Hamad Alzaidan
King Faisal Specialist Hospital & Research Centre(SA)
Publications by Year
Research Areas
Genomics and Rare Diseases, Metabolism and Genetic Disorders, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Mitochondrial Function and Pathology
Most-Cited Works
- → The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes(2017)300 cited
- → Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population(2019)279 cited
- → Mutations in NALCN Cause an Autosomal-Recessive Syndrome with Severe Hypotonia, Speech Impairment, and Cognitive Delay(2013)120 cited
- → Autozygome and high throughput confirmation of disease genes candidacy(2018)116 cited
- → Expanded Newborn Screening Program in Saudi Arabia: Incidence of screened disorders(2017)113 cited
- → Identification of novel loci for pediatric cholestatic liver disease defined by KIF12, PPM1F, USP53, LSR, and WDR83OS pathogenic variants(2018)112 cited
- → Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue(2016)111 cited
- → Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies(2015)109 cited
- → The morbid genome of ciliopathies: an update(2020)103 cited
- → Map of autosomal recessive genetic disorders in Saudi Arabia: Concepts and future directions(2012)101 cited