Musharraf Jelani

A Homozygous Nonsense Mutation in the Human Desmocollin-3 (DSC3) Gene Underlies Hereditary Hypotrichosis and Recurrent Skin Vesicles

Muhammad Ayub, Sulman Basit, Musharraf Jelani et al. · The American Journal of Human Genetics · 2009 · 84 citations · Full text

Genetic Disorder, Genetics, Molecular Genetics +7

Subtractive genome analysis for in silico identification and characterization of novel drug targets in Streptococcus pneumonia strain JJA

Abdul Wadood, Alam Jamal, Muhammad Riaz et al. · Microbial Pathogenesis · 2017 · 51 citations

Subtractive Genome Analysis, Antimicrobial Resistance Gene, Health Sciences +10

Novel mutations in G protein-coupled receptor gene (P2RY5) in families with autosomal recessive hypotrichosis (LAH3)

Zahid Azeem, Musharraf Jelani, Gul Naz et al. · Human Genetics · 2008 · 49 citations

Signal Transduction, G Protein-coupled Receptor, Genetic Disorder +9

Exome analysis identified a novel missense mutation in the CLPP gene in a consanguineous Saudi family expanding the clinical spectrum of Perrault Syndrome type-3

Saleem Ahmed, Musharraf Jelani, Nuha Alrayes et al. · Journal of the Neurological Sciences · 2015 · 44 citations

Mendelian Disorder, Clpp Gene, Genetic Disorder +9

A mutation in the major autophagy gene, WIPI2, associated with global developmental abnormalities

Musharraf Jelani, Hannah C. Dooley, Andrea Gubaš et al. · Brain · 2019 · 42 citations · Full text

Mitophagy, Family Members, Genetics +20