Suad Alyamani

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 · 309 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans

Jack J. Collier, Claire Guissart, Monika Oláhová et al. · New England Journal of Medicine · 2021 · 194 citations · Full text

Life Sciences, Developmental Biology, Genetics +11

Phenotypical spectrum of cerebellar ataxia associated with a novel mutation in the <i>CA8</i> gene, encoding carbonic anhydrase (CA) VIII

Namik Kaya, Hesham Aldhalaan, Banan Al‐Younes et al. · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · 2011 · 65 citations

Life Sciences, Genetics, Neurology +16

GNB5 mutation causes a novel neuropsychiatric disorder featuring attention deficit hyperactivity disorder, severely impaired language development and normal cognition

Hanan E. Shamseldin, Ikuo Masuho, Ahmed Alenizi et al. · Genome biology · 2016 · 46 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Lethal variants in humans: lessons learned from a large molecular autopsy cohort

Hanan E. Shamseldin, Lama AlAbdi, Sateesh Maddirevula et al. · Genome Medicine · 2021 · 29 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17