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 · 886 citations

Transcriptional Regulation, Systems Biology, Genetic Disorder +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 · 635 citations · Full text

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 · 392 citations

Ocular Disease, Developmental Biology, Ophthalmology +6

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 · 358 citations · Full text

Developmental Anomaly, Developmental Biology, Genetic Disorder +8

CNGA3 Mutations in Hereditary Cone Photoreceptor Disorders

Bernd Wissinger, Daphne Gamer, Herbert Jägle et al. · The American Journal of Human Genetics · 2001 · 321 citations · Full text

Photoreceptor Cell, Ophthalmology, Genetic Disorder +5