Lista de obras -

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

artículo científico publicado en 2017

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

artículo científico publicado en 2009

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

artículo científico publicado en 2011

A novel WDR62 mutation causes primary microcephaly in a Pakistani family

artículo científico publicado en 2012

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

artículo científico publicado en 2012

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

artículo científico publicado en 2011

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

artículo científico publicado en 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.

artículo científico publicado en 2018

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

artículo científico publicado en 2017

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

artículo científico publicado en 2015

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

artículo científico publicado en 2008

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.

artículo científico publicado en 2011

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

artículo científico publicado en 2021

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

artículo científico publicado en 2012

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

artículo científico publicado en 2017

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

artículo científico publicado en 2011

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

artículo científico publicado en 2019

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

artículo científico publicado en 2017

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

artículo científico publicado en 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

artículo científico publicado en 2015

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

artículo científico publicado en 2010

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

artículo científico publicado en 2011

Genetics of human isolated acromesomelic dysplasia.

artículo científico publicado en 2016

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

artículo científico publicado en 2010

Homozygous XYLT2 variants as a cause of spondyloocular syndrome

artículo científico publicado en 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

artículo científico publicado en 2011

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

artículo científico publicado en 2009

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

artículo científico publicado en 2013

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

artículo científico publicado en 2011

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.

artículo científico publicado en 2011

Novel heterozygous sequence variant in the GLI1 underlies postaxial polydactyly

artículo científico publicado en 2019

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

artículo científico publicado en 2012

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

artículo científico publicado en 2016

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

artículo científico publicado en 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.

artículo científico publicado en 2017

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

artículo científico publicado en 2017

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

artículo científico publicado en 2009

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

artículo científico publicado en 2018

Sequence variants in the EDAR gene causing hypohidrotic ectodermal dysplasia

artículo científico publicado en 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.

artículo científico publicado en 2015

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

artículo científico publicado en 2019

Lista de obras de

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

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

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

A novel WDR62 mutation causes primary microcephaly in a Pakistani family

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Genetics of human isolated acromesomelic dysplasia.

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

Homozygous XYLT2 variants as a cause of spondyloocular syndrome

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

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

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

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

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

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

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

Novel heterozygous sequence variant in the GLI1 underlies postaxial polydactyly

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

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

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

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

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

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

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

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

Sequence variants in the EDAR gene causing hypohidrotic ectodermal dysplasia

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

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

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