Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract

Carrier Testing for Severe Childhood Recessive Diseases by Next-Generation Sequencing

Callum J. Bell, Darrell L. Dinwiddie, Neil Miller et al. · Science Translational Medicine · 2011 · 712 citations

Life Sciences, Genetics, Molecular Genetics +16

A human homologue of the Drosophila eyes absent gene underlies Branchio-Oto-Renal (BOR) syndrome and identifies a novel gene family

Sonia Abdelhak, Vasiliki Kalatzis, Roland Heilig et al. · Nature Genetics · 1997 · 679 citations

Medicine, Genetics, Molecular Genetics +14

GATA3 haplo-insufficiency causes human HDR syndrome

Hilde Van Esch, Peter Groenen, M. Andrew Nesbit et al. · Nature · 2000 · 654 citations

Life Sciences, Genetics, Molecular Genetics +4

Mutations of the <i>UMOD</i> gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy

Thomas C. Hart, Michael C. Gorry, Patricia Hart et al. · Journal of Medical Genetics · 2002 · 482 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome

J. Kohlhase, A. Wischermann, Herbert Reichenbach et al. · Nature Genetics · 1998 · 456 citations

Life Sciences, Genetics, Molecular Genetics +7