Author Information
Umut Altunoğlu is a distinguished researcher affiliated with the Department of Medical Genetics at Istanbul Medical School, Istanbul University, located in Istanbul, Turkey. His work has significantly contributed to the field of genetics, particularly in understanding complex genetic disorders and their clinical implications.Research Contributions
Umut Altunoğlu has made substantial contributions to the field of genetics, focusing on a range of topics including genetic mutations, clinical genetics, and the molecular evaluation of genetic variants. His research covers critical areas such as the study of mutations in AR or SRD5A2 genes related to disorders of sex development, the application of whole exome sequencing for prenatal diagnosis of congenital heart defects, and the molecular examination of MEFV gene variants in the Turkish population. Additionally, he has explored the clinical implications of genetic conditions like osteoporosis-pseudoglioma syndrome and distal arthrogryposis, as well as the molecular basis of systemic sclerosis and neurodevelopmental defects.Aliases
Umut Altunoğlu is also known by several aliases, including U. Altunoğlu, U. Altunoglu, and Umut Altunoglu. These variations may appear in different publications or academic contexts.Publication and Citation Metrics
| Metric |
Value |
| Citation Count |
1762 |
| H-Index |
21 |
| Paper Count |
100 |
