dugas M, Wieczorek D, Borkhardt A, Kuhlen M (2018) Genetic predisposition in children with cancer - affected families' acceptance of Trio-WES. Eur J Pediatr. 2018 Jan;177(1):53-60. doi: 10.1007/s00431-017-2997-6. Epub 2017 Sep 19
• Chatron N, Møller RS, Champaigne NL, Schneider AL, Kuechler A, Labalme A, Simonet T, Baggett L, Bardel C, Kamsteeg EJ, Pfundt R, Romano C, Aronsson J, Alberti A, Vinci M, Miranda MJ, Lacroix A, Marjanovic D, des Portes V, Edery P, Wieczorek D, Gardella E, Scheffer IE, Mefford H, Sanlaville D, Carvill GL, Lesca G. (2018) The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant. Ann Neurol. 2018 Apr 6. doi: 10.1002/ana.25222. [Epub ahead of print]
• Emons G, Steiner E, Vordermark D, Uleer C, Bock N, Paradies K, Ortmann O, Aretz S, Mallmann P, Kurzeder C, Hagen V, van Oorschot B, Höcht S, Feyer P, Egerer G, Friedrich M, Cremer W, Prott FJ, Horn LC, Prömpeler H, Langrehr J, Leinung S, Beckmann MW, Kimmig R, Letsch A, Reinhardt M, Alt-Epping B, Kiesel L, Menke J, Gebhardt M, Steinke-Lange V, Rahner N, Lichtenegger W, Zeimet A, Hanf V, Weis J, Mueller M, Henscher U, Schmutzler RK, Meindl A, Hilpert F, Panke JE, Strnad V, Niehues C, Dauelsberg T, Niehoff P, Mayr D, Grab D, Kreißl M, Witteler R, Schorsch A, Mustea A, Petru E, Hübner J, Rose AD, Wight E, Tholen R, Bauerschmitz GJ, Fleisch M, Juhasz-Boess I, Sigurd L, Runnebaum I, Tempfer C, Nothacker MJ, Blödt S, Follmann M, Langer T, Raatz H, Wesselmann S, Erdogan S (2018) Interdisciplinary Diagnosis, Therapy and Follow-up of Patients with Endometrial Cancer. Guideline (S3-Level, AWMF Registry Nummer 032/034-OL, April 2018) - Part 1 with Recommendations on the Epidemiology, Screening, Diagnosis and Hereditary Factors of Endometrial Cancer. Geburtshilfe Frauenheilkd. 2018 Oct;78(10):949-971. doi: 10.1055/a-0713-1218. Epub 2018 Oct 19
• Emons G, Steiner E, Vordermark D, Uleer C, Bock N, Paradies K, Ortmann O, Aretz S, Mallmann P, Kurzeder C, Hagen V, van Oorschot B, Höcht S, Feyer P, Egerer G, Friedrich M, Cremer W, Prott FJ, Horn LC, Prömpeler H, Langrehr J, Leinung S, Beckmann MW, Kimmig R, Letsch A, Reinhardt M, Alt-Epping B, Kiesel L, Menke J, Gebhardt M, Steinke-Lange V, Rahner N, Lichtenegger W, Zeimet A, Hanf V, Weis J, Mueller M, Henscher U, Schmutzler RK, Meindl A, Hilpert F, Panke JE, Strnad V, Niehues C, Dauelsberg T, Niehoff P, Mayr D, Grab D, Kreißl M, Witteler R, Schorsch A, Mustea A, Petru E, Hübner J, Rose AD, Wight E, Tholen R, Bauerschmitz GJ, Fleisch M, Juhasz-Boess I, Lax S, Runnebaum I, Tempfer C, Nothacker MJ, Blödt S, Follmann M, Langer T, Raatz H, Wesselmann S, Erdogan S (2018) Interdisciplinary Diagnosis, Therapy and Follow-up of Patients with Endometrial Cancer. Guideline (S3-Level, AWMF Registry Number 032/034-OL, April 2018) - Part 2 with Recommendations on the Therapy and Follow-up of Endometrial Cancer, Palliative Care, Psycho-oncological/Psychosocial Care/Rehabilitation/Patient Information and Healthcare Facilities. Geburtshilfe Frauenheilkd. 2018 Nov;78(11):1089-1109. doi: 10.1055/a-0715-2964. Epub 2018 Nov 26
• Engel C, Vasen HF, Seppälä T, Aretz S, Bigirwamungu-Bargeman M, de Boer SY, Bucksch K, Büttner R, Holinski-Feder E, Holzapfel S, Hüneburg R, Jacobs MAJM, Järvinen H, Kloor M, von Knebel Doeberitz M, Koornstra JJ, van Kouwen M, Langers AM, van de Meeberg PC, Morak M, Möslein G, Nagengast FM, Pylvänäinen K, Rahner N, Renkonen-Sinisalo L, Sanduleanu S, Schackert HK, Schmiegel W, Schulmann K, Steinke-Lange V, Strassburg CP, Vecht J, Verhulst ML, de Vos Tot Nederveen Cappel W, Zachariae S, Mecklin JP, Loeffler M; German HNPCC Consortium, the Dutch Lynch Syndrome Collaborative Group, and the Finnish Lynch Syndrome Registry (2018) No Difference in Colorectal Cancer Incidence or Stage at Detection by Colonoscopy Among 3 Countries With Different Lynch Syndrome Surveillance Policies. Gastroenterology. 2018 Nov;155(5):1400-1409.e2. doi: 10.1053/j.gastro.2018.07.030. Epub 2018 Jul 29
• Fritzen D, Kuechler A, Grimmel M, Becker J, Peters S, Sturm M, Hundertmark H, Schmidt A, Kreiß M, Strom TM, Wieczorek D, Haack TB, Beck-Wödl S, Cremer K, Engels H (2018) De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies. Hum Genet (2018). doi.org/10.1007/s00439-018-1892-1
• Hauer NN, Popp B, Schoeller E, Schuhmann S, Heath KE, Hisado-Oliva A, Klinger P, Kraus C, Trautmann U, Zenker M, Zweier C, Wiesener A, Abou Jamra R, Kunstmann E, Wieczorek D, Uebe S, Ferrazzi F, Büttner C, Ekici AB, Rauch A, Sticht H, Dörr HG, Reis A, Thiel CT (2018) Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature. Genet Med. 2018 Jun;20(6):630-638. doi: 10.1038/gim.2017.159. Epub 2017 Oct 12
• Hinreiner S, Wieczorek D, Mueller D, Roedl T, Thiel G, Grasshoff U, Chaoui R, Hehr U (2018): Further evidence for complex inheritance of holoprosencephaly: Lessons learned from pre- and postnataldiagnostic testing in Germany. AJMG June 2018, 178C(2):198-205
• Kaivers J, Lauseker M, Hildebrandt B, Fenaux P, Pfeilstöcker M, Valent P, Platzbecker U, Latagliata R, Oliva EN, Xicoy B, Götze K, Ganster C, Haase D, Bug G, Kündgen A, Gattermann N, Haas R, Germing U (2018) The IPSS-R has prognostic impact in untreated patients with MDS del(5q). Leuk Res. 2018 Sep;72:27-33. doi: 10.1016/j.leukres.2018.07.019. Epub 2018 Jul 23.
• Kayser K, Degenhardt F, Holzapfel S, Horpaopan S, Peters S, Spier I, Morak M, Vangala D, Rahner N, von Knebel-Doeberitz M, Schackert HK, Engel C, Büttner R, Wijnen J, Doerks T, Bork P, Moebus S, Herms S, Fischer S, Hoffmann P, Aretz S, Steinke-Lange V (2018) Int J Cancer. 2018 Dec 1;143(11):2800-2813. doi: 10.1002/ijc.31725. Epub 2018 Oct 3. Copy number variation analysis and targeted NGS in 77 families with suspected Lynch syndrome reveals novel potential causative genes.
• Kraemer M, Huynh QB, Wieczorek D, Balliu B, Mikat B, Boehringer S (2018) Distinctive facial features in idiopathic Moyamoya disease in Caucasians: a first systematic analysis. PeerJ 6:e4740; DOI 10.7717/peerj.4740
• Kuendgen A, Müller-Thomas C, Lauseker M, Haferlach T, Urbaniak P, Schroeder T, Brings C, Wulfert M, Meggendorfer M, Hildebrandt B, Betz B, Royer-Pokora B, Gattermann N, Haas R, Germing U, Götze KS (2018) Efficacy of azacitidine is independent of molecular and clinical characteristics - an analysis of 128 patients with myelodysplastic syndromes or acute myeloid leukemia and a review of the literature. Oncotarget. 2018 Jun 12;9(45):27882-27894. doi: 10.18632/oncotarget.25328. eCollection 2018 Jun 12.
• Kumar R, Gardner A, Homan CC, Douglas E, Mefford H, Wieczorek D, Lüdecke HJ, Stark Z, Sadedin S, Broad CMG, Nowak CB, Douglas J, Parsons G, Mark P, Loidi L, Herman GE, Mihalic Mosher T, Gillespie MK, Brady L, Tarnopolsky M, Madrigal I, Eiris J, Domènech Salgado L, Rabionet R, Strom TM, Ishihara N, Inagaki H, Kurahashi H, Dudding-Byth T, Palmer EE, Field M, Gecz J (2018) Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery. Hum Mutat. 2018 May 31. doi: 10.1002/humu.23557. [Epub ahead of print]
• Laugwitz L, Redler S, Buchert R, Sturm M, Zeile I, Schara U, Wieczorek D, Haack T, Distelmaier F (2018) Isolated PREPL deficiency associated with congenital myasthenic syndrome-22. Klin Padiatr. 2018 Jun 18. doi: 10.1055/a-0605-3659. [Epub ahead of print]
• Lessel D, Gehbauer C, Bramswig NC, Schluth-Bolard C, Venkataramanappa S, van Gassen KLI, 7, Hempel M, Haack TB, Baresic A, Genetti CA, Funari MFA, Lessel I, Kuhlmann L, Simon R, Liu P, Denecke J, Kuechler A, de Kruijff I, Shoukier M, Lek M, Mullen T, Lüdecke H-J, Lerario AM, Kobbe R, Krieger T, Demeer B, Lebrun M, Keren B, Nava C, Buratti J, Afenjar A, Shinawi M, Guillen Sacoto MJ, Gauthier J, Hamdan FF, Laberge A-M, Campeau PM, Louie RJ, Cathey SS, Prinz I, Jorge AAL, Terhal PA, Lenhard B, Wieczorek D, Strom TM, Agrawal PB, Britsch S, Tolosa E, Kubisch C (2018) BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells. Brain 2018. doi: 10.1093/brain/awy173
• Meester JAN, Sukalo M, Schröder KC, Schanze D, Baynam G, Borck G, Bramswig NC, Duman D, Gilbert-Dussardier B, Holder-Espinasse M, Itin P, Johnson DS, Joss S, Koillinen H, McKenzie F, Morton J, Nelle H, Reardon W, Roll C, Salih MA, Savarirayan R, Scurr I, Splitt M, Thompson E, Titheradge H, Travers CP, Van Maldergem L, Whiteford M, Wieczorek D, Vandeweyer G, Trembath R, Van Laer L, Loeys BL, Zenker M, Southgate L, Wuyts W (2018) Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort. Hum Mutat. 2018 Jun 20. doi: 10.1002/humu.23567. [Epub ahead of print]
• Ramani A, Mariappan A, Gottardo M, Mandad S, Urlaub H, Avidor-Reiss T, Riparbelli M, Callaini G, Debec A, Feederle R, Gopalakrishnan J (2018) Plk1/Polo Phosphorylates Sas-4 at the Onset of Mitosis for an Efficient Recruitment of Pericentriolar Material to Centrosomes. Cell Rep. 2018 Dec 26;25(13):3618-3630.e6. doi: 10.1016/j.celrep.2018.11.102.
• Rautenberg C, Pechtel S, Hildebrandt B, Betz B, Dienst A, Nachtkamp K, Kondakci M, Geyh S, Wieczorek D, Haas R, Germing U, Kobbe G, Schroeder T (2018) Wilms' Tumor 1 (WT1) Expression Using a Standardized European Leukemia Net-Certified Assay Compared to Other Methods for Detection of Minimal Residual Disease in MDS and AML Patients after Allogeneic Blood Stem Cell Transplantation. Biol Blood Marrow Transplant. 2018 May 10. pii: S1083-8791(18)30263-5. doi: 10.1016/j.bbmt.2018.05.011. [Epub ahead of print]
• Reijnders MRF, Miller KA, Mohsan A, Goos JAC, Lees MM, de Burca A, Henderson A, Kraus A, Mikat B, de Vries BBA, Isidor B, Kerr B, Marcelis C, Schluth-Bolard C, Deshpande C, Ruivenkamp CAL, Wieczorek D, The Deciphering Developmental Disorders Study, Baralle D, Blair EM, Engels H, Lüdecke H-J, Eason J, Santen GWE, Clayton-Smith J, Chandler K, Tatton-Brown K, Payne K, Helbig K, Radtke K, Nugent KM, Cremer K, Strom TM, Bird LM, Sinnema M, Bitner-Glindzicz M, van Dooren MF, Alders M, Koopmans M, Brick L, Kozenko M, Harline ML, Klaassens M, Steinraths M, Cooper NS, Edery P, Yap P, Terhal PA, van der Spek PJ, Lakeman P, Taylor RL, Littlejohn RO, Pfundt R, Mercimek-Andrews S, Stegmann APA, Kant SG, McLean S, Joss S, Swagemakers SMA, Douzgou S, Wall SA, Küry S, Calpena E, Koelling N, McGowan SJ, Twigg SRF, Mathijssen IMJ, Nellaker C, Brunner HG, Wilkie AOM (2018) De novo and inherited loss-of-function variants in TLK2: clinical and genotype-phenotype evaluation of a distinct neurodevelopmental disorder. AJHG (2018), https://doi.org/10.1016/j.ajhg.2018.04.014
• Rots D, Jakub TE, Keung C, Jackson A, Banka S, Pfundt R, de Vries BBA, van Jaarsveld RH, Hopman SMJ, van Binsbergen E, Valenzuela I, Hempel M, Bierhals T, Kortüm F, Lecoquierre F, Goldenberg A, Hertz JM, Andersen CB, Kibæk M, Prijoles EJ, Stevenson RE, Everman DB, Patterson WG, Meng L, Gijavanekar C, De Dios K, Lakhani S, Levy T, Wagner M, Wieczorek D, Benke PJ, Lopez Garcia MS, Perrier R, Sousa SB, Almeida PM, Simões MJ, Isidor B, Deb W, Schmanski AA, Abdul-Rahman O, Philippe C, Bruel AL, Faivre L, Vitobello A, Thauvin C, Smits JJ, Garavelli L, Caraffi SG, Peluso F, Davis-Keppen L, Platt D, Royer E, Leeuwen L, Sinnema M, Stegmann APA, Stumpel CTRM, Tiller GE, Bosch DGM, Potgieter ST, Joss S, Splitt M, Holden S, Prapa M, Foulds N, Douzgou S, Puura K, Waltes R, Chiocchetti AG, Freitag CM, Satterstrom FK, De Rubeis S, Buxbaum J, Gelb BD, Branko A, Kushima I, Howe J, Scherer SW, Arado A, Baldo C, Patat O, Bénédicte D, Lopergolo D, Santorelli FM, Haack TB, Dufke A, Bertrand M, Falb RJ, Rieß A, Krieg P, Spranger S, Bedeschi MF, Iascone M, Josephi-Taylor S, Roscioli T, Buckley MF, Liebelt J, Dagli AI, Aten E, Hurst ACE, Hicks A, Suri M, Aliu E, Naik S, Sidlow R, Coursimault J, Nicolas G, Küpper H, Petit F, Ibrahim V, Top D, Di Cara F; Genomics England Research Consortium; Louie RJ, Stolerman E, Brunner HG, Vissers LELM, Kramer JM, Kleefstra T. (2023) The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder. Am J Hum Genet. 2023 Jun 1;110(6):963-978. doi: 10.1016/j.ajhg.2023.04.008. Epub 2023 May 16. PMID: 37196654; PMCID: PMC10257005.
• Royer-Pokora B, Beier M, Brandt A, Duhme C, Busch M, Torres C, Royer HD, Mora J (2018) Chemotherapy and terminal skeletal muscle differentiation in WT1 mutant Wilms tumors. Cancer Med 2018 Apr;7(4):1359-1368. doi: 10.1002/cam4.1379. Epub 2018 Mar 15.
• Schuler E, Frank F, Hildebrandt B, Betz B, Strupp C, Rudelius M, Aul C, Schroeder T, Gattermann N, Haas R, Germing U. (2018) Myelodysplastic syndromes without peripheral monocytosis but with evidence of marrow monocytosis share clinical and molecular characteristics with CMML. Leuk Res. 2018 Feb;65:1-4. doi: 10.1016/j.leukres.2017.12.002. Epub 2017 Dec 5
• Taeubner J, Wieczorek D, Yasin L, Brozou T, Borkhardt A, Kuhlen M (2018) Penetrance and Expressivity in Inherited Cancer Predisposing Syndromes. Trends Cancer 2018 Nov;4(11):718-728. doi: 10.1016/j.trecan.2018.09.002. Epub 2018 Sep 20
• Tafazzoli A, Forstner AJ, Broadley D, Hofmann A, Redler S, Petukhova L, Giehl KA, Kruse R, Blaumeiser B, Böhm M, Bertolini M, Rossi A, Garcia Bartels N, Lutz G, Wolff H, Blume-Peytavi U, Soreq H, Christiano AM, Botchkareva NV, Nöthen MM, Betz RC (2018) Genome-Wide MicroRNA Analysis Implicates miR-30b/d in the Etiology of Alopecia Areata. J Invest Dermatol. 2018 Mar;138(3):549-556. doi: 10.1016/j.jid.2017.09.046. Epub 2017 Dec 6
• Ten Broeke SW, van der Klift HM, Tops CMJ, Aretz S, Bernstein I, Buchanan DD, de la Chapelle A, Capella G, Clendenning M, Engel C, Gallinger S, Gomez Garcia E, Figueiredo JC, Haile R, Hampel HL, Hopper JL, Hoogerbrugge N, von Knebel Doeberitz M, Le Marchand L, Letteboer TGW, Jenkins MA, Lindblom A, Lindor NM, Mensenkamp AR, Møller P, Newcomb PA, van Os TAM, Pearlman R, Pineda M, Rahner N, Redeker EJW, Olderode-Berends MJW, Rosty C, Schackert HK, Scott R, Senter L, Spruijt L, Steinke-Lange V, Suerink M, Thibodeau S, Vos YJ, Wagner A, Winship I, Hes FJ, Vasen HFA, Wijnen JT, Nielsen M, Win AK (2018) Cancer Risks for PMS2-Associated Lynch Syndrome. J Clin Oncol. 2018 Oct 10;36(29):2961-2968. doi: 10.1200/JCO.2018.78.4777. Epub 2018 Aug 30
• Schanz J, Solé F, Mallo M, Luño E, Cervera J, Granada I, Hildebrandt B, Slovak ML, Ohyashiki K, Fonatsch C, Pfeilstöcker M, Nösslinger T, Valent P, Giagounidis A, Aul C, Lübbert M, Stauder R, Krieger O, Le Beau MM, Bennett JM, Greenberg P, Germing U, Haase D (2018) Clonal architecture in patients with myelodysplastic syndromes and double or minor complex abnormalities: Detailed analysis of clonal composition, involved abnormalities, and prognostic significance. Genes Chromosomes Cancer. 2018 Nov;57(11):547-556. doi: 10.1002/gcc.22667. Epub 2018 Sep 24
• Schuler E, Zadrozny N, Blum S, Schroeder T, Strupp C, Hildebrandt B, Kündgen A, Gattermann N, Aul C, Kondakci M, Kobbe G, Haas R, Germing U (2018) Long-term outcome of high risk patients with myelodysplastic syndromes or secondary acute myeloid leukemia receiving intensive chemotherapy. Ann Hematol. 2018 Dec;97(12):2325-2332. doi: 10.1007/s00277-018-3466-7. Epub 2018 Aug 4
• Vasileiou G, Vergarajauregui S, Endele S, Popp B, Büttner C, Ekici AB, Gerard M, Bramswig NC, Albrecht B, Clayton-Smith J, Morton J, Tomkins S, Low K, Weber A, Wenzel M, Altmüller J, Li Y, Wollnik B, Hoganson G, Plona MR, Cho MT, Thiel CT, Lüdecke HJ, Strom TM, Calpena E, Wilkie AOM, Wieczorek D, Engel FB, Reis A (2018) Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome. AJHG 2018 doi: 10.1016/j.ajhg.2018.01.014
• Wieczorek D (2018) Autosomal dominant intellectual disability. medgen 2018 doi.org/10.1007/s11825-018-0206-2
• Wieczorek D, Zweier C (2018) Genetik von Intelligenz und kognitiven Störungen – ein komplexes, aber relevantes Thema nicht nur für die Humangenetik. medgen 2018 doi.org/10.1007/s11825-018-0210-6

