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Mutation in NSUN2, which Encodes an RNA Methyltransferase, Causes Autosomal-Recessive Intellectual Disability

American journal of human genetics, 2012-05, Vol.90 (5), p.856-863

2012

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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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Alopecia‐mental retardation syndrome: Molecular genetics of a rare neuro‐dermal disorder

Annals of human genetics, 2021-09, Vol.85 (5), p.147-154

2021

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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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Exome sequence analysis identifies a homozygous, pathogenic, frameshift variant in the MAN2B1 gene underlying clinical variant of α-mannosidosis

Frontiers in genetics, 2024-08, Vol.15, p.1421943

2024

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Analysis of a non‐lethal biallelic frameshift mutation in ZMPSTE24 reveals utilization of alternative translation initiation codons

Clinical genetics, 2023-10, Vol.104 (4), p.491-496

2023

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An exceptional biallelic N-terminal frame shift mutation in ZMPSTE24 leads to non-lethal progeria due to possible utilization of a downstream alternative start codon

Gene, 2022-07, Vol.833, p.146582-146582, Article 146582

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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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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Pakistan Genetic Mutation Database (PGMD); A centralized Pakistani mutome data source

European journal of medical genetics, 2018-04, Vol.61 (4), p.204-208

2018

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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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The Expansion of the Spectrum in Stuttering Disorders to a Novel ARMC Gene Family ( ARMC3 )

Genes, 2022-12, Vol.13 (12), p.2299

2022

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Identification of GLI1 and KIAA0825 Variants in Two Families with Postaxial Polydactyly

Genes, 2023-04, Vol.14 (4), p.869

2023

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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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In Silico Analysis Identified Putative Pathogenic Missense nsSNPs in Human SLITRK1 Gene

Genes, 2022-04, Vol.13 (4), p.672

2022

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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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Homozygosity mapping coupled with whole-exome sequencing and protein modelling identified a novel missense mutation in GUCY2D in a consanguineous Pakistani family with Leber congenital amaurosis

Journal of genetics, 2021-10, Vol.100 (2), Article 57

2021

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

American journal of human genetics, 2011-08, Vol.89 (2), p.348-348

2011

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The molecular genetics of human appendicular skeleton

Molecular genetics and genomics : MGG, 2022-09, Vol.297 (5), p.1195-1214

2022

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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 homozygous missense TTC12 variant identified in an infertile Pakistani man with severe oligoasthenoteratozoospermia and primary ciliary dyskinesia

Molecular genetics and genomics : MGG, 2024-12, Vol.299 (1), p.69, Article 69

2024

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The Molecular Genetics of Autosomal Recessive Nonsyndromic Intellectual Disability: a Mutational Continuum and Future Recommendations

Annals of human genetics, 2016-11, Vol.80 (6), p.342-368

2016

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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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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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Mutation in NSUN2, which Encodes an RNA Methyltransferase, Causes Autosomal-Recessive Intellectual Disability

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

Alopecia‐mental retardation syndrome: Molecular genetics of a rare neuro‐dermal disorder

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

Exome sequence analysis identifies a homozygous, pathogenic, frameshift variant in the MAN2B1 gene underlying clinical variant of α-mannosidosis

Analysis of a non‐lethal biallelic frameshift mutation in ZMPSTE24 reveals utilization of alternative translation initiation codons

An exceptional biallelic N-terminal frame shift mutation in ZMPSTE24 leads to non-lethal progeria due to possible utilization of a downstream alternative start codon

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

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

Pakistan Genetic Mutation Database (PGMD); A centralized Pakistani mutome data source

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

The Expansion of the Spectrum in Stuttering Disorders to a Novel ARMC Gene Family ( ARMC3 )

Identification of GLI1 and KIAA0825 Variants in Two Families with Postaxial Polydactyly

Genetics of Human Isolated Acromesomelic Dysplasia

In Silico Analysis Identified Putative Pathogenic Missense nsSNPs in Human SLITRK1 Gene

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

Homozygosity mapping coupled with whole-exome sequencing and protein modelling identified a novel missense mutation in GUCY2D in a consanguineous Pakistani family with Leber congenital amaurosis

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

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

The molecular genetics of human appendicular skeleton

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

A novel homozygous missense TTC12 variant identified in an infertile Pakistani man with severe oligoasthenoteratozoospermia and primary ciliary dyskinesia

The Molecular Genetics of Autosomal Recessive Nonsyndromic Intellectual Disability: a Mutational Continuum and Future Recommendations

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

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

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