Bushra Rauf

Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease

Emma M. Jenkinson, Atteeq U. Rehman, Tom Walsh et al. · The American Journal of Human Genetics · 2013 · 238 citations · Full text

Mitochondrial Function, Genetic Disorder, Medicine +7

Mutation in LIM2 Is Responsible for Autosomal Recessive Congenital Cataracts

Bushra Irum, Shahid Y. Khan, Muhammad Ali et al. · PLoS ONE · 2016 · 25 citations · Full text

A spectrum of CYP1B1 mutations associated with primary congenital glaucoma in families of Pakistani descent

Bushra Rauf, Bushra Irum, Firoz Kabir et al. · Human Genome Variation · 2016 · 24 citations · Full text

Molecular Diagnostic Techniques, Ocular Disease, Mendelian Disorder +15

Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts

Bushra Irum, Shahid Y. Khan, Muhammad Ali et al. · PLoS ONE · 2016 · 11 citations · Full text

Novel mutations in <i>LTBP2</i> identified in familial cases of primary congenital glaucoma.

Bushra Rauf, Bushra Irum, Shahid Y. Khan et al. · PubMed · 2020 · 11 citations · Full text