Waardenburg syndrome type II in a Chinese patient caused by a novel nonsense mutation in the SOX10 gene

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

Kai Wang, Man Li, Håkon Håkonarson · Nucleic Acids Research · 2010 · 15.6K citations · Full text

Life Sciences, Bioinformatics, Genetics +17

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

Using SIFT and PolyPhen to Predict Loss-of-Function and Gain-of-Function Mutations

Sarah E. Flanagan, Ann‐Marie Patch, Sian Ellard · Genetic Testing and Molecular Biomarkers · 2010 · 424 citations

Life Sciences, Bioinformatics, Genetics +17

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