Truncating mutation in intracellular phospholipase A1 gene (DDHD2) in hereditary spastic paraplegia with intellectual disability (SPG54)
2015 · BMC Research Notes · 23 citations
https://doi.org/10.1186/s13104-015-1227-4
M
Musharraf Jelani
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Musharraf Jelani is an academic researcher from Islamia College University. The author has contributed to research in topics: Skin and Cellular Biology Research & Wnt/β-catenin signaling in development and cancer & Hair Growth and Disorders. The author has an h-index of 20, co-authored 60 publications.
ORCID: 0000-0002-3421-0079Papers by this author
worksDeletion mutation in BSCL2 gene underlies congenital generalized lipodystrophy in a Pakistani family
2013 · Diagnostic Pathology · 20 citations
https://doi.org/10.1186/1746-1596-8-78
Biallelic inheritance in a single Pakistani family with intellectual disability implicates new candidate gene RDH14
2021 · Scientific Reports · 7 citations
https://doi.org/10.1038/s41598-021-02599-z
Whole Exome Sequencing Confirms Molecular Diagnostics of Three Pakhtun Families With Autosomal Recessive Epidermolysis Bullosa
2021 · Frontiers in Pediatrics · 4 citations
https://doi.org/10.3389/fped.2021.727288
A homozygous variant in ARHGAP39 is associated with lethal cerebellar vermis hypoplasia in a consanguineous Saudi family
2024 · Scientific Reports · 1 citations
https://doi.org/10.1038/s41598-024-77541-0
Whole exome sequencing in 33 patients revealed 4 novel variants in 11 limbs-girdle muscular dystrophy families
2025 · Gene Reports · 1 citations
https://doi.org/10.1016/j.genrep.2025.102218
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