Sheikh A. Riazuddin

87-West Canal Bank Road
Lahore, PB, Pakistan

Last Updated: 09/26/2026

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Found 181 publications

Correction: Examining the effects of cigarette smoke on mouse lens through a multi OMIC approach.

Correction: Examining the effects of cigarette smoke on mouse lens through a multi OMIC approach.

Journal: Scientific reports

Published: July 10, 2026

Bi-allelic missense variants in human GPN2 result in Perrault syndrome.

Bi-allelic missense variants in human GPN2 result in Perrault syndrome.

Journal: American journal of human genetics

Published: March 27, 2026

Pluripotent Stem Cell-Derived Corneal Endothelial Cells Form a Functional Corneal Endothelium in Canines.

Pluripotent Stem Cell-Derived Corneal Endothelial Cells Form a Functional Corneal Endothelium in Canines.

Journal: Translational vision science & technology

Published: October 03, 2025

Author Correction: Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.

Author Correction: Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.

Journal: Nature genetics

Published: August 26, 2025

KLHL13 functional defects cause neurodevelopmental disorder in humans that can be rescued via inhibition of AURKB in cellular and animal models.

KLHL13 functional defects cause neurodevelopmental disorder in humans that can be rescued via inhibition of AURKB in cellular and animal models.

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

Published: March 07, 2025

Comprehensive genotypic, phenotypic, and biochemical characterization of GOT2 deficiency: A progressive neurodevelopmental disorder with epilepsy and abnormal movements.

Comprehensive genotypic, phenotypic, and biochemical characterization of GOT2 deficiency: A progressive neurodevelopmental disorder with epilepsy and abnormal movements.

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

Published: January 13, 2025

FYCO1 regulates autophagy and senescence via PAK1/p21 in cataract.

FYCO1 regulates autophagy and senescence via PAK1/p21 in cataract.

Journal: Archives of biochemistry and biophysics

Published: July 28, 2024

Deafness DFNB128 Associated with a Recessive Variant of Human MAP3K1 Recapitulates Hearing Loss of Map3k1-Deficient Mice.

Deafness DFNB128 Associated with a Recessive Variant of Human MAP3K1 Recapitulates Hearing Loss of Map3k1-Deficient Mice.

Journal: Genes

Published: May 21, 2024

A Missense Variant in HACE1 Is Associated with Intellectual Disability, Epilepsy, Spasticity, and Psychomotor Impairment in a Pakistani Kindred.

A Missense Variant in HACE1 Is Associated with Intellectual Disability, Epilepsy, Spasticity, and Psychomotor Impairment in a Pakistani Kindred.

Journal: Genes

Published: April 01, 2024

Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression.

Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression.

Journal: American journal of human genetics

Published: March 29, 2024

Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly.

Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly.

Journal: Communications biology

Published: January 04, 2024

Homozygous novel truncating variant of CLPP associated with severe Perrault syndrome.

Homozygous novel truncating variant of CLPP associated with severe Perrault syndrome.

Journal: Clinical genetics

Published: December 29, 2023

Showing 1-12 of 181

Last Updated: 09/26/2026