Véronique Pingault

SOX10 mutations in patients with Waardenburg-Hirschsprung disease

Véronique Pingault, Nadège Bondurand, Kirsten Kuhlbrodt et al. · Nature Genetics · 1998 · 817 citations

Mendelian Disorder, Genetic Disorder, Medicine +7

Mutation of the Sry-related <i>Sox10</i> gene in <i>Dominant megacolon</i> , a mouse model for human Hirschsprung disease

Beate Herbarth, Véronique Pingault, Nadège Bondurand et al. · Proceedings of the National Academy of Sciences · 1998 · 356 citations · Full text

Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4

Nadège Bondurand, Florence Dastot‐Le Moal, Laure Stanchina et al. · The American Journal of Human Genetics · 2007 · 256 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +4

Loss-of-Function Mutations in SOX10 Cause Kallmann Syndrome with Deafness

Véronique Pingault, Virginie Bodereau, Viviane Baral et al. · The American Journal of Human Genetics · 2013 · 195 citations · Full text

Neurological Phenotype in Waardenburg Syndrome Type 4 Correlates with Novel SOX10 Truncating Mutations and Expression in Developing Brain

Renaud Touraine, Tania Attié‐Bitach, E. Manceau et al. · The American Journal of Human Genetics · 2000 · 166 citations · Full text

Neurodegenerative Diseases, Developmental Biology, Mendelian Disorder +10