Royer-Pokora B, Kunkel LM, Monaco AP, Goff SC, Newburger PE, Baehner RL, Cole FS, Curnutte JT, Orkin SH: Cloning the gene for an inherited human disorder -chronic granulomatous disease- on the basis of its chromosomal, location. Nature 1986; 322:32-38

Royer-Pokora B , Loos U, Ludwig W-D: TTG-2, a new gene encoding a cysteine rich protein with the LIM motif, is overexpressed in acute T-cell leukaemia with the t (11;14)(p13;q11). Oncogene 1991; 6:1887-1893

Ton CCT, Hirvonen H, Miwa H, Weil MM, Monagan P, Jordan T, Van Heyningen V, Hastie ND, Meijers-Heijboer H, Drechsler M, Royer-Pokora B, Collins F, Swaroop A, Strong L, Saunders GF. Positional cloning and characterization of a paired box- and homeobox- containing gene from the aniridia region. Cell 1991; 67:1059-1074

Schumacher V, Schneider S, Figge, A, Wildhardt G, Harms D, Schmidt W, Weirich A, Ludwig R, Royer-Pokora B: Correlation of germline mutations and two hit inacticvation of the WT1 gene with Wilms tumors of stromal-predominant histology. Proc. Natl. Acad. Sci. USA 1997; 94:3972-3977

Schumacher V, Schärer K, Wühl E, Altrogge H, Bonzel KE, Guschmann M, Neuhaus T, Pollastro RM, Tondera AM, Kuwertz-Bröking E, Bulla M, Mundel P, Waldherr R, Weirich A, Royer-Pokora B: Clinical and molecular spectrum of congenital and infantile nephrotic syndrome associated with WT1 missense mutations. Kidney International 1998; 53:1594-1600

Dong, J, Chang-Claude J, Wu Y, Schumacher V, Debatin I, Tonin P, Royer-Pokora B: A high proportion of recurrent and novel mutations in the BRCA1 gene in German breast/ovarian cancer families with clustering of mutations in the 3´ third of the gene. Human Genet. 1998; 103:154-161

Dadze S, Wieland C, Jakubiczka S, Funke K, Schröder E, Royer-Pokora B, Willers R, Wieacker PF: The size od the CAG repeat in exon 1 of the androgen receptor gene shows no significant relationship to impaired spermatogensis in an infertile caucasoide sample of German orgin. Molecular Human Reproduction 2000; 6:207-214

Schumacher V, Schuhen S, Sonner S, Weirich A, Leuschner I, Harms D, Licht J, Roberts S, Royer-Pokora B: Two molecular subgroups of Wilms tumors with or without WT1 mutations. Clinc. Cancer Res. 2003; 9:2005-2014

Royer-Pokora B, Hildebrandt B, Redmann A, Herold C, Kronenwett R, Haas R, Drechsler M, Wieland C: Simultaneous occurrence of a t(9;22)(Ph) with a t(2;11) in a patient with CML and emergence of a new clone with the t(2;11) alone after imatinib mesylate treatment. Leukemia 2003; 17:807-810

Royer-Pokora B, Beier M, Henzler M, Alam R, Schumacher V, Weirich A, Huff V: Twenty-four new cases of WT1 germline mutations and review of the literature: Genotype/phenotype correlations for Wilms tumor development. Am. J. Med. Genet. 2004; 127A:249-257

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Betz, B., Goecke, T.O., Bodden-Heidrich, R. Beckmann, M.W., Niederacher, D. und German Consortium for Hereditary Breast and Ovarian Cancer: Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population. Int. J. Cancer 97 (2002) 472-480

Schwabe GC, Turkmen S, Leschik G, Palanduz S, Stover B, Goecke TO, Mundlos S. Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1. Am J Med Genet A. 2004 Feb 1;124(4):356-63

Schumacher V, Vogel T, Leube B, Driemel C, Goecke T, Moslein G, Royer-Pokora B. STK11 genotyping and cancer risk in Peutz-Jeghers syndrome. J Med Genet. 2005 May;42(5):428-35

Mangold E, Pagenstecher C, Friedl W, Mathiak M, Buettner R, Engel C, Loeffler M, Holinski-Feder E, Muller-Koch Y, Keller G, Schackert HK, Kruger S, Goecke T, Moeslein G, Kloor M, Gebert J, Kunstmann E, Schulmann K, Ruschoff J, Propping P. 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