2017

• Beygo J, Küchler A, Gillessen-Kaesbach G, Albrecht B, Eckle J, Eggermann T, Gellhaus A, Kanber D, Kordaß U, Lüdecke HJ, Purmann S, Rossier E, van de Nes J, van der Werf IM, Wenzel M, Wieczorek D, Horsthemke B, Buiting K (2017) New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndrome. Eur J Hum Genet. 2017 Jun 21. doi: 10.1038/ejhg.2017.91. [Epub ahead of print]
• Binder H, Hopp L, Schweiger MR, Hoffmann S, Jühling F, Kerick M, Timmermann B, Siebert S, Grimm C, Nersisyan L, Arakelyan A, Herberg M, Buske P, Loeffler-Wirth H, Rosolowski M, Engel C, Przybilla J, Peifer M, Friedrichs N, Moeslein G, Odenthal M, Hussong M, Peters S, Holzapfel S, Nattermann J, Hueneburg R, Schmiegel W, Royer-Pokora B, Aretz S, Kloth M, Kloor M, Buettner R, Galle J, Loeffler M. Genomic and transcriptomic heterogeneity of colorectal tumours arising in Lynch syndrome. J Pathol. 2017 Jul 20. doi: 10.1002/path.4948. [Epub ahead of print] PubMed PMID: 28727142
• Bramswig NC, Caluseriu O, Lüdecke HJ, Bolduc FV, Noel NC, Wieland T, Surowy HM, Christen HJ, Engels H, Strom TM, Wieczorek D (2017) Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin-Siris syndrome-like phenotype. Hum Genet 136:297-305
• Bramswig NC, Lüdecke HJ, Hamdan FF, Altmüller J, Beleggia F, Elcioglu NH, Freyer C, Gerkes EH, Demirkol YK, Knupp KG, Kuechler A, Li Y, Lowenstein DH, Michaud JL, Park K, Stegmann AP, Veenstra-Knol HE, Wieland T, Wollnik B, Engels H, Strom TM, Kleefstra T, Wieczorek D. (2017) Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability. Hum Genet. 2017 Apr 9. doi: 10.1007/s00439-017-1795-6. [Epub ahead of print]
• Bramswig NC, Lüdecke HJ, Pettersson M, Albrecht B, Bernier RA, Cremer K, Eichler EE, Falkenstein D, Gerdts J, Jansen S, Kuechler A, Kvarnung M, Lindstrand A, Nilsson D, Nordgren A, Pfundt R, Spruijt L, Surowy HM, de Vries BB, Wieland T, Engels H, Strom TM, Kleefstra T, Wieczorek D (2017) Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism. Hum Genet 136:179-192
• Busch M, Große-Kreul J, Wirtz JJ, Beier M, Stephan H, Royer-Pokora B, Metz K, Dünker N (2017) Reduction of the tumorigenic potential of human retinoblastoma cell lines by TFF1 overexpression involves p53/caspase signaling and miR-18a regulation. Int J Cancer 141:549-560
• Busch M, Metz K, Beier M, Biewald E, Dünker N (2017): Trefoil family factor 1 (TFF1) expression correlates with clinical outcome in retinoblastoma patients. Retina 2017 Oct 6
• Dennert N, Engels H, Cremer K, Becker J, Wohlleber E, Albrecht B, Ehret JK, Lüdecke HJ, Suri M, Carignani G, Renieri A, Kukuk GM, Wieland T, Andrieux J, Strom TM, Wieczorek D, Dieux-Coëslier A, Zink AM (2017) De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations. Am J Med Genet A 173:435-443
• Fischer J, Degenhardt F, Hofmann A, Redler S, Basmanav FB, Heilmann-Heimbach S, Hanneken S, Giehl KA, Wolff H, Moebus S, Kruse R, Lutz G, Blaumeiser B, Böhm M, Garcia Bartels N, Blume-Peytavi U, Petukhova L, Christiano AM, Nöthen MM, Betz RC (2017) Genomewide analysis of copy number variants in alopecia areata in a Central European cohort reveals association with MCHR2. Exp Dermatol. 2017 Jun;26(6):536-541. doi: 10.1111/exd.13123. Epub 2017 Mar 23
• Gössling KL, Schipp C, Fischer U, Babor F, Koch G, Schuster FR, Dietzel-Dahmen J, Wieczorek D, Borkhardt A, Meisel R, Kuhlen M (2017) Hematopoietic stem Cell transplantation in an Infant with Immunodeficiency, Centromeric Instability, and Facial anomaly syndrome. Frontiers in Immunology 8. 2017 Jun 30. doi: 10.3389/fimmu.2017.00773
• Goos JAC, Swagemakers SMA, Twigg SRF, van Dooren MF, Hoogeboom AJM, Beetz C, Günther S, Magielsen FJ, Ockeloen CW, A Ramos-Arroyo M, Pfundt R, Yntema HG, van der Spek PJ, Stanier P, Wieczorek D, Wilkie AOM, van den Ouweland AMW, Mathijssen IMJ, Hurst JA (2017) Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia. Eur J Hum Genet. 2017 Oct;25(10):1126-1133. doi: 10.1038/ejhg.2017.107. Epub 2017 Jul 26
• Hauer NN, Sticht H, Boppudi S, Büttner C, Kraus C, Trautmann U, Zenker M, Zweier C, Wiesener A, Jamra RA, Wieczorek D, Kelkel J, Jung AM, Uebe S, Ekici AB, Rohrer T, Reis A, Dörr HG8, Thiel CT (2017) Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature. Sci Rep. 2017 Sep 22;7(1):12225. doi: 10.1038/s41598-017-12465-6
• Hofrichter M, Nimtz L, Tigges J, Kabiri Y, Schröter F, Royer-Pokora B, Hildebrandt B, Schmuck M, Epanchintsev A, Theiss S, Adjaye J, Egly JM, Krutmann J, Fritsche E (2017) Comparative performance analysis of human iPSC-derived and primary neural progenitor cells (NPC) grown as neurospheres in vitro. Stem Cell Res. 2017 Oct 26;25:72-82. doi: 10.1016/j.scr.2017.10.013
• Kasper BS, Dörfler A, Di Donato N, Kasper EM, Wieczorek D, Hoyer J, Zweier C (2017) Central nervous system anomalies in two females with Borjeson-Forssman-Lehmann syndrome. Epilepsy Behav. 2017 Apr;69:104-109. doi: 10.1016/j.yebeh.2017.01.022. Epub 2017 Feb 23
• Kuechler A, Czeschik JC, Graf E, Grasshoff U, Hüffmeier U, Busa T, Beck-Woedl S, Faivre L, Rivière JB, Bader I, Koch J, Reis A, Hehr U, Rittinger O, Sperl W, Haack TB, Wieland T, Engels H, Prokisch H, Strom TM, Lüdecke HJ, Wieczorek D (2017) Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition. Eur J Hum Genet 25:183-191
• Kuhlen M, Taeubner J, Wieczorek D, Borkhardt A (2017) Autism spectrum disorder and Li-Fraumeni syndrome: purely coincidental or mechanistically associated? Mol Cell Pediatr. (2017) 4:8, DOI 10.1186/s40348-017-0075-9
• Lahut S, Gispert S, Ömür Ö, Depboylu C, Seidel K, Domínguez-Bautista JA, Brehm N, Tireli H, Hackmann K, Pirkevi C, Leube B, Ries V, Reim K, Brose N, den Dunnen WF, Johnson M, Wolf Z, Schindewolf M, Schrempf W, Reetz K, Young P, Vadasz D, Frangakis AS, Schröck E, Steinmetz H, Jendrach M, Rüb U, Başak AN, Oertel W, Auburger G (2017) Blood RNA biomarkers in prodromal PARK4 and rapid eye movement sleep behavior disorder show role of complexin 1 loss for risk of Parkinson's disease. Dis Model Mech. 2017 May 1;10(5):619-631
• Loviglio MN, Leleu M, Männik K, Passeggeri M, Giannuzzi G, van der Werf I, Waszak SM, Zazhytska M, Roberts-Caldeira I, Gheldof N, Migliavacca E, Alfaiz AA, Hippolyte L, Maillard AM; 2p15 Consortium; 16p11.2 Consortium, Van Dijck A, Kooy RF, Sanlaville D, Rosenfeld JA, Shaffer LG, Andrieux J, Marshall C, Scherer SW, Shen Y, Gusella JF, Thorsteinsdottir U, Thorleifsson G, Dermitzakis ET, Deplancke B, Beckmann JS, Rougemont J, Jacquemont S, Reymond A (2017) Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes. Mol Psychiatry. 2017 Jun;22(6):836-849 (16p11.2 Consortium: Royer-Pokora B, Leube B)
• Meyer E, Carss KJ, Rankin J, Nichols JM, Grozeva D, Joseph AP, Mencacci NE, Papandreou A, Ng J, Barral S, Ngoh A, Ben-Pazi H, Willemsen MA, Arkadir D, Barnicoat A, Bergman H, Bhate S, Boys A, Darin N, Foulds N, Gutowski N, Hills A, Houlden H, Hurst JA, Israel Z, Kaminska M, Limousin P, Lumsden D, McKee S, Misra S, Mohammed SS, Nakou V, Nicolai J, Nilsson M, Pall H, Peall KJ, Peters GB, Prabhakar P, Reuter MS, Rump P, Segel R, Sinnema M, Smith M, Turnpenny P, White SM, Wieczorek D, Wiethoff S, Wilson BT, Winter G, Wragg C, Pope S, Heales SJ, Morrogh D; UK10K Consortium.; Deciphering Developmental Disorders Study.; NIHR BioResource Rare Diseases Consortium., Pittman A, Carr LJ, Perez-Dueñas B, Lin JP, Reis A, Gahl WA, Toro C, Bhatia KP, Wood NW, Kamsteeg EJ, Chong WK, Gissen P, Topf M, Dale RC, Chubb JR, Raymond FL, Kurian MA (2017) Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia. Nat Genet 49:223-237
• Meyer R, Soellner L, Begemann M, Dicks S, Fekete G, Rahner N, Zerres K, Elbracht M, Eggermann T (2017) Targeted Next Generation Sequencing Approach in Patients Referred for Silver-Russell Syndrome Testing Increases the Mutation Detection Rate and Provides Decisive Information for Clinical Management. J Pediatr. 2017 May 19. pii: S0022-3476(17)30501-2. doi: 10.1016/j.jpeds.2017.04.018. [Epub ahead of print]
• Moosa S, Böhrer-Rabel H, Altmüller J, Beleggia F, Nürnberg P, Li Y1, Yigit G, Wollnik B (2017) Smith-Kingsmore syndrome: A third family with the MTOR mutation c.5395G>A p.(Glu1799Lys) and evidence for paternal gonadal mosaicism. Am J Med Genet A. 2017 Jan;173(1):264-267. doi: 10.1002/ajmg.a.37999. Epub 2016 Oct 18
• Neukirchen J, Lauseker M, Hildebrandt B, Nolting AC, Kaivers J, Kobbe G, Gattermann N, Haas R, Germing U (2017) Cytogenetic clonal evolution in myelodysplastic syndromes is associated with inferior prognosis. Cancer. 2017 Dec 1;123(23):4608-4616. doi: 10.1002/cncr.30917. Epub 2017 Jul 26
• Parenti I, Teresa-Rodrigo ME, Pozojevic J, Ruiz Gil S, Bader I, Braunholz D, Bramswig NC, Gervasini C, Larizza L, Pfeiffer L, Ozkinay F, Ramos F, Reiz B, Rittinger O, Strom TM, Watrin E, Wendt K, Wieczorek D, Wollnik B, Baquero-Montoya C, Pié J, Deardorff MA, Gillessen-Kaesbach G, Kaiser FJ (2017) Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes. Hum Genet 136:307-320
• Rausch V, Krieg A, Camps J, Behrens B, Beier M, Wangsa D, Heselmeyer‑Haddad K, Baldus SE, Knoefel WT, Ried T, Stoecklein NH (2017) Array comparative genomic hybridization of 18 pancreatic ductal adenocarcinomas and their autologous metastases. BMC Res Notes 10:560 DOI 10.1186/s13104-017-2886-0
• Redler S, Basmanav FBÜ, Blaumeiser B, Bartels NG, Lutz G, Tafazzoli A, Kruse R, Wolff H, Böhm M, Blume-Peytavi U, Becker T, Nöthen MM, Betz RC. (2017) Parent-of-origin Effect in Alopecia Areata: A Large-scale Pedigree Study. Acta Derm Venereol. 2017 Jul 6;97(7):862-863. doi: 10.2340/00015555-2658.
• Redler S, Messenger AG, Betz RC. (2017) Genetics and other factors in the aetiology of female pattern hair loss. Exp Dermatol. 2017 Jun;26(6):510-517. doi: 10.1111/exd.13373. Review.
• Redler S, Strom TM, Wieland T, Cremer K, Engels H, Distelmaier F, Schaper J, Küchler A, Lemke JR, Jeschke S, Schreyer N, Sticht H, Koch M, Lüdecke HJ, Wieczorek D (2017) Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and ID. Eur J Hum Genet. 2017 Jun;25(7):889-893. doi: 10.1038/ejhg.2017.52. Epub 2017 Apr 19.
• Reuter MS, Tawamie H, Buchert R, Hosny Gebril O, Froukh T, Thiel C, Uebe S, Ekici AB, Krumbiegel M, Zweier C, Hoyer J, Eberlein K, Bauer J, Scheller U, Strom TM, Hoffjan S, Abdelraouf ER, Meguid NA, Abboud A, Al Khateeb MA, Fakher M, Hamdan S, Ismael A, Muhammad S, Abdallah E, Sticht H, Wieczorek D, Reis A, Abou Jamra R (2017) Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders. JAMA Psychiatry 74:293-299
• Skraban CM, Wells CF, Markose P, Cho MT, Nesbitt AI, Au PYB, Begtrup A, Bernat JA, Bird LM, Cao K, de Brouwer APM, Denenberg EH, Douglas G, Gibson KM, Grand K, Goldenberg A, Innes AM, Juusola J, Kempers M, Kinning E, Markie DM, Owens MM, Payne K, Person R, Pfundt R, Stocco A, Turner CLS, Verbeek NE, Walsh LE, Warner TC, Wheeler PG, Wieczorek D, Wilkens AB, Zonneveld-Huijssoon E; Deciphering Developmental Disorders Study, Kleefstra T, Robertson SP, Santani A, van Gassen KLI, Deardorff MA (2017) WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features. Am J Hum Genet. 2017 Jul 6;101(1):139-148. doi: 10.1016/j.ajhg.2017.06.002.
• Strupp C, Nachtkamp K, Hildebrandt B, Giagounidis A, Haas R, Gattermann N, Bennett JM, Aul C, Germing U (2017) New proposals of the WHO working group (2016) for the diagnosis of myelodysplastic syndromes (MDS): Characteristics of refined MDS types. Leuk Res. 2017 Jun;57:78-84. doi: 10.1016/j.leukres.2017.02.008. Epub 2017 Feb 27
• Wade EM, Jenkins ZA, Daniel PB, Morgan T, Addor MC, Adés LC, Bertola D, Bohring A, Carter E, Cho TJ, de Geus CM, Duba HC, Fletcher E, Hadzsiev K, Hennekam RCM, Kim CA, Krakow D, Morava E, Neuhann T, Sillence D, Superti-Furga A, Veenstra-Knol HE, Wieczorek D, Wilson LC, Markie DM, Robertson SP. (2017) Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype. Am J Med Genet A. 2017 May 12. doi: 10.1002/ajmg.a.38267. [Epub ahead of print]

