Véronique Pingault
Hôpital Necker-Enfants Malades(FR)Assistance Publique – Hôpitaux de Paris(FR)
Publications by Year
Research Areas
Congenital gastrointestinal and neural anomalies, RNA regulation and disease, Cancer-related molecular mechanisms research, melanin and skin pigmentation, RNA Research and Splicing
Most-Cited Works
- → SOX10 mutations in patients with Waardenburg-Hirschsprung disease(1998)818 cited
- → Review and update of mutations causing Waardenburg syndrome(2010)601 cited
- → Mutation of the Sry-related Sox10 gene in Dominant megacolon , a mouse model for human Hirschsprung disease(1998)357 cited
- → Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4(2007)258 cited
- → Loss-of-Function Mutations in SOX10 Cause Kallmann Syndrome with Deafness(2013)197 cited
- → Neurological Phenotype in Waardenburg Syndrome Type 4 Correlates with Novel SOX10 Truncating Mutations and Expression in Developing Brain(2000)168 cited
- → Functional Analysis of Sox10 Mutations Found in Human Waardenburg-Hirschsprung Patients