Institute of Human Genetics

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Publication of last two years


  • 1. 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.

  • 2. 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

  • 3. 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. DOI 10.1186/s12881-017-0367-x

  • 4. 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.

  • 5. 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.

  • 6. 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.

  • 7. 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)

  • 8. 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

  • 9. 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.

  • 10. Sheth J, Mistri M, Bhavsar R, Sheth F, Kamate M, Shah S and Datar C (2015). Lysosomal Storage Disorders in Indian Children with Neuroregression Attending Specialized Genetic Center. Indian Pediatrics 52(12):1029-1033.

  • 11. Sheth J, Mistri M, Bhavsar R, Patel H, Sheth F (2015). Novel mutation in XPC gene: a case report on a patient with Xeroderma Pigmentosum. International Journal of Dermatology 54(11):e487-e491.

  • 12. Sheth F, Liehr T, Shah K, Sheth J (2015). Prader-Willi syndrome - type 1 deletion, a consequence of an unbalanced translocation of chromosomes 13 and 15, easily to be mixed up with a Robertsonian translocation. Molecular Cytogentics 8:52. doi:10.1186/s13039-015-0163-2

  • 13. Sheth H, Jackson MS, Santibanez-Koref M, Parikh K, Sheth J, Sheth F, Tyson J, Daly AK, Burn J (2015). Relevance of genetic factors to warfarin dosing in India. Blood. (e-letter)

  • 14. Sheth H, Sheth J, Sheth F, Burn J (2015). The poor patient with diabetes ‘should live like a saint’ Diabetic Medicine DOI: 10.1111/dme.12826.

  • 15. Sheth J, Shah A, Trivedi S, Nabar N, Shah N, Thakor P, Vaidya R (2015). The Association of Dyslipidemia and Obesity with Glycated Hemoglobin. BMC Clinical Diabetes & Endocrinology 1:6.DOI 10.1186/s40842-015-0004-6.

  • 16. Sheth F, Rahman M, Liehr T, Desai M, Patel B, Modi C, Trivedi S, Sheth J (2015). Prenatal screening of cytogenetic anomalies – A Western Indian experience. BioMed Central Pregnancy and Childbirth 15:90

  • 17. Vanlerberghe C, Petit F; Malan V; Vincent-Delorme C; Bouquillon S; Boute O; Holder-Espinasse M; Delobel B; Duban B; Vallée L; Cuisset JM; Lemaitre MP; Vantyghem MC; Pigeyre M; Lanco-Dosen S; Plessis G; Gérard;M Decamp M; Mathieu M; Morin G; Jedraszak G; Bilan F; Gilbert-Dussardier B; Fauvert D; Roume J; Cormier-Daire V; Caumes R; Puechberty J; Geneviève D; Sarda P; Pinson L; Blanchet P; Lemeur N; Sheth F; Manouvrier-Hanu S; Andrieux J (2015). 15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: a series of 52 patients. European Journal of Medical Genetics 58(3):140-147.

  • 18. Sheth J, Shah A, Sheth F, Trivedi S, Lele M, Shah N, Thakor P, Vaidya R. (2015) Does Vitamin D play a significant role in type 2 diabetes? BMC Endocrine Disorders. 15:1-5.

  • 19. Sheth F, Trivedi S, Andrieux J, Blouin J, Sheth J. (2015) Pure interstitial dup(6)(q22.31q22.31) – a case report. Italian Journal of Pediatrics. 41(1):5. (epub ahead of print)

  • 20. Sheth J, Shah S, Patel H, Bhavsar R, Bhatt K, Sheth F. (2015) A Study on Triplet Repeat Expansion Disorders in Western Indian Population. Hereditary Genetics 4(1):5 pages. (doi:10.4172/2161-1041.1000141)

  • 21. Sheth J, Mistri M, Datar C, Kalane U, Patil S, Kamate M, Shah H, Nampoothiri S, Gupta S, Sheth F. (2014) Expanding the spectrum of HEXA mutations in Indian patients with Tay–Sachs disease. Molecular Genetics and Metabolic Reports. 1:425-430.

  • 22. Sheth J, Mistri M, Sheth F, Datar C, Godbole K, Kamate M, Patil K. (2014) Prenatal Diagnosis of Lysosomal Storage Disorders by Enzymes Study Using Chorionic Villus and Amniotic Fluid. Journal of Fetal Medicine. 1(1):17-24.

  • 23. Sheth F, Datar C, Andrieux J, Pandit A, Nayak D, Rahman M, Sheth J. (2014) Distal Deletion of Chromosome 11q Encompassing Jacobsen Syndrome without Platelet Abnormality. Clinical Medical Insights: Pediatrics. 8:45-49.

  • 24. Ankleshwaria C, Mistri M, Bavdekar A, Muranjan M, Dave U, Tamhankar P, Khanna V, Jasinge E, Nampoothiri S, Kumar S, Sheth F, Gupta S, Sheth J (2014). Novel mutations in the Glucocerebrosidase gene of Indian patients with Gaucher disease. Journal of Human Genetics 59(4): 223-228.

  • 25. Sheth J, Mistri M, Sheth F, Shah R, Bavdekar A, Godbole K, Nanavati N, Datar C, Kamate M, Oza N, Ankleshwaria C, Mehta S, Jackson M (2014). Burden of Lysosomal Storage Disorders in India: Experience of 387 affected children from a single diagnostic facility. Journal of Inherited Metabolic Disease. JIMD Reports.12: 51-63.

  • 26. F Sheth, H Sheth, P Kumari, S Tewari, M Desai, B Patel, J Sheth (2014). Evolution of Cytogenetics in Disease Diagnosis. Journal of Translational Toxicology 1(1): 3-9.

Articles in local language

Nature's Horoscope

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