2016

• Ansari M, Rainger J, Hanson IM, Williamson KA, Sharkey F, Harewood L, Sandilands A, Clayton-Smith J, Dollfus H, Bitoun P, Meire F, Fantes J, Franco B, Lorenz B, Taylor DS, Stewart F, Willoughby CE, McEntagart M, Khaw PT, Clericuzio C, Van Maldergem L, Williams D, Newbury-Ecob R, Traboulsi EI, Silva ED, Madlom MM, Goudie DR, Fleck BW, Wieczorek D, Kohlhase J, McTrusty AD, Gardiner C, Yale C, Moore AT, Russell-Eggitt I, Islam L, Lees M, Beales PL, Tuft SJ, Solano JB, Splitt M, Hertz JM, Prescott TE, Shears DJ, Nischal KK, Doco-Fenzy M, Prieur F, Temple IK, Lachlan KL, Damante G, Morrison DA, van Heyningen V, FitzPatrick DR (2016) Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome. PLoS One. 2016 Apr 28;11(4):e0153757. doi: 10.1371/journal.pone.0153757. eCollection 2016
• Bögershausen N, Altunoglu U, Beleggia F, Yigit G, Kayserili H, Nürnberg P, Li Y, Altmüller J, Wollnik B (2016) An unusual presentation of Kabuki syndrome with orbital cysts, microphthalmia, and cholestasis with bile duct paucity. Am J Med Genet A. 2016 Dec;170(12):3282-3288. doi: 10.1002/ajmg.a.37931. Epub 2016 Aug 17
• Bögershausen, N., Gatinois, V., Riehmer, V., Kayserili, H., Becker, J., Thoenes, M., Simsek-Kiper, P. Ö., Barat-Houari, M., Elcioglu, N. H., Wieczorek, D., Tinschert, S., Sarrabay, G., Strom, T. M., Fabre, A., Baynam, G., Sanchez, E., Nürnberg, G., Altunoglu, U., Capri, Y., Isidor, B., Lacombe, D., Corsini, C., Cormier-Daire, V., Sanlaville, D., Giuliano, F., Le Quan Sang, K.-H., Kayirangwa, H., Nürnberg, P., Meitinger, T., Boduroglu, K., Zoll, B., Lyonnet, S., Tzschach, A., Verloes, A., Di Donato, N., Touitou, I., Netzer, C., Li, Y., Geneviève, D., Yigit, G. and Wollnik, B. (2016) Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2. Human Mutation, 37: 847-864 [Epub ahead of print]
• Brandt A, Löhers K, Beier M, Leube B, de Torres C, Mora J, Arora P, Jat PS, Royer-Pokora B (2016) Establishment of a Conditionally Immortalized Wilms Tumor Cell Line with a Homozygous WT1 Deletion within a Heterozygous 11p13 Deletion and UPD Limited to 11p15. Brown KW, ed. PLoS ONE. 2016;11(5):e0155561. doi:10.1371/journal.pone.0155561
• Claßen-von Spee S, Mallo M, Beier M, de Leve S, Arenillas L, Pedro C, Solé F, Royer-Pokora B (2016) Bioinformatic evaluation and comparison of parallel aSNP and aCGH analyses of myelodysplastic syndromes patients with normal karyotype. Clin Oncol. 2016; 1:1118
• Grothaus K, Kanber D, Gellhaus A, Mikat B, Kolarova J, Siebert R, Wieczorek D, Horsthemke B (2016) Genome-wide methylation analysis of retrocopy-associated CpG islands and their genomic environment. Epigenetics 11:216-26
• Hackmann K, Rump A, Haas SA, Lemke JR, Fryns JP, Tzschach A, Wieczorek D, Albrecht B, Kuechler A, Ripperger T, Kobelt A, Oexle K, Tinschert S, Schrock E, Kalscheuer VM, Di Donato N (2016) Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities? Am J Med Genet A 170A:94-102
• Kast K, Rhiem K, Wappenschmidt B, Hahnen E, Hauke J, Bluemcke B, Zarghooni V, Herold N, Ditsch N, Kiechle M, Braun M, Fischer C, Dikow N, Schott S, Rahner N, Niederacher D, Fehm T, Gehrig A, Mueller-Reible C, Arnold N, Maass N, Borck G, de Gregorio N, Scholz C, Auber B, Varon-Manteeva R, Speiser D, Horvath J, Lichey N, Wimberger P, Stark S, Faust U, Weber BH, Emons G, Zachariae S, Meindl A, Schmutzler RK, Engel C; German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC) (2016) Prevalence of BRCA1/2 germline mutations in 21 401 families with breast and ovarian cancer. J Med Genet. 2016 Feb 29. pii: jmedgenet-2015-103672. doi: 10.1136/jmedgenet-2015-103672 [Epub ahead of print]
• Kim J-H, Deepali N. Shinde DN, Reijnders MRF, Hauser NS, Belmonte RL, Wilson GR, Bosch DGM, Bubulya PA, Shashi V, Petrovski S, Stone JK, Park EY, Veltman JA, Sinnema M, Stumpel CTRM, Draaisma JM, Nicolai J, University of Washington Center for Mendelian Genomics, Yntema GH, Lindstrom K, de Vries BBA, Jewett T, Santoro SL, Vogt J, Deciphering Developmental Disorders Study, Bachman KK, Seeley AH, Krokosky A, Turner C, Rohena L, Hempel M, Kortüm F, Lessel D, Neu A, Strom TM, Wieczorek D, Bramswig N, Laccone FA, Behunova J, Rehder H, Gordon CT, Rio M, Romana S, Tang S, El-Khechen D, Cho MT, McWalter K, Douglas G, Baskin B, Begtrup A, Funari T, Schoch K, Stegmann APA, Stevens SJC, Zhang D-E, Traver D, Yao X, MacArthur DG, Brunner HG, Mancini GM, Myers RM, Owen LB, Lim S-T, Stachura DL, Vissers LELM, Ahn E-Y E (2016) De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome. AJHG 99:711-719
• Lehnhardt A, Karnatz C, Ahlenstiel-Grunow T, Benz K, Benz MR, Budde K, Büscher AK, Fehr T, Feldkötter M, Graf N, Höcker B, Jungraithmayr T, Klaus G, Köhler B, Konrad M, Kranz B, Montoya CR, Müller D, Neuhaus TJ, Oh J, Pape L, Pohl M, Royer-Pokora B, Querfeld U, Schneppenheim R, Staude H, Spartà G, Timmermann K, Wilkening F, Wygoda S, Bergmann C, Kemper MJ (2016) Clinical and Molecular Characterization of Patients with Heterozygous Mutations in Wilms Tumor Suppressor Gene 1. Clinical Journal of the American Society of Nephrology : CJASN 10:825-831
• Lorenz S, Barøy T, Sun J, Nome T, Vodák D, Bryne JC, Håkelien AM, Fernandez-Cuesta L, Möhlendick B, Rieder H, Szuhai K, Zaikova O, Ahlquist TC, Thomassen GO, Skotheim RI, Lothe RA, Tarpey PS, Campbell P, Flanagan A, Myklebost O, Meza-Zepeda LA (2016) Unscrambling the genomic chaos of osteosarcoma reveals extensive transcript fusion, recurrent rearrangements and frequent novel TP53 aberrations. Oncotarget 7:5273-88
• Lüdecke HJ, Wieczorek D. Burn-McKeown Syndrome. 2016 Jul 14. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: www.ncbi.nlm.nih.gov/books/NBK373577/
• Mikat B, Roll C, Schindler D, Gembruch U, Klempert I, Buiting K, Bramswig NC, Wieczorek D (2016) X-linked recessive VACTERL-H due to a mutation in FANCB in a preterm boy. Clin Dysmorphol 25:73-76
• Nachtkamp K, Stark R, Strupp C, Kündgen A, Giagounidis A, Aul C, Hildebrandt B, Haas R, Gattermann N, Germing U (2016) Causes of death in 2877 patients with myelodysplastic syndromes. Ann Hematol 95:937-944 [Epub ahead of print]
• Parenti I, Gervasini C, Pozojevic J, Wendt KS, Watrin E, Azzollini J, Braunholz D, Buiting K, Cereda A, Engels H, Garavelli L, Glazar R, Graffmann B, Larizza L, Lüdecke HJ, Mariani M, Masciadri M, Pié J, Ramos FJ, Russo S, Selicorni A, Stefanova M, Strom TM, Werner R, Wierzba J, Zampino G, Gillessen-Kaesbach G, Wieczorek D, Kaiser FJ (2016) Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk prediction. Clin Genet 89:564-73 [Epub ahead of print]
• Rahner N, Nuernberg G, Finis D, Nuernberg P, Royer-Pokora B (2016) A novel C8orf37 splice mutation and genotype-phenotype correlation for cone-rod dystrophy. Published online: 11 Feb 2016 DOI:10.3109/13816810.2015.1071408
• Roßner F, Gieseler C, Morkel M, Royer HD, Rivera M, Bläker H, Dietel M, Schäfer R, Sers C (2016) Uncoupling of EGFR-RAS signaling and nuclear localization of YBX1 in colorectal cancer. Oncogenesis. 2016 Jan 18;5:e187. doi: 10.1038/oncsis.2015.51
• Rudnik-Schöneborn S, Tölle D, Senderek J, Eggermann K, Elbracht M, Kornak U, von der Hagen M, Kirschner J, Leube B, Müller-Felber W, Schara U, von Au K, Wieczorek D, Bußmann C, Zerres K (2016) Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients. Clin Genet 89: 34-43
• Rudnik-Schöneborn S, Deden F, Eggermann K, Eggermann T, Wieczorek D, Sellhaus B, Yamoah A, Goswami A, Claeys KG, Weis J, Zerres K (2016) Autosomal dominant spinal muscular atrophy with lower extremity predominance: A recognizable phenotype of BICD2 mutations. Muscle Nerve. 2016 Mar 21. doi: 10.1002/mus.25114. [Epub ahead of print]
• Schrier-Vergano S, Santen G, Wieczorek D, Wollnik B, Matsumoto N, Deardorff MA. Coffin-Siris Syndrome. Update 2016 May 12. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: Available from: www.ncbi.nlm.nih.gov/books/NBK131811/
• Schäfgen J, Cremer K, Becker J, Wieland T, Zink AM, Kim S, Windheuser IC, Kreiß M, Aretz S, Strom TM, Wieczorek D, Engels H (2016) De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth. Eur J Hum Genet 24:1739-1745
• Srivastava S, Engels H, Schanze I, Cremer K, Wieland T, Menzel M, Schubach M, Biskup S, Kreiß M, Endele S, Strom TM, Wieczorek D, Zenker M, Gupta S, Cohen J, Zink AM, Naidu S (2016) Loss-of-function variants in HIVEP2 are a cause of intellectual disability. Eur J Hum Genet 24:556-61
• Suerink M, van der Klift HM, Ten Broeke SW, Dekkers OM, Bernstein I, Capellá Munar G, Gomez Garcia E, Hoogerbrugge N, Letteboer TG, Menko FH, Lindblom A, Mensenkamp A, Moller P, van Os TA, Rahner N, Redeker BJ, Olderode M, Spruijt L, Vos YJ, Wagner A, Morreau H, Hes FJ, Vasen HF, Tops CM, Wijnen JT, Nielsen M (2016) The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers. Genet Med 18:405-409
• Teresa-Rodrigo ME, Eckhold J, Puisac B, Pozojevic J, Parenti I, Baquero-Montoya C, Gil-Rodríguez MC, Braunholz D, Dalski A, Hernández-Marcos M, Ayerza A, Bernal ML, Ramos FJ, Wieczorek D, Gillessen-Kaesbach G, Pié J, Kaiser FJ (2016) Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange Syndrome. BioMed Research International Volume 2016, Article ID 8742939, 8 pages dx.doi.org/10.1155/2016/8742939
• van der Werf IM, Buiting K, Czeschik C, Reyniers E, Vandeweyer G, Vanhaesebrouck P, Lüdecke HJ, Wieczorek D, Horsthemke B, Mortier G, Leroy JG, Kooy RF (2016) Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndrome. European Journal of Human Genetics, (13 July 2016) doi:10.1038/ejhg.2016.82 [Epub ahead of print]
• Wade EM, Daniel PB, Jenkins ZA, McInerney-Leo A, Leo P, Morgan T, Addor MC, Adès LC, Bertola D, Bohring A, Carter E, Cho T-J, Duba H-C, Fletcher E, Kim CA, Krakow D, Morava E, Neuhann T, Superti-Furga A, Veenstra-Knol I, Wieczorek D, Wilson LC, Hennekam RCM, Sutherland-Smith A-J, Strom TM, Wilkie AOW, Brown MA, Duncan EL, Markie DM, Robertson SP (2016) Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia. Am J Hum Genet 99:392-406
• Wieczorek D, Fitzpatrick DR. Miller Syndrome. In: Erickson RP and Wynshaw-Boris AJ, editors. Oxford Medicine Online [Internet] 2016 Aug 19. doi:10.1093/med/9780199934522.003.0176
• Wolf C, Rapp A, Berndt N, Staroske W, Schuster M, Dobrick-Mattheuer M, Kretschmer S, König N, Kurth T, Wieczorek D, Kast K, Cardoso MC, Günther C, Lee-Kirsch MA (2016) RPA and Rad51 constitute a cell intrinsic mechanism to protect the cytosol from self DNA. Nat Commun 7:11752
• Yigit G, Wieczorek D, Bögershausen N, Beleggia F, Möller-Hartmann C, Altmüller J, Thiele H, Nürnberg P, Wollnik B (2016) A syndrome of microcephaly, short stature, polysyndactyly, and dental anomalies caused by a homozygous KATNB1 mutation. Am J Med Genet A 170:728-33
• Zak J, Vives V, Szumska D, Vernet A, Schneider JE, Miller P, Slee EA, Joss S, Lacassie Y, Chen E, Escobar LF, Tucker M, Aylsworth AS, Dubbs HA, Collins AT, Andrieux J, Dieux-Coeslier A, Haberlandt E, Kotzot D, Scott DA, Parker MJ, Zakaria Z, Choy YS, Wieczorek D, Innes AM, Jun KR, Zinner S, Prin F, Lygate CA, Pretorius P, Rosenfeld JA, Mohun TJ and Lu X (2016) ASPP2 deficiency causes features of 1q41q42 microdeletion syndrome Cell Death & Differentiation (22 July 2016) doi:10.1038/cdd.2016.76

