Aaron Chapla

Ida Scudder Road
Vellore, TN, India

Last Updated: 09/26/2026

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Found 45 publications

An Integrated Whole-Genome Sequencing and In-House Targeted Testing Strategy Enhances Comprehensive Mutation Detection in Neurofibromatosis Type 1.

An Integrated Whole-Genome Sequencing and In-House Targeted Testing Strategy Enhances Comprehensive Mutation Detection in Neurofibromatosis Type 1.

Journal: Annals of Indian Academy of Neurology

Published: February 11, 2026

Novel PNPLA6 Variants: Hypogonadotropic Hypogonadism, Pituitary Hypoplasia, Anosmia, and Cerebellar Atrophy in Siblings.

Novel PNPLA6 Variants: Hypogonadotropic Hypogonadism, Pituitary Hypoplasia, Anosmia, and Cerebellar Atrophy in Siblings.

Journal: JCEM case reports

Published: August 27, 2025

Profile of cystic fibrosis transmembrane conductance regulator (CFTR) gene variants across India and their variability in different geographic regions.

Profile of cystic fibrosis transmembrane conductance regulator (CFTR) gene variants across India and their variability in different geographic regions.

Journal: Gene

Published: August 06, 2025

Exceptionally High Cystic Fibrosis-Related Morbidity and Mortality in Infants and Young Children in India: The Need for Newborn Screening and CF-Specific Capacity Building.

Exceptionally High Cystic Fibrosis-Related Morbidity and Mortality in Infants and Young Children in India: The Need for Newborn Screening and CF-Specific Capacity Building.

Journal: International journal of neonatal screening

Published: June 28, 2025

Response to Letter to the Editor from Finsterer "Diverse Phenotypes of Mitochondrial Disease With Varying Levels of Heteroplasmy".

Response to Letter to the Editor from Finsterer "Diverse Phenotypes of Mitochondrial Disease With Varying Levels of Heteroplasmy".

Journal: JCEM case reports

Published: May 01, 2025

Prevalence and carrier frequency of Canavan disease in a South Indian community with implications for research and public health.

Prevalence and carrier frequency of Canavan disease in a South Indian community with implications for research and public health.

Journal: Scientific reports

Published: November 27, 2024

Diverse Phenotypes of Mitochondrial Disease With Varying Levels of Heteroplasmy.

Diverse Phenotypes of Mitochondrial Disease With Varying Levels of Heteroplasmy.

Journal: JCEM case reports

Published: October 17, 2024

Advocating Targeted Sequential Screening over Whole Exome Sequencing in 21-Hydroxylase Deficiency.

Advocating Targeted Sequential Screening over Whole Exome Sequencing in 21-Hydroxylase Deficiency.

Journal: Indian journal of pediatrics

Published: June 07, 2024

A series of genetically confirmed congenital lipodystrophy and diabetes in adult southern Indian patients.

A series of genetically confirmed congenital lipodystrophy and diabetes in adult southern Indian patients.

Journal: Scientific reports

Published: April 14, 2024

Targeted Filaggrin Gene (FLG) Sequencing: A Pilot Study among Indian Children with Atopic Dermatitis.

Targeted Filaggrin Gene (FLG) Sequencing: A Pilot Study among Indian Children with Atopic Dermatitis.

Journal: Indian dermatology online journal

Published: April 04, 2024

A Novel Large Deletion in the EVER1 Gene in a Family With Epidermodysplasia Verruciformis From India.

A Novel Large Deletion in the EVER1 Gene in a Family With Epidermodysplasia Verruciformis From India.

Journal: The American Journal of dermatopathology

Published: April 04, 2024

COL1A1 and COL1A2 Gene Variants Causing Osteogenesis Imperfecta in a Major Referral Center of India.

COL1A1 and COL1A2 Gene Variants Causing Osteogenesis Imperfecta in a Major Referral Center of India.

Journal: American journal of medical genetics. Part A

Published: April 02, 2024

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Last Updated: 09/26/2026