Institute of Human Genetics

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Publications of 2018-2017-2016


  • 1. Sheth J, Bhavsar R, Mistri M, Pancholi D, Bavdekar A, Dalal A, Ranganath P, Girisha KM, Shukla A, Phadke S, Puri R, Panigrahi I, Kaur A, Muranjan M, Goyal M,  Ramadevi R, Shah R, Nampoothiri S, Danda S, Datar C, Kapoor S, Bhatwadekar S, Sheth F (2019). Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation. BMC Med Genet. 20(1):31. doi: 10.1186/s12881-019-0759-1.[pmid]

  • 2. Sheth J, Patel A, Shah R, Bhavsar R, Trivedi S, Sheth F (2019). Rare cause of Hemophagocytic Lymphohistiocytosis due to mutation in PRF1 and SH2D1A genes in two children - a case report with a review. BMC Pediatrics. 19(1):73. doi: 10.1186/s12887-019-1444-4.

  • 3. Boonsawat P, Joset P, Steindl K, Oneda B, Gogoll L, Azzarello-Burri S, Sheth F, Datar C, Verma IC, Puri R, Zollino M, Bachmann-Gagescu R, Niedrist D, Papik M, Figueiro-Silva J, Masood R, Zweier M, Kraemer D, Lincoln S, Rodan L; Undiagnosed Diseases Network (UDN), Passemard S, Drunat S, Verloes A, Horn AHC, Sticht H, Steinfeld R, Plecko B, Latal B, Jenni O, Asadollahi R, Rauch A (2019). Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly. Genetics in Medicine. 2019 Mar 7. doi: 10.1038/s41436-019-0464-7. [Epub ahead of print]

  • 4. Nampoothiri S, Elcioglu NH, Koca S, Yesodharan D, Kk C, Krishnan V 5th, Bhat M, Mohandas Nair K, Radhakrishnan N, Kappanayil M, Sheth J, Alves S, Coutinho F, Friez M, Pauli RM, Unger S, Superti-Furga A, Leroy J, Cathey S (2018). Does the clinical phenotype of mucolipidosis-IIIγ differ from its αβ counterpart?: Supporting facts in a cohort of 18 patients. Clinical Dysmorphology 28(1):7-16.

  • 5. Sheth F, Liehr T, Shah V, Shah H, Tewari S, Solanki D, Trivedi S, Sheth J (2018). A child with intellectual disability and dysmorphism due to complex ring chromosome 6: identification of molecular mechanism with review of literature. Italian Journal of Pediatrics. 44:114.

  • 6. Sheth J, Pancholi D, Mistri M, Nath P, Ankleshwaria C, Bhavsar R, Puri R, Phadke S, Sheth F (2018). 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. BMC Medical Genetics. 19(1):178.

  • 7. Sheth F, Liehr T, Mrasek K, Andrieux J, Tweari S, Nazneen L, Sheth J (2018). sSMC characterization in male with Turner Synderome Stigmata. OBM Genetics DOI: 10.21926/obm.genet.1803033

  • 8. Sheth J, Mistri M, Mahadevan L, Mehta S, Solanki D, Kamate M, Sheth F (2018). Identification in deletion-duplication in HEXA gene in five children with Tay-Sach disease in India. BMC Medical Genetics 19:109.

  • 9. Sheth J, Bhavsar R, Patel D, Joshi A, Sheth F (2018). Harlequin ichthyosis due to novel splice site mutation in the ABCA12 gene: postnatal to prenatal diagnosis. International Journal of Dermatology 57(4):428-433

  • 10. Sheth J, Bhavsar R, Gandhi A, Sheth F, Pancholi D (2018). A case of Raine syndrome presenting with facial dysmorphy and review of literature. BMC Medical Genetics 19:76.

  • 11. Tewari s, Naznin L, Shah R, Ahmed B. H., Sha K, Sheth J Sheth F (2017). Molecular characterization and evaluation of complex rearrangements in a case of ring chromosome 15. Molecular Cytogenetics. 10:38. doi: 10.1186/s13039-017-0339-z.

