Majid Alfadhel

Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families

Anas M. Alazami, Nisha Patel, Hanan E. Shamseldin et al. · Cell Reports · 2014 · 465 citations · Full text

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

Carmen C. Leitch, Norann A. Zaghloul, Erica E. Davis et al. · Nature Genetics · 2008 · 394 citations

Syndromic Encephalocele Genes, Developmental Biology, Mendelian Disorder +9

Clinical exome sequencing: results from 2819 samples reflecting 1000 families

Daniel Trujillano, Aida M. Bertoli‐Avella, Krishna Kumar Kandaswamy et al. · European Journal of Human Genetics · 2016 · 361 citations · Full text

Wes Processes, Genetics, Genetic Epidemiology +21

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes

Dorota Monies, Mohamed Abouelhoda, Moeenaldeen AlSayed et al. · Human Genetics · 2017 · 296 citations · Full text

Exome Sequencing and the Management of Neurometabolic Disorders

Maja Tarailo‐Graovac, Casper Shyr, Colin J.D. Ross et al. · New England Journal of Medicine · 2016 · 274 citations · Full text