Shahid M. Baig-Mahmood

Faisalabad, PB, Pakistan

Last Updated: 09/26/2026

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Found 15 publications

A Novel MAG Variant Causes Hereditary Spastic Paraplegia in a Consanguineous Pakistani Family.

A Novel MAG Variant Causes Hereditary Spastic Paraplegia in a Consanguineous Pakistani Family.

Journal: Genes

Published: August 23, 2024

Recurrence mutation in RBBP8 gene causing non-syndromic autosomal recessive primary microcephaly; geometric simulation approach for insight into predicted computational models.

Recurrence mutation in RBBP8 gene causing non-syndromic autosomal recessive primary microcephaly; geometric simulation approach for insight into predicted computational models.

Journal: Journal of human genetics

Published: October 12, 2022

Identification of a novel variant in GPR56/ADGRG1 gene through whole exome sequencing in a consanguineous Pakistani family.

Identification of a novel variant in GPR56/ADGRG1 gene through whole exome sequencing in a consanguineous Pakistani family.

Journal: Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia

Published: June 22, 2021

A GDF5 frameshift mutation segregating with Grebe type chondrodysplasia and brachydactyly type C+ in a 6 generations family: Clinical report and mini review.

A GDF5 frameshift mutation segregating with Grebe type chondrodysplasia and brachydactyly type C+ in a 6 generations family: Clinical report and mini review.

Journal: European journal of medical genetics

Published: September 15, 2020

Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.

Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.

Journal: BMC medical genetics

Published: December 10, 2019

Identifying the reasons for delayed presentation of Pakistani breast cancer patients at a tertiary care hospital.

Identifying the reasons for delayed presentation of Pakistani breast cancer patients at a tertiary care hospital.

Journal: Cancer management and research

Published: February 19, 2019

Whole exome sequencing identifies novel variant underlying hereditary spastic paraplegia in consanguineous Pakistani families.

Whole exome sequencing identifies novel variant underlying hereditary spastic paraplegia in consanguineous Pakistani families.

Journal: Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia

Published: November 30, 2018

A novel mutation in CDK5RAP2 gene causes primary microcephaly with speech impairment and sparse eyebrows in a consanguineous Pakistani family.

A novel mutation in CDK5RAP2 gene causes primary microcephaly with speech impairment and sparse eyebrows in a consanguineous Pakistani family.

Journal: European journal of medical genetics

Published: March 30, 2017

CDK5RAP2 interaction with components of the Hippo signaling pathway may play a role in primary microcephaly.

CDK5RAP2 interaction with components of the Hippo signaling pathway may play a role in primary microcephaly.

Journal: Molecular genetics and genomics : MGG

Published: July 05, 2016

Genome-Wide Supported Risk Variants in MIR137, CACNA1C, CSMD1, DRD2, and GRM3 Contribute to Schizophrenia Susceptibility in Pakistani Population.

Genome-Wide Supported Risk Variants in MIR137, CACNA1C, CSMD1, DRD2, and GRM3 Contribute to Schizophrenia Susceptibility in Pakistani Population.

Journal: Psychiatry investigation

Published: July 04, 2016

Novel SACS mutations associated with intellectual disability, epilepsy and widespread supratentorial abnormalities.

Novel SACS mutations associated with intellectual disability, epilepsy and widespread supratentorial abnormalities.

Journal: Journal of the neurological sciences

Published: May 15, 2016

β-Thalassemia in Pakistan: a pilot program on prenatal diagnosis in Multan.

β-Thalassemia in Pakistan: a pilot program on prenatal diagnosis in Multan.

Journal: Journal of pediatric hematology/oncology

Published: January 20, 2012

Showing 1-12 of 15

Last Updated: 09/26/2026