Fatema Al Zahrani

Mutations in C12orf57 Cause a Syndromic Form of Colobomatous Microphthalmia

Fatema Al Zahrani, Mohammed A. Aldahmesh, Muneera Alshammari et al. · The American Journal of Human Genetics · 2013 · 41 citations · Full text

Pathology, Molecular Biology, Dermatology +2

Neuronal deficiency of<i>ARV1</i>causes an autosomal recessive epileptic encephalopathy

Elizabeth E. Palmer, Kelsey E. Jarrett, Rani Sachdev et al. · Human Molecular Genetics · 2016 · 31 citations · Full text

Neuronal Deficiency, Neurogenomics, Brain Development +19

De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome

Elizabeth E. Palmer, Seungbeom Hong, Fatema Al Zahrani et al. · The American Journal of Human Genetics · 2019 · 26 citations · Full text

Molecular Neuroscience, Genetic Disorder, Genetics +12

Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity

Quentin Thomas, Thierry Gautier, Dana Marafi et al. · Genetics in Medicine · 2021 · 16 citations · Full text

Intellectual Impairment, Neuropsychological Functioning, Variable Expressivity +7