Muzammil A. Khan

Dera Ismail Khan, KP 29050, Pakistan

Last Updated: 09/26/2026

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Found 59 publications

Mutation mapping and functional characterization of a missense mutation p.Arg228Cys in ALDH3A2 gene causing Sjögran-Larson syndrome.

Mutation mapping and functional characterization of a missense mutation p.Arg228Cys in ALDH3A2 gene causing Sjögran-Larson syndrome.

Journal: Molecular biology reports

Published: March 04, 2026

Potentially Deleterious Nonsynonymous Single Nucleotide Polymorphisms (nsSNPs) in the Human MCPH1 Gene: Systematic In Silico Predictions and Implications for Structure and Function.

Potentially Deleterious Nonsynonymous Single Nucleotide Polymorphisms (nsSNPs) in the Human MCPH1 Gene: Systematic In Silico Predictions and Implications for Structure and Function.

Journal: Human mutation

Published: October 07, 2025

Expanding the mutational spectrum of congenital microcephaly in Pakistani families.

Expanding the mutational spectrum of congenital microcephaly in Pakistani families.

Journal: Frontiers in genetics

Published: September 19, 2025

Genetic analysis in a consanguineous MCPH family revealed a refinement of the MCPH12 locus and a founder effect of the recurrent CDK6 variant [c.589G>A, p.(Ala197Thr)] in the Pakistani population.

Genetic analysis in a consanguineous MCPH family revealed a refinement of the MCPH12 locus and a founder effect of the recurrent CDK6 variant [c.589G>A, p.(Ala197Thr)] in the Pakistani population.

Journal: Journal of genetics

Published: August 13, 2025

Mutation screening of the ASPM gene in multiple Pashtun origin MCPH families revealed the recurrent nonsense mutation p.Trp1326*: A step towards the development of a genetic diagnostic test.

Mutation screening of the ASPM gene in multiple Pashtun origin MCPH families revealed the recurrent nonsense mutation p.Trp1326*: A step towards the development of a genetic diagnostic test.

Journal: Neurogenetics

Published: July 25, 2025

Expanding the ethnic and clinical spectrum of the IDS c.1122C>T mutation: first report from Pakistan.

Expanding the ethnic and clinical spectrum of the IDS c.1122C>T mutation: first report from Pakistan.

Journal: Neurogenetics

Published: July 01, 2025

Protein truncating splice site variant in ALDH1A3 associated with bilateral anophthalmia identified in a multiplex consanguineous Pakistani family.

Protein truncating splice site variant in ALDH1A3 associated with bilateral anophthalmia identified in a multiplex consanguineous Pakistani family.

Journal: International journal of ophthalmology

Published: March 11, 2025

A novel protein truncating mutation of TTC8 causes Bardet-Biedl Syndrome (BBS) in a Pakistani family.

A novel protein truncating mutation of TTC8 causes Bardet-Biedl Syndrome (BBS) in a Pakistani family.

Journal: Genetics and molecular biology

Published: February 13, 2025

Genetic Studies on Multiple Consanguineous Families Segregating Diverse Phenotypes of Microphthalmia Identified Novel and Recurrent Mutations.

Genetic Studies on Multiple Consanguineous Families Segregating Diverse Phenotypes of Microphthalmia Identified Novel and Recurrent Mutations.

Journal: Current medicinal chemistry

Published: November 10, 2024

Identification of a Protein-truncating Variant in SCAPER Gene Causing Syndromic form of Intellectual Disability.

Identification of a Protein-truncating Variant in SCAPER Gene Causing Syndromic form of Intellectual Disability.

Journal: Current medicinal chemistry

Published: November 08, 2024

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

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

Journal: Bone reports

Published: May 03, 2024

A homozygous nonsense variant in HENMT1 causes male infertility in humans and mice.

A homozygous nonsense variant in HENMT1 causes male infertility in humans and mice.

Journal: Andrology

Published: April 26, 2024

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Last Updated: 09/26/2026