Abdelaziz Sefiani

Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis

Lekbir Baala, Sylvain Briault, Heather Etchevers et al. · Nature Genetics · 2007 · 199 citations

Transcriptional Regulation, Developmental Biology, Ependyma +9

A Mutation in CALM1 Encoding Calmodulin in Familial Idiopathic Ventricular Fibrillation in Childhood and Adolescence

Roos F. Marsman, Julien Barc, Leander Beekman et al. · Journal of the American College of Cardiology · 2013 · 178 citations · Full text

Cardiomyopathy, Heart Failure, Genetics +7

Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

Vera M. Kalscheuer, Kristine Freude, Luciana Musante et al. · Nature Genetics · 2003 · 167 citations

Molecular Neuroscience, Mendelian Disorder, Psychiatry +10

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

Christopher T. Gordon, Shifeng Xue, Gökhan Yigit et al. · Nature Genetics · 2017 · 131 citations · Full text

Mendelian Disorder, Autoimmune Disease, Genetic Disorder +5

Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6

Ilham Ratbi, Kim D. Falkenberg, Manou Sommen et al. · The American Journal of Human Genetics · 2015 · 122 citations · Full text