List of works - Musharraf Jelani

A Novel Missense Mutation in the CLPP Gene Causing Perrault Syndrome Type 3 in a Turkish Family.

scientific article published on 18 April 2016

A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles

scientific article

A missense mutation in TRAPPC6A leads to build-up of the protein, in patients with a neurodevelopmental syndrome and dysmorphic features.

scientific article published in February 2018

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

article

A novel deletion mutation in LIPH gene causes autosomal recessive hypotrichosis (LAH2)

scientific article published on 28 April 2008

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.

scientific article

A novel splice-site mutation in the CDH3 gene in hypotrichosis with juvenile macular dystrophy

scientific article published on 01 January 2009

A recurrent missense mutation in the EDAR gene causes severe autosomal recessive hypohidrotic ectodermal dysplasia in two consanguineous Kashmiri families

scientific article published on 05 August 2019

Case of Sjögren-Larsson syndrome with a large deletion in the ALDH3A2 gene confirmed by single nucleotide polymorphism array analysis

scientific article published on 9 April 2015

Congenital cutis laxa syndrome maps to a novel locus on chromosome 9q13-q21.32

scientific article published on 05 December 2010

Deletion mutation in BSCL2 gene underlies congenital generalized lipodystrophy in a Pakistani family

scientific article published on 9 May 2013

Digenic inheritance of an autosomal recessive hypotrichosis in two consanguineous pedigrees

scientific article published on 01 March 2011

Ectodermal dysplasia of hair and nail type: mapping of a novel locus to chromosome 17p12-q21.2.

scientific article published on 01 December 2006

Exome Analysis Identifies a Novel Compound Heterozygous Alteration in Gene Leading to Lamellar Ichthyosis in a Child From Saudi Arabia: Case Presentation

article

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.

scientific article published on May 2015

Familial primary localized cutaneous amyloidosis results from either dominant or recessive mutations in OSMR

scientific article published on 01 November 2015

Genetic variations in drug-metabolizing enzyme CYP2C9 among major ethnic groups of Pakistani population

scientific article published on 07 April 2020

Identification of a recurrent nonsense mutation in HR gene responsible for atrichia with papular lesions in two Kashmiri families

scientific article published on 05 February 2020

Insight into the serum kisspeptin levels in infertile males

scientific article published on 01 January 2015

Investigations on surface morphology and bandgap engineering of single crystal boron-doped silicon irradiated by a nanosecond laser.

scientific article published in February 2018

Mutation analysis of the ASPM gene in 18 Pakistani families with autosomal recessive primary microcephaly.

scientific article published on 6 October 2009

Mutation in PVRL4 gene encoding nectin-4 underlies ectodermal-dysplasia-syndactyly syndrome (EDSS1)

article

Novel autosomal recessive nonsyndromic hearing impairment locus DFNB90 maps to 7p22.1-p15.3.

scientific article

Novel compound heterozygous and homozygous variants of laminin subunit β3 gene underlie non-Herlitz junctional epidermolysis bullosa in two paternal half-brothers from Saudi Arabia

scientific article published on 6 July 2018

Novel insertion and a previously reported nonsense variant of ALOXE3 gene lead to autosomal recessive ichthyosis in two Balochi families

article

Novel missense alteration in LRP4 gene underlies Cenani-Lenz syndactyly syndrome in a consanguineous family

scientific article published on 03 January 2020

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

scientific article published on 07 May 2008

Novel nonsense mutation in the PTRF gene underlies congenital generalized lipodystrophy in a consanguineous Saudi family.

scientific article

Novel splice site mutation in EIF2AK3 gene causes Wolcott-Rallison syndrome in a consanguineous family from Saudi Arabia.

scientific article

Selective glycosidase inhibitors: A patent review (2012-present).

scientific article published on 2 January 2018

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

scientific article published on 22 December 2017

The alkylglycerol monooxygenase (AGMO) gene previously involved in autism also causes a novel syndromic form of primary microcephaly in a consanguineous Saudi family

scientific article

The prevalence of APOL1 gene variants in a cohort of renal disease patients in Western Saudi Arabia

scientific article published on 01 July 2018

Truncating mutation in intracellular phospholipase A₁ gene (DDHD2) in hereditary spastic paraplegia with intellectual disability (SPG54).