2015

• Kalfalah F, Seggewiß S, Walter R, Tigges J, Moreno-Villanueva M, Bürkle A, Ohse S, Busch H, Boerries M, Hildebrandt B, Royer-Pokora B, Boege F (2015) Structural chromosome abnormalities, increased DNA strand breaks and DNA strand break repair deficiency in dermal fibroblasts from old female human donors. Aging (Albany NY) 7:110-122
• Braulke F, Platzbecker U, Müller-Thomas C, Götze K, Germing U, Brümmendorf TH, Nolte F, Hofmann WK, Giagounidis AA, Lübbert M, Greenberg PL, Bennett JM, Solé F, Mallo M, Slovak ML, Ohyashiki K, Le Beau MM, Tüchler H, Pfeilstöcker M, Nösslinger T, Hildebrandt B, Shirneshan K, Aul C, Stauder R, Sperr WR, Valent P, Fonatsch C, Trümper L, Haase D, Schanz J (2015) Validation of cytogenetic risk groups according to International Prognostic Scoring Systems by peripheral blood CD34+FISH: results from a German diagnostic study in comparison with an international control group. Haematologica 100:205-213
• Braulke F, Müller-Thomas C, Götze K, Platzbecker U, Germing U, Hofmann WK, Giagounidis AA, Lübbert M, Greenberg PL, Bennett JM, Solé F, Slovak ML, Ohyashiki K, Le Beau MM, Tüchler H, Pfeilstöcker M, Hildebrandt B, Aul C, Stauder R, Valent P, Fonatsch C, Bacher U, Trümper L, Haase D, Schanz J (2015) Frequency of del(12p) is commonly underestimated in myelodysplastic syndromes: Results from a German diagnostic study in comparison with an international control group. Genes Chromosomes Cancer 54:809-817
• Braunholz D, Obieglo C, Parenti I, Pozojevic J, Eckhold J, Reiz B, Braenne I, Wendt KS, Watrin E, Vodopiutz J, Rieder H, Gillessen-Kaesbach G, Kaiser FJ (2015) Hidden Mutations in Cornelia de Lange Syndrome Limitations of Sanger Sequencing in Molecular Diagnostics (vol 36, pg 26, 2014) Hum Mutat 36:279-280
• Braunholz D, Obieglo C, Parenti I, Pozojevic J, Eckhold J, Reiz B, Braenne I, Wendt KS, Watrin E, Vodopiutz J, Rieder H, Gillessen-Kaesbach G, Kaiser FJ (2015) Hidden mutations in Cornelia de Lange syndrome limitations of Sanger sequencing in molecular diagnostics. Hum Mutat 36:26-29
• ten Broeke SW, Brohet RM, Tops CM, van der Klift HM, Velthuizen ME, Bernstein I, Capellá Munar G, Gomez Garcia E, Hoogerbrugge N, Letteboer TG, Menko FH, Lindblom A, Mensenkamp AR, Moller P, van Os TA, Rahner N, Redeker BJ, Sijmons RH, Spruijt L, Suerink M, Vos YJ, Wagner A, Hes FJ, Vasen HF, Nielsen M, Wijnen JT (2015) Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk. J Clin Oncol 33:319-325
• Hufeland M, Rahner N, Krauspe R (2015) Trichorhinophalangeal Syndrome Type I: A Novel Mutation and Perthes-like Changes of the Hip in a Family With 4 Cases Over 3 Generations. J Pediatr Orthop 35:e1-5
• Dufke C, Hauser AK, Sturm M, Fluhr S, Wächter T, Leube B, Auburger G, Ott T, Bauer P, Gasser T, Grundmann K (2015) Mutations in CIZ1 are not a major cause for dystonia in Germany. Mov Disord 30:740-743
• Pfankuchen DB, Stölting DP, Schlesinger M, Royer HD, Bendas G (2015) Low molecular weight heparin tinzaparin antagonizes cisplatin resistance of ovarian cancer cells. Biochem Pharmacol 97:147-157
• Schneider R, Schneider C, Büttner R, Reinacher-Schick A, Tannapfel A, Fürst A, Rüschoff J, Jakobeit C, Royer-Pokora B, Möslein G (2015) Kolorektales Karzinom bei V. a. Lynch-Syndrom: ein interdisziplinärer Algorithmus. Zentralbl Chir 40:591-599
• Wieczorek D (2015) New syndromic conditions with microcephaly. Medizinische Genetik 27:369-376

2014

• Stölting DP, Borrmann M, Koch M, Wiese M, Royer HD, Bendas G (2015) How liposomal Cisplatin overcomes chemoresistance in ovarian tumour cells. Anticancer Res 34:525-530
• Glaser J, Neumann MH, Mei Q, Betz B, Seier N, Beyer I, Fehm T, Neubauer H, Niederacher D, Fleisch MC (2014) Macrophage Capping Protein CapG Is a Putative Oncogene Involved in Migration and Invasiveness in Ovarian Carcinoma. Biomed Res Int 2014:379847
• Hoelzer D, Walewski J, Döhner H, Viardot A, Hiddemann W, Spiekermann K, Serve H, Dührsen U, Hüttmann A, Thiel E, Dengler J, Kneba M, Schaich M, Schmidt-Wolf IG, Beck J, Hertenstein B, Reichle A, Domanska-Czyz K, Fietkau R, Horst HA, Rieder H, Schwartz S, Burmeister T, Gökbuget N, German Multicenter Study Group for Adult Acute Lymphoblastic Leukemia (2014) Improved outcome of adult Burkitt lymphoma/leukemia with rituximab and chemotherapy: report of a large prospective multicenter trial. Blood 124:3870-3879
• Weilandt M, Koch A, Rieder H, Deenen R, Schwender H, Niegisch G, Schulz WA (2014) Target genes of recurrent chromosomal amplification and deletion in urothelial carcinoma. Cancer Genomics Proteomics 11:141-153
• Yang R, Chen B, Pfütze K, Buch S, Steinke V, Holinski-Feder E, Stöcker S, von Schönfels W, Becker T, Schackert HK, Royer-Pokora B, Kloor M, Schmiegel WH, Büttner R, Engel C, Lascorz Puertolas J, Försti A, Kunkel N, Bugert P, Schreiber S, Krawczak M, Schafmayer C, Propping P, Hampe J, Hemminki K, Burwinkel B (2014) Genome-wide analysis associates familial colorectal cancer with increases in copy number variations and a rare structural variation at 12p12.3. Carcinogenesis 35:315-323
• Zipperer E, Tanha N, Strupp C, Kündgen A, Nachtkamp K, Neukirchen J, Hildebrandt B, Haas R, Gattermann N, Germing U (2014) The myelodysplastic syndrome-comorbidity index provides additional prognostic information on patients stratified according to the revised international prognostic scoring system. Haematologica 99:e31-e32
• Basel-Vanagaite L, Yilmaz R, Tang S, Reuter MS, Rahner N, Grange DK, Mortenson M, Koty P, Feenstra H, Farwell Gonzalez KD, Sticht H, Boddaert N, Désir J, Anyane-Yeboa K, Zweier C, Reis A, Kubisch C, Jewett T, Zeng W, Borck G (2014) Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations. Hum Genet 133:939-949
• Busch M, Schwindt H, Brandt A, Beier M, Görldt N, Romaniuk P, Toska E, Roberts S, Royer HD, Royer-Pokora B (2014) Classification of a frameshift/extended and a stop mutation in WT1 as gain-of-function mutations that activate cell cycle genes and promote Wilms tumour cell proliferation. Hum Mol Genet 23:3958-3974
• Binder V, Bartenhagen C, Okpanyi V, Gombert M, Moehlendick B, Behrens B, Klein HU, Rieder H, Ida Krell PF, Dugas M, Stoecklein NH, Borkhardt A (2014) A new workflow for whole-genome sequencing of single human cells. Hum Mutat 35:1260-1270
• Mesher D, Dove-Edwin I, Sasieni P, Vasen H, Bernstein I, Royer-Pokora B, Holinski-Feder E, Lalloo F, Evans DG, Forsberg A, Lindblom A, Thomas H (2014) A pooled analysis of the outcome of prospective colonoscopic surveillance for familial colorectal cancer. Int J Cancer 134:939-947
• Steinke V, Holzapfel S, Loeffler M, Holinski-Feder E, Morak M, Schackert HK, Görgens H, Pox C, Royer-Pokora B, von Knebel-Doeberitz M, Büttner R, Propping P, Engel C, German HNPCC Consortium (2014) Evaluating the performance of clinical criteria for predicting mismatch repair gene mutations in Lynch syndrome: A comprehensive analysis of 3,671 families. Int J Cancer 135:69-77
• Neukirchen J, Lauseker M, Blum S, Giagounidis A, Lübbert M, Martino S, Siragusa S, Schlenk RF, Platzbecker U, Hofmann WK, Götze K, Palumbo GA, Magrin S, Kündgen A, Aul C, Hildebrandt B, Hasford J, Kobbe G, Haas R, Germing U (2014) Validation of the revised International Prognostic Scoring System (IPSS-R) in patients with myelodysplastic syndrome: A multicenter study. Leuk Res 38:57-64
• Schuler E, Schroeder M, Neukirchen J, Strupp C, Xicoy B, Kündgen A, Hildebrandt B, Haas R, Gattermann N, Germing U (2014) Refined medullary blast and white blood cell count based classification of chronic myelomonocytic leukemias. Leuk Res 38:1413-1419
• Thompson BA, Spurdle AB, Plazzer JP, Greenblatt MS, Akagi K, Al-Mulla F, Bapat B, Bernstein I, Capellá G, den Dunnen JT, du Sart D, Fabre A, Farrell MP, Farrington SM, Frayling IM, Frebourg T, Goldgar DE, Heinen CD, Holinski-Feder E, Kohonen-Corish M, Robinson KL, Leung SY, Martins A, Moller P, Morak M, Nystrom M, Peltomaki P, Pineda M, Qi M, Ramesar R, Rasmussen LJ, Royer-Pokora B, Scott RJ, Sijmons R, Tavtigian SV, Tops CM, Weber T, Wijnen J, Woods MO, Macrae F, Genuardi M, InSiGHT , Thompson BA, Spurdle AB, Plazzer JP, Greenblatt MS, Akagi K, Al-Mulla F, Bapat B, Bernstein I, Capellá G, den Dunnen JT, du Sart D, Fabre A, Farrell MP, Farrington SM, Frayling IM, Frebourg T, Goldgar DE, Heinen CD, Holinski-Feder E, Kohonen-Corish M, Robinson KL, Leung SY, Martins A, Moller P, Morak M, Nystrom M, Peltomaki P, Pineda M, Qi M, Ramesar R, Rasmussen LJ, Royer-Pokora B, Scott RJ, Sijmons R, Tavtigian SV, Tops CM, Weber T, Wijnen J, Woods MO, Macrae F, Genuardi M, Castillejo A, Sexton A, Chan AK, Viel A, Blanco A, French A, Laner A, Wagner A, van den Ouweland A, Mensenkamp A, Payá A, Betz B, Redeker B, Smith B, Espenschied C, Cummings C, Engel C, Fornes C, Valenzuela C, Alenda C, Buchanan D, Barana D, Konstantinova D, Cairns D, Glaser E, Silva F, Lalloo F, Crucianelli F, Hogervorst F, Casey G, Tomlinson I, Blanco I, Villar IL, Garcia-Planells J, Bigler J, Shia J, Martinez-Lopez J, Gille JJ, Hopper J, Potter J, Soto JL, Kantelinen J, Ellis K, Mann K, Varesco L, Zhang L, Le Marchand L, Marafie MJ, Nordling M, Tibiletti MG, Kahan MA, Ligtenberg M, Clendenning M, Jenkins M, Speevak M, Digweed M, Kloor M, Hitchins M, Myers M, Aronson M, Valentin MD, Kutsche M, Parsons M, Walsh M, Kansikas M, Zahary MN, Pedroni M, Heider N, Poplawski N, Rahner N, Lindor NM, Sala P, Nan P, Propping P, Newcomb P, Sarin R, Haile R, Hofstra R, Ward R, Tricarico R, Bacares R, Young S, Chialina S, Kovalenko S, Gunawardena SR, Moreno S, Ho SL, Yuen ST, Thibodeau SN, Gallinger S, Burnett T, Teitsch T, Chan TL, Smyrk T, Cranston T, Psofaki V, Steinke-Lange V, Barbera VM (2014) Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. Nat Genet 46:107-115
• Kummer S, Venghaus A, Schlune A, Leube B, Eggermann T, Spiekerkoetter U (2014) Synergistic mutations in SLC3A1 and SLC7A9 leading to heterogeneous cystinuria phenotypes: pitfalls in the diagnostic workup. Pediatr Nephrol 29:155-159

2013

• Busch M, Leube B, Thiel A, Schanze I, Beier M, Royer-Pokora B (2013) Evaluation of chromosome 11p imbalances in aniridia and Wilms tumor patients. Am J Med Genet A 161A(5): 958-964
• Classen S, Goecke T, Drechsler M, Betz B, Nickel N, Beier M, Schaper J, Karenfort M, Royer-Pokora B (2013) A Novel Inverted 17p13.3 Microduplication Disrupting PAFAH1B1 (LIS1) in a Girl With Syndromic Lissencephaly. Am J Med Genet A 161A(6):453-1458
• Czeschik JC, Voigt C, Goecke TO, Ludecke HJ, Wagner N, Kuechler A, Wieczorek D (2013) Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9. Am J Med Genet A 161A(2):295-300
• Koch M, Krieger ML, Stölting D, Brenner N, Beier M, Jaehde U, Wiese M, Royer HD, Bendas G (2013) Overcoming chemotherapy resistance of ovarian cancer cells by liposomal cisplatin: molecular mechanisms unveiled by gene expression profiling. Biochem Pharmacol 85:1077-1090
• Such E, Germing U, Malcovati L, Cervera J, Kuendgen A, Della Porta MG, Nomdedeu B, Arenillas L, Luño E, Xicoy B, Amigo ML, Valcarcel D, Nachtkamp K, Ambaglio I, Hildebrandt B, Lorenzo I, Cazzola M, Sanz G (2013) Development and validation of a prognostic scoring system for patients with chronic myelomonocytic leukemia. Blood 121:3005-3015
• Rahner N, Steinke V, Schlegelberger B, Eisinger F, Hutter P, Olschwang S (2013) Clinical utility gene card for: Lynch syndrome (MLH1, MSH2, MSH6, PMS2, EPCAM) - update 2012. Eur J Hum Genet 21, doi:10.1038/ejhg.2012.164; published online 15 August 2012
• Vasen HF, Blanco I, Aktan-Collan K, Gopie JP, Alonso A, Aretz S, Bernstein I, Bertario L, Burn J, Capella G, Colas C, Engel C, Frayling IM, Genuardi M, Heinimann K, Hes FJ, Hodgson SV, Karagiannis JA, Lalloo F, Lindblom A, Mecklin JP, Møller P, Myrhoj T, Nagengast FM, Parc Y, Ponz de Leon M, Renkonen-Sinisalo L, Sampson JR, Stormorken A, Sijmons RH, Tejpar S, Thomas HJ, Rahner N, Wijnen JT, Järvinen HJ, Möslein G, Mallorca group (2013) Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts. Gut 62:812-823
• Bramann EL, Willenberg HS, Hildebrandt B, Müller-Mattheis V, Schott M, Scherbaum WA, Haase M  (2013) Griseofulvin inhibits the growth of adrenocortical cancer cells in vitro. Horm Metab Res 45:297-300
• Wieczorek D, Bögershausen N, Beleggia F, Steiner-Haldenstätt S, Pohl E, Li Y, Milz E, Martin M, Thiele H, Altmüller J, Alanay Y, Kayserili H, Klein-Hitpass L, Böhringer S, Wollstein A, Albrecht B, Boduroglu K, Caliebe A, Chrzanowska K, Cogulu O, Cristofoli F, Czeschik JC, Devriendt K, Dotti MT, Elcioglu N, Gener B, Goecke TO, Krajewska-Walasek M, Guillén-Navarro E, Hayek J, Houge G, Kilic E, Simsek-Kiper PÖ, López-González V, Kuechler A, Lyonnet S, Mari F, Marozza A, Mathieu Dramard M, Mikat B, Morin G, Morice-Picard F, Ozkinay F, Rauch A, Renieri A, Tinschert S, Utine GE, Vilain C, Vivarelli R, Zweier C, Nürnberg P, Rahmann S, Vermeesch J, Lüdecke HJ, Zeschnigk M, Wollnik B  (2013) A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. Hum Mol Genet 22:5121-535
• Rasmussen LJ, Heinen CD, Royer-Pokora B, Drost M, Tavtigian S, Hofstra RM, de Wind N (2013) Response to: Design of a core classification process for DNA mismatch repair variations of a priori unknown functional significance. Hum Mutat 34:923-924
• Fischer C, Kuchenbäcker K, Engel C, Zachariae S, Rhiem K, Meindl A, Rahner N, Dikow N, Plendl H, Debatin I, Grimm T, Gadzicki D, Flöttmann R, Horvath J, Schröck E, Stock F, Schäfer D, Schwaab I, Kartsonaki C, Mavaddat N, Schlegelberger B, Antoniou AC, Schmutzler R, German Consortium for Hereditary Breast and Ovarian Cancer (2013) Evaluating the performance of the breast cancer genetic risk models BOADICEA, IBIS, BRCAPRO and Claus for predicting BRCA1/2 mutation carrier probabilities: a study based on 7352 families from the German Hereditary Breast and Ovarian Cancer Consortium. J Med Genet 50:360-367
• Koldehoff M, Cierna B, Steckel NK, Beelen DW, Elmaagacli AH (2013) Maternal molecular features and gene profiling of monocytes during first trimester pregnancy. J Reprod Immunol 99: 62-68
• Maassen A, Strupp C, Giagounidis A, Kuendgen A, Nachtkamp K, Hildebrandt B, Gattermann N, Aul C, Haas R, Germing U (2013) Validation and proposals for a refinement of the WHO 2008 classification of myelodysplastic syndromes without excess of blasts. Leuk Res 37:64-70
• Schanz J, Tüchler H, Solé F, Mallo M, Luño E, Cervera J, Grau J, Hildebrandt B, Slovak ML, Ohyashiki K, Steidl C, Fonatsch C, Pfeilstöcker M, Nösslinger T, Valent P, Giagounidis A, Aul C, Lübbert M, Stauder R, Krieger O, Le Beau MM, Bennett JM, Greenberg P, Germing U, Haase D (2013) Monosomal karyotype in MDS: explaining the poor prognosis? Leukemia 27:1988-1995
• Royer-Pokora B (2013) Genetics of pediatric renal tumors. Pediatr Nephrol 28:13-23
• Pox C, Aretz S, Bischoff SC, Graeven U, Hass M, Heußner P, Hohenberger W, Holstege A, Hübner J, Kolligs F, Kreis M, Lux P, Ockenga J, Porschen R, Post S, Rahner N, Reinacher-Schick A, Riemann JF, Sauer R, Sieg A, Scheppach W, Schmitt W, Schmoll HJ, Schulmann K, Tannapfel A, Schmiegel W (2013) S3-guideline colorectal cancer version 1.0. Z Gastroenterol 51:753-854

