Stéphane Dubois

Mutations of the Forkhead/Winged-Helix Gene, FKHL7, in Patients with Axenfeld-Rieger Anomaly

Alan J. Mears, Tim Jordan, Farideh Mirzayans et al. · The American Journal of Human Genetics · 1998 · 326 citations · Full text

Somatic Variant, Mendelian Disorder, Genetic Disorder +8

Exome sequencing identifies mutations in the gene <i>TTC7A</i> in French-Canadian cases with hereditary multiple intestinal atresia

Mark E. Samuels, Jacek Majewski, Najmeh Alirezaie et al. · Journal of Medical Genetics · 2013 · 135 citations · Full text

The CYP2B2 Phenobarbital Response Unit Contains an Accessory Factor Element and a Putative Glucocorticoid Response Element Essential for Conferring Maximal Phenobarbital Responsiveness

Catherine M. Stoltz, Marie-Hélène Vachon, Eric Trottier et al. · Journal of Biological Chemistry · 1998 · 95 citations · Full text

A genome-wide scan maps a novel juvenile-onset primary open angle glaucoma locus to chromosome 5q.

Chi Pui Pang, Baojian Fan, Oscar Canlas et al. · PubMed · 2006 · 80 citations

Glaucoma-associated WDR36 variants encode functional defects in a yeast model system

Tim Footz, Jill L. Johnson, Stéphane Dubois et al. · Human Molecular Genetics · 2009 · 45 citations · Full text

Genetics, Molecular Biology, Functional Defects +18