Majid Alfadhel
King Saud bin Abdulaziz University for Health Sciences(SA)King Abdulaziz Medical City(SA)King Abdullah International Medical Research Center(SA)King Salman Center for Disability Research(SA)National Guard Health Affairs(SA)
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Mitochondrial Function and Pathology, Genomic variations and chromosomal abnormalities
Most-Cited Works
- → Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families(2014)467 cited
- → Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome(2008)395 cited
- → Clinical exome sequencing: results from 2819 samples reflecting 1000 families(2016)366 cited
- → The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes(2017)300 cited
- → Exome Sequencing and the Management of Neurometabolic Disorders(2016)279 cited
- → Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield(2016)257 cited