2012

• Serra A, Eirich K, Winkler AK, Mrasek K, Göhring G, Barbi G, Cario H, Schlegelberger B, Royer-Pokora B, Liehr T, Leriche C, Henne-Bruns D, Barth TF, Schindler D. Shared Copy Number Variation in Simultaneous Nephroblastoma and Neuroblastoma due to Fanconi Anemia. Mol Syndromol. 2012 Sep;3(3):120-130. Epub 2012 Aug 23.
• Engels H, Schüler HM, Zink AM, Wohlleber E, Brockschmidt A, Hoischen A, Drechsler M, Lee JA, Ludwig KU, Kubisch C, Schwanitz G, Weber RG, Leube B, Hennekam RC, Rudnik-Schöneborn S, Kreiss-Nachtsheim M, Reutter H (2012) A phenotype map for 14q32.3 terminal deletions. Am J Med Genet A 158A:695-706 Xiao J, Uitti RJ, Zhao Y, Vemula SR, Perlmutter JS, Wszolek ZK, Maraganore DM, Auburger G, Leube B, Lehnhoff K, LeDoux MS (2012) Mutations in CIZ1 cause adult onset primary cervical dystonia. Ann Neurol 71:458-69
• Gökbuget N, Kneba M, Raff T, Trautmann H, Bartram CR, Arnold R, Fietkau R, Freund M, Ganser A, Ludwig WD, Maschmeyer G, Rieder H, Schwartz S, Serve H, Thiel E, Brüggemann M, Hoelzer D, German Multicenter Study Group for Adult Acute Lymphoblastic Leukemia (2012) Adult patients with acute lymphoblastic leukemia and molecular failure display a poor prognosis and are candidates for stem cell transplantation and targeted therapies. Blood 120:1868-76
• Heidemann S, Fischer C, Engel C, Fischer B, Harder L, Schlegelberger B, Niederacher D, Goecke TO, Doelken SC, Dikow N, Jonat W, Morlot S, Schmutzler RC, Arnold NK (2012) Double heterozygosity for mutations in BRCA1 and BRCA2 in German breast cancer patients: implications on test strategies and clinical management. Breast Cancer Res Treat 134:1229-39 Koch A, Hatina J, Rieder H, Seifert HH, Huckenbeck W, Jankowiak F, Florl AR, Stoehr R, Schulz WA (2012) Discovery of TP53 splice variants in two novel papillary urothelial cancer cell lines. Cell Oncol 35:243-257
• Fischer C, Engel C, Sutter C, Zachariae S, Schmutzler R, Meindl A, Heidemann S, Grimm T, Goecke TO, Debatin I, Horn D, Wieacker P, Gadzicki D, Becker K, Schäfer D, Stock F, Voigtländer T, German Consortium for Hereditary Breast and Ovarian Cancer (2012) BRCA1/2 testing: uptake, phenocopies, and strategies to improve detection rates in initially negative families. Clin Genet 82:478-83
• Kroenlein H, Schwartz S, Reinhardt R, Rieder H, Molkentin M, Gökbuget N, Hoelzer D, Thiel E, Burmeister T (2012) Molecular analysis of the t(2;8)/MYC-IGK translocation in high-grade lymphoma/leukemia by long-distance inverse PCR. Genes Chromosomes Cancer 51:290-9
• Türkmen S, Timmermann B, Bartels G, Gröger D, Meyer C, Schwartz S, Haferlach C, Rieder H, Gökbuget N, Hoelzer D, Marschalek R, Burmeister T (2012) Involvement of the MLL gene in adult T-lymphoblastic leukemia. Genes Chromosomes Cancer 51:1114-24
• Rasmussen LJ, Heinen CD, Royer-Pokora B, Drost M, Tavtigian S, Hofstra RM, de Wind N (2012) Pathological assessment of mismatch repair gene variants in Lynch syndrome: past, present, and future. Hum Mutat 33:1617-25
• Fischer T, Sudbrock F, Pomplun E, Kriehuber R, Winkler J, Matzkies M, Dellweg A, Dietlein M, Arnhold S, Royer HD, Schicha H, Hescheler J, Schomäcker K (2012) Cellular response on Auger- and Beta-emitting nuclides: Human embryonic stem cells (hESC) vs. keratinocytes. Int J Radiat Biol 88:961-71
• Engel C, Loeffler M, Steinke V, Rahner N, Holinski-Feder E, Dietmaier W, Schackert HK, Goergens H, von Knebel Doeberitz M, Goecke TO, Schmiegel W, Buettner R, Moeslein G, Letteboer TG, García EG, Hes FJ, Hoogerbrugge N, Menko FH, van Os TA, Sijmons RH, Wagner A, Kluijt I, Propping P, Vasen HF (2012) Risks of less common cancers in proven mutation carriers with lynch syndrome. J Clin Oncol 30:4409-15
• Schanz J, Tüchler H, Solé F, Mallo M, Luño E, Cervera J, Granada I, Hildebrandt B, Slovak ML, Ohyashiki K, Steidl C, Fonatsch C, Pfeilstöcker M, Nösslinger T, Valent P, Giagounidis A, Aul C, Lübbert M, Stauder R, Krieger O, Garcia-Manero G, Faderl S, Pierce S, Le Beau MM, Bennett JM, Greenberg P, Germing U, Haase D (2012) New comprehensive cytogenetic scoring system for primary myelodysplastic syndromes (MDS) and oligoblastic acute myeloid leukemia after MDS derived from an international database merge. J Clin Oncol 30:820-9
• Cherry AM, Slovak ML, Campbell LJ, Chun K, Eclache V, Haase D, Haferlach C, Hildebrandt B, Iqbal AM, Jhanwar SC, Ohyashiki K, Sole F, Vandenberghe P, VanDyke DL, Zhang Y, Dewald GW (2012) Will a peripheral blood (PB) sample yield the same diagnostic and prognostic cytogenetic data as the concomitant bone marrow (BM) in myelodysplasia? Leuk Res 36:832-40
• Germing U, Lauseker M, Hildebrandt B, Symeonidis A, Cermak J, Fenaux P, Kelaidi C, Pfeilstöcker M, Nösslinger T, Sekeres M, Maciejewski J, Haase D, Schanz J, Seymour J, Kenealy M, Weide R, Lübbert M, Platzbecker U, Valent P, Götze K, Stauder R, Blum S, Kreuzer KA, Schlenk R, Ganser A, Hofmann WK, Aul C, Krieger O, Kündgen A, Haas R, Hasford J, Giagounidis A (2012) Survival, prognostic factors and rates of leukemic transformation in 381 untreated patients with MDS and del(5q): a multicenter study. Leukemia 26:1286-92
• Eggers C, Volk AE, Kahraman D, Fink GR, Leube B, Schmidt M, Timmermann L (2012) Are Dopa-responsive dystonia and Parkinson's disease related disorders? A case report. Parkinsonism Relat Disord 18:666-8

2011

• Mallo M, Cervera J, Schanz J, Such E, García-Manero G, Luño E, Steidl C, Espinet B, Vallespí T, Germing U, Blum S, Ohyashiki K, Grau J, Pfeilstöcker M, Hernández JM, Noesslinger T, Giagounidis A, Aul C, Calasanz MJ, Martín ML, Valent P, Collado R, Haferlach C, Fonatsch C, Lübbert M, Stauder R, Hildebrandt B, Krieger O, Pedro C, Arenillas L, Sanz MA, Valencia A, Florensa L, Sanz GF, Haase D, Solé F.Impact of adjunct cytogenetic abnormalities for prognostic stratification in patients with myelodysplastic syndrome and deletion 5q.Leukemia (2011) Jan;25(1):110-20. Epub 2010 Sep 30.(IF:8.3)
• Thiel A, Beier M, Ingenhag D, Servan K, Hein M, Betz B, Hildebrandt B, Evers C,  Germing G, Royer-Pokora B.Comprehensive array CGH of normal karyotype Myelodysplastic syndrome reveals hidden recurrent and several individual genomic copy number change.Leukemia (2011) Jan 28. [Epub ahead of print](IF:8.3)
• Kuiper RP, Vissers LE, Venkatachalam R, Bodmer D, Hoenselaar E, Goossens M, Haufe A, Kamping E, Niessen RC, Hogervorst FB, Gille JJ, Redeker B, Tops CM, van Gijn ME, van den Ouweland AM, Rahner N, Steinke V, Kahl P, Holinski-Feder E, Morak M, Kloor M, Stemmler S, Betz B, Hutter P, Bunyan DJ, Syngal S, Culver JO, Graham T, Chan TL, Nagtegaal ID, van Krieken JH, Schackert HK, Hoogerbrugge N, van Kessel AG, Ligtenberg MJ.Recurrence and variability of germline EPCAM deletions in Lynch syndrome.Hum Mutation (2011) Jan 18. doi: 10.1002/humu.21446. [Epub ahead of print](IF:6.887)
• Hartmann CJ, Leube B, Wojtecki L, Betz B, Groiss SJ, Bauer P, Schnitzler A, Südmeyer M.A novel mutation of the SGCE-gene in a German family with myoclonus-dystonia syndrome.J Neurol.(2011) Jan 26. [Epub ahead of print](IF:2.9)
• Royer-Pokora B und Graf N.Wilms Tumors Arising at Young Age: a Genetic Basis to Distinguish Subgroups for Individualized Therapy.J.Clin Oncol (2011) accepted(IF:17.79)
• Schumacher V, Schloetzer-Schrehardt U, Karumanchi A, ShiX, Zaia J, Jeruschke S, Zhang D, Pavenstaedt H, Drenkhan A, Amann K, Hartwig S, Ng K, Ho J,. Kreidberg J A, Taglienti M, Royer-Pokora B, Ai XWT1 regulation of Sulf expression is crucial to maintaining the glomerular filtration barrier.JASN(2011) accepted(IF:7.689)
• HardtK, Heick S, Betz B, Goecke T, Yazdanparasat H, Servan K, Steinke V, Rahner N, Morak M, Holinski-Feder E, Engel C, Möslein G, Schackert H.-K, Knebel-Döberitz K, Schmiegel P, Propping P and the German HNPCC consortium,  Hegemann JH, Royer-Pokora BMissense variants in hMLH1 identified in Patients from the German HNPCC consortium and functional studies.Familial Cancer (2011) in press(IF:2.2)
• Schanz J, Steidl C, Fonatsch C, Pfeilstöcker M, Nösslinger T, Tuechler H, Valent P, Hildebrandt B, Giagounidis A, Aul C, Lübbert M, Stauder R, Krieger O, Garcia-Manero G, Kantarjian H, Germing U, Haase D, Estey E.Coalesced multicentric analysis of 2351 patients with MDS indicates an underestimation of poor risk cytogenetics in the International Prognostic Scoring System of myelodysplastic syndromes.J Clin Oncol (2011) in press(IF:17.793)
• Feichtinger RG, Neureiter D, Royer-Pokora B, Mayr JA, Zimmermann FA, Jones N, Koegler C, Ratschek M, Sperl W, Kofler B. Heterogeneity of mitochondrial energy metabolism in classical triphasic Wilms' tumor. Front Biosci (Elite Ed). 2011;3:187-93
• Morak M, Koehler U, Schackert HK, Steinke V, Royer-Pokora B, Schulmann K, Kloor M, Höchter W, Weingart J, Keiling C, Massdorf T, Holinski-Feder E; German HNPCC consortium. Biallelic MLH1 SNP cDNA expression or constitutional promoter methylation can hide genomic rearrangements causing Lynch syndrome. J Med Genet. 2011 Aug;48(8):513-9. Epub 2011 Jun 22  
• Amin EM, Oltean S, Hua J, Gammons MV, Hamdollah-Zadeh M, Welsh GI, Cheung MK, Ni L, Kase S, Rennel ES, Symonds KE, Nowak DG, Royer-Pokora B, Saleem MA, Hagiwara M, Schumacher VA, Harper SJ, Hinton DR, Bates DO, Ladomery MR. WT1 mutants reveal SRPK1 to be a downstream angiogenesis target by altering VEGF splicing. Cancer Cell. 2011 Dec 13;20(6):768-80. doi: 10.1016/j.ccr.2011.10.016. 

