Muhammad Jameel

Faisalabad, PB, Pakistan

Last Updated: 09/26/2026

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Found 11 publications

A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome.

A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome.

Journal: Clinical genetics

Published: May 24, 2021

A recurrent rare intronic variant in CAPN3 alters mRNA splicing and causes autosomal recessive limb-girdle muscular dystrophy-1 in three Pakistani pedigrees.

A recurrent rare intronic variant in CAPN3 alters mRNA splicing and causes autosomal recessive limb-girdle muscular dystrophy-1 in three Pakistani pedigrees.

Journal: American journal of medical genetics. Part A

Published: April 27, 2021

Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ.

Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ.

Journal: Genes

Published: April 16, 2021

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies.

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: March 19, 2021

Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia.

Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: January 14, 2019

Mutations of KIF14 cause primary microcephaly by impairing cytokinesis.

Mutations of KIF14 cause primary microcephaly by impairing cytokinesis.

Journal: Annals of neurology

Published: May 09, 2017

Homozygosity for a missense variant in COMP gene associated with severe pseudoachondroplasia.

Homozygosity for a missense variant in COMP gene associated with severe pseudoachondroplasia.

Journal: Clinical genetics

Published: April 26, 2017

Altered paracellular cation permeability due to a rare CLDN10B variant causes anhidrosis and kidney damage.

Altered paracellular cation permeability due to a rare CLDN10B variant causes anhidrosis and kidney damage.

Journal: PLoS genetics

Published: December 05, 2016

Whole exome sequencing identifies LRP1 as a pathogenic gene in autosomal recessive keratosis pilaris atrophicans.

Whole exome sequencing identifies LRP1 as a pathogenic gene in autosomal recessive keratosis pilaris atrophicans.

Journal: Journal of medical genetics

Published: December 12, 2014

CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly.

CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly.

Journal: Human molecular genetics

Published: August 07, 2013

Novel missense mutation in the RSPO4 gene in congenital hyponychia and evidence for a polymorphic initiation codon (p.M1I).

Novel missense mutation in the RSPO4 gene in congenital hyponychia and evidence for a polymorphic initiation codon (p.M1I).

Journal: BMC medical genetics

Published: July 13, 2012

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Last Updated: 09/26/2026