Ilham Ratbi

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

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

Exome sequencing reveals a novel Moroccan founder mutation in<i>SLC19A3</i>as a new cause of early-childhood fatal Leigh syndrome

Mike Gerards, Rick Kamps, Jo van Oevelen et al. · Brain · 2013 · 93 citations · Full text

GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability

Elisabeth M. Lodder, Pasquelena De Nittis, Charlotte D. Koopman et al. · The American Journal of Human Genetics · 2016 · 80 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +8