Originalarbeiten

2026

• Daschkey S, Dietzel-Dahmen J, Drechsler M, Sivalingam S, Schaper J, Naujoks M, Welters A, Redler S, Wieczorek D. (2026) Genetic mosaicism – importance of clinical features to improve diagnosis. Journal of Rare Diseases; 2026 February 23; 5(26). https://doi.org/10.1007/s44162-026-00164-8.
• Klett MK, Balkan I, Lakes J, Albers P, Hiltrop K, Rother J, Boschheidgen M, Antoch G, Redler S, Wieczorek D, Fehm T, Jaeger BAS, Dinger U, Karger A. (2026) Motivations and experiences of high-risk men in risk-adapted prostate cancer early detection: A qualitative study. Patient Educ Couns. 2026 Mar 21;149:109593. doi: 10.1016/j.pec.2026.109593. Epub ahead of print. PMID: 41932171.
• Lakes J, Boschheidgen M, Antoch G, Klett MK, Karger A, Roth R, Redler S, Pai MG, Wieczorek D, Jäger B, Fehm TN, Niegisch G, Rau TT, Albers P. (2026) Genetic Testing and Imaging in Men with Familial History or Genetic Predisposition of Prostate Cancer-Introducing the Prospective "ProFam-Risk" Study. Eur Urol Open Sci. 2026 Jan 7;84:13-21. doi: 10.1016/j.euros.2025.12.018. PMID: 41561489; PMCID: PMC12814690.
• Leitão E, Santini A, Cogne B, Essid M, Athanasiadou M, LaFlamme CW, Marijon P, Bernard V, Jousselin K, Chatron N, Barcia G, Keren B, Mignot C, Charles P, Besnard T, Paluch R, de Sainte Agathe JM, Almanza Fuerte EP, Sengupta S, Milh M, Ramond F, Allan T, An I, Araujo C, Arpin S, Austin-Tse C, Auvin S, Baer S, Bahi-Buisson N, Bak M, Barth M, Baulac S, Bednarek-Weirauch N, Begemann M, Bennett MF, Bensabath U, Bézieau S, Bhouri R, Biehler M, Hammer TB, Bogoin J, Bonanno E, Boussion S, Bris C, Brosseau-Beauvir A, Bruel AL, Briand-Suleau A, Buratti J, Celse T, Chambon P, Chemaly N, Chesneau B, Colin E, Colmard M, Colson C, Conrad S, Courtin T, Creveaux I, Cullier AC, Dang LT, de Saint Martin A, de Vanssay de Blavous Legendre C, Demeer B, Denommé-Pichon AS, Diekhoff P, DiTroia S, Doco-Fenzy M, Dubourg C, Dubucs C, Ducreux S, Dufour L, Duquet R, Durand B, El Chehadeh S, Elbracht M, Faivre L, Faoucher M, Faudet A, Forlani S, Fradin M, Gaignard P, Ganne B, Garde A, Géraud J, Gill D, Goldenberg A, Grabli D, Grisel C, Gueden S, Gueguen P, Guerrot AM, Guichet A, Haack TB, Härting N, Häusler MG, Heide S, Herget T, Héron B, Héron D, Herwig J, Heulin M, Holling T, Houdayer C, Isidor B, Jacquette A, Januel L, Jean-Marçais N, Kaiser FJ, Kaya S, King C, Konyukh M, Kraft F, Krause J, Kirstetter R, Kuechler A, Kurth I, Kutsche K, Labalme A, Laloy JS, Laugel V, Le Bricquir F, Lèbre AS, Lebrun M, Leguern E, Levy J, Lieffering N, Lyonnet S, Lüthy K, Macdonald SMW, Mansour-Hendili L, Maraval J, Marquardt I, Mattausch C, Mercier S, Messaoud O, Morel G, Mortreux J, Munnich A, Nabbout R, Nambot S, Navarro V, Neale A, Nguyen L, Nizon M, Nowak F, O'Leary MC, Odent S, Ojeda NM, Olin V, Olivieri S, Õunap