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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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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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Current updates on genetic spectrum of usher syndrome

Nucleosides, nucleotides & nucleic acids, 2024-05, p.1-24

2024

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Secured Dynamic Request Scheduling and Optimal CSP Selection for Analyzing Cloud Service Performance Using Intelligent Approaches

IEEE access, 2023, Vol.11, p.140914-140933

2023

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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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Machine Learning Approach to Classification of Online Users by Exploiting Information Seeking Behavior

IEEE access, 2024, Vol.12, p.53234-53249

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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The molecular genetics of UV-Sensitive syndrome: A rare dermal anomaly

Journal of the Pakistan Medical Association, 2021-10, Vol.71 (10), p.2391-2396

2021

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A clinical and molecular characterization of a Pakistani family with multicentric osteolysis, nodulosis and arthropathy (MONA) syndrome

Bone Reports, 2024-09, Vol.22, p.101789, Article 101789

2024

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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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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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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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Genetics of Human Isolated Acromesomelic Dysplasia

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

2016

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A GHRHR founder mutation causes isolated growth hormone deficiency type IV in a consanguineous Pakistani family

Frontiers in endocrinology (Lausanne), 2023-03, Vol.14, p.1066182-1066182

2023

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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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Lumateperone Interact with S-Protein of Ebola Virus and TIM-1 of Human Cell Membrane: Insights from Computational Studies

Applied sciences, 2022-09, Vol.12 (17), p.8820

2022

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Computational analyses of RPIA gene mutation causing Ribose-5-phosphate isomerase deficiency: a rarest known metabolic disorder in humans

Journal of Taibah University for Science, 2023-12, Vol.17 (1)

2023

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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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Mutation Analysis of a Pakistani Oculocutaneous Albinism Family Identifies a Novel Splice Site Defect in OCA2 Gene

Pakistan journal of zoology, 2022-06, Vol.54 (3), p.1215

2022

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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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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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A novel homozygous TSGA10 missense variant causes acephalic spermatozoa syndrome in a Pakistani family

Basic and clinical andrology, 2024-02, Vol.34 (1), p.4-4, Article 4

2024

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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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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

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

Current updates on genetic spectrum of usher syndrome

Secured Dynamic Request Scheduling and Optimal CSP Selection for Analyzing Cloud Service Performance Using Intelligent Approaches

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

Machine Learning Approach to Classification of Online Users by Exploiting Information Seeking Behavior

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

The molecular genetics of UV-Sensitive syndrome: A rare dermal anomaly

A clinical and molecular characterization of a Pakistani family with multicentric osteolysis, nodulosis and arthropathy (MONA) syndrome

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

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

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

Genetics of Human Isolated Acromesomelic Dysplasia

A GHRHR founder mutation causes isolated growth hormone deficiency type IV in a consanguineous Pakistani family

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

Lumateperone Interact with S-Protein of Ebola Virus and TIM-1 of Human Cell Membrane: Insights from Computational Studies

Computational analyses of RPIA gene mutation causing Ribose-5-phosphate isomerase deficiency: a rarest known metabolic disorder in humans

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

Mutation Analysis of a Pakistani Oculocutaneous Albinism Family Identifies a Novel Splice Site Defect in OCA2 Gene

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

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

A novel homozygous TSGA10 missense variant causes acephalic spermatozoa syndrome in a Pakistani family

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

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