Taghreed Shuaib

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

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

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

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

Identification of a novel ZNF469 mutation in a large family with Ehlers–Danlos phenotype

Mohammed Al‐Owain, Mohammed S. Al‐Dosari, Asma Sunker et al. · Gene · 2012 · 29 citations

Life Sciences, Genetics, Molecular Genetics +9