Heba Y. El Khashab

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

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

Autozygome and high throughput confirmation of disease genes candidacy

Sateesh Maddirevula, Fatema Alzahrani, Mohammed Al‐Owain et al. · Genetics in Medicine · 2018 · 112 citations · Full text

Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy

Marianna Madeo, Michelle Stewart, Yuyang Sun et al. · The American Journal of Human Genetics · 2016 · 51 citations · Full text

Neurological Disorder, Frrs1l Lead, Neurology +5

Pathogenic variants in<i>KCTD7</i>perturb neuronal K⁺fluxes and glutamine transport

Marivi Nabong Moen, Roar Fjær, El Hassan Hamdani et al. · Brain · 2016 · 36 citations · Full text