K, Pais LS, Panagiotakaki E, Patat O, Perrin-Sabourin L, Petit F, Philippe C, Piton A, Planes M, Poirsier C, Pouzet A, Prouteau C, Quéméner-Redon S, Renaud M, Richard AC, Rio M, Rivier C, Robin-Renaldo F, Rollier P, Rossi M, Roubertie A, Ruault V, Rupin-Mas M, Saugier-Veber P, Saunier A, Saneto R, Sarrazin E, Sarret C, Schaefer E, Schluth-Bolard C, Schneider A, Schumann I, Seplyarskiy VB, Spranger S, Smol T, Sturm M, Sunyaev SR, Sperelakis-Beedham B, Stenton SL, Stock F, Tharreau M, Torun D, Toulouse J, Thiyagarajah H, Valence S, Valleix S, Van-Gils J, Villard L, Ville D, Villeneuve N, Vitobello A, Waernessyckle A, Wagner J, Weber Y, Wieczorek D, Witkowski T, Yadavilli M, Yammine T, Zaafrane-Khachnaoui K, Zaki MS, Ziegler A, Bramswig NC, Lermine A, Nicolas G, Gleeson JG, Sadleir LG, Hildebrand MS, Scheffer IE, Whiffin N, O'Donnell-Luria A, Mefford HC, Blanc P, Thevenon J, Charbonnier C, Charenton C, Depienne C, Lesca G, Nava C. (2026) Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies. Nat Genet. 2026 Mar 30. doi: 10.1038/s41588-026-02547-5. Epub ahead of print. PMID: 41912934.

2025

• Bögershausen N, Cavdarli B, Nagai T, Milev MP, Wolff A, Mehranfar M, Schmidt J, Choudhary D, Gutiérrez-Gutiérrez Ó, Cyganek L, Saint-Dic D, Zibat A, Köhrer K, Wollenweber TE, Wieczorek D, Altmüller J, Borodina T, Kaçar D, Haliloğlu G, Li Y, Thiel C, Sacher M, Knapik EW, Yigit G, Wollnik B. (2025) SEC24C deficiency causes trafficking and glycosylation abnormalities in an epileptic encephalopathy with cataracts and dyserythropoeisis. JCI Insight. 2025 Mar 25:e173484. doi: 10.1172/jci.insight.173484. Epub ahead of print. PMID: 40131364.
• Castaño-Díez S, López-Guerra M, Zugasti I, Calvo X, Schulz FI, Avendaño A, Mora E, Falantes J, Azaceta G, Ibáñez M, Chen T, Notario C, Amer N, Palomo L, Pomares H, Vila J, Bernal Del Castillo T, Jiménez-Vicente C, Esteban D, Guijarro F, Álamo J, Cortés-Bullich A, Torrecillas-Mayayo V, Triguero A, Mont-de Torres L, Carcelero E, Cardús A, Germing U, Betz B, Rozman M, Arenillas L, Zamora L, Díez-Campelo M, Xicoy B, Esteve J, Díaz-Beyá M. (2025) AML typical mutations (CEBPA, FLT3, NPM1) identify a high-risk chronic myelomonocytic leukemia independent of CPSS molecular. Blood Adv. 2025 Jan 14;9(1):39-53. doi: 10.1182/bloodadvances.2024013648. PMID: 39388660.
• Chatterjee A, Hüneburg R, Yang Q, Morrison S, Bettzüge A, Marwitz T, Aretz S, Spier I, Ripperger T, Redler S, Kachanov M, Volk AE, Vangala DB, Daum S, Holinski-Feder E, Steinke-Lange V, Bahlke K, Strassburg CP, MejiaPerez LK, O'Malley MM, LaGuardia L, Liska D, Macaron C, Sommovilla J, Burke CA, Nattermann J. (2025) Colonoscopy findings in CDH1 carriers from a multicenter international study. Fam Cancer. 2025 May 5;24(2):44. doi: 10.1007/s10689-025-00466-8. PMID: 40323501; PMCID: PMC12052908.
