Morad Ansari

Variant detection sensitivity and biases in whole genome and exome sequencing

Alison Meynert, Morad Ansari, David Fitzpatrick et al. · BMC Bioinformatics · 2014 · 223 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

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 · 171 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

Nadia Akawi, Jeremy F. McRae, Morad Ansari et al. · Nature Genetics · 2015 · 163 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

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 · 162 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

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 · 152 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13