• 6315 Citations

Research output per year

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  • Research Output

    Analyses of del(GJB6-D13S1830) and del(GJB6-D13S1834) deletions in a large cohort with hearing loss: Caveats to interpretation of molecular test results in multiplex families

    Pandya, A., O'Brien, A., Kovasala, M., Bademci, G., Tekin, M. & Arnos, K. S., Apr 1 2020, In : Molecular Genetics and Genomic Medicine. 8, 4, e1171.

    Research output: Contribution to journalArticle

    Open Access
  • 1 Scopus citations

    De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation

    Undiagnosed Diseases Network, Apr 2 2020, In : American journal of human genetics. 106, 4, p. 570-583 14 p.

    Research output: Contribution to journalArticle

  • Genomics, Epigenetics, and Hearing Loss in Neurofibromatosis Type 2

    Dinh, C. T., Nisenbaum, E., Chyou, D., Misztal, C., Yan, D., Mittal, R., Young, J., Tekin, M., Telischi, F., Fernandez-Valle, C. & Liu, X. Z., Jun 1 2020, In : Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology. 41, 5, p. e529-e537

    Research output: Contribution to journalArticle

  • Novel OTOF pathogenic variant segregating with non-syndromic hearing loss in a consanguineous family from tribal Rajouri in Jammu and Kashmir

    Kuchay, R. A. H., Mir, Y. R., Zeng, X., Hassan, A., Namba, K. & Tekin, M., Mar 2020, In : International Journal of Pediatric Otorhinolaryngology. 130, 109831.

    Research output: Contribution to journalArticle

  • Spectrum of genetic variants associated with anterior segment dysgenesis in South Florida

    Thanikachalam, S., Hodapp, E. A., Chang, T. C., Swols, D. M., Cengiz, F. B., Guo, S., Zafeer, M. F., Seyhan, S., Bademci, G., Scott, W. K., Grajewski, A. & Tekin, M., Apr 2020, In : Genes. 11, 4, 350.

    Research output: Contribution to journalArticle

    Open Access