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Musharraf Jelani

Associate Professor, Centre for Omic Sciences · Islamia College, Peshawar

https://researchid.co/d-4041-2013
@icp.edu.pk
62Scopus Publications

Research Interests

Human Genetics, Rare Mendelian Disorders, Exome Analysis, Bioinformatics.

Education

PhD in Human Skin Disorders, MPhil in Human Ectodermal Dysplasias, Master in Biochemistry Molecular Biology.

Recent Scopus Publications

  1. The genetic spectrum of achromatopsia in consanguineous families: insights from Whole exome sequencing across 15 affected individuals
    Ophthalmic Genetics, 2026
  2. Pathogenic variants identification in primary congenital glaucoma patients using whole exome sequencing
    Scientific Reports, 2025
  3. Polymerase chain reaction and its variants in molecular diagnostics
    Innovations and Implications in Molecular Diagnostics, 2025
  4. Whole exome sequencing: Unlocking the molecular diagnostic odyssey in Pakhtun ethnic group of Pakistani population
    Gene, 2025
  5. Thalidomide confers therapeutic benefit in beta thalassemia patients by enhancing hemoglobin and hematopoietic gene expression: A non-randomized clinical trial
    Blood Cells Molecules and Diseases, 2025

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