Jayesh J. Sheth
Ahmedabad, UP, India
Last Updated: 09/26/2026
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Found 78 publications
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.
Journal: Journal of assisted reproduction and genetics
Published: October 13, 2025
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.
Journal: BMC medical genomics
Published: March 08, 2025
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.
Journal: Journal of assisted reproduction and genetics
Published: September 11, 2024
KBG Syndrome in 16 Indian Individuals.
Journal: American journal of medical genetics. Part A
Published: June 17, 2024
Maculopathy and adult-onset ataxia in patients with biallelic MFSD8 variants.
Journal: Molecular genetics & genomic medicine
Published: May 16, 2024
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.
Journal: Human genomics
Published: March 05, 2024
Last Updated: 09/26/2026