Periasamy Sundaresan

Madurai, TN, India

Last Updated: 09/26/2026

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Found 54 publications

A novel 5bp deletion in HPS4 gene associates with Hermansky-Pudlak Syndrome.

A novel 5bp deletion in HPS4 gene associates with Hermansky-Pudlak Syndrome.

Journal: Ophthalmic genetics

Published: May 18, 2025

Genotypic and phenotypic diversity in X-linked retinoschisis: Findings from a South Indian patient cohort.

Genotypic and phenotypic diversity in X-linked retinoschisis: Findings from a South Indian patient cohort.

Journal: Indian journal of ophthalmology

Published: September 15, 2023

Exploring mito-nuclear genetic factors in Leber's hereditary optic neuropathy: insights from comprehensive profiling of unique cases.

Exploring mito-nuclear genetic factors in Leber's hereditary optic neuropathy: insights from comprehensive profiling of unique cases.

Journal: EXCLI journal

Published: July 03, 2023

Myocilin Mutation N480K Leads to Early Onset Juvenile and Adult-onset Primary Open Angle Glaucoma in a Six Generation Family.

Myocilin Mutation N480K Leads to Early Onset Juvenile and Adult-onset Primary Open Angle Glaucoma in a Six Generation Family.

Journal: Journal of glaucoma

Published: May 25, 2023

Genetic implications of CHST6 gene mutations and their corneal microstructural changes in macular corneal dystrophy patients.

Genetic implications of CHST6 gene mutations and their corneal microstructural changes in macular corneal dystrophy patients.

Journal: Molecular vision

Published: March 27, 2023

A new entity of hypomyelination with atrophy of basal ganglia and cerebellum-like syndrome with bilateral developmental cataract.

A new entity of hypomyelination with atrophy of basal ganglia and cerebellum-like syndrome with bilateral developmental cataract.

Journal: Indian journal of ophthalmology

Published: July 06, 2022

Clinical reassessments and whole-exome sequencing uncover novel BEST1 mutation associated with bestrophinopathy phenotype.

Clinical reassessments and whole-exome sequencing uncover novel BEST1 mutation associated with bestrophinopathy phenotype.

Journal: Ophthalmic genetics

Published: November 09, 2021

Variants in the Wnt co-receptor LRP6 are associated with familial exudative vitreoretinopathy.

Variants in the Wnt co-receptor LRP6 are associated with familial exudative vitreoretinopathy.

Journal: Journal of genetics and genomics = Yi chuan xue bao

Published: August 30, 2021

Whole-exome sequencing identifies multiple pathogenic variants in a large South Indian family with primary open-angle glaucoma.

Whole-exome sequencing identifies multiple pathogenic variants in a large South Indian family with primary open-angle glaucoma.

Journal: Indian journal of ophthalmology

Published: August 24, 2021

Mutation profile of neurodegenerative mitochondriopathy - LHON in Southern India.

Mutation profile of neurodegenerative mitochondriopathy - LHON in Southern India.

Journal: Gene

Published: July 13, 2021

Whole-Exome Sequencing Reveals Novel TSPAN12 Variants in Autosomal Dominant Familial Exudative Vitreoretinopathy.

Whole-Exome Sequencing Reveals Novel TSPAN12 Variants in Autosomal Dominant Familial Exudative Vitreoretinopathy.

Journal: Genetic testing and molecular biomarkers

Published: June 02, 2021

A hospital-based five-year prospective study on the prevalence of Leber's hereditary optic neuropathy with genetic confirmation.

A hospital-based five-year prospective study on the prevalence of Leber's hereditary optic neuropathy with genetic confirmation.

Journal: Molecular vision

Published: July 08, 2020

Showing 1-12 of 54

Last Updated: 09/26/2026