Shruti Bajaj

SV Road, Malad West
Mumbai, MH, India

Last Updated: 09/26/2026

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Found 21 publications

Development of national biobank for lysosomal storage disorders in India- a step towards advancing research and precision medicine.

Development of national biobank for lysosomal storage disorders in India- a step towards advancing research and precision medicine.

Journal: Orphanet journal of rare diseases

Published: October 31, 2025

Telegenetics in India: A 3-year review of 938 appointments and patient-clinician perspectives.

Telegenetics in India: A 3-year review of 938 appointments and patient-clinician perspectives.

Journal: Journal of genetic counseling

Published: May 21, 2025

Prospective study to analyze the yield and clinical impact of trio exome sequencing in 137 Indian children with autism spectrum disorder.

Prospective study to analyze the yield and clinical impact of trio exome sequencing in 137 Indian children with autism spectrum disorder.

Journal: Journal of human genetics

Published: April 19, 2025

Biallelic Variant, c.644-13_644-9del in UNC50 Is Associated With Congenital Myasthenia Syndrome.

Biallelic Variant, c.644-13_644-9del in UNC50 Is Associated With Congenital Myasthenia Syndrome.

Journal: American journal of medical genetics. Part A

Published: January 08, 2025

Genetic and allelic heterogeneity in 248 Indians with skeletal dysplasia.

Genetic and allelic heterogeneity in 248 Indians with skeletal dysplasia.

Journal: European journal of human genetics : EJHG

Published: July 01, 2024

KBG Syndrome in 16 Indian Individuals.

KBG Syndrome in 16 Indian Individuals.

Journal: American journal of medical genetics. Part A

Published: June 17, 2024

Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.

Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.

Journal: Orphanet journal of rare diseases

Published: April 18, 2024

Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India.

Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India.

Journal: Human genomics

Published: March 05, 2024

Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature.

Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature.

Journal: JIMD reports

Published: October 04, 2023

De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India.

De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India.

Journal: European journal of human genetics : EJHG

Published: June 29, 2023

Comparative yield of molecular diagnostic algorithms for autism spectrum disorder diagnosis in India: evidence supporting whole exome sequencing as first tier test.

Comparative yield of molecular diagnostic algorithms for autism spectrum disorder diagnosis in India: evidence supporting whole exome sequencing as first tier test.

Journal: BMC neurology

Published: May 18, 2023

Dopa-Responsive Dystonia: An Early Presentation of Ataxia-Telangiectasia.

Dopa-Responsive Dystonia: An Early Presentation of Ataxia-Telangiectasia.

Journal: Annals of Indian Academy of Neurology

Published: August 10, 2022

Showing 1-12 of 21

Last Updated: 09/26/2026