Shazia Maqbool

Lahore, PB, Pakistan

Last Updated: 09/26/2026

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Found 36 publications

Bi-allelic ATG12 variants impair autophagy and cause a neurodevelopmental disorder.

Bi-allelic ATG12 variants impair autophagy and cause a neurodevelopmental disorder.

Journal: American journal of human genetics

Published: October 13, 2025

Autism spectrum disorder trios from consanguineous populations are enriched for rare homozygous variants, identifying 32 new candidate genes.

Autism spectrum disorder trios from consanguineous populations are enriched for rare homozygous variants, identifying 32 new candidate genes.

Journal: Scientific reports

Published: June 12, 2025

Molecular and computational analysis of a novel pathogenic variant in emopamil-binding protein (EBP) involved in cholesterol biosynthetic pathway causing a rare male EBP disorder with neurologic defects (MEND syndrome).

Molecular and computational analysis of a novel pathogenic variant in emopamil-binding protein (EBP) involved in cholesterol biosynthetic pathway causing a rare male EBP disorder with neurologic defects (MEND syndrome).

Journal: Molecular biology reports

Published: September 20, 2024

Bi-allelic MYMX variants cause a syndromic congenital myopathy with recognizable facial palsy, growth restriction, and dysmorphism.

Bi-allelic MYMX variants cause a syndromic congenital myopathy with recognizable facial palsy, growth restriction, and dysmorphism.

Journal: European journal of human genetics : EJHG

Published: July 12, 2024

Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder.

Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder.

Journal: Brain : a journal of neurology

Published: May 16, 2024

Clinical and neurogenetic characterisation of autosomal recessive RBL2-associated progressive neurodevelopmental disorder.

Clinical and neurogenetic characterisation of autosomal recessive RBL2-associated progressive neurodevelopmental disorder.

Journal: medRxiv : the preprint server for health sciences

Published: May 15, 2024

SLK is mutated in individuals with a neurodevelopmental disorder.

SLK is mutated in individuals with a neurodevelopmental disorder.

Journal: EBioMedicine

Published: March 12, 2024

Expanding the phenotype of PPP1R21-related neurodevelopmental disorder.

Expanding the phenotype of PPP1R21-related neurodevelopmental disorder.

Journal: Clinical genetics

Published: December 20, 2023

The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.

The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.

Journal: Brain : a journal of neurology

Published: October 06, 2023

Coronary Artery Stenosis Severity in Patients With Different Coronary Artery Calcium Scores on Coronary Computed Tomography Angiography.

Coronary Artery Stenosis Severity in Patients With Different Coronary Artery Calcium Scores on Coronary Computed Tomography Angiography.

Journal: Cureus

Published: May 24, 2023

Establishing performance standards for child development: learnings from the ECDI2030.

Establishing performance standards for child development: learnings from the ECDI2030.

Journal: Journal of health, population, and nutrition

Published: April 24, 2023

TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions.

TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions.

Journal: Brain : a journal of neurology

Published: April 18, 2023

Showing 1-12 of 36

Last Updated: 09/26/2026