2010

• Betz B, Theiss S, Aktas M, Konermann C, Goecke TO, Möslein G, Schaal H, Royer-Pokora B.
  Comparative in silico analyses and experimental validation of novel splice site and missense mutations in the genes MLH1 and MSH2.
  J Cancer Res Clin Oncol  (2010) 136:123-134  [Epub 2009;Aug 8]
  (IF:2.261)
• Engel C*, Rahner N*, Schulmann K, Holinski-Feder E, Goecke TO, Schackert HK, Kloor M, Steinke V, Vogelsang H, Möslein G, Görgens H, Dechant S, von Knebel Doeberitz M, Rüschoff J, Friedrichs N, Büttner R, Loeffler M, Propping P, Schmiegel W; German HNPCC Consortium (2009).
  Efficacy of annual colonoscopic surveillance in individuals with Hereditary Non-Polyposis Cancer.
  Clin Gastroenterol Hepatol (2010) Feb;8(2):174-82. [Epub 2009 Oct 14]
  (IF:5.642)
• Meis S, Hamacher A, Hongwiset D, Marzian C, Wiese M, Eckstein N, Royer-HD, Communi D, Boeynaems JM, Hausmann R, Schmalzing G, Kassack MU.
  NF546 [4,4''-(carbonylbis(imino-3,1-phenylene-carbonylimino-3,1(4-methyl-phe-nylene)-carbonylimino))-bis(1,3-xylene-{alpha},{alpha}''-diphosphonic acid) tetra-sodium salt] is a non-nucleotide P2Y11 agonist and stimulates release of IL-8 from human monocyte-derived dendritic cells.
  J  Pharmacol Exp Ther (2010) 332:238-47 [Epub 2009 Oct 8]
  (IF:4.09)
• Krieger ML, Eckstein N, Schneider V, Koch M, Royer HD, Jaehde U, Bendas G.
  Overcoming cisplatin resistance of ovarian cancer cells by targeted liposomes in vitro.
  Int J Pharm (2010) 389:10-7 [Epub 2010 Jan 7]
  (IF:2.962)
• Magdolen U, Schmitt M, Hildebrandt B, Diehl P, Schauwecker J, Saldamli B, Burgkart R, Tübel J, Gradinger R, Royer-Pokora B.
  Spontaneous in vitro transformation of primary human osteoblast-like cells.
  Cancer Genomics Proteomics (2010) 7:61-6
• Royer-Pokora B, Busch M, Beier M, Duhme C, de Torres C, Mora J, Brandt A, Royer HD.
  Wilms tumor cells with WT1 mutations have characteristic features of mesenchymal stem cells and express molecular markers of paraxial mesoderm.
  Hum Mol Genet (2010)19:1651-68 [Epub 2010 Jan 27]
  (IF:7.386)
• Schroeder T, Ruf L, Bernhardt A, Hildebrandt B, Aivado M, Aul C, Gattermann N, Haas R, Germing U.
  Distinguishing myelodysplastic syndromes (MDS) from idiopathic cytopenia of undetermined significance (ICUS): HUMARA unravels clonality in a subgroup of patients.
  Ann Oncol. (2010) Nov;21(11):2267-71. [Epub 2010 May 3].
  (IF:5.647)
• To K, Fotovati A, Reipas KM, Law JH, Hu K, Wang J, Astanehe A, Davies AH, Lee L, Stratford AL, Raouf A, Johnson P, Berquin IM, Royer HD, Eaves CJ, Dunn SE.
  Y-box binding protein-1 induces the expression of CD44 and CD49f leading to enhanced self-renewal, mammosphere growth, and drug resistance.
  Cancer Res (2010) 70:2840-51 [Epub 2010 Mar 23]
  (IF:7.543)
• Jürchott K, Kuban R-J, Krech T, Blüthgen N, Stein U, Walther W, Friese C, Kielbasa SM, Ungethüm U, Lund P, Knösel T, Kemmner W, Morkel M, Fritzmann J, Schlag PM, Birchmeier W, Krueger T, Sperling S, Sers C, Royer HD, Herzel H, and Schäfer R.
  Identification of Y-box binding protein 1 as a core regulator of MEK/ERK pathway-dependent gene signatures in colorectal cancer cells.
  PLoS Genet. (2010) Dec 2;6(12):e1001231
  (IF:9.53)
• Campa D, Pardini B, Naccarati A, Vodickova L, Novotny J, Steinke V, Rahner N, Holinski-Feder E, Morak M, Schackert HK, Görgens H, Kötting J, Betz B, Kloor M, Engel C, Büttner R, Propping P, Försti A, Hemminki K, Barale R, Vodicka P, Canzian F.
  Polymorphisms of genes coding for ghrelin and its receptor in relation to colorectal cancer risk: a two-step gene-wide case-control study.
  BMC Gastroenterol. (2010) Sep 28;10:112.
  (IF:1.886)
• Lascorz J, Försti A, Chen B, Buch S, Steinke V, Rahner N, Holinski-Feder E, Morak M, Schackert HK, Görgens H, Schulmann K, Goecke T, Kloor M, Engel C, Büttner R, Kunkel N, Weires M, Hoffmeister M, Pardini B, Naccarati A, Vodickova L, Novotny J, Schreiber S, Krawczak M, Bröring CD, Völzke H, Schafmayer C, Vodicka P, Chang-Claude J, Brenner H, Burwinkel B, Propping P, Hampe J, Hemminki K.
  Genome-wide association study for colorectal cancer identifies risk polymorphisms in German familial cases and implicates MAPK signalling pathways in disease susceptibility.
  Carcinogenesis. (2010) Sep;31(9):1612-9. [Epub 2010 July]
  (IF:4.795)
• Slade I, Stephens P, Douglas J, Barker K, Stebbings L, Abbaszadeh F, Pritchard-Jones K; FACT collaboration, Cole R, Pizer B, Stiller C, Vujanic G, Scott RH, Stratton MR, Rahman N (B. Royer-Pokora is a member of the FACT consortium).
  Constitutional translocation breakpoint mapping by genome-wide paired-end sequencing identifies HACE1 as a putative Wilms tumour susceptibility gene.
  J Med Genet. (2010) May;47(5):342-7. [Epub 2009 Nov 30].
  (IF:5.751)
• Salloch H, Reinacher-Schick A, Schulmann K, Pox C, Willert J, Tannapfel A, Heringlake S, Goecke TO, Aretz S, Stemmler S, Schmiegel W.
  Truncating mutations in Peutz-Jeghers syndrome are associated with more polyps, surgical interventions and cancers.
  Int J Colorectal Dis (2010) 25(1):97-107 [Epub 2009 Sep 2]
  (IF:2.102)

Impact factor SUMME aller publizierten Manuskripte 2010: 59.595

2009

• Balleisen S, Kuendgen A, Hildebrandt B, Haas R, Germing U.
  Prognostic relevance of achieving cytogenetic remission in patients with acute myelogenous leukemia or high-risk myelodysplastic syndrome following induction chemotherapy.
  Leuk Res (2009) 33:1189-1193
  (IF:2.358)
• Dallosso AR, Hancock AL, Szemes M, Moorwood K, Chilukamarri L, Tsai HH, Sarkar A, Barasch J, Vuononvirta R, Jones C, Pritchard-Jones, K, Royer-Pokora B, Lee SB, Owen C, Malik S, Feng Y, Frank M, Ward A, Brown KW, Malik K.
  Frequent long-range epigenetic silencing of protocadherin gene clusters on chromosome 5q31 in Wilms'' tumor.
  PLOS Genetics (2009) Nov;5(11):e1000745. Epub 2009 Nov 26.
  (IF:9.532)
• Eckstein N, Servan K, Hildebrandt B, Pölitz A, von Jonquières G, Wolf-Kümmeth S, Napierski I, Hamacher A, Kassack MU, Budczies J, Beier M, Dietel M, Royer-Pokora B, Denkert C, Royer HD.
  Hyperactivation of the insulin-like growth factor receptor I signaling pathway is an essential event for cisplatin resistance of ovarian cancer cells.
  Cancer Res (2009) 69:2996-300
  (IF:7.543)
• Eigelshoven S, Kameda G, Hübsch S, Angerstein W, Singh P, Vöhringer R, Goecke T, Mayatepek E, Ruzicka T, Wildhardt G, Meissner T, Kruse R.
  Waardenburg syndrome type I with heterochromia iridis and circumscribed hypopigmentation of the skin.
  Ped Dermatol (2009) 26:759-761
  (IF:1.031)
• Fischer L, Gökbuget N, Schwartz S, Burmeister T, Rieder H, Brüggemann M, Hoelzel D, Thiel E.
  CD56 expression in T-Cell acute lymphoblastic leukemia is associated with non-thymic phenotype and resistance to induction therapy but no inferior survival after risk-adapted therapy.
  Haematologica (2009) 94:224-229
  (IF:6.416)
• Gluz O, Mengele K, Schmitt M, Kates R, Diallo-Danebrock R, Neff F, Royer H-D, Eckstein N, Mohrmann S, Ting E, Kiechle M, Poremba C, Nitz U, Harbeck N.
  Y-box-binding protein YB-1 identifies high-risk patients with primary breast cancer benefiting from rapidly cycled tandem high-dose adjuvant chemotherapy.
  J Clin Oncol (2009) Dec 20;27(36):6144-51. Epub 2009 Nov 9.
  (IF:17.793)
• Sadr-Nabavi A, Ramser J, Volkmann J, Naehrig J, Wiesmann F, Betz B, Hellebrand H, Engert S, Seitz S, Kreutzfeld R, Sasaki T, Arnold N, Schmutzler R, Kiechle M, Niederacher D, Harbeck N, Dahl E, Meindl A.
  Decreased expression of angiogenesis antagonist EFEMP1 in sporadic breast cancer is caused by aberrant promoter methylation and points to an impact of EFEMP1 as molecular biomarker.
  Int J Cancer (2009) Apr 1;124(7):1727-35.
  (IF:4.722)
• Neumann TE, Allanson J, Kavamura I, Kerr B, Neri G, Noonan J, Cordeddu V, Gibson K, Tzschach A, Krüger G, Hoeltzenbein M, Goecke TO, Kehl HG, Albrecht B, Luczak K, Sasiadek MM, Musante L, Laurie R, Peters H, Tartaglia M, Zenker M, Kalscheuer V.
  Multiple giant cell lesions in patients with Noonan syndrome and cranio-facio-cutaneous syndrome.
  Eur J Hum Genet (2009) 17:420-425
  (IF:3.564)
• Papaemmanuil E, Carvajal-Carmona L, Sellick GS, Kemp Z, Webb E, Spain S, Sullivan K, Barclay E, Lubbe S, Jaeger E, Vijayakrishnan J, Broderick P, Gorman M, Martin L, Lucassen A, Bishop DT, Evans DG, Maher ER, Steinke V, Rahner N, Schackert HK, Goecke TO, Holinski-Feder E, Propping P, Van Wezel T, Wijnen J, Cazier JB, Thomas H, Houlston RS, Tomlinson I, CORGI Consortium.
  Deciphering the genetics of hereditary non-syndromic colorectal cancer.
  Eur J Hum Genet (2009) 16:1477-1486
  (IF:3.564)
• Weinspach S, Siepermann M, Schaper J, Sarikaya-Seiwert S, Rieder H, Gerigk M, Höhn T, Laws HJ.
  Intracranial hemorrhage in a female leading to the diagnosis of severe hemophilia A and Turner syndrome.
  Klin Pädiatr (2009) 221:167-171
  (IF:2.102)
• Richter JG, Gossen P, Germing U, Blum S, Hildebrandt B, Braunstein S, Huscher D, Schneider M.
  [Rationale for bone marrow examination in patients with inflammatory rheumatic diseases].
  Wien Klin Wochenschr. (2009) 121(21-22):690-9.
  (IF: 0.955)

Impact factor SUMME aller publizierten Manuskripte 2009: 59.58

2008

• Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms tumor
  Nat Genet. 2008;40(11): 1329-1334
  Scott RH, Douglas J, Baskcomb L, Huxter N, Barker K, Hanks S, Craft A, Gerrard M, Kohler JA, Levitt GA, Picton S, Pizer B, Ronghe MD, Williams D; Factors Associated with Childhood Tumours (FACT) Collaboration, Cook JA, Pujol P, Maher ER, Birch JM, Stiller CA, Pritchard-Jones K, Rahman N.
  Collaborators: Arbour L, Bonaïti-Pellié C, Cannon-Albright L, Chompret A, Cole T, Dhooge C, Dupuis W, Foot A, Foulkes W, Galvin H, Gnekow A, Graf N, King D, Kingston J, Lewis I, Millot F, O''Meara A, Price H, Royer-Pokora B, Schumacher V, Schwartz C, Shannon R, Sheridan E, Tonin P, Weirih A
• MLPA screening in the BRCA1 gene from 1,506 German hereditary breast cancer cases: novel deletions, frequent involvement of exon 17, and occurence in single early-onset cases
  Hum. Mutat. 2008;29: 948-958
  Engert, S, Wappenschmidt, B, Betz, B, Kast, K, Kutsche, M, Hellebrand, H, Goecke, T.O, Kiechle, M, Niederacher, D, Schmutzler, R.K, Meindl, A
• Ten recently identified associations between nsSPs and colorectal cancer could not be replicated in German families
  Cancer Lett. 2008;[Epub ahead of print]
  Frank, B, Burwinkel, B, Bermejo, J.L, Försti, A, Hemminki, K, Houlston, R, Mangold, E, Rahner, N, Friedl,W, Friedrichs, N, Buettner, R, Engel, C, Loeffler, M, Holinski-Feder, E, Morak, M, Keller, G, Schackert, H.K, Krüger, S, Goecke, T, Moeslein, G, Kloor, M, Gebert, J, Kunstmann, E, Schulmann, K, Rüschoff, J, Propping, P; The German HNPCC Consortium
• Congenital central hypoventilation syndrome with hyperinsulinism in a preterm infant
  J. Hum. Genet. 2008;27: 457-466
  Hennewig, U, Hadzik, B, Vogel, M, Meissner, T, Goecke, T, Peters, H, Selzer, G, Mayatepek, E, Hoehn, T
• Presence of peripheral blasts in refractory anemia and refractory cytopenia with multilineage dysplasia predicts an unfavourable outcome
  Leuk. Res. 2008;32: 33
  Knipp, S, Strupp, C, Gattermann, N, Hildebrandt, B, Schapira, M, Giagounidis, A, Aul, C, Haas, R, Germing, U
• Ulna/Height ratio as clinical parameter separating EXT1 from EXT2 families?
  Genetic Testing 2008;12: 129-133
  Leube, B, Hardt, K, Portier, S, Westhoff, B, Jäger, M, Krauspe, R, Royer-Pokora, B
• Further evidence for heritability of an epimutation in one of 12 cases with MLH1 promoter methylation in blood cells clinically displaying HNPCC
  Eur. J. Hum. Genet. 2008;16: 804-811
  Morak, M, Schackert, H.K, Rahner, N, Betz, B, Ebert, M, Walldorf, C, Royer-Pokora, B, Schulmann, K, von Knebel-Doeberitz, M, Dietmaier, W, Keller, G, Kerker, B, Leitner, G, Holinski-Feder, E
• Therapy adapted to molecular response in patients with chronic myelogenous leukaemia in first chronic phase: results of the Duesseldorf study
  Hematol. Oncol. 2008;[Epub ahead of print]
  Neumann, F, Markett, J, Fenk, R, Pooten, M, Koch, A, Bruennert, D, Schimkus, N, Wulfert, M, Royer-Pokora, B, Kronenwett, R, Haas, R, Gattermann, N
• Deciphering the genetics of hereditary non-syndromic colorectal cancer
  Eur. J. Hum. Genet.[Epub ahead of print]
  Papaemmanuil, E, Carvajal-Carmona, L, Sellick, G.S, Webb, E, Spain, S, Sullivan, K, Barkley, E, Lubbe, S, Jaeger, E, Vijayakrishnan, J, Broderick, P, Gorman, M, Martin, L, Lucassen, A, Bishop, D.T,Evans, D.G, Maher, E.R, Steinke, V, Rahner, N, Schackert, H.K, Goecke, T.O, Holinski-Feder, E, Propping, P, Van Wezel, T, Wijnen, J, Cazer, J.B, Thomas, H, Houlston, R.S, Tomlinson, I
• Mutations in the pericentrin (PCNT) gene cause primordial dwarfism
  Science 2008; 319: 816
  Rauch, A, Thiel, C, Schindler, D, Wick, U, Crow, Y.J, Ekici, A.B, van Essen, A, Goecke, T.O, Al-Gazali, L, Chrzanowska, K.H, Zweier, C, Brunner, H.G, Becker, K, Curry, C.J, Dallapiccola, B, Devriendt, K, Dörfler, A, Kinning, E, Megarbane, A, Meinecke, P, Semple, R.K, Spranger, S, Toutain, A, Trembath, R.C, Voss, E, Wilson, L, Hennekam, R, de Zegher, F, Dörr, H.-G, Reis, A
• Clinical relevance of mutations in the Wilms tumor suppressor 1 gene WT1 and the cadherin-associated protein beta1 gene CTNNB1 for patients with Wilms tumors: results of long-term surveillance of 71 patients from International Society of Pediatric Oncology Study 9/Society for Pediatric Oncology
  Cancer 2008;113: 1080-1089
  Royer-Pokora, B, Weirich, A, Schumacher, V, Uschkereit, C, Beier, M, Leuschner, I, Graf, N, Autschbach, F, Schneider, D, von Harrach, M
• Characteristics of testicular dysgenesis syndromes and decreased expression of SRY and SOX9 in Frasier syndrome
  Mol. Reprod. Dev. 2008;75: 1484-1494
  Schumacher, V, Gueler, B, Looijenga, L.H, Becker, J.U, Amann, K, Engers, R, Dotsch, J, Stoop, H, Schulz, W, Royer-Pokora, B
• No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients
  Eur. J. Hum. Genet. 2008;16: 587-592
  Steinke, V, Rahner, N, Morak, M, Keller, G, Schackert, H.K, Görgens, H, Schmiegel, W, Royer-Pokora, B, Dietmaier, W, Kloor, M, Engel, C, Propping,P, Aretz, S; for The German HNPCC Consortium

