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Musharraf Jelani

Observed names: Jelani, Musharraf, M Jelani, M. Jelani, Musharraf, Jelani
Observed institutions: Quaid-i-Azam University, St George's, University of London, Baylor College of Medicine, King Abdulaziz University, Islamia College University, Khyber Medical University, King Abdul Aziz University Hospital, King Abdulaziz Hospital
ORCID: 0000-0002-3421-0079
Observed ORCID: 0000-0002-3421-0079
OpenAlex ID: A5047102575
A Homozygous Nonsense Mutation in the Human Desmocollin-3 (DSC3) Gene Underlies Hereditary Hypotrichosis and Recurrent Skin Vesicles
2009 · Muhammad Ayub, Sulman Basit, et al. · The American Journal of Human Genetics · 88
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Subtractive genome analysis for in silico identification and characterization of novel drug targets in Streptococcus pneumonia strain JJA
2017 · Abdul Wadood, Alam Jamal, et al. · Microbial Pathogenesis · 54
A mutation in the major autophagy gene, WIPI2, associated with global developmental abnormalities
2019 · Musharraf Jelani, Hannah C. Dooley, et al. · Brain · 51
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Novel mutations in G protein-coupled receptor gene (P2RY5) in families with autosomal recessive hypotrichosis (LAH3)
2008 · Zahid Azeem, Musharraf Jelani, et al. · Human Genetics · 51
Selective glycosidase inhibitors: A patent review (2012–present)
2018 · Abdul Wadood, Mehreen Ghufran, et al. · International Journal of Biological Macromolecules · 50
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
2015 · Saleem Ahmed, Musharraf Jelani, et al. · Journal of the Neurological Sciences · 43
A missense mutation in TRAPPC6A leads to build-up of the protein, in patients with a neurodevelopmental syndrome and dysmorphic features
2018 · Hussein Sheikh Mohamoud, Saleem Ahmed, et al. · Scientific Reports · 42
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Novel nonsense mutation in the PTRF gene underlies congenital generalized lipodystrophy in a consanguineous Saudi family
2015 · Musharraf Jelani, Saleem Ahmed, et al. · European Journal of Medical Genetics · 36
A novel splice-site mutation in theCDH3gene in hypotrichosis with juvenile macular dystrophy
2008 · M. Jelani, M. Salman Chishti, et al. · Clinical and Experimental Dermatology · 33
A novel deletion mutation in LIPH gene causes autosomal recessive hypotrichosis (LAH2)
2008 · M Jelani, N Wasif, et al. · Clinical Genetics · 32
Mutation in PVRL4 gene encoding nectin-4 underlies ectodermal-dysplasia-syndactyly syndrome (EDSS1)
2011 · Musharraf Jelani, Muhammad Salman Chishti, et al. · Journal of Human Genetics · 31
Insight into the serum kisspeptin levels in infertile males.
2015 · Muhammad Haris Ramzan, Muhammad Ramzan, et al. · PubMed · 30
A novel homozygous PTH1R variant identified through whole-exome sequencing further expands the clinical spectrum of primary failure of tooth eruption in a consanguineous Saudi family
2016 · Musharraf Jelani, Changsoo Kang, et al. · Archives of Oral Biology · 29
A Novel Missense Mutation in the CLPP Gene Causing Perrault Syndrome Type 3 in a Turkish Family
2016 · Fatma Dursun, Hussein Sheikh Ali Mohamoud, et al. · Journal of Clinical Research in Pediatric Endocrinology · 27
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Ectodermal dysplasia of hair and nail type: mapping of a novel locus to chromosome 17p12-q21.2
2006 · M. Naeem, M. Jelani, et al. · British Journal of Dermatology · 27
The alkylglycerol monooxygenase (AGMO) gene previously involved in autism also causes a novel syndromic form of primary microcephaly in a consanguineous Saudi family
2016 · Nuha Alrayes, Hussein Sheikh Ali Mohamoud, et al. · Journal of the Neurological Sciences · 23
Mutation Analysis of the ASPM Gene in 18 Pakistani Families With Autosomal Recessive Primary Microcephaly
2009 · Rizwana Kousar, Hira Nawaz, et al. · Journal of Child Neurology · 23
Deletion mutation in BSCL2 gene underlies congenital generalized lipodystrophy in a Pakistani family
2013 · Obaid Ur Rahman, Nadeem Khawar, et al. · Diagnostic Pathology · 22
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Mutations in theP2RY5gene underlie autosomal recessive hypotrichosis in 13 Pakistani families
2009 · M. Tariq, M. Ayub, et al. · British Journal of Dermatology · 22
Truncating mutation in intracellular phospholipase A1 gene (DDHD2) in hereditary spastic paraplegia with intellectual disability (SPG54)
2015 · Nuha Alrayes, Hussein Sheikh Ali Mohamoud, et al. · BMC Research Notes · 21
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Digenic inheritance of an autosomal recessive hypotrichosis in two consanguineous pedigrees
2010 · S Basit, A Wali, et al. · Clinical Genetics · 20
Case of Sjögren–Larsson syndrome with a large deletion in the ALDH3A2 gene confirmed by single nucleotide polymorphism array analysis
2015 · Nagwa E. A. Gaboon, Musharraf Jelani, et al. · The Journal of Dermatology · 17
Novel Variants in MPV17, PRX, GJB1, and SACS Cause Charcot–Marie–Tooth and Spastic Ataxia of Charlevoix–Saguenay Type Diseases
2023 · Qaiser Zaman, Muhammad Abbas Khan, et al. · Genes · 16
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Whole exome analysis reveals a novel missense PNPLA1 variant that causes autosomal recessive congenital ichthyosis in a Pakistani family
2016 · Eunji Lee, Obaid Ur Rahman, et al. · Journal of Dermatological Science · 16
Familial Primary Localized Cutaneous Amyloidosis Results from Either Dominant or Recessive Mutations in OSMR
2015 · A Wali, L Liu, et al. · Acta Dermato Venereologica · 16
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Works count: 76
Citation count: 1,018
H-index: 20
I10-index: 30
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