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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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Biallelic Truncating Mutations in FMN2, Encoding the Actin-Regulatory Protein Formin 2, Cause Nonsyndromic Autosomal-Recessive Intellectual Disability

American journal of human genetics, 2014-12, Vol.95 (6), p.721-728

2014

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Oligodontia Is Caused by Mutation in LTBP3, the Gene Encoding Latent TGF-β Binding Protein 3

American journal of human genetics, 2009-04, Vol.84 (4), p.519-523

2009

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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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Whole exome sequencing identified 1 base pair novel deletion in BCL2‐associated athanogene 3 (BAG3) gene associated with severe dilated cardiomyopathy (DCM) requiring heart transplant in multiple family members

American journal of medical genetics. Part A, 2017-03, Vol.173 (3), p.699-705

2017

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Identification of Mutations in TRAPPC9, which Encodes the NIK- and IKK-β-Binding Protein, in Nonsyndromic Autosomal-Recessive Mental Retardation

American journal of human genetics, 2009-12, Vol.85 (6), p.909-915

2009

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Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment

Human molecular genetics, 2015-06, Vol.24 (11), p.3172-3180

2015

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Recurrent intragenic deletion mutation in desmoglein 4 gene underlies autosomal recessive hypotrichosis in two Pakistani families of Balochi and Sindhi origins

Archives of Dermatological Research, 2006-08, Vol.298 (3), p.135-137

2006

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Truncation of the E3 ubiquitin ligase component FBXO31 causes non-syndromic autosomal recessive intellectual disability in a Pakistani family

Human genetics, 2014-08, Vol.133 (8), p.975-984

2014

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ARG1 single nucleotide polymorphisms rs2781666 and rs2781665 confer risk of Type 2 diabetes mellitus

EXCLI journal, 2018-01, Vol.17, p.847-855

2018

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Estrogen shields women from COVID-19 complications by reducing ER stress

Medical hypotheses, 2020-10, Vol.143, p.110148-110148, Article 110148

2020

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Genetic studies of autosomal recessive primary microcephaly in 33 Pakistani families : novel sequence variants in ASPM gene

Neurogenetics, 2006-05, Vol.7 (2), p.105-110

2006

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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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A Recurrent Intragenic Deletion Mutation in DSG4 Gene in Three Pakistani Families with Autosomal Recessive Hypotrichosis

Journal of investigative dermatology, 2004-07, Vol.123 (1), p.247-248

2004

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Association analysis between ARG1 gene polymorphisms and idiopathic dilated cardiomyopathy

Medicine (Baltimore), 2019-11, Vol.98 (47), p.e17694-e17694

2019

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Greig Cephalopolysyndactyly Syndrome: Phenotypic Variability Associated with Variants in Two Different Domains of GLI3

Klinische Padiatrie, 2021-03, Vol.233 (2), p.53

2021

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KIF1A novel frameshift variant p.(Ser887Profs64) exhibits clinical heterogeneity in a Pakistani family with hereditary sensory and autonomic neuropathy type IIC

International journal of neuroscience, 2022-11, Vol.ahead-of-print (ahead-of-print), p.1-11

2022

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Effect of gasotransmitters treatment on expression of hypertension, vascular and cardiac remodeling and hypertensive nephropathy genes in left ventricular hypertrophy

Gene, 2020-05, Vol.737, p.144479-144479, Article 144479

2020

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Atrichia with papular lesions in two Pakistani consanguineous families resulting from mutations in the human hairless gene

Archives of Dermatological Research, 2005-11, Vol.297 (5), p.226-230

2005

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A novel autosomal recessive non-syndromic hearing impairment locus (DFNB47) maps to chromosome 2p25.1-p24.3

Human genetics, 2006-01, Vol.118 (5), p.605-610

2006

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A Novel Locus of Ectodermal Dysplasia Maps to Chromosome 10q24.32–q25.1

Journal of investigative dermatology, 2005-02, Vol.124 (2), p.338-342

2005

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Identification of a homozygous splice site mutation in the dynein axonemal light chain 4 gene on 22q13.1 in a large consanguineous family from Pakistan with congenital mirror movement disorder

Human genetics, 2014-11, Vol.133 (11), p.1419-1429

2014

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Three Mutations in the Bilateral Frontoparietal Polymicrogyria Gene GPR56 in Pakistani Intellectual Disability Families

Journal of pediatric genetics (Birmingham, Ala.), 2018-06, Vol.7 (2), p.060-066

2018

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

Biallelic Truncating Mutations in FMN2, Encoding the Actin-Regulatory Protein Formin 2, Cause Nonsyndromic Autosomal-Recessive Intellectual Disability

Oligodontia Is Caused by Mutation in LTBP3, the Gene Encoding Latent TGF-β Binding Protein 3

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

Whole exome sequencing identified 1 base pair novel deletion in BCL2‐associated athanogene 3 (BAG3) gene associated with severe dilated cardiomyopathy (DCM) requiring heart transplant in multiple family members

Identification of Mutations in TRAPPC9, which Encodes the NIK- and IKK-β-Binding Protein, in Nonsyndromic Autosomal-Recessive Mental Retardation

Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment

Recurrent intragenic deletion mutation in desmoglein 4 gene underlies autosomal recessive hypotrichosis in two Pakistani families of Balochi and Sindhi origins

Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability

Truncation of the E3 ubiquitin ligase component FBXO31 causes non-syndromic autosomal recessive intellectual disability in a Pakistani family

ARG1 single nucleotide polymorphisms rs2781666 and rs2781665 confer risk of Type 2 diabetes mellitus

Estrogen shields women from COVID-19 complications by reducing ER stress

Genetic studies of autosomal recessive primary microcephaly in 33 Pakistani families : novel sequence variants in ASPM gene

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

A Recurrent Intragenic Deletion Mutation in DSG4 Gene in Three Pakistani Families with Autosomal Recessive Hypotrichosis

Association analysis between ARG1 gene polymorphisms and idiopathic dilated cardiomyopathy

Mapping the NPHP-JBTS-MKS Protein Network Reveals Ciliopathy Disease Genes and Pathways

Greig Cephalopolysyndactyly Syndrome: Phenotypic Variability Associated with Variants in Two Different Domains of GLI3

KIF1A novel frameshift variant p.(Ser887Profs64) exhibits clinical heterogeneity in a Pakistani family with hereditary sensory and autonomic neuropathy type IIC

Effect of gasotransmitters treatment on expression of hypertension, vascular and cardiac remodeling and hypertensive nephropathy genes in left ventricular hypertrophy

Atrichia with papular lesions in two Pakistani consanguineous families resulting from mutations in the human hairless gene

A novel autosomal recessive non-syndromic hearing impairment locus (DFNB47) maps to chromosome 2p25.1-p24.3

A Novel Locus of Ectodermal Dysplasia Maps to Chromosome 10q24.32–q25.1

Identification of a homozygous splice site mutation in the dynein axonemal light chain 4 gene on 22q13.1 in a large consanguineous family from Pakistan with congenital mirror movement disorder

Three Mutations in the Bilateral Frontoparietal Polymicrogyria Gene GPR56 in Pakistani Intellectual Disability Families

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