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Majid Alfadhel

King Saud bin Abdulaziz University for Health Sciences
National Guard Health Affairs
King Abdulaziz Medical City

159

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2197

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DeepSVP: integration of genotype and phenotype for structural variant prioritization using deep learning.

2022 Bioinform.
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Editorial: Pediatric Neurometabolic Disorders.

2021 Frontiers in Neurology
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Variants of uncertain significance is a clinical dilemma

2021
- Majid Alfadhel
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Genetic carrier screening for disorders included in newborn screening in the Saudi population

2021
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Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects.

2021 Human Genetics
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Mutated VWA8 Is Associated With Developmental Delay, Microcephaly, and Scoliosis and Plays a Novel Role in Early Development and Skeletal Morphogenesis in Zebrafish

2021 Frontiers in Cell and Developmental Biology
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Caring for patients with rare diseases during the COVID-19 pandemic.

2021 Journal of Infection in Developing Countries
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Case Report and Literature Review: Homozygous DNAJC3 Mutation in a Saudi Family Causing Maturity Onset Diabetes of the Young (MODY), Hypothyroidism, Short Stature, Neurodegeneration, and Hearing Loss

2021 Journal of the Endocrine Society
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The Association between Obesity and Chronic Conditions: Results from a Large Electronic Health Records System in Saudi Arabia

2021 International Journal of Environmental Research and Public Health
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Identification of the TTC26 Splice Variant in a Novel Complex Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations

2021 Molecular Syndromology
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