• Cuinat S, Chatron N, Petit F, Brunelle P, Dincuff E, Aubert Mucca M, Bieth E, Schmetz A, Rieder H, Wollnik B, Kaulfuß S, Yigit G, McKeown C, Savage T, Mulligan MR, Bicknell LS, Corsten-Janssen N, Edery P, Lesca G, de Villartay JP, Putoux A. (2025) XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches. Eur J Hum Genet. 2025 Jul;33(7):842-851. doi: 10.1038/s41431-025-01821-0. Epub 2025 Mar 20. PMID: 40114033; PMCID: PMC12229645.
• David FS, Frank J, Stein F, Meinert S, Zillich L, Sirignano L, Streit F, Beins EC, Sindermann L, Usemann P, Goltermann J, Leehr EJ, Sivalingam S, Herms S, Hoffmann P, Hahn T, Witt SH, Alexander N, Kircher T, Dannlowski U, Rietschel M, Nöthen MM, Forstner AJ. (2025) Blood-based DNA methylation profiles in major depressive disorder, bipolar disorder, and schizophrenia spectrum disorders. Compr Psychiatry. 2025 Aug 20;143:152629. doi: 10.1016/j.comppsych.2025.152629. Epub ahead of print. PMID: 40857809.
• Efthymiou S, Leo CP, Deng C, Lin S-J, Maroofian R, Lin R, Karagoz I, Zhang K, Kaiyrzhanov R, Scardamaglia A, Owrang D, Turchetti V, Jahnke F, Huang K, Petree C, Derrick AV, Rees MI, Alvi JR, Sultan T, Li C, Jacquemont M-L, Tran-Mau-Them F, Valenzuela-Palafoll M, Sidlow R, Yoon G, Morrow MM, Carere DA, O'Connor M, Fleischer J, Gerkes EH, Phornphutkul C, Isidor B, Rivier-Ringenbach C, Philippe C, Kurul SH, Soydemir D, Kara B, Sunnetci-Akkoyunlu D, Bothe V, Platzer K, Wieczorek D, Koch-Hogrebe M, Rahner N, Thuresson A-C, Matsson H, Frykholm C, Bozdoğan ST, Bisgin A, Chatron N, Lesca G, Cabet S, Tümer Z, Hjortshøj TD, Rønde G, Marquardt T, Reunert J, Afzal E, Zamani M, Azizimalamiri R, Galehdari H, Nourbakhsh P, Chamanrou N, Chung S-K, Suri M, Benke PJ, Zaki MS, Gleeson JG, Calame DG, Pehlivan D, Yilmaz HI, Gezdirici A, Rad A, Abumansour IS, Oprea G, Bereketoğlu MB, Banneau G, Julia S, Zeighami J, Ashoori S, Shariati G, Sedaghat A, Sabri A, Hamid M, Parvas S, Tajudin TA, Abdullah U, Baig SM, Chung WK, Glazunova OO, Sabine S, Cheema HA, Zifarelli G, Bauer P, Sidpra J, Mankad K, Vona B, Fry AE, Varshney GK, Houlden H, Fu D (2025) Biallelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder. The American Journal of Human Genetics, 2025, ISSN 0002-9297, https://doi.org/10.1016/j.ajhg.2025.03.015.
• Elbracht M, Meyer R, Kricheldorf K, Gezer D, Eggermann T, Betz B, Kurth I, Teichmann LL, Brümmendorf TH, Germing U, Isfort S, Koschmieder S. (2025) 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. Erratum in: Blood Adv. 2022 Dec 27;6(24):6208. doi: 10.1182/bloodadvances.2021006406. PMID: 34477817; PMCID: PMC8525218.
