Sumita Danda

Vellore, TN, India

Last Updated: 09/26/2026

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 152 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

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

Clinical characteristics and genetic findings of Melnick-Needles syndrome due to mutation of FLNA and the genetic counselling challenges experienced: a rare report from a tertiary care centre in South India.

Clinical characteristics and genetic findings of Melnick-Needles syndrome due to mutation of FLNA and the genetic counselling challenges experienced: a rare report from a tertiary care centre in South India.

Journal: BMJ case reports
Published: August 01, 2025

Genetic predisposition and the impact of missense genetic variants on the structural and functional protein dynamics in idiopathic pulmonary fibrosis.

Genetic predisposition and the impact of missense genetic variants on the structural and functional protein dynamics in idiopathic pulmonary fibrosis.

Journal: Lung India : official organ of Indian Chest Society
Published: July 07, 2025

Corrigendum to "SERPINF1 gene variants causing late-onset progressive deforming osteogenesis imperfecta - A study of 18 patients from India" [Bone Rep. 2023 May 26;18:101690. doi: 10.1016/j.bonr.2023.101690].

Corrigendum to "SERPINF1 gene variants causing late-onset progressive deforming osteogenesis imperfecta - A study of 18 patients from India" [Bone Rep. 2023 May 26;18:101690. doi: 10.1016/j.bonr.2023.101690].

Journal: Bone reports
Published: April 03, 2025

Very long-chain acyl-coenzyme A dehydrogenase deficiency -A rare monogenic steatotic liver disease presenting with acute liver injury in adulthood: A case report and brief review on nutrition management.

Very long-chain acyl-coenzyme A dehydrogenase deficiency -A rare monogenic steatotic liver disease presenting with acute liver injury in adulthood: A case report and brief review on nutrition management.

Journal: Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology
Published: February 11, 2025

Health-related quality of life (HRQoL) and its predictors among patients with Idiopathic pulmonary fibrosis attending a tertiary care setting in Southern India.

Health-related quality of life (HRQoL) and its predictors among patients with Idiopathic pulmonary fibrosis attending a tertiary care setting in Southern India.

Journal: Lung India : official organ of Indian Chest Society
Published: November 28, 2024

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

Investigating Trends and Challenges in Prenatal Diagnosis of Monogenic Conditions in India-An LMIC Setting-Over Half a Decade.

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.

PRRT 2-Related Epilepsy: From Self-Limited Infantile Epilepsy to Atypical Epilepsy Phenotypes.

Journal: Neurology. Genetics
Published: November 04, 2024

Broadening the Phenotypic Range: KCNJ2 Variant Linked to Isolated Periodic Paralysis with Fixed Myopathy.

Broadening the Phenotypic Range: KCNJ2 Variant Linked to Isolated Periodic Paralysis with Fixed Myopathy.

Journal: Annals of Indian Academy of Neurology
Published: October 31, 2024

A seven-year retrospective cohort study on non-immune foetal hydrops from a single centre in an LMIC setting.

A seven-year retrospective cohort study on non-immune foetal hydrops from a single centre in an LMIC setting.

Journal: Journal of perinatal medicine
Published: October 30, 2024
Showing 1-12 of 152

Last Updated: 09/26/2026