Maher Shahrour

Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features

Teresa Santiago‐Sim, Lindsay C. Burrage, Frédéric Ebstein et al. · The American Journal of Human Genetics · 2017 · 70 citations · Full text

Biallelic Variants, Medicine, Genetics +7

Mutation in the COX4I1 gene is associated with short stature, poor weight gain and increased chromosomal breaks, simulating Fanconi anemia

Bassam Abu‐Libdeh, Liza Douiev, Sarah Amro et al. · European Journal of Human Genetics · 2017 · 53 citations · Full text

Fanconi Anemia, Mendelian Disorder, Short Stature +8

Mutations in the phosphatidylinositol glycan C (<i>PIGC</i>) gene are associated with epilepsy and intellectual disability

Simon Edvardson, Yoshiko Murakami, Thi Tuyet Mai Nguyen et al. · Journal of Medical Genetics · 2016 · 48 citations

Mitochondrial epileptic encephalopathy, 3‐methylglutaconic aciduria and variable complex V deficiency associated with <i><scp>TIMM50</scp></i> mutations

Maher Shahrour, Orna Staretz‐Chacham, Danit Dayan et al. · Clinical Genetics · 2016 · 40 citations · Full text

Timm50 Gene, Neurodegenerative Diseases, Mitochondrial Epileptic Encephalopathy +15

Mitochondrial <i>PITRM1</i> peptidase loss-of-function in childhood cerebellar atrophy

Yeshaya Langer, Adi Aran, Süleyman Gülsüner et al. · Journal of Medical Genetics · 2018 · 37 citations · Full text