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Dr. Bushra Irum

Dr. Bushra Irum
( Assistant Professor )

  • Ph.D., Centre of Excellence in Molecular Biology, University of the Punjab, Lahore (2018)

Title Volume.# Issue.# Pages Year
Novel mutations in LTBP2 identified in familial cases of primary congenital glaucoma
Journal Name: Molecular Vision
Volume # 26 Issue # 1 Page # 334-344 Year of Publication: 2026
Advancements and Challenges in Anti-Aging Research: Exploring Anti-Aging Pathways to Longevity and Disease Prevention
Journal Name: Indus Journal of Bioscience Research
Volume # 3 Issue # 12 Year of Publication: 2025
Thalassaemia Patients with Polymorphism of COL1A1 Sp1 are at Greater Risk of Spine Degenerative Changes
Journal Name: J Coll Physicians Surg Pak
Volume # 33 Issue # 12 Year of Publication: 2023
Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.
Journal Name: Scientific Reports
Volume # 12 Issue # 1 Year of Publication: 2022
A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.
Journal Name: Human Genome Variation
Volume # 9 Issue # 1 Year of Publication: 2022
A missense allele of PEX5 is responsible for the defective import of PTS2 cargo proteins into peroxisomes
Journal Name: Human genetics
Volume # 140 Issue # 4 Page # 649-666 Year of Publication: 2021
Mutations in FYCO1 identified in families with congenital cataracts.
Journal Name: Molecular vision
Volume # 26 Issue # 1 Year of Publication: 2020
Deletion at the GCNT2 locus causes autosomal recessive congenital cataracts
Journal Name: Plos One
Volume # 11 Issue # 12 Year of Publication: 2016
Mutation in LIM2 is responsible for autosomal recessive congenital cataracts
Journal Name: Plos One
Volume # 11 Issue # 11 Year of Publication: 2016
A spectrum of CYP1B1 mutations associated with primary congenital glaucoma in families of Pakistani descent.
Journal Name: Human Genome Variation
Volume # 3 Issue # 1 Year of Publication: 2016
A common ancestral mutation in CRYBB3 identified in multiple consanguineous families with congenital cataracts.
Journal Name: Plos One
Volume # 11 Issue # 06 Year of Publication: 2016
Missense mutations in CRYAB are liable for recessive congenital cataracts
Journal Name: Plos One
Volume # 12 Issue # 1 Year of Publication: 2015