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Mutations in the Alpha 1,2-Mannosidase Gene, MAN1B1, Cause Autosomal-Recessive Intellectual Disability

American journal of human genetics, 2011-07, Vol.89 (1), p.176-182

2011

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A homozygous ARMC3 splicing variant causes asthenozoospermia and flagellar disorganization in a consanguineous family

Clinical genetics, 2024-10, Vol.106 (4), p.437-447

2024

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Mutation screening of multiple Pakistani MCPH families revealed novel and recurrent protein‐truncating mutations of ASPM

Biotechnology and applied biochemistry, 2022-12, Vol.69 (6), p.2296-2303

2022

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Exome Sequencing Identified Molecular Determinants of Retinal Dystrophies in Nine Consanguineous Pakistani Families

Genes, 2022-09, Vol.13 (9), p.1630

2022

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Autosomal recessive variants c.953A>C and c.97-1G>C in NSUN2 causing intellectual disability: a molecular dynamics simulation study of loss-of-function mechanisms

Frontiers in neurology, 2023-05, Vol.14, p.1168307-1168307

2023

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Homozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl syndrome

BMC medical genetics, 2016-02, Vol.17 (1), p.10-10, Article 10

2016

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A novel mutation in homeobox DNA binding domain of HOXC13 gene underlies pure hair and nail ectodermal dysplasia (ECTD9) in a Pakistani family

BMC medical genetics, 2017-04, Vol.18 (1), p.42-42, Article 42

2017

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Genetics of Human Isolated Acromesomelic Dysplasia

European journal of medical genetics, 2016-04, Vol.59 (4), p.198-203

2016

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Genetic studies of multiple consanguineous Pakistani families segregating oculocutaneous albinism identified novel and reported mutations

Annals of human genetics, 2019-07, Vol.83 (4), p.278-284

2019

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Exome sequence analysis in consanguineous Pakistani families inheriting Bardet‐Biedle syndrome determined founder effect of mutation c.299delC (p.Ser100Leufs24) in BBS9 gene

Molecular genetics & genomic medicine, 2019-08, Vol.7 (8), p.e834-n/a

2019

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Identification of Four Novel Candidate Genes for Non-syndromic Intellectual Disability in Pakistani Families

Biochemical genetics, 2024-08, Vol.62 (4), p.2571-2586

2024

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A novel protein truncating mutation in L2HGDH causes L-2-hydroxyglutaric aciduria in a consanguineous Pakistani family

Metabolic brain disease, 2022-01, Vol.37 (1), p.243-252

2022

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Outcome associated with EPCAM founder mutation c.499dup in Qatar

European journal of medical genetics, 2020-10, Vol.63 (10), p.104023-104023, Article 104023

2020

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Genetic analysis of consanguineous families presenting with congenital ocular defects

Experimental eye research, 2016-05, Vol.146, p.163-171

2016

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Molecular genetic analysis of consanguineous families with primary microcephaly identified pathogenic variants in the ASPM gene

Journal of genetics, 2017-06, Vol.96 (2), p.383-387

2017

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Genetic analysis of a consanguineous Pakistani family with Leber congenital amaurosis identifies a novel mutation in GUCY2D gene

Journal of genetics, 2014-08, Vol.93 (2), p.527-530

2014

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MATERNAL CONSANGUINITY: THE MOST PROBABLE CAUSATIVE FACTOR OF GENETIC EYE DISORDERS

Gomal journal of medical sciences, 2017-01, Vol.14 (3)

2017

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MATERNAL CONSANGUINITY: THE MOST PROBABLE CAUSATIVE FACTOR OF GENETIC EYE DISORDERS

Gomal journal of medical sciences, 2016-09, Vol.14 (3), p.145

2016

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A novel deletion mutation in the TUSC3 gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disability

BMC medical genetics, 2011-04, Vol.12 (1), p.56-56, Article 56

2011

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Mutations in the Alpha 1,2-Mannosidase Gene, MAN1B1, Cause Autosomal-Recessive Intellectual Disability

A homozygous ARMC3 splicing variant causes asthenozoospermia and flagellar disorganization in a consanguineous family

Mutation screening of multiple Pakistani MCPH families revealed novel and recurrent protein‐truncating mutations of ASPM

Exome Sequencing Identified Molecular Determinants of Retinal Dystrophies in Nine Consanguineous Pakistani Families

Autosomal recessive variants c.953A>C and c.97-1G>C in NSUN2 causing intellectual disability: a molecular dynamics simulation study of loss-of-function mechanisms

Homozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl syndrome

A novel mutation in homeobox DNA binding domain of HOXC13 gene underlies pure hair and nail ectodermal dysplasia (ECTD9) in a Pakistani family

Genetics of Human Isolated Acromesomelic Dysplasia

Genetic studies of multiple consanguineous Pakistani families segregating oculocutaneous albinism identified novel and reported mutations

Exome sequence analysis in consanguineous Pakistani families inheriting Bardet‐Biedle syndrome determined founder effect of mutation c.299delC (p.Ser100Leufs24) in BBS9 gene

Identification of Four Novel Candidate Genes for Non-syndromic Intellectual Disability in Pakistani Families

A novel protein truncating mutation in L2HGDH causes L-2-hydroxyglutaric aciduria in a consanguineous Pakistani family

Outcome associated with EPCAM founder mutation c.499dup in Qatar

Genetic analysis of consanguineous families presenting with congenital ocular defects

Molecular genetic analysis of consanguineous families with primary microcephaly identified pathogenic variants in the ASPM gene

Genetic analysis of a consanguineous Pakistani family with Leber congenital amaurosis identifies a novel mutation in GUCY2D gene

MATERNAL CONSANGUINITY: THE MOST PROBABLE CAUSATIVE FACTOR OF GENETIC EYE DISORDERS

MATERNAL CONSANGUINITY: THE MOST PROBABLE CAUSATIVE FACTOR OF GENETIC EYE DISORDERS

A novel deletion mutation in the TUSC3 gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disability

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