• Friedrich A, Schmitz MT, Gossmann Y, Redler S, Blaumeiser B, Lutz G, Blume-Peytavi U, Nöthen MM, Betz RC, Basmanav FB. (2025) Comorbid Bronchial Asthma, Atopic Dermatitis and Hashimoto's Thyroiditis Are Risk Factors for Early-Onset, Severe and Prolonged Alopecia Areata. Allergy. 2025 Jan 8. doi: 10.1111/all.16468. Epub ahead of print. PMID: 39775704.
• Ghodrat R, Ramachandran H, Hildebrandt B, Binder S, Rossi A, Reichert AS. (2025) CRISPR/Cpf1-mediated editing of PINK1 in induced pluripotent stem cells. Stem Cell Res. 2025 Dec 12;90:103887. doi: 10.1016/j.scr.2025.103887. Epub ahead of print. PMID: 41406514.
• Grüner TF, Ramachandran H, Thomas AC, Hildebrandt B, Gläsker S, Dobner J, Rossi A. (2025) CRISPR/Cas9-mediated editing of VHL in induced pluripotent stem cells: A model for early cell fate in von Hippel-Lindau syndrome. Stem Cell Res. 2025 Jun 2;87:103748. doi: 10.1016/j.scr.2025.103748. Epub ahead of print. PMID: 40479877.
• Hashimoto AS, Yu J, Williams C, Gaudenz K, Varshosaz P, Zhao R, Pilli N, Liu T, Russell J, Tooze RS, Twigg SRF, Banka S, Sweeney E, McGowan SJ, Knight SJL, Taylor JC, Froukh TJ, Palafoll MIV, Martínez-Gil N, Costa-Roger M, Villarreal-Molina MT, Lieberman Hernandez E, Abou Jamra R, Gattermann F, Koch-Hogrebe M, Wieczorek D, Trainor PA, Moise AR, Wilkie AOM, Kane MA. (2025) Identification and characterization of short-chain dehydrogenase/reductase 3 (DHRS3) deficiency, a retinoic acid embryopathy of humans. Genet Med Open. 2025 Mar 29;3:103427. doi: 10.1016/j.gimo.2025.103427. PMID: 40519748; PMCID: PMC12167057.
• Hüneburg R, Weber K, Aretz S, Steinke-Lange V, Holinski-Feder E, Kloor M, Redler S, Vangala DB, Schröck E, Block A, Ripperger T, van Beekum K, Link A, Schroeder C, Engel C, Nattermann J; German Consortium for Familial Intestinal Cancer. (2025) Identifying Risk Factors for Metachronous Colorectal Cancer in Lynch Syndrome. Clin Gastroenterol Hepatol. 2025 Jul 30:S1542-3565(25)00638-X. doi: 10.1016/j.cgh.2025.06.040. Epub ahead of print. PMID: 40749813.
• Klett MK, Albers P, Lakes J, Niegisch G, Antoch G, Boschheidgen M, Dinger U, Fehm T, Jäger B, Redler S, Wieczorek D, Schäfer R, Carl G, Karger A. (2025) Psychosocial outcomes of risk-adapted prevention for prostate cancer predisposition: study protocol for a longitudinal observational mixed-methods study. BMJ Open 2025;15:e103679. doi:10.1136/bmjopen-2025-103679.
