Abdulaziz Alsaman

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

Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield

Shams Anazi, Sateesh Maddirevula, Eissa Faqeih et al. · Molecular Psychiatry · 2016 · 260 citations

Life Sciences, Genetics, Molecular Genetics +17

Expanding the genetic heterogeneity of intellectual disability

Shams Anazi, Sateesh Maddirevula, Vincenzo Salpietro et al. · Human Genetics · 2017 · 176 citations

Life Sciences, Genetics, Molecular Genetics +14

Clinical, Pathologic, and Mutational Spectrum of Dystroglycanopathy Caused by<i>LARGE</i>Mutations

Katherine G. Meilleur, Kristen Zukosky, Līvija Medne et al. · Journal of Neuropathology & Experimental Neurology · 2014 · 51 citations · Full text

Medicine, Genetics, Neurology +17

FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance

Mohammed Almannai, Julia Wang, Hongzheng Dai et al. · Molecular Genetics and Metabolism · 2018 · 34 citations

Life Sciences, Genetics, Molecular Genetics +11