Ali Al Asmari

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 · 254 citations

Intellectual Impairment, Medicine, Genetics +6

Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate

Wu‐Lin Charng, Ender Karaca, Zeynep Coban‐Akdemir et al. · BMC Medical Genomics · 2016 · 108 citations · Full text

Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy

Tamar Harel, Gözde Yeşil, Yavuz Bayram et al. · The American Journal of Human Genetics · 2016 · 80 citations · Full text

Developmental Biology, Mendelian Disorder, Biallelic Variants +9

<i>ADAT3</i>‐related intellectual disability: Further delineation of the phenotype

Ayman W. El‐Hattab, Mohammed A. Saleh, Amal Hashem et al. · American Journal of Medical Genetics Part A · 2016 · 62 citations

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

Holger Hengel, Célia Bosso-Lefèvre, George Grady et al. · Nature Communications · 2020 · 52 citations · Full text