0000-0002-6376-8071 Employment
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Publications (27)
- Prevalence and carrier frequency of Canavan disease in a South Indian community with implications for research and public health Save
- A Novel Presentation and Variable Phenotypic Spectrum of Homozygous Start‐Loss Variant in LYRM7‐Associated Mitochondrial Complex III Deficiency Save
- 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 Save
- Investigating Trends and Challenges in Prenatal Diagnosis of Monogenic Conditions in India—An LMIC Setting—Over Half a Decade Save
- Blended Phenotypes From a SERPINA 11 Pathogenic Variant Over Underlying Immune Fetal Hydrops: A Rare Case Report and Literature Review Save
- Exploring the clinical utility of exome sequencing/Mono, Duo, Trio in prenatal testing: a retrospective study in a tertiary care centre in South India Save
- High carrier frequency of CYP21A2 gene mutations in Southern India - underscoring the need for genetic testing in Congenital Adrenal Hyperplasia. Save
- Cardiac Involvement in Pediatric Mucopolysaccharidoses Patients and their Genetic Profile: A Retrospective Single-center Study Save
- Focused panel sequencing points to genetic predisposition in non-cirrhotic intrahepatic portal hypertension patients in India. Save
- Impact of maternal iron deficiency anemia on fetal iron status and placental iron transporters in human pregnancy Save