Hussman Institute for Human Genomics

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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., Jan 1 2020, (Accepted/In press) In : Molecular Genetics and Genomic Medicine. e1171.

    Research output: Contribution to journalArticle

    Open Access
  • Genetic modifiers and non-Mendelian aspects of CMT

    Bis-Brewer, D. M., Fazal, S. & Züchner, S., Jan 1 2020, In : Brain Research. 1726, 146459.

    Research output: Contribution to journalReview article

  • 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