Rekha Aaron
Vellore, TN, India
Last Updated: 09/26/2026
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Found 17 publications
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
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
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
Investigating Trends and Challenges in Prenatal Diagnosis of Monogenic Conditions in India-An LMIC Setting-Over Half a Decade.
Journal: Prenatal diagnosis
Published: November 19, 2024
PRRT 2-Related Epilepsy: From Self-Limited Infantile Epilepsy to Atypical Epilepsy Phenotypes.
Journal: Neurology. Genetics
Published: November 04, 2024
A Novel Presentation and Variable Phenotypic Spectrum of Homozygous Start-Loss Variant in LYRM7-Associated Mitochondrial Complex III Deficiency.
Journal: American journal of medical genetics. Part A
Published: October 29, 2024
Phenotype and Genotype of Children with ALS2 gene-Related Disorder.
Journal: Neuropediatrics
Published: October 18, 2024
Association of C4 Null Alleles and Persistently Low C4 in Asian Indian Patients With Systemic Lupus Erythematosus.
Journal: International journal of immunogenetics
Published: October 15, 2024
A rare variant c.1802T>C (p. Ile601Thr) associated with severe phenotype among people with cystic fibrosis from south India, and potential genetic admixture in Réunion, France.
Journal: Pediatric pulmonology
Published: December 19, 2023
CFTR mutations and phenotypic correlations in people with cystic fibrosis: a retrospective study from a single centre in south India.
Journal: The Lancet regional health. Southeast Asia
Published: September 11, 2023
Focused panel sequencing points to genetic predisposition in non-cirrhotic intrahepatic portal hypertension patients in India.
Journal: Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology
Published: April 30, 2023
Identification of DPYD variants and estimation of uracil and dihydrouracil in a healthy Indian population.
Journal: Personalized medicine
Published: November 23, 2022
Last Updated: 09/26/2026