2007

• Hypomethylation and aberrant expression of the glioma pathogenesis-related 1 gene in Wilms' tumours
  Neoplasia 2007;9(11): 970-8
  Chilukamarri L, Hancock AL, Malik S, Zabkiewicz J, Baker JA, Dallosso AR, Hui-Ming Huang T, Royer-Pokora B, Brown KW, Malik K
• Molecular definition of chromosome arm 5q deletion end points and detection of hidden aberrations in patients with myelodysplastic syndromes and isolated del(5q) using oligonucleotide array CGH
  Genes, Chromosomes Cancer 2007;46(12): 1119-28
  Evers C, Beier M, Hildebrandt B, Poelitz A, Servan K, Drechsler M, Germing U, Royer HD, Royer-Pokora B
• A novel transcript of the LMO2 gene, LMO2-c, is regulated by GATA-1 and PU.1 and encodes an antagonist of LMO2
  Leukemia 2007;21: 1015
  Wang Q, Zhang M, Wang X, Yuan W, Chen D, Royer-Pokora B, Zhu T
• Different CTNNB1 mutations as molecular genetic proof for the independent origin of four Wilms tumours in a patient with a novel germ line WT1 mutation
  J. Med. Genet. 2007;44: 393
  Uschkereit C, Perez N, de Torres C, Küff M, Mora J, Royer-Pokora B
• Impaired glomerular maturation and lock of VEGF165b in Denys-Drash syndrome
  J. Am. Soc. Nephrol. 2007;18: 719
  Schumacher VA, Jeruschke S, Eitner F, Becker JU, Pitschke G, Ince Y, Miner JH, Engers R, Schulze Everding A, Bulla M, Royer-Pokora B
• The tyrosine-kinase inhibitor induces long-term remission in a patient with chronic myelogenous leukemia with translocation t(4;22)
  Leukemia 2007;21: 836
  Neumann F, Poelitz A, Hildebrandt B, Fenk R, Haas R, Royer-Pokora B, Germing U
• Time-dependent prognostic scoring system for predicting survival and leukemic evolution in myelodysplastic syndromes
  J. Clin. Oncol. 2007;25: 3503
  Malcovati L, Germing U, Kuendgen A, Della Porta MG, Pascutto C, Invernizzi R, Giagounidis A, Hildebrandt B, Bernasconi P, Knipp S, Strupp C, Lazzarino M, Aul C, Cazzola M
• The additive effect of p53 Arg72Pro and RNASEL Arg462Gln genotypes on age of disease onset in Lynch syndrome patients with pathogeneetic germline mutations in MSH2 or MLH1
  Cancer Lett. 2007;252: 55
  Kruger S, Engel C, Bier A, Silber AS, Gorgens H, Mangold E, Pagenstecher C, Holinski-Feder E, von Knebel Doeberitz M, Royer-Pokora B, Dechant S, Pox C, Rahner N, Muller A, Schackert HK; The German HNPCC Consortium
• Clinical outcome and genotype in patients with hereditary multiple exostoses
  J. Orthop. Res. 2007;[Epub ahead of print]
  Jäger M, Westhoff B, Portier S, Leube B, Hardt K, Royer-Pokora B, Goßheger G, Krauspe R
• New insights into the prognostic impact of the karyotype in MDS and correlation with subtypes: evidence from a core dataset of 2124 patients
  Blood 2007;[Epub ahead of print]
  Haase, D., Germing, U., Schanz, J., Pfeilstocker, M., Nosslinger, T., Hildebrandt, B., Kundgen, A., Lubbert, M., Kunzmann, R., Giagounidis, A.A., Aul, C., Trumper, L., Krieger, O., Stauder, R., Muller, T.H., Wimazal, F., Valent, P., Fonatsch, C., Steidl, C.
• Chronic myelomonocytic leukemia (CMML) in the light of the WHO proposals
  Haematologica 2007;92: 970
  Germing, U., Strupp, C., Knipp, S., Kündgen, A., Giagounidis, A., Hildebrandt, B., Aul, C., Haas, R., Gattermann, N., Bennett, J.M.
• Evaluation of mathematical models for breast cancer risk assessment in routine clinical use
  Eur. J. of Cancer Prevention 2007;16: 216
  Fasching, P.A., Bani, M.R., Nestle-Krämling, C., Goecke, T.O., Niederacher, D., Beckmann, M.W., Lux, M.P.
• Fusion of H4/D10S170 to PDGFRbeta in a patient with chronic myelomonocytic leukemia and long-term responsiveness to imatinib
  Ann. Hematol. 2007;86: 353
  Drechsler M, Hildebrandt B, Kündgen A, Germing U, Royer-Pokora B
• Allelic loss in a minimal region on chromosome 16q24 is associated with vitreous seeding of retinoblastoma.
  Cancer Res. 2007;67(1): 408-16 (Impact(2006)=7.656, Typ=Article; Journal Article; Research Support, Non-U.S. Gov''t) 
  Gratias S, Rieder H, Ullmann R, Klein-Hitpass L, Schneider S, Bölöni R, Kappler M, Lohmann DR
• Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.
  J Med Genet. 2007;44(2): 131-5 (Impact(2006)=5.087, Typ=Journal Article)
  Zenker M, Lehmann K, Schulz AL, Barth H, Hansmann D, Koenig R, Korinthenberg R, Kreiss-Nachtsheim M, Meinecke P, Morlot S, Mundlos S, Quante AS, Raskin S, Schnabel D, Wehner LE, Kratz CP, Horn D, Kutsche K
• Induction of complete remission in a patient with acute myeloid leukemia refractory to high-dose chemotherapy through treatment with 5-azacytidine.
  Leuk Res. 2007;31(3): 407-9 (Impact(2006)=2.483, Typ=Article; Journal Article)
  Kuendgen A, Gräf T, Zohren F, Hildebrandt B, Hünerlitürkoglu A, Gattermann N, Haas R, Kobbe G
• Utility of MLPA in deletion analysis of GCH1 in dopa-responsive dystonia.
  Neurogenetics. 2007;8(1): 51-55 (Impact(2006)=4.25, Typ=Article; Journal Article)
  Steinberger D, Trübenbach J, Zirn B, Leube B, Wildhardt G, Müller U

2006

• Paternal and maternal lineages in the Balkans show a homogeneous landscape over linguistic barriers, except for the isolated Aromuns.
  Ann Hum Genet. 2006;70(Pt 4): 459-87 (Impact(2006)=2.727, Typ=Journal Article; Research Support, Non-U.S. Gov''t; Comparative Study; Article)
  Bosch E, Calafell F, González-Neira A, Flaiz C, Mateu E, Scheil HG, Huckenbeck W, Efremovska L, Mikerezi I, Xirotiris N, Grasa C, Schmidt H, Comas D
• Blood group and serum protein polymorphisms in a population group of Moldavians.
  Anthropol Anz. 2006;64(1): 51-8 (Impact(2006)=0, Typ=Journal Article)
  Varsahr AM, Scheil HG, Schmidt HD
• Hematologic disorders, immunosuppressive treatment and rheumatic diseases.
  Arthritis Rheum. 2006;54(9): S655-S656 (Impact(2006)=7.751, Typ=Meeting Abstract)
  Richter J, Gossen P, Germing U, Hildebrandt B, Schneider M
• NUP214-ABL1 in adult T-ALL: the GMALL study group experience.
  Blood. 2006;108(10): 3556-9 (Impact(2006)=10.37, Typ=Journal Article; Research Support, Non-U.S. Gov''t; Article)
  Burmeister T, Gökbuget N, Reinhardt R, Rieder H, Hoelzer D, Schwartz S
• X-linked sideroblastic anemia associated with a novel ALAS2 mutation and unfortunate skewed X-chromosome inactivation patterns.
  Blood Cells Mol Dis. 2006;37(1): 40-5 (Impact(2006)=2.678, Typ=Journal Article; Research Support, Non-U.S. Gov''t; Research Support, U.S. Gov''t, Non-P.H.S.; Article)
  Aivado M, Gattermann N, Rong A, Giagounidis AA, Prall WC, Czibere A, Hildebrandt B, Haas R, Bottomley SS
• Refractory anaemia with excess of blasts (RAEB): analysis of reclassification according to the WHO proposals (vol 132, pg 162, 2006)
  Br J Haematol. 2006;134(2): 247-247 (Impact(2006)=4.498, Typ=Correction)
  Germing U, Strupp C, Kuendgen A, Aivado M, Giagounidis A, Hildebrandt B, Aul C, Haas R, Gattermann N
• Refractory anaemia with excess of blasts (RAEB): analysis of reclassification according to the WHO proposals.
  Br J Haematol. 2006;132(2): 162-7 (Impact(2006)=4.498, Typ=Journal Article; Article)
  Germing U, Strupp C, Kuendgen A, Aivado M, Giagounidis A, Hildebrandt B, Aul C, Haas R, Gattermann N
• Delayed diagnosis and complications of Fanconi anaemia at advanced age - a paradigm
  Br J Haematol. 2006;133(2): 188-197 (Impact(2006)=4.498, Typ=Article)
  Huck K, Hanenberg H, Gudowius S, Fenk R, Kalb R, Neveling K, Betz B, Niederacher D, Haas R, Gobel U, Kobbe G, Schindler D
• The histone deacetylase (HDAC) inhibitor valproic acid as monotherapy or in combination with all-trans retinoic acid in patients with acute myeloid leukemia.
  Cancer. 2006;106(1): 112-9 (Impact(2006)=4.582, Typ=Journal Article; Clinical Trial; Article)
  Kuendgen A, Schmid M, Schlenk R, Knipp S, Hildebrandt B, Steidl C, Germing U, Haas R, Dohner H, Gattermann N
• Evaluation of the 4q32-34 locus in European familial pancreatic cancer.
  Cancer Epidemiol Biomarkers Prev. 2006;15(10): 1948-55 (Impact(2006)=4.289, Typ=Journal Article; Research Support, Non-U.S. Gov''t; Article)
  Earl J, Yan L, Vitone LJ, Risk J, Kemp SJ, McFaul C, Neoptolemos JP, Greenhalf W, Kress R, Sina-Frey M, Hahn SA, Rieder H, Bartsch DK
• Delineation by molecular cytogenetics of 5q deletion breakpoints in myelodyplastic syndromes and acute myeloid leukemia.
  Cancer Genet Cytogenet. 2006;167(1): 66-9 (Impact(2006)=1.544, Typ=Journal Article; Research Support, Non-U.S. Gov''t; Comparative Study; Article)
  Royer-Pokora B, Trost D, Müller N, Hildebrandt B, Germing U, Beier M
• Molecular cytogenetic profiling of complex karyotypes in primary myelodysplastic syndromes and acute myeloid leukemia.
  Cancer Genet Cytogenet. 2006;165(1): 51-63 (Impact(2006)=1.544, Typ=Journal Article; Article)
  Trost D, Hildebrandt B, Beier M, Müller N, Germing U, Royer-Pokora B
• Frequency and spectrum of cancers in the Peutz-Jeghers syndrome.
  Clin Cancer Res. 2006;12(10): 3209-15 (Impact(2006)=6.177, Typ=Journal Article; Research Support, Non-U.S. Gov''t; Article)
  Hearle N, Schumacher V, Menko FH, Olschwang S, Boardman LA, Gille JJ, Keller JJ, Westerman AM, Scott RJ, Lim W, Trimbath JD, Giardiello FM, Gruber SB, Offerhaus GJ, de Rooij FW, Wilson JH, Hansmann A, Möslein G, Royer-Pokora B, Vogel T, Phillips RK, Spigelman AD, Houlston RS
• Low Frequency of CHEK2 Mutations in Familial Pancreatic Cancer.
  Fam Cancer. 2006;5(4): 305-8 (Impact(2006)=0, Typ=Journal Article; Article)
  Bartsch DK, Krysewski K, Sina-Frey M, Fendrich V, Rieder H, Langer P, Kress R, Schneider M, Hahn SA, Slater EP
• Anticipation in familial pancreatic cancer.
  Gut. 2006;55(2): 252-8 (Impact(2006)=9.002, Typ=Journal Article; Research Support, Non-U.S. Gov''t; Article)
  McFaul CD, Greenhalf W, Earl J, Howes N, Neoptolemos JP, Kress R, Sina-Frey M, Rieder H, Hahn S, Bartsch DK
• Prospective validation of the WHO proposals for the classification of myelodysplastic syndromes.
  Haematologica Hematol J. 2006;91(12): 1596-604 (Impact(2006)=5.032, Typ=Journal Article; Validation Studies; Research Support, Non-U.S. Gov''t; Comparative Study; Article)
  Germing U, Strupp C, Kuendgen A, Isa S, Knipp S, Hildebrandt B, Giagounidis A, Aul C, Gattermann N, Haas R
• Communicating BRCA1 and BRCA2 genetic test results.
  J Clin Oncol. 2006;24(18): 2969-70; author reply 297 (Impact(2006)=13.598, Typ=Comment; Letter; Research Support, Non-U.S. Gov''t; Letter)
  Gadzicki D, Wingen LU, Teige B, Horn D, Bosse K, Kreuz F, Goecke T, Schäfer D, Voigtländer T, Fischer B, Froster U, Welling B, Debatin I, Weber BH, Schönbuchner I, Nippert I, Schlegelberger B
• Genotype-phenotype comparison of German MLH1 and MSH2 mutation carriers clinically affected with Lynch syndrome: a report by the German HNPCC Consortium.
  J Clin Oncol. 2006;24(26): 4285-92 (Impact(2006)=13.598, Typ=Journal Article; Multicenter Study; Research Support, Non-U.S. Gov''t; Comparative Study; Article)
  Goecke T, Schulmann K, Engel C, Holinski-Feder E, Pagenstecher C, Schackert HK, Kloor M, Kunstmann E, Vogelsang H, Keller G, Dietmaier W, Mangold E, Friedrichs N, Propping P, Krüger S, Gebert J, Schmiegel W, Rueschoff J, Loeffler M, Moeslein G
• Myelodysplastic syndromes in patients younger than age 50.
  J Clin Oncol. 2006;24(34): 5358-65 (Impact(2006)=13.598, Typ=Journal Article; Article)
  Kuendgen A, Strupp C, Aivado M, Hildebrandt B, Haas R, Gattermann N, Germing U
• STK11 status and intussusception risk in Peutz-Jeghers syndrome.
  J Med Genet. 2006;43(8): e41 (Impact(2006)=5.087, Typ=Letter; Research Support, Non-U.S. Gov''t; Article)
  Hearle N, Schumacher V, Menko FH, Olschwang S, Boardman LA, Gille JJ, Keller JJ, Westerman AM, Scott RJ, Lim W, Trimbath JD, Giardiello FM, Gruber SB, Offerhaus GJ, Rooij FW, Wilson JH, Hansmann A, Möslein G, Royer-Pokora B, Vogel T, Phillips RK, Spigelman AD, Houlston RS
• Gene expression in acute Stanford type A dissection: a comparative microarray study.
  J Transl Med. 2006;4: 29 (Impact(2006)=0, Typ=Journal Article; Article)
  Weis-Müller BT, Modlich O, Drobinskaya I, Unay D, Huber R, Bojar H, Schipke JD, Feindt P, Gams E, Müller W, Goecke T, Sandmann W
• Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders.
  Kidney Int. 2006;70(6): 1008-12 (Impact(2006)=4.773, Typ=Journal Article; Research Support, Non-U.S. Gov''t; Research Support, N.I.H., Extramural; Article)
  Hasselbacher K, Wiggins RC, Matejas V, Hinkes BG, Mucha B, Hoskins BE, Ozaltin F, Nürnberg G, Becker C, Hangan D, Pohl M, Kuwertz-Bröking E, Griebel M, Schumacher V, Royer-Pokora B, Bakkaloglu A, Nürnberg P, Zenker M, Hildebrandt F
• A novel WT1 missense mutation presenting with Denys-Drash syndrome and cortical atrophy.
  Nephrol Dial Transplant. 2006;21(2): 518-21 (Impact(2006)=3.154, Typ=Journal Article; Article)
  Schumacher V, Thumfart J, Drechsler M, Essayie M, Royer-Pokora B, Querfeld U, Müller D

