Involvement of SOX10 in the pathogenesis of Hirschsprung disease: report of a truncating mutation in an isolated patient

SOX10 mutations in patients with Waardenburg-Hirschsprung disease

Véronique Pingault, Nadège Bondurand, Kirsten Kuhlbrodt et al. · Nature Genetics · 1998 · 818 citations

Life Sciences, Genetics, Molecular Genetics +11

Sox10, a Novel Transcriptional Modulator in Glial Cells

Kirsten Kuhlbrodt, Beate Herbarth, Elisabeth Sock et al. · Journal of Neuroscience · 1998 · 788 citations · Full text

Life Sciences, Genetics, Neuroscience +15

Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome

Nadège Bondurand · Human Molecular Genetics · 2000 · 458 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations

Ken Inoue, Mehrdad Khajavi, Tomoko Ohyama et al. · Nature Genetics · 2004 · 421 citations

Life Sciences, Genetics, Molecular Genetics +16

A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)

Robert M.W. Hofstra, Jan Osinga, Gita Tan-Sindhunata et al. · Nature Genetics · 1996 · 299 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11