Al-Muhaizea, Mohammad A.

Top Publications

Top Publications Authored or Co-Authored by "Al-Muhaizea, Mohammad A."

• The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes

  Human Genetics, Volume 136, No. 8, Year 2017, Citations 100
• Autozygome and high throughput confirmation of disease genes candidacy

  Genetics in Medicine, Volume 21, No. 3, Year 2019, Citations 78
• Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency

  Human Mutation, Volume 43, No. 3, Year 2022, Citations 75
• Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families

  Nature Communications, Volume 14, No. 1, Article 5269, Year 2023, Citations 68
• Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking

  Brain, Volume 144, No. 3, Year 2021, Citations 56