Mohammad Al-Owain

Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism

Anas M. Alazami, Mohammad Al-Owain, Fatema Alzahrani et al. · Human Mutation · 2012 · 85 citations

Life Sciences, Genetics, Molecular Genetics +15

Recessive Truncating Mutations in ALKBH8 Cause Intellectual Disability and Severe Impairment of Wobble Uridine Modification

Dorota Monies, Cathrine Broberg Vågbø, Mohammad Al-Owain et al. · The American Journal of Human Genetics · 2019 · 58 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Homozygous Loss-of-Function Mutations in AP1B1, Encoding Beta-1 Subunit of Adaptor-Related Protein Complex 1, Cause MEDNIK-like Syndrome

Hessa S. Alsaif, Mohammad Al-Owain, Martin E. Barrios‐Llerena et al. · The American Journal of Human Genetics · 2019 · 54 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals

Ken Saida, Reza Maroofian, Toru Sengoku et al. · Genetics in Medicine · 2022 · 39 citations · Full text

Life Sciences, Neurology, Neuroscience +16

Novel mutation in <i>GLRB</i> in a large family with hereditary hyperekplexia

Mohammad Al-Owain, Dilek Çolak, A Al‐Bakheet et al. · Clinical Genetics · 2011 · 36 citations

Life Sciences, Genetics, Molecular Genetics +14