• Leitão E, Santini A, Cogne B, Essid M, Athanasiadou M, LaFlamme CW, Marijon P, Bernard V, Chatron N, Barcia G, Keren B, Mignot C, Charles P, Besnard T, de Sainte Agathe JM, Fuerte EPA, Sengupta S, Milh M, Ramond F, Allan T, An I, Araujo C, Arpin S, Austin-Tse C, Auvin S, Baer S, Bahi-Buisson N, Bak M, Barth M, Baulac S, Weirauch NB, Begemann M, Bennett MF, Bensabath U, Bézieau S, Bhouri R, Biehler M, Hammer TB, Bogoin J, Bonanno E, Boussion S, Bramswig NC, Bris C, Brosseau-Beauvir A, Bruel AL, Buratti J, Chambon P, Chemaly N, Chesneau B, Colin E, Colmard M, Conrad S, Courtin T, Dang LT, de Saint Martin A, de Vanssay de Blavous Legendre C, Denommé-Pichon AS, DiTroia S, Doco-Fenzy M, Dubourg C, Dubucs C, Ducreux S, Dufour L, Duquet R, Durand B, Chehadeh SE, Elbracht M, Faivre L, Faoucher M, Faudet A, Forlani S, Fradin M, Gaignard P, Ganne B, Garde A, Géraud J, Gill D, Goldenberg A, Grabli D, Grisel C, Gueden S, Gueguen P, Guerrot AM, Guichet A, Härting N, Häusler MG, Heide S, Héron B, Héron D, Heulin M, Houdayer C, Isidor B, Jacquette A, Januel L, Jean-Marçais N, Jousselin K, Kaiser FJ, Kaya S, King C, Konyukh M, Kraft F, Krause J, Kirstetter R, Kuechler A, Kurth I, Labalme A, Laloy JS, Laugel V, Bricquir FL, Lèbre AS, Lebrun M, Leguern E, Levy J, Lieffering N, Lyonnet S, Lüthy K, Macdonald S, Mansour-Hendili L, Maraval J, Mattausch C, Messaoud O, Morel G, Mortreux J, Munnich A, Nabbout R, Nambot S, Navarro V, Neale A, Nguyen L, Nizon M, Nowak F, O'Leary MC, Odent S, Ojeda NM, Olin V, Õunap K, Pais LS, Paluch R, Panagiotakaki E, Patat O, Perrin-Sabourin L, Petit F, Philippe C, Piton A, Planes M, Poirsier C, Pouzet A, Prouteau C, Quéméner-Redon S, Renaud M, Richard AC, Rio M, Rivier C, Robin-Renaldo F, Rollier P, Rossi M, Roubertie A, Rupin M, Saugier-Veber P, Saneto R, Sarrazin E, Schaefer E, Schluth-Bolard C, Schneider A, Schumann I, Seplyarskiy V, Smol T, Sunyaev S, Sperelakis-Beedham B, Stenton SL, Stock F, Tharreau M, Torun D, Toulouse J, Thiyagarajah H, Valence S, Valleix S, Villard L, Ville D, Villeneuve N, Vitobello A, Waernessyckle A, Weber Y, Wieczorek D, Witkowski T, Yadavilli M, Yammine T, Zaafrane-Khachnaoui K, Zaki MS, Ziegler A, Lermine A, Nicolas G, Gleeson JG, Sadleir LG, Hildebrand MS, Scheffer IE, Whiffin N, O'Donnell-Luria A, Mefford HC, Blanc P, Thevenon J, Charbonnier C, Charenton C, Depienne C, Lesca G, Nava C. (2025) Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies. medRxiv [Preprint]. 2025 Sep 4:2025.09.02.25334923. doi: 10.1101/2025.09.02.25334923. PMID: 40950445; PMCID: PMC12424890.
• Lakes J, Boschheidgen M, Antoch G, Klett M, Karger A, Roth R, Redler S, Wieczorek D, Niegisch G, Albers P. (2025). Familiäres und genetisches Risiko beim Prostatakarzinom – aktueller Stand. Familial and genetic risk in prostate cancer—current state of knowledge. Best Practice Onkologie. 20. 10.1007/s11654-025-00667-8.
