Mohammad A. Al–Muhaizea
Alfaisal University(SA)King Faisal Specialist Hospital & Research Centre(SA)
Publications by Year
Research Areas
Neurogenetic and Muscular Disorders Research, Genetics and Neurodevelopmental Disorders, Hereditary Neurological Disorders, Muscle Physiology and Disorders, Metabolism and Genetic Disorders
Most-Cited Works
- → The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes(2017)300 cited
- → The morbid genome of ciliopathies: an update(2020)103 cited
- → Molecular and clinical spectra of FBXL4 deficiency(2017)55 cited
- → Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking(2021)50 cited
- → NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism(2020)40 cited
- → Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families(2023)37 cited
- → Vici syndrome associated with unilateral lung hypoplasia and myopathy