Alya Qari
Alfaisal University(SA)King Saud bin Abdulaziz University for Health Sciences(SA)Umm al-Qura University(SA)King Faisal Specialist Hospital & Research Centre(SA)
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Mitochondrial Function and Pathology, BRCA gene mutations in cancer
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
- → Molecular autopsy in maternal–fetal medicine(2017)123 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
- → The morbid genome of ciliopathies: an update(2020)103 cited