2005

• An algorithm and tool for computing exact conditional probabilities of configuration frequencies.
  Psychology Science 2005;47: 341-400
  Beier M
• Prognosis of patients with del(5q) MDS and complex karyotype and the possible role of lenalidomide in this patient subgroup.
  Ann Hematol. 2005;84(9): 569-71 (Impact(2006)=2.254, Typ=Journal Article; Case Reports; Article)
  Giagounidis AA, Germing U, Strupp C, Hildebrandt B, Heinsch M, Aul C
• Results of a phase 2 study of valproic acid alone or in combination with all-trans retinoic acid in 75 patients with myelodysplastic syndrome and relapsed or refractory acute myeloid leukemia
  Ann Hematol. 2005;84 Suppl.: 61-66 (Impact(2006)=2.254, Typ=Article)
  Kuendgen A, Knipp S, Fox F, Strupp C, Hildebrandt B, Steidl C, Germing U, Haas R, Gattermann N
• Haemogenetic studies in Bulgaria.
  Anthropol Anz. 2005;63(2): 141-51 (Impact(2006)=0, Typ=Journal Article)
  Baltova S, Scheil HG, Schmidt HD
• Dermatoglyphic studies in eastern and south-eastern Europe.
  Anthropol Anz. 2005;63(4): 393-9 (Impact(2006)=0, Typ=Journal Article)
  Scheil HG, Schmidt HD, Baltova S, Djordjevic D, Vulpe C, Siváková D, Efremovska L
• CyDAS: a cytogenetic data analysis system.
  Bioinformatics. 2005;21(7): 1282-3 (Impact(2006)=4.894, Typ=Journal Article; Article)
  Hiller B, Bradtke J, Balz H, Rieder H
• CD10(-) pre-B acute lymphoblastic leukemia (ALL): A distinct high-risk subgroup of adult ALL.
  Blood. 2005;106(11): 416A-417A (Impact(2006)=10.37, Typ=Meeting Abstract)
  Gleissner B, Goekbuget N, Rieder H, Hoelzer D, Thiel E
• CD10- pre-B acute lymphoblastic leukemia (ALL) is a distinct high-risk subgroup of adult ALL associated with a high frequency of MLL aberrations: results of the German Multicenter Trials for Adult ALL (GMALL).
  Blood. 2005;106(13): 4054-6 (Impact(2006)=10.37, Typ=Journal Article; Multicenter Study; Article)
  Gleissner B, Goekbuget N, Rieder H, Arnold R, Schwartz S, Diedrich H, Schoch C, Heinze B, Fonatsch C, Bartram CR, Hoelzer D, Thiel E
• Correlation of cytogenetic findings with morphology, clinical course and prognosis in 2124 patients with MDS.
  Blood. 2005;106(11): 232A-232A (Impact(2006)=10.37, Typ=Meeting Abstract)
  Haase D, Steidl C, Schanz J, Schabla R, Pfeilstocker M, Nosslinger T, Hildebrandt B, Kuendgen A, Lubbert M, Kunzmann B, Giagounidis A, Auls C, Trumper L, Krieger O, Fonatsch C, Valent P, Stauder R, Germing U
• Induction of complete remission with 5-azacytidine in a patient with acute myeloid leukemia refractory to intensive chemotherapy.
  Blood. 2005;106(11): 229B-229B (Impact(2006)=10.37, Typ=Meeting Abstract)
  Kuendgen A, Graef T, Knipp S, Hildebrandt B, Czibere A, Huenerlituerkoglu AN, Germing U, Haas R, Gattermann N, Kobbe G
• Valproic acid (VPA) achieves high response rates in patients with low-risk myelodysplastic syndromes.
  Blood. 2005;106(11): 233A-233A (Impact(2006)=10.37, Typ=Meeting Abstract)
  Kuendgen A, Schmid M, Knipp S, Czibere A, Hildebrandt B, Steidl C, Haas R, Germing U, Doehner H, Gattermann N
• A WHO classification-based prognostic scoring system (WPSS) for predicting survival in myelodysplastic syndromes.
  Blood. 2005;106(11): 232A-233A (Impact(2006)=10.37, Typ=Meeting Abstract)
  Malcovati L, Germing U, Kuendgen A, Della Porta MG, Invernizzi R, Giagounidis A, Hildebrandt B, Bernasconi P, Knipp S, Lazzarino M, Strupp C, Cazzola M
• Sequential cytogenetic analyses of 577 patients with myelodysplastic syndromes: Correlations between initial karyotype, cytogenetic dynamics, and clinical course.
  Blood. 2005;106(11): 711A-711A (Impact(2006)=10.37, Typ=Meeting Abstract)
  Steidl C, Schabla R, Germing U, Hildebrandt B, Noesslinger T, Pfeilstoecker M, Giagounidis A, Kunzmann R, Haas P, Luebbert M, Truemper L, Haase D
• High-dose idarubicin, cyclophosphamide and melphalan as conditioning for autologous stem cell transplantation increases treatment-related mortality in patients with multiple myeloma: results of a randomised study.
  Br J Haematol. 2005;130(4): 588-94 (Impact(2006)=4.498, Typ=Journal Article; Clinical Trial; Randomized Controlled Trial; Article)
  Fenk R, Schneider P, Kropff M, Huenerlituerkoglu AN, Steidl U, Aul C, Hildebrandt B, Haas R, Heyll A, Kobbe G
• YB-1 provokes breast cancer through the induction of chromosomal instability that emerges from mitotic failure and centrosome amplification.
  Cancer Res. 2005;65(10): 4078-87 (Impact(2006)=7.656, Typ=Journal Article; Article)
  Bergmann S, Royer-Pokora B, Fietze E, Jürchott K, Hildebrandt B, Trost D, Leenders F, Claude JC, Theuring F, Bargou R, Dietel M, Royer HD
• Increased uterine arterial pressure and contractility of perfused swine uterus after treatment with serum from pre-eclamptic women and endothelin-1.
  Clin Sci (Lond). 2005;109(2): 209-15 (Impact(2006)=3.263, Typ=Journal Article; Article)
  Maltaris T, Scalera F, Schlembach D, Hoffmann I, Mueller A, Binder H, Goecke T, Hothorn T, Schild RL, Beckmann MW, Dittrich R
• Stress induced changes in lymphocyte subpopulations and associated cytokines during whole body hyperthermia of 41.8-42.2 degrees C.
  Eur J Appl Physiol. 2005;95(4): 298-306 (Impact(2006)=1.601, Typ=Journal Article; Article)
  Ahlers O, Hildebrandt B, Dieing A, Deja M, Böhnke T, Wust P, Riess H, Gerlach H, Kerner T
• Age of uptake of early cancer detection facilities by low-risk and high-risk patients with familial breast and ovarian cancer.
  Eur J Cancer Prev. 2005;14(6): 503-11 (Impact(2006)=1.993, Typ=Journal Article; Article)
  Lux MP, Ackermann S, Bani MR, Nestle-Krämling C, Goecke TO, Niederacher D, Bodden-Heidrich R, Bender HG, Beckmann MW, Fasching PA
• Use of intensified early cancer detection in high-risk patients with familial breast and ovarian cancer.
  Eur J Cancer Prev. 2005;14(4): 399-411 (Impact(2006)=1.993, Typ=Journal Article; Article)
  Lux MP, Ackermann S, Nestle-Krämling C, Goecke TO, Niederacher D, Bodden-Heidrich R, Bender HG, Beckmann MW, Fasching PA
• Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification.
  Eur J Med Genet. 2005;48(4): 397-411 (Impact(2006)=1.614, Typ=Journal Article; Article)
  Tasse C, Böhringer S, Fischer S, Lüdecke HJ, Albrecht B, Horn D, Janecke A, Kling R, König R, Lorenz B, Majewski F, Maeyens E, Meinecke P, Mitulla B, Mohr C, Preischl M, Umstadt H, Kohlhase J, Gillessen-Kaesbach G, Wieczorek D
• Secondary myelodysplastic syndromes following treatment with azathioprine are associated with aberrations of chromosome 7.
  Haematologica Hematol J. 2005;90(5): 691-3 (Impact(2006)=5.032, Typ=Letter; Letter)
  Knipp S, Hildebrandt B, Richter J, Haas R, Germing U, Gattermann N
• Gene symbol: STK11. Disease: Peutz-Jeghers syndrome.
  Hum Genet. 2005;116(6): 540 (Impact(2006)=3.662, Typ=Journal Article)
  Schumacher V, Vogel T, Leube B, Driemel C, Goecke T, Moeslein G, Royer-Pokora B
• Gene symbol: STK11. Disease: Peutz-Jeghers syndrome.
  Hum Genet. 2005;116(6): 537 (Impact(2006)=3.662, Typ=Journal Article)
  Schumacher V, Vogel T, Leube B, Driemel C, Goecke T, Moeslein G, Royer-Pokora B
• Gene symbol: STK11. Disease: Peutz-Jeghers syndrome.
  Hum Genet. 2005;116(6): 541 (Impact(2006)=3.662, Typ=Journal Article)
  Schumacher V, Vogel T, Leube B, Driemel C, Goecke T, Moeslein G, Royer-Pokora B
• Gene symbol: STK11. Disease: Peutz-Jeghers syndrome.
  Hum Genet. 2005;116(6): 533 (Impact(2006)=3.662, Typ=Journal Article)
  Schumacher V, Vogel T, Leube B, Driemel C, Goecke T, Moeslein G, Royer-Pokora B
• RNASEL germline variants are associated with pancreatic cancer.
  Int J Cancer. 2005;117(5): 718-22 (Impact(2006)=4.693, Typ=Journal Article; Article)
  Bartsch DK, Fendrich V, Slater EP, Sina-Frey M, Rieder H, Greenhalf W, Chaloupka B, Hahn SA, Neoptolemos JP, Kress R
• Genomic gains on chromosome 1q in retinoblastoma: consequences on gene expression and association with clinical manifestation.
  Int J Cancer. 2005;116(4): 555-63 (Impact(2006)=4.693, Typ=Journal Article; Article)
  Gratias S, Schüler A, Hitpass LK, Stephan H, Rieder H, Schneider S, Horsthemke B, Lohmann DR
• Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer.
  Int J Cancer. 2005;116(5): 692-702 (Impact(2006)=4.693, Typ=Journal Article; Article)
  Mangold E, Pagenstecher C, Friedl W, Mathiak M, Buettner R, Engel C, Loeffler M, Holinski-Feder E, Müller-Koch Y, Keller G, Schackert HK, Krüger S, Goecke T, Moeslein G, Kloor M, Gebert J, Kunstmann E, Schulmann K, Rüschoff J, Propping P
• STK11 genotyping and cancer risk in Peutz-Jeghers syndrome.
  J Med Genet. 2005;42(5): 428-35 (Impact(2006)=5.087, Typ=Letter; Article)
  Schumacher V, Vogel T, Leube B, Driemel C, Goecke T, Möslein G, Royer-Pokora B
• Adequate cytogenetic examination in myelodysplastic syndromes: analysis of 529 patients.
  Leuk Res. 2005;29(9): 987-93 (Impact(2006)=2.483, Typ=Journal Article; Article)
  Steidl C, Steffens R, Gassmann W, Hildebrandt B, Hilgers R, Germing U, Trümper L, Haase D
• Molecular heterogeneity of sporadic adult Burkitt-type leukemia/lymphoma as revealed by PCR and cytogenetics: correlation with morphology, immunology and clinical features.
  Leukemia. 2005;19(8): 1391-8 (Impact(2006)=6.146, Typ=Journal Article; Article)
  Burmeister T, Schwartz S, Horst HA, Rieder H, Gökbuget N, Hoelzer D, Thiel E
• Single-agent thalidomide for treatment of first relapse following high-dose chemotherapy in patients with multiple myeloma.
  Leukemia. 2005;19(1): 156-9 (Impact(2006)=6.146, Typ=Letter; Letter)
  Fenk R, Hoyer B, Steidl U, Kondakci M, Graef T, Heuk R, Ruf L, Strupp C, Neumann F, Rohr UP, Hildebrandt B, Haas R, Kobbe G
• Refinement of the international prognostic scoring system (IPSS) by including LDH as an additional prognostic variable to improve risk assessment in patients with primary myelodysplastic syndromes (MDS).
  Leukemia. 2005;19(12): 2223-31 (Impact(2006)=6.146, Typ=Journal Article; Article)
  Germing U, Hildebrandt B, Pfeilstöcker M, Nösslinger T, Valent P, Fonatsch C, Lübbert M, Haase D, Steidl C, Krieger O, Stauder R, Giagounidis AA, Strupp C, Kündgen A, Mueller T, Haas R, Gattermann N, Aul C
• Gene expression profiling of Philadelphia chromosome (Ph)-negative CD34+ hematopoietic stem and progenitor cells of patients with Ph-positive CML in major molecular remission during therapy with imatinib.
  Leukemia. 2005;19(3): 458-60 (Impact(2006)=6.146, Typ=Letter; Letter)
  Neumann F, Teutsch N, Kliszewski S, Bork S, Steidl U, Brors B, Schimkus N, Roes N, Germing U, Hildebrandt B, Royer-Pokora B, Eils R, Gattermann N, Haas R, Kronenwett R
• Gains and overexpression identify DEK and E2F3 as targets of chromosome 6p gains in retinoblastoma.
  Oncogene. 2005;24(42): 6441-9 (Impact(2006)=6.582, Typ=Journal Article; Article)
  Grasemann C, Gratias S, Stephan H, Schüler A, Schramm A, Klein-Hitpass L, Rieder H, Schneider S, Kappes F, Eggert A, Lohmann DR

2004

• Twenty-four new cases of WT1 germline mutations and review of the literature: genotype/phenotype correlations for Wilms tumor development.
  Am J Med Genet A. 2004;127(3): 249-57 (Impact(2006)=2.063, Typ=Journal Article; Review)
  Royer-Pokora B, Beier M, Henzler M, Alam R, Schumacher V, Weirich A, Huff V
• Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1.
  Am J Med Genet A. 2004;124(4): 356-63 (Impact(2006)=2.063, Typ=Journal Article; Article)
  Schwabe GC, Türkmen S, Leschik G, Palanduz S, Stöver B, Goecke TO, Mundlos S
• Alu insertion polymorphisms in the Balkans and the origins of the Aromuns.
  Ann Hum Genet. 2004;68(Pt 2): 120-7 (Impact(2006)=2.727, Typ=Journal Article; Article)
  Comas D, Schmid H, Braeuer S, Flaiz C, Busquets A, Calafell F, Bertranpetit J, Scheil HG, Huckenbeck W, Efremovska L, Schmidt H
• Survival in nephroblastoma treated according to the trial and study SIOP-9/GPOH with respect to relapse and morbidity.
  Ann Oncol. 2004;15(5): 808-20 (Impact(2006)=5.179, Typ=Journal Article; Article)
  Weirich A, Ludwig R, Graf N, Abel U, Leuschner I, Vujanic GM, Mehls O, Boos J, Beck J, Royer-Pokora B, Voûte PA
• Phenotype and allele frequencies of some serum protein polymorphisms in populations of the Balkans.
  Anthropol Anz. 2004;62(4): 429-34 (Impact(2006)=0, Typ=Journal Article)
  Scheil HG, Schmidt HD, Efremovska L, Mikerezi I, Huckenbeck W
• Subtype adjusted therapy improves outcome of elderly patients with acute lymphoblastic leukemia (ALL).
  Blood. 2004;104(11): 747A-747A (Impact(2006)=10.37, Typ=Meeting Abstract)
  Hoelzer D, Goekbuget N, Beck J, Burmeister T, Giagounidis A, Glasmacher A, Pfeifer H, Rieder H, Schmid M, Thiel E, Wassmann B, Ottmann O
• Intensive chemotherapy is not recommended for patients with AML or high-risk AML aged over 60 years with complex karyotype anomalies.
  Blood. 2004;104(11): 24A-25A (Impact(2006)=10.37, Typ=Meeting Abstract)
  Knipp S, Hildebrandt B, Giagounidis AAN, Kobbe G, Haas R, Aul C, Gattermann N, Germing U
• Treatment of myelodysplastic syndromes with valproic acid alone or in combination with all-trans retinoic acid.
  Blood. 2004;104(5): 1266-9 (Impact(2006)=10.37, Typ=Journal Article; Clinical Trial; Article)
  Kuendgen A, Strupp C, Aivado M, Bernhardt A, Hildebrandt B, Haas R, Germing U, Gattermann N
• Phase 2 trial of the histone deacetylase inhibitor valproic acid as a monotherapy or in combination with all-trans retinoic acid in 24 patients with acute myeloid leukemia.
  Blood. 2004;104(11): 501A-501A (Impact(2006)=10.37, Typ=Meeting Abstract)
  Kuendgen A, Strupp C, Hildebrandt B, Knipp S, Junge B, Haas R, Germing U, Gattermann N
• Gene expression profiling of Philadelphia chromosome(Ph) negative CD34+hematopoietic stem and progenitor cells of patients with Ph positive CML in complete molecular remission during therapy with imatinib.
  Blood. 2004;104(11): 807A-808A (Impact(2006)=10.37, Typ=Meeting Abstract)
  Neumann F, Teutsch N, Kliszewski S, Bork S, Brors B, Schimkus N, Roes N, Steidl U, Germing U, Hildebrandt B, Royer-Pokora B, Eils R, Gattermann N, Haas R, Kronenwett R
• The influence of age and gender on the prognostic impact of karytoypic subgroups in myelodysplastic syndromes - a multicenter analysis.
  Blood. 2004;104(11): 406A-406A (Impact(2006)=10.37, Typ=Meeting Abstract)
  Noesslinger T, Germing U, Hildebrandt B, Strupp C, Aivado M, Haase D, Schanz J, Wimazal F, Sperr W, Peter V, Michael L, Krieger O, Gattermann N, Giagounidis A, Tuchler H, Haas R, Aul C, Pfeilstocker M
• Sequential cytogenetic analysis of 322 patients with myelodysplastic syndromes. Delineation of genetic evolution and clinical implications.
  Blood. 2004;104(11): 651A-651A (Impact(2006)=10.37, Typ=Meeting Abstract)
  Steidl C, Schabla R, Germing U, Hildebrandt B, Noesslinger T, Pfeilstocker M, Haas P, Lubbert M, Truemper LH, Haase D
• Early prediction of response in patients with relapsed or refractory Philadelphia chromosome-positive acute lymphoblastic leukemia (Ph+ALL) treated with imatinib.
  Blood. 2004;103(4): 1495-8 (Impact(2006)=10.37, Typ=Journal Article; Clinical Trial; Multicenter Study; Clinical Trial, Phase II; Article)
  Wassmann B, Pfeifer H, Scheuring UJ, Binckebanck A, Gökbuget N, Atta J, Brück P, Rieder H, Schoch C, Leimer L, Schwerdtfeger R, Ehninger G, Lipp T, Perz J, Stelljes M, Gschaidmeier H, Hoelzer D, Ottmann OG
• Evidence for the association of the 4Q32-34 locus and pancreatic cancer in European FPC families
  Br J Cancer. 2004;91 Suppl.: S32-S32 (Impact(2006)=4.459, Typ=Meeting Abstract)
  Earl J, Yan L, McFaul C, Kress R, Leslie J, Rieder H
• Genetic anticipation in familial pancreatic cancer
  Br J Cancer. 2004;91 Suppl.: S40-S40 (Impact(2006)=4.459, Typ=Meeting Abstract)
  McFaul CD, Kress R, Bartsch DK, Rieder H, Si