Christine Petit

Defective myosin VIIA gene responsible for Usher syndrome type IB

Dominique Well, Stéphane Blanchard, Josseline Kaplan et al. · Nature · 1995 · 1.1K citations

Life Sciences, Genetics, Molecular Genetics +7

A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome

Nathalie Neyroud, Frédérique Tesson, Isabelle Denjoy et al. · Nature Genetics · 1997 · 883 citations

Life Sciences, Genetics, Molecular Genetics +16

KCNQ4, a Novel Potassium Channel Expressed in Sensory Outer Hair Cells, Is Mutated in Dominant Deafness

Christian Kubisch, Björn C. Schroeder, Thomas Friedrich et al. · Cell · 1999 · 868 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome

Catherine Dodé, Jacqueline Levilliers, Jean‐Michel Dupont et al. · Nature Genetics · 2003 · 830 citations

Life Sciences, Genetics, Molecular Genetics +9

Otoferlin, Defective in a Human Deafness Form, Is Essential for Exocytosis at the Auditory Ribbon Synapse

Isabelle Roux, Saaïd Safieddine, Régis Nouvian et al. · Cell · 2006 · 742 citations · Full text

Medicine, Neurobiology, Neuroscience +13