Muhammad T. Sarwar

Peshawar, KP, Pakistan

Last Updated: 09/26/2026

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Found 17 publications

Expanding the genetic spectrum of autosomal recessive microcephaly in Pakistani families.

Expanding the genetic spectrum of autosomal recessive microcephaly in Pakistani families.

Journal: BMC neurology
Published: December 23, 2025

Identification of a Novel Homozygous SCN1B Splice-Site Variant in a Consanguineous Families With Early-Onset Epilepsy: A Case Series and Review of Literature.

Identification of a Novel Homozygous SCN1B Splice-Site Variant in a Consanguineous Families With Early-Onset Epilepsy: A Case Series and Review of Literature.

Journal: Molecular genetics & genomic medicine
Published: August 15, 2025

Genomic insights into autosomal recessive epilepsy: novel pathogenic variants in ITPA and CLN5 identified in consanguineous families.

Genomic insights into autosomal recessive epilepsy: novel pathogenic variants in ITPA and CLN5 identified in consanguineous families.

Journal: Molecular biology reports
Published: July 17, 2025

Challenges in Genomic Variant Interpretation Within Pakistani Populations due to Genomic Healthcare Inequalities.

Challenges in Genomic Variant Interpretation Within Pakistani Populations due to Genomic Healthcare Inequalities.

Journal: American journal of medical genetics. Part A
Published: January 30, 2025

Profiling genetic mutations in the DNA damage repair genes of oral squamous cell carcinoma patients from Pakistan.

Profiling genetic mutations in the DNA damage repair genes of oral squamous cell carcinoma patients from Pakistan.

Journal: Scientific reports
Published: October 22, 2024

Pathogenic variants identification in primary congenital glaucoma patients using whole exome sequencing.

Pathogenic variants identification in primary congenital glaucoma patients using whole exome sequencing.

Journal: Scientific reports
Published: July 07, 2024

Novel Missense CNTNAP2 Variant Identified in Two Consanguineous Pakistani Families With Developmental Delay, Epilepsy, Intellectual Disability, and Aggressive Behavior.

Novel Missense CNTNAP2 Variant Identified in Two Consanguineous Pakistani Families With Developmental Delay, Epilepsy, Intellectual Disability, and Aggressive Behavior.

Journal: Frontiers in neurology
Published: April 11, 2022

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.

Journal: American journal of human genetics
Published: February 25, 2020

Unpasteurised milk consumption as a potential risk factor for toxoplasmosis in females with recurrent pregnancy loss.

Unpasteurised milk consumption as a potential risk factor for toxoplasmosis in females with recurrent pregnancy loss.

Journal: Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology
Published: February 05, 2020

Biallelic variants in PSMB1 encoding the proteasome subunit β6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short stature.

Biallelic variants in PSMB1 encoding the proteasome subunit β6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short stature.

Journal: Human molecular genetics
Published: December 24, 2019

Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency.

Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency.

Journal: Human molecular genetics
Published: November 08, 2019

Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature.

Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature.

Journal: American journal of human genetics
Published: July 01, 2019
Showing 1-12 of 17

Last Updated: 09/26/2026