• Lessel I, Baresic A, Chinn IK, May J, Goenka A, Chandler KE, Posey JE, Afenjar A, Averdunk L, Bedeschi MF, Besnard T, Brager R, Brick L, Brugger M, Brunet T, Byrne S, Calle-Martín O, Capra V, Cardenas P, Chappé C, Chong HJ, Cogne B, Conboy E, Cope H, Courtin T, Deb W, Dilena R, Dubourg C, Elgizouli M, Fernandes E, Fitzgerald KK, Gangi S, George-Abraham JK, Gucsavas-Calikoglu M, Haack TB, Hadonou M, Hanker B, Hüning I, Iascone M, Isidor B, Järvelä I, Jin JJ, Jorge AAL, Josifova D, Kalinauskiene R, Kamsteeg EJ, Keren B, Kessler E, Kölbel H, Kozenko M, Kubisch C, Kuechler A, Leal SM, Leppälä J, Luu SM, Lyon GJ, Madan-Khetarpal S, Mancardi M, Marchi E, Mehta L, Menendez B, Morel CF, Harasink SM, Nevay DL, Nigro V, Odent S, Oegema R, Pappas J, Pastore MT, Perilla-Young Y, Platzer K, Powell-Hamilton N, Rabin R, Rekab A, Rezende RC, Robert L, Romano F, Scala M, Poths K, Schrauwen I, Sebastian J, Short J, Sidlow R, Sullivan J, Szakszon K, Tan QKG; Undiagnosed Diseases Network; Wagner M, Wieczorek D, Yuan B, Maeding N, Strunk D, Begtrup A, Banka S, Lupski JR, Tolosa E, Lessel D. (2025) DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders. Am J Hum Genet. 2025 Jan 3:S0002-9297(24)00454-3. doi: 10.1016/j.ajhg.2024.12.012. Epub ahead of print. PMID: 39798569.
• Makowska A, Kontny U, van Helden J, Hildebrandt B, Schüler HM, Weiskirchen R. (2025) Genetic Characterization of the Immortalized Human Nasopharyngeal Carcinoma Cell Line NPC/HK1. Cancer Med. 2025 Feb;14(3):e70422. doi: 10.1002/cam4.70422. PMID: 39905741; PMCID: PMC11794828.
• Masson A, Paccaud J, Orefice M, Colin E, Mäkitie O, Cormier-Daire V, Relator R, Ghosh S, Strub JM, Schaeffer-Reiss C, Marcelis C, Koolen DA, Pfundt R, de Boer E, Vissers LE, Gardeitchik T, Aarts LA, Rinne T, Terhal PA, Verbeek NE, Zuurbier LC, Plomp AS, Wessels MW, de Man SA, Bouman A, Bird LM, Saadeh-Haddad R, Guillen Sacoto MJ, Person R, Gooch C, Hurst AC, Thompson ML, Hiatt SM, Littlejohn RO, Roeder ER, Mori M, Hickey S, Hunter JM, Lee K, Osman K, Halloun R, Bachmann-Gagescu R, Rauch A, Wieczorek D, Platzer K, Luppe J, Duplomb-Jego L, El It F, Duffourd Y, Tran Mau-Them F, Huber C, Gordon CT, Taylan F, Mäkitie RE, Costantini A, Valta H, Robertson S, Poke G, Francoise M, Ciolfi A, Tartaglia M, Ekhilevitch N, Zaid R, Levy MA, Kerkhof J, McConkey H, Delanne J, Chevarin M, Vautrot V, Bourgeois V, Nguyen S, Marle N, Callier P, Safraou H, Morgan A, Amor DJ, Hildebrand M, Coman D, Aubert Mucca M, Thevenon J, Laffargue F, Bilan F, Pebrel-Richard C, Yoon G, Axford MM, Pérez-Jurado LA, Sevilla-Porras M, Black D, Philippe C, Sadikovic B, Thauvin-Robinet C, Olivier-Faivre L, Ori M, Thomas Q, Vitobello A. (2025) PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia. J Clin Invest. 2025 Sep 18:e182100