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List of works by Wasim Ahmad

A homozygous missense mutation in SLC25A16 associated with autosomal recessive isolated fingernail dysplasia in a Pakistani family

scientific article

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

scientific article

A new autosomal recessive nonsyndromic hearing impairment locus DFNB96 on chromosome 1p36.31-p36.13.

scientific article published on 22 September 2011

A novel WDR62 mutation causes primary microcephaly in a Pakistani family

scientific article published on 14 October 2012

A novel chondroectodermal dysplasia mapped to chromosome 2q24.1-q31.1.

scientific article published on 22 April 2012

A novel deletion mutation in proteoglycan-4 underlies camptodactyly-arthropathy-coxa-vara-pericarditis syndrome in a consanguineous pakistani family

scientific article published on 01 February 2011

A novel homozygous missense variant in NECTIN4 (PVRL4) causing ectodermal dysplasia cutaneous syndactyly syndrome.

scientific article published on 12 February 2018

A novel homozygous sequence variant in GLI1 underlies first case of autosomal recessive pre-axial polydactyly

scientific article published on 08 January 2019

A novel homozygous variant in BMPR1B underlies acromesomelic dysplasia Hunter-Thompson type.

scientific article published on 10 January 2018

A novel homozygous variant in the SMOC1 gene underlying Waardenburg anophthalmia syndrome.

scientific article published on 13 January 2017

A novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia

scientific article published on 7 July 2015

A novel insertion mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene underlies Grebe-type chondrodysplasia in a consanguineous Pakistani family

scientific article

A novel pathogenic missense variant in CNNM4 underlying Jalili syndrome: Insights from molecular dynamics simulations

scientific article published on 25 July 2019

A novel splice site mutation in gene C2orf37 underlying Woodhouse-Sakati syndrome (WSS) in a consanguineous family of Pakistani origin.

scientific article

ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment

scientific article published on 16 June 2021

Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.

scientific article

Autosomal recessive transmission of a rare HOXC13 variant causes pure hair and nail ectodermal dysplasia

scientific article

BBS5 and INPP5E mutations associated with ciliopathy disorders in families from Pakistan

scientific article published on 07 June 2019

Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families

scientific article published on 01 August 2011

Exome sequencing revealed a novel loss-of-function variant in the GLI3 transcriptional activator 2 domain underlies nonsyndromic postaxial polydactyly

scientific article published on 21 May 2019

Exome sequencing revealed a novel nonsense variant in ALX3 gene underlying frontorhiny.

scientific article

First direct evidence of involvement of a homozygous loss-of-function variant in the EPS15L1 gene underlying split-hand/split-foot malformation.

scientific article published on 10 October 2017

Further confirmation of the association of SLC12A2 with non-syndromic autosomal-dominant hearing impairment

scientific article published in 2021

Genetic analysis of Xp22.3 micro-deletions in seventeen families segregating isolated form of X-linked ichthyosis

scientific article published on 28 September 2015

Genetic mapping of a novel hypotrichosis locus to chromosome 7p21.3-p22.3 in a Pakistani family and screening of the candidate genes

scientific article published on 11 June 2010

Genetic mapping of an autosomal recessive postaxial polydactyly type A to chromosome 13q13.3-q21.2 and screening of the candidate genes

scientific article published on 30 August 2011

Genetics of human isolated acromesomelic dysplasia.

scientific article published on 26 February 2016

Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment

scientific article

Homozygous XYLT2 variants as a cause of spondyloocular syndrome

scientific article published on 14 November 2017

Homozygous sequence variants in the FKBP10 gene underlie osteogenesis imperfecta in consanguineous families

scientific article published on 05 November 2015

Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42

scientific article

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

scientific article published on 6 October 2009

Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89

scientific article

Mutations in WDR62 gene in Pakistani families with autosomal recessive primary microcephaly

scientific article

Novel autosomal recessive LAMA3 and PLEC variants underlie junctional epidermolysis bullosa generalized intermediate and epidermolysis bullosa simplex with muscular dystrophy in two consanguineous families

scientific article published on 23 May 2018

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

scientific article

Novel heterozygous sequence variant in the GLI1 underlies postaxial polydactyly

scientific article published on 17 October 2019

Novel homozygous mutations in the genes ARL6 and BBS10 underlying Bardet-Biedl syndrome

scientific article published on 6 December 2012

Novel homozygous sequence variants in the CDH3 gene encoding P-cadherin underlying hypotrichosis with juvenile macular dystrophy in consanguineous families.

scientific article published on 25 July 2016

Novel missense and 3'-UTR splice site variants in LHFPL5 cause autosomal recessive nonsyndromic hearing impairment

scientific article published on 03 September 2018

Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families

article

Novel sequence variants in the LIPH and LPAR6 genes underlies autosomal recessive woolly hair/hypotrichosis in consanguineous families.

scientific article

Novel sequence variants in the MKKS gene cause Bardet-Biedl syndrome with intra- and inter-familial variable phenotypes.

scientific article published on 12 December 2017

Recurrent mutations in functionally-related EDA and EDAR genes underlie X-linked isolated hypodontia and autosomal recessive hypohidrotic ectodermal dysplasia

scientific article published on 24 June 2009

Sequence variants in GDF5 and TRPS1 underlie brachydactyly and tricho-rhino-phalangeal syndrome type III

scientific article published on 13 February 2018

Sequence variants in the EDAR gene causing hypohidrotic ectodermal dysplasia

scientific article published on 22 August 2018

Whole-exome sequencing revealed a nonsense mutation in STKLD1 causing non-syndromic pre-axial polydactyly type A affecting only upper limb

scientific article published on 22 April 2019

Whole-genome SNP genotyping mapped a novel locus for hereditary hypotrichosis on chromosome 2q31.1-q32.2.

scientific article published on 6 May 2015

Woodhouse-Sakati syndrome in a family is associated with a homozygous start loss mutation in the DCAF17 gene

scientific article published on 28 August 2019

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