Jayesh Sheth

About

.Graduated in microbiology from Jand J Science college, post graduate from Sir H.N.Hospital,Mumbai and PhD in Biochemistry
from IRR now NIRRH-Mumbai in 1983.
Worked as research officer at Nanavaty hospital in Mumbai followed by Junior scientist at GCRI,Ahmedabad, and Associate Professor of Endocrinology and Biochemistry at Sheth V.S.Hospital and NHL Municipal medical college. Currently Hon Director at FRIGE's Institute of Human Genetics.
Main area of work in thyroid disorders, reproductive endocrinology, single gene diosrders and lysosomal storage disorders.
Has more than 90 scientific publications in national and international journal and advisers to several universities and hospitals.
Has been on editorial board on scientific journals and reviewer of many scientific journal.

Employment

• Sheth Vadilal Sarabhai General Hospital and Sheth Chinai Maternity Hospital Associate Professor
  1989 - 2008

Education

• Institute for Research In Reproduction PhD
  1979 - 1983

Projects & Funding

Projects & funding information is unavailable.

Publications (20)

• Clinical, biochemical and molecular spectrum of acute neuronopathic type 2 Gaucher disease from India
  BMC Pediatrics 2026 DOI: 10.1186/s12887-026-07232-4
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• KBG Syndrome in 16 Indian Individuals
  American Journal of Medical Genetics Part A 2025 DOI: 10.1002/ajmg.a.63907
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• Complex chromosomal rearrangements in female carriers experiencing recurrent pregnancy loss or poor obstetric history and literature review
  Journal of Assisted Reproduction and Genetics 2025 DOI: 10.1007/s10815-024-03316-1
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• Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature
  JIMD Reports 2024 DOI: 10.1002/jmd2.12407
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• Late infantile and adult‐onset metachromatic leukodystrophy due to novel missense variants in the PSAP gene: Case report from India
  JIMD Reports 2023 DOI: 10.1002/jmd2.12374
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• Late infantile form of multiple sulfatase deficiency with a novel missense variant in the SUMF1 gene: case report and review
  BMC Pediatrics 2023 DOI: 10.1186/s12887-023-03955-w
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• Lysosomal storage disorders: from biology to the clinic with reference to India
  The Lancet Regional Health - Southeast Asia 2023 DOI: 10.1016/j.lansea.2022.100108
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• Genotype-phenotype spectrum of 130 unrelated Indian families with Mucopolysaccharidosis type II
  European Journal of Medical Genetics 2022 DOI: 10.1016/j.ejmg.2022.104447
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• Vitamin K Insufficiency in the Indian Population: Pilot Observational Epidemiology Study
  JMIR Public Health and Surveillance 2022 DOI: 10.2196/31941
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• Vitamin K Insufficiency in the Indian Population: Pilot Observational Epidemiology Study (Preprint)
  2021 DOI: 10.2196/preprints.31941
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