Frenny J. Sheth

Jodhpur Village Road
Jodhpur, GJ, India

Last Updated: 09/26/2026

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Found 69 publications

Clinical, biochemical and molecular spectrum of acute neuronopathic type 2 Gaucher disease from India.

Clinical, biochemical and molecular spectrum of acute neuronopathic type 2 Gaucher disease from India.

Journal: BMC pediatrics
Published: April 02, 2026

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

Genetic diversity of infertile males in India.

Genetic diversity of infertile males in India.

Journal: Journal of assisted reproduction and genetics
Published: October 13, 2025

Unravelling ring chromosome structures and formation mechanisms by short-read and long-read genomic sequencing.

Unravelling ring chromosome structures and formation mechanisms by short-read and long-read genomic sequencing.

Journal: Genetics in medicine open
Published: June 09, 2025

Genotype-Phenotype Correlation Through Breakpoint Characterization of a Genomically Balanced Complex Chromosomal Rearrangement Using Long Read Sequencing.

Genotype-Phenotype Correlation Through Breakpoint Characterization of a Genomically Balanced Complex Chromosomal Rearrangement Using Long Read Sequencing.

Journal: American journal of medical genetics. Part A
Published: May 22, 2025

Long read whole genome sequencing-based discovery of structural variants and their role in aetiology of non-syndromic autism spectrum disorder in India.

Long read whole genome sequencing-based discovery of structural variants and their role in aetiology of non-syndromic autism spectrum disorder in India.

Journal: BMC medical genomics
Published: March 08, 2025

Prenatal diagnosis of rare genetic disorders: fourteen years' experience of a tertiary genetic centre from India.

Prenatal diagnosis of rare genetic disorders: fourteen years' experience of a tertiary genetic centre from India.

Journal: Orphanet journal of rare diseases
Published: November 09, 2024

Complex chromosomal rearrangements in female carriers experiencing recurrent pregnancy loss or poor obstetric history and literature review.

Complex chromosomal rearrangements in female carriers experiencing recurrent pregnancy loss or poor obstetric history and literature review.

Journal: Journal of assisted reproduction and genetics
Published: September 11, 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

48th annual meeting and international conference of the Indian Society of Human Genetics 2024: fostering collaborations within rare disease research community.

48th annual meeting and international conference of the Indian Society of Human Genetics 2024: fostering collaborations within rare disease research community.

Journal: The Lancet regional health. Southeast Asia
Published: February 08, 2024
Showing 1-12 of 69

Last Updated: 09/26/2026