Gert Matthijs

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

Guidelines for diagnostic next-generation sequencing

Gert Matthijs, Erika Souche, Mariëlle Alders et al. · European Journal of Human Genetics · 2015 · 497 citations · Full text

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

Kym M. Boycott, Ana Rath, Jessica X. Chong et al. · The American Journal of Human Genetics · 2017 · 434 citations · Full text

Mutations in the Transcription Factor Gene SOX18 Underlie Recessive and Dominant Forms of Hypotrichosis-Lymphedema-Telangiectasia

Alexandre Irrthum, Koenraad Devriendt, David Chitayat et al. · The American Journal of Human Genetics · 2003 · 426 citations · Full text

Transcriptional Regulation, Developmental Biology, Genetic Disorder +6

Expansion of the Fragile X CGG Repeat in Females with Premutation or Intermediate Alleles

Sarah L. Nolin, W. Ted Brown, Anne Glicksman et al. · The American Journal of Human Genetics · 2003 · 418 citations · Full text

Allelic Variant, Genetic Disorder, Genetics +6