Author Information
Namik Kaya is a Senior Scientist and Head of the Cognitive Genetics Unit at the Department of Genetics, KFSHRC, MBC 03, Riyadh 11211, Saudi Arabia. His research focuses on various genetic disorders, with a deep interest in developmental and epileptic encephalopathies, central nervous system malformations, and mitochondrial encephalomyopathies. His extensive work in the field has significantly contributed to the understanding of genetic causes and molecular mechanisms underlying these conditions.Research Contributions
Dr. Namik Kaya has made substantial contributions to the field of genetics through his research on a variety of genetic disorders. In 2022, he explored the clinico-radiological features and molecular spectrum of developmental and epileptic encephalopathy due to ITPase deficiency. He also studied the genetic causes and clinical manifestations of central nervous system malformations, with an emphasis on the corpus callosum. In 2021, he revealed novel TTN variants in Saudi patients with congenital titinopathies and identified gene signatures as diagnostic and prognostic blood biomarkers for early hepatocellular carcinoma. His work spans across genetic ataxia telangiectasia, polycystic ovarian syndrome, mitochondrial encephalomyopathy, congenital myopathy, YIF1B related brain disorders, and neurodevelopmental impairments due to GEMIN4 variants.Aliases
Dr. Namik Kaya is also known by the aliases "N Kaya" and "N. Kaya".Publication and Citation Metrics
| Metric |
Value |
| Citation Count |
2973 |
| h-index |
25 |
| Paper Count |
102 |