scientific article published on 27 June 2015

Whole exome analysis reveals a novel missense PNPLA1 variant that causes autosomal recessive congenital ichthyosis in a Pakistani family.

scientific article published on 31 December 2015

Whole exome sequencing identified a novel missense alteration in CC2D2A causing Joubert syndrome 9 in a Pakhtun family

scientific article published on 28 September 2020

Whole-exome sequencing analysis reveals co-segregation of a COL20A1 missense mutation in a Pakistani family with striate palmoplantar keratoderma

scientific article published on 02 May 2018

List of works by Musharraf Jelani

A Novel Missense Mutation in the CLPP Gene Causing Perrault Syndrome Type 3 in a Turkish Family.

A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles

A missense mutation in TRAPPC6A leads to build-up of the protein, in patients with a neurodevelopmental syndrome and dysmorphic features.

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

A novel deletion mutation in LIPH gene causes autosomal recessive hypotrichosis (LAH2)

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.

A novel splice-site mutation in the CDH3 gene in hypotrichosis with juvenile macular dystrophy

A recurrent missense mutation in the EDAR gene causes severe autosomal recessive hypohidrotic ectodermal dysplasia in two consanguineous Kashmiri families

Case of Sjögren-Larsson syndrome with a large deletion in the ALDH3A2 gene confirmed by single nucleotide polymorphism array analysis

Congenital cutis laxa syndrome maps to a novel locus on chromosome 9q13-q21.32

Deletion mutation in BSCL2 gene underlies congenital generalized lipodystrophy in a Pakistani family

Digenic inheritance of an autosomal recessive hypotrichosis in two consanguineous pedigrees

Ectodermal dysplasia of hair and nail type: mapping of a novel locus to chromosome 17p12-q21.2.

Exome Analysis Identifies a Novel Compound Heterozygous Alteration in Gene Leading to Lamellar Ichthyosis in a Child From Saudi Arabia: Case Presentation

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.

Familial primary localized cutaneous amyloidosis results from either dominant or recessive mutations in OSMR

Genetic variations in drug-metabolizing enzyme CYP2C9 among major ethnic groups of Pakistani population

Identification of a recurrent nonsense mutation in HR gene responsible for atrichia with papular lesions in two Kashmiri families

Insight into the serum kisspeptin levels in infertile males

Investigations on surface morphology and bandgap engineering of single crystal boron-doped silicon irradiated by a nanosecond laser.

Mutation analysis of the ASPM gene in 18 Pakistani families with autosomal recessive primary microcephaly.

Mutation in PVRL4 gene encoding nectin-4 underlies ectodermal-dysplasia-syndactyly syndrome (EDSS1)

Novel autosomal recessive nonsyndromic hearing impairment locus DFNB90 maps to 7p22.1-p15.3.

Novel compound heterozygous and homozygous variants of laminin subunit β3 gene underlie non-Herlitz junctional epidermolysis bullosa in two paternal half-brothers from Saudi Arabia

Novel insertion and a previously reported nonsense variant of ALOXE3 gene lead to autosomal recessive ichthyosis in two Balochi families

Novel missense alteration in LRP4 gene underlies Cenani-Lenz syndactyly syndrome in a consanguineous family

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

Novel nonsense mutation in the PTRF gene underlies congenital generalized lipodystrophy in a consanguineous Saudi family.

Novel splice site mutation in EIF2AK3 gene causes Wolcott-Rallison syndrome in a consanguineous family from Saudi Arabia.

Selective glycosidase inhibitors: A patent review (2012-present).

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

The alkylglycerol monooxygenase (AGMO) gene previously involved in autism also causes a novel syndromic form of primary microcephaly in a consanguineous Saudi family

The prevalence of APOL1 gene variants in a cohort of renal disease patients in Western Saudi Arabia

Truncating mutation in intracellular phospholipase A₁ gene (DDHD2) in hereditary spastic paraplegia with intellectual disability (SPG54).

Whole exome analysis reveals a novel missense PNPLA1 variant that causes autosomal recessive congenital ichthyosis in a Pakistani family.

Whole exome sequencing identified a novel missense alteration in CC2D2A causing Joubert syndrome 9 in a Pakhtun family

Whole-exome sequencing analysis reveals co-segregation of a COL20A1 missense mutation in a Pakistani family with striate palmoplantar keratoderma