  • 12. Depienne C, Nava C, Keren B, Heide S, Rastetter A, Passemard S, Chantot-Bastaraud S, Moutard ML, Agrawal PB, VanNoy G, Stoler JM, Amor DJ, Billette de Villemeur T, Doummar D, Alby C, Cormier-Daire V, Garel C, Marzin P, Scheidecker S, de Saint-Martin A, Hirsch E, Korff C, Bottani A, Faivre L, Verloes A, Orzechowski C, Burglen L, Leheup B, Roume J, Andrieux J, Sheth F, Datar C, Parker MJ, Pasquier L, Odent S, Naudion S, Delrue MA, Le Caignec C, Vincent M, Isidor B, Renaldo F, Stewart F, Toutain A, Koehler U, Häckl B, von Stülpnagel C, Kluger G, Møller RS, Pal D, Jonson T, Soller M, Verbeek NE, van Haelst MM, de Kovel C, Koeleman B, Monroe G, van Haaften G, DDD Study, Attié-Bitach T, Boutaud L, Héron D, Mignot C (2017). Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU. Human Genetics. 136(4):463-479. doi: 10.1007/s00439-017-1772-0.

  • 13. Thuresson AC, Van Buggenhout G, Sheth F, Kamate M, Andrieux J, Clayton Smith J, Soussi Zander C. Whole gene duplication of SCN2A and SCN3A is associated with neonatal seizures and a normal intellectual development. Clinical Genetics 91:106-110. doi: 10.1111/cge.12797

  • 14. Sheth J, Ranjan G, Shah K, Bhavsar R, Sheth F (2017). Novel LINS1 Missense Mutation in a Family With Non-Syndromic Intellectual Disability. American Journal of Medical Genetics 173(4):1041-1046. doi: 10.1002/ajmg.a.38089

  • 15. Sheth J, Joseph J, Shah K, Muranjan M, Mistri M, Sheth F (2017). Pulmonary manifestations in Niemann-Pick type C disease with mutations in NPC2 gene: case report and review of literature. BMC Medical Genetics. 18(1):5 DOI 10.1186/s12881-017-0367-x

  • 16. Solanki A, Selvaa CK, Sheth F, Radhakrishnan N, Kalra M, Vundinti B (2017). Characterization of two novel FANCG mutations in Indian Fanconi anemia patients. Leukemia Research 53:50-56.

  • 17. Thuresson AC, Buggenhout GV, Sheth F, Kamate M, Andrieux J, Smith JC, Zander CS (2017). Whole gene duplication of SCN2A and SCN3A is compatible with normal intellectual development. Clinical Genetics. 91(1):106-110.

  • 18. Sheth F, Naznin L, Liehr T, Sheth J (2016). FISH – The Best Technique in Characterization of Prenatally Detected Small Supernumerary Marker Chromosomes (sSMC). International Journal of Pregnancy and Child Birth 1(1): 00005. DOI: 10.15406/ipcb.2016.01.00005.

  • 19. Sheth J, Mistri M, Shah K, Chowdhury M, Godbole K, Sheth F (2016). Lysosomal Storage Disorders in Non-immune Hydrops Fetalis (NIHF) – An Indian Experience. JIMD Reports DOI: 10.1007/8904_2016_24 (Epub ahead of print)

  • 20. Sheth J, Datar C, Mistri M, Bhasar R, Sheth F and Shah K (2016). GM2 gandliosidosis AB variant: novel mutation from India- a case report with a review. BMC Pediatrics 16:88. doi: 10.1186/s12887-016-0626-6

  • 21. Tamhankar P, Mistri M, Kondurkar P, Sanghavi D, Sheth J (2016). Clinical, biochemical and mutation profile in Indian patients with Sandhoff disease. Journal of Human Genetics 61(2):163 – 166.

Articles in local language

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Healthy nation through healthy mother and child

Mental health through scientific approach



Articles in English language

Nature's Horoscope

Healthy nation through healthy mother and child

Mental health through scientific approach

R J Sheth