Majid Alfadhel

King Saud bin Abdulaziz University for Health Sciences — Saudi Arabia

Biochemistry, Genetics and Molecular Biology · Life Sciences

45h-index7.6kcitations273works1.12yr avg
OpenAlex↗ORCID↗Google Scholar↗Lab page↗

Accepting Students?

No reports yet. Know if this professor is taking students?

Research Topics

Metabolism and Genetic Disorders(63), Genomics and Rare Diseases(57), Genetics and Neurodevelopmental Disorders(39), Mitochondrial Function and Pathology(33), Genomic variations and chromosomal abnormalities(31)

Publications271 total

Overview of pediatric and adult lysosomal acid lipase deficiency: expert recommendations from a Gulf cooperation council working group
Orphanet Journal of Rare Diseases·2025Open Access
Non-Invasive Prenatal Testing in the Kingdom of Saudi Arabia: Current Status of Adoption and Roadmap for the Future
The Application of Clinical Genetics·2025· 1 citedOpen Access
Adult genomic medicine: lessons from a multisite study of 2700 patients
Genome Medicine·2025· 2 citedOpen Access
Clinical and molecular characterization of hepatic glycogen storage disease in Saudi Arabia
PLoS ONE·2025Open Access
NAV3 Missense Variant in a Homozygous State: Strengthening Links to Neurodevelopmental Disorder
Current Medicinal Chemistry·2025Open Access
<scp> <i>SLC25A42</i> </scp> ‐Related Mitochondrial Disorder: New Cases and Literature Review
Clinical Genetics·2025Open Access
Biallelic Variants in <i>TMEM17</i> Cause Meckel‐Gruber Syndrome Within the Ciliopathy Spectrum
Clinical Genetics·2025
Premarital genetic screening for healthy couples: advantages and challenging
Journal of Biochemical and Clinical Genetics·2025Open Access
Case Report: Hypomyelinating Leukodystrophy Type 20 (<scp>HLD20</scp>) With Novel <scp><i>CNP</i></scp> Gene Variant
American Journal of Medical Genetics Part A·2025Open Access
Author response for "Biallelic Variants in &lt;i&gt;TMEM17&lt;/i&gt; Cause Meckel‐Gruber Syndrome Within the Ciliopathy Spectrum"
2025
FBXO22 deficiency defines a pleiotropic syndrome of growth restriction and multi-system anomalies associated with a unique epigenetic signature
The American Journal of Human Genetics·2025Open Access
Truncated SPAG9 as a novel candidate gene for a new syndrome: Coarse facial features, albinism, cataract and developmental delay (CACD syndrome)
Genetics and Molecular Biology·2025· 2 citedOpen Access
P768: Congenital myopathy and split-foot malformation: A unique case without mesoaxial polydactyly
Genetics in Medicine Open·2025Open Access
A nationwide cross-sectional study in Saudi Arabia for the assessment of understanding and practices of clinicians towards personalized genetic testing
Scientific Reports·2024· 3 citedOpen Access
The Importance and Deficiencies of Medical Treatment Guidelines for Genetic Disorders in the Middle East Region
Journal of Biochemical and Clinical Genetics·2024Open Access
First Report from Saudi Arabia of Trimethylaminuria Caused by a Premature Stop Codon Mutation in the FMO3 Gene
The Application of Clinical Genetics·2024Open Access
Outcomes of cases with elevated 3-hydroxyisovaleryl carnitine report from the newborn screening program
Molecular Genetics and Metabolism Reports·2024· 1 citedOpen Access
<i>FBXO22</i> deficiency defines a pleiotropic syndrome of growth restriction and multi-system anomalies associated with a unique epigenetic signature
2024· 1 citedOpen Access
Consanguinity and Occurrence of Monogenic Diseases in a Single Tertiary Centre in Riyadh, Saudi Arabia: A 2 Years Cross-Sectional Study
The Application of Clinical Genetics·2024· 4 citedOpen Access
Experts’ Opinion in Fabry Disease Management and the Unmet Medical Need: The Saudi Perspective
Therapeutics and Clinical Risk Management·2024Open Access
page 1 of 14Next →

Frequent Co-authors

Fowzan S. Alkuraya(16), Wafaa Eyaid(15), Eissa Faqeih(11), Amal Alhashem(11), Fuad Al Mutairi(11), Brahim Tabarki(11), Mohammed Al Balwi(10), Ahmed Alfares(10), Zuhair N. Al‐Hassnan(8), Hanan E. Shamseldin(7), Mohamed Abouelhoda(7), Dorota Monies(7), Sateesh Maddirevula(7), Mais Hashem(7), Fatema Alzahrani(6), Mustafa A. Salih(6), Mohammed Al‐Owain(6), Saeed Al Tala(6), Firdous Abdulwahab(6), Waleed Altwaijri(6)