Morad Ansari

Variant detection sensitivity and biases in whole genome and exome sequencing

Alison Meynert, Morad Ansari, David Fitzpatrick et al. · BMC Bioinformatics · 2014 · 220 citations · Full text

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

Morad Ansari, Gemma Poke, Quentin R. V. Ferry et al. · Journal of Medical Genetics · 2014 · 165 citations · Full text

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

Natalie D. Shaw, Harrison Brand, Zachary A Kupchinsky et al. · Nature Genetics · 2017 · 160 citations · Full text

Rare Diseases, Smchd1 Mutations, Mendelian Disorder +9

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

Frank J. Kaiser, Morad Ansari, Diana Braunholz et al. · Human Molecular Genetics · 2014 · 146 citations · Full text

Genetics, Immunodeficiencies, Genetic Epidemiology +27

Identification of Novel Craniofacial Regulatory Domains Located far Upstream of<i>SOX9</i>and Disrupted in Pierre Robin Sequence

Christopher T. Gordon, Catia Attanasio, Shipra Bhatia et al. · Human Mutation · 2014 · 110 citations · Full text