Pierre Bitoun

Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome

Elena V. Semina, Rebecca S. Reiter, Nancy J. Leysens et al. · Nature Genetics · 1996 · 890 citations

Life Sciences, Genetics, Molecular Genetics +7

Prelingual Deafness: High Prevalence of a 30delG Mutation in the Connexin 26 Gene

Françoise Denoyelle, Dominique Weil, Marion A. Maw et al. · Human Molecular Genetics · 1997 · 636 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD

Elena V. Semina, Robert E. Ferrell, Helen A. Mintz-Hittner et al. · Nature Genetics · 1998 · 393 citations

Medicine, Genetics, Molecular Genetics +12

Mutations in STRA6 Cause a Broad Spectrum of Malformations Including Anophthalmia, Congenital Heart Defects, Diaphragmatic Hernia, Alveolar Capillary Dysplasia, Lung Hypoplasia, and Mental Retardation

Francesca Pasutto, Heinrich Sticht, G. Hammersen et al. · The American Journal of Human Genetics · 2007 · 359 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

CNGA3 Mutations in Hereditary Cone Photoreceptor Disorders

Bernd Wissinger, Daphne Gamer, Herbert Jägle et al. · The American Journal of Human Genetics · 2001 · 326 citations · Full text

Medicine, Genetics, Molecular Genetics +14