Brigitte Royer‐Pokora

Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region

Carl C.T. Ton, Harri Hirvonen, Hiroshi Miwa et al. · Cell · 1991 · 870 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

Frequency and Spectrum of Cancers in the Peutz-Jeghers Syndrome

Nicholas Hearle, Valerié Schumacher, Fred H. Menko et al. · Clinical Cancer Research · 2006 · 853 citations

Medicine, Genetics, Oncology +14

Cloning the gene for an inherited human disorder—chronic granulomatous disease—on the basis of its chromosomal location

Brigitte Royer‐Pokora, Louis M. Kunkel, Anthony P. Monaco et al. · Nature · 1986 · 836 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Human laminin β2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities

Martin Zenker, Thomas Aigner, Olaf Wendler et al. · Human Molecular Genetics · 2004 · 499 citations

Medicine, Genetics, Molecular Genetics +17

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

Bryony A. Thompson, Amanda B. Spurdle, John‐Paul Plazzer et al. · Nature Genetics · 2013 · 476 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15