• Dr. Bushra Khan

  • Experience

    Designation Service Type From To
    Assistant Professor TTS Sep 29, 2014 November 24 2024

  • Biblography

    PhD in Human Molecular Genetics. Gold Medalist both at Master and Mphil Level. Current focus on the clinical and Molecular aspect's of different Genetic disorders

  • Research Publications

    S.No: Title
    1 Sequence Variants in the WNT10B and TP63 Underlying Isolated Split Hand-Split Foot Malformation
    2 Identification and computational analysis of novel TYR and SLC45A2 gene mutations in Pakistani families with identical non-syndromic Oculocutaneous albinism
    3 Biallelic variants in four genes underlying recessive osteogenesis imperfecta
    4 Identification of a novel biallelic missense variant in the KIAA0825 underlies postaxial polydactyly type A
    5 Association of sequence variants in frizzled-6 with autosomal recessive nail dysplasia (NDNC-10) in Pashtun families
    6 Novel homozygous loss-of-function mutations in RP1 and RP1L1 genes in retinitis pigmentosa patients
    7 A Novel Missense Variant in the BBS7 Gene Underlying Bardet-Biedl Syndrome in a Consanguineous Pakistani Family
    8 A novel insertion and deletion mutation in the BHLHA9 underlies polydactyly and mesoaxial synostotic syndactyly with phalangeal reduction.
    9 A novel chondroectodermal dysplasia mapped to chromosome 2q24.1-q31.1.
    10 Novel CLDN14 mutations in Pakistani families with autosomal recessive non-syndromic hearing loss.
    11 Mutations in WDR62 gene in Pakistani families with autosomal recessive primary microcephaly
    12 Mutations in lipase H gene underlie autosomal recessive hypotrichosis in five Pakistani families
    13 A novel missense mutation in cathepsin K (CTSK) gene in a consanguineous Pakistani family with pycnodysostosis.
    14 https://www.jdsjournal.com/article/S0923-1811(08)00374-5/fulltext

  • Award

  • Conferences

    Level Country City Conference Dated
    International Pakistan Islmabad 1 st International conference in biotechnology and Bioinformatics Feb 6, 2019
    National Pakistan mardan Innovative Vaccine Development Against HCV Dec 5, 2020
    National Pakistan mardan Novel genes identification in neurodevelopmental disorders Apr 27, 2019
    International Pakistan Islamabad International Conference on Drug Discovery & Development, AWKUM And NARC, Islamabad Feb 2, 18

  • Membership

  • Fundings

    Title Type Source From Date To Date
    Clinical and Molecular analysis of Pakistani families affected with Skin Disorders. Research grant award (Start Up) hec Mar 23, 15 Sep 14, 17

  • Social Accounts

    Title Link
    Publons Click to View
    Research Gate Click to View
    Orcid Click to View
    Google Scholar Click to View
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