All Stories

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

    Article • Journal of Assisted Reproduction and Genetics, November 2024, Springer Science + Business Media

    Jayesh Sheth

  2. KBG Syndrome in 16 Indian Individuals

    Article • American Journal of Medical Genetics Part A, October 2024, Wiley

    Jayesh Sheth

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

    Article • JIMD Reports, January 2024, Wiley

    Jayesh Sheth

  4. Late infantile and adult‐onset metachromatic leukodystrophy due to novel missense variants in the PSAP gene: Case report from India

    Article • JIMD Reports, June 2023, Wiley

    Jayesh Sheth

  5. Late infantile form of multiple sulfatase deficiency with a novel missense variant in the SUMF1 gene: case report and review

    Article • BMC Pediatrics, March 2023, Springer Science + Business Media

    Jayesh Sheth

  6. Lysosomal storage disorders: From biology to the clinic with reference to India

    Article • The Lancet Regional Health - Southeast Asia, November 2022, Elsevier

    Jayesh Sheth

  7. Genotype-phenotype spectrum of 130 unrelated Indian families with Mucopolysaccharidosis type II

    Article • European Journal of Medical Genetics, February 2022, Elsevier

    Jayesh Sheth

  8. Vitamin K Insufficiency in an India Population: A Pilot Study (Preprint)

    Article • July 2021, JMIR Publications Inc.

    Jayesh Sheth

  9. VITAMIN K INSUFFICIENCY IN AN INDIA POPULATION: A PILOT STUDY (Preprint)

    Article • JMIR Public Health and Surveillance, July 2021, JMIR Publications Inc.

    Jayesh Sheth

  10. Treatment for Lysosomal Storage Disorders

    Article • Current Pharmaceutical Design, October 2020, Bentham Science Publishers

    Jayesh Sheth

  11. Identification of Missense Mutation Pro77Arg As A Founder Mutation in Morquio-A Syndrome in Indian Gujarati Patel Ethnicity

    Article • September 2020, Research Square

    Jayesh Sheth

  12. Clinical Characteristics, Molecular Profile, and Outcomes in Indian Patients with Glutaric Aciduria Type 1

    Article • Journal of Pediatric Genetics, September 2020, Thieme Publishing Group

    Jayesh Sheth

  13. Rare cause of Hemophagocytic Lymphohistiocytosis due to mutation in PRF1 and SH2D1A genes in two children – a case report with a review

    Article • BMC Pediatrics, March 2019, Springer Science + Business Media

    Jayesh Sheth

  14. Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation

    Article • BMC Medical Genetics, February 2019, Springer Science + Business Media

    Jayesh Sheth

  15. Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India

    Article • BMC Medical Genetics, October 2018, Springer Science + Business Media

    Jayesh Sheth

  16. Identification of deletion-duplication in HEXA gene in five children with Tay-Sachs disease from India

    Article • BMC Medical Genetics, July 2018, Springer Science + Business Media

    Jayesh Sheth

  17. Pulmonary manifestations in Niemann-Pick type C disease with mutations in NPC2 gene: case report and review of literature

    Article • BMC Medical Genetics, January 2017, Springer Science + Business Media

    Jayesh Sheth

  18. GM2 gangliosidosis AB variant: novel mutation from India – a case report with a review

    Article • BMC Pediatrics, July 2016, Springer Science + Business Media

    Jayesh Sheth

  19. Novel mutation in theXPCgene: a case report of a patient with xeroderma pigmentosum

    Article • International Journal of Dermatology, July 2015, Wiley

    Jayesh Sheth

  20. Prenatal diagnosis of lysosomal storage disorders: our experience in 120 cases

    Article • Molecular Cytogenetics, January 2014, Springer Science + Business Media

    Jayesh Sheth

  21. Burden of Lysosomal Storage Disorders in India: Experience of 387 Affected Children from a Single Diagnostic Facility

    Article • JIMD Reports, January 2013, Springer Science + Business Media

    Jayesh Sheth

  22. Identification of Novel Mutations in FAH Gene and Prenatal Diagnosis of Tyrosinemia in Indian Family

    Article • Case Reports in Genetics, January 2012, Hindawi Publishing Corporation

    Jayesh Sheth