CURRICULUM VITAE Dr. F Sheth Present Status VISITNG PROF. OF BIOL. FACULTY EDUCATION Scientist and Additional Director, Cytogenetic and Molecular Cytogenetic Division FRIGE’s Institute of Human Genetics Satellite, Ahmedabad-380 015 Gujarat, INDIA. Jaiwaji UNIVERSITY, Gwalior. 2002 European Advance Post Graduate course in Classical and Molecular Cytogenetics, University of Montpellier, Nimes, FRANCE. 1990 Ph.D. in Cell Biology School of Sciences, Gujarat University Ahmedabad-380 015. 1983 M.Sc. in Applied Biology (By Dessertation) Sir Harkishandas Hospital, Bombay University Bombay-400 004. 1980 B.Sc. in Microbiology M.G.Science College, Gujarat University Ahmedabad-380 009. SPECIAL TRAINING ACQUIRED Oct 2010 Travel fellowship given by ICMR to present paper at 60th International Meeting of American Society of Human Genetics at Washington DC. USA. Sept – Oct. 2008 Comparative Genomic Hybridization array study in leukemia under the guidance of Dr. Joris Andrieux, Lille, France. June – Aug. 2006 Multipotent Adult Progenitor Stem cell training at University of Minnesota, Minneapolis, USA under the guidance of Dr. Catherine Verfaillie. January 2006 Stem cell Training at Coriell Institute of Medical Research, Camden, New Jersey, USA August 2003 Vysis sponsored hands-on FISH training using Path Vysion, Aneu Vysion and Uro Vysion FISH probes for the diagnosis of various genetic disorders at Bangkok. May 2002 to July 2002 Visited Institute di Genetica, Bari – Italy and worked with Prof. Mariano Rocchi group for learning FISH techniques for the diagnosis of Leukemias. Feb. 2002 to March 2002 European Advance Post Graduate Diploma in classical and Molecular Cytogenetics, University of Montpellier, Nimes, FRANCE. June 1999 to August 1999 Visited Microbiology and Biotechnology Division, Uni. Of Geneva Medical School, Cantonal Hosp. Geneva, Switzerland. Worked with Prof. S.E. Antonarakis and Prof. Potis Beris group for learning recent Cytogenetic and Molecular techniques for the diagnosis of Thalassemia and other Genetic diseases. January 1998 Attended 4th National Congress and workshop on Prenatal Diagnosis and Therapy organized by ISPAT. Dec. 1995 to Jan. 1996 Visited Microbiology and Biotechnology Division, Uni. Of Geneva to Medical School, Cantonal Hosp. Geneva, Switzerland. Worked with Prof.S.E.Antonarakis group for learning recent Cytogenetic and Molecular techniques for the diagnosis of Genetic diseases. Nov. 1995 to Dec. 1995 Visited Institute Jules Bordet, Bruxelles. : Worked with Prof. Alian Verhest Group on Solid tumor and FISH. November 1994 Attended IIIrd National workshop on Prenatal Diagnosis and Therapy organized by ISPAT. December 1993 Pre-Conference Workshop on DNA methodology at International Conference on Human Genetics and Family Welfare, B.J.Medical College, Pune City, India January 1993 UGC-CIDA sponsored training program in computer applications in Scientific Research, Gujarat University Computer Application Centre, Ahmedabad. December 1981 Training in Vaginal Cytology, Cama & Albless Hospital, and Bombay May 1981 Training course on peptide hormones and RIA. At Institute for Research in Reproduction, Bombay. EXPERIENCE Dec. 2010 Organized symposium on ‘Genetics in Clinical practice: Diagnosis to Therapeutics” jointly with IAP on 12th Dec. 2010 Dec. 2009 Organized symposium on “Genetics in Clinical Practice” on 20th Dec. 2009. Dec. 2008 Organized Winter Workshop on Cytogenetics and Molecular Cytogenetics at FRIGE, Ahmedabad. Dec. 07 –Jan 08 Organized workshop “GeneDioT-2007 at FRIGE jointly with GCRI and Gujarat University, Ahmedabad. Nov 2008 Organized Winter workshop on Molecular Diagnostics at FRIGE, Ahmedabad December 2005 Organized one-day scientific Symposium on “Obesity and Related Disorders”, in collaboration with IMS, Ahmedabad. January 2004 Organizing Secretary, 7th National conference and workshops [Molecular cytogenetic techniques and Antenatal diagnostic techniques, 20th to 23rd Jan 2004] on Prenatal diagnosis and Therapy, Organized by Foundation for Research in Genetics and Endocrinology [FRIGE], Sheth V.S. Hospital, Baroda Medical College during 23rd to 25th, Ahmedabad, Gujarat. 2004 December 2000 Organized one-day scientific symposium on “Genetic Disorders”, Ahmedabad December 2000 Organized Workshop on antenatal diagnosis of Beta- Thalassemia, Foundation For Research in Genetics and Endocrinology (FRIGE), Genetics Centre, Ahmedabad. April 2000 till date Scientist and Additional Director, Cytogenetic Division. Foundation for Research in Genetics and Endocrinology [FRIGE], Genetic Centre, Satellite, Ahmedabad. April 1996 – March 2000 SENIOR SCIENTIST, Foundation for Research In Genetics and Endocrinology, (FRIGE), Genetics Centre, 20/1, Bimanagar, Satellite, Ahmedabad-380 015, India. October 1994 to March 1996 JUNIOR SCIENTIST, Foundation for Research In Genetics and Endocrinology, (FRIGE), Genetics Centre, 20/1, Bimanagar, Satellite, Ahmedabad-380 015, India. January 1992 to September 1994 RESEARCH ASSOCIATE, Cell Biology Division, Zoology Department, Gujarat University, Ahmedabad-380 009, India. COLLABORATION *Gene Identification open angular Glaucoma with Duke University [Project completed] *Polymorphism of inversion Y: Pasteur Institute, Prof Ken MacElreavy *Gene Polymorphism and Folate Metabolism in mothers with Down syndrome child, with Dr James Jill, Toxicological Research centre, Arkansas, USA [Project completed] *Study of LAMIN gene mutation in large Indian Family with Familial Partial Lipodystrophy: Prof Robert Hegle, Canada [Project completed] *Study of Homocysteine and Thiol in young adults as a risk factor for cardiovascular disorders [Project completed] *Revaluation of the traditional production of the hybrid of the Indian wild ass (Equus hemionus khur) and the female donkey (E. asinus) in Gujarat, India. The study of Karyotype in hybrid of the Indian wild ass [Project completed]. *Study of DNA damage in Type II diabetes. CSIR-NMITLI Project [Project completed]. LIFE MEMBERSHIP *American Society of Human Genetics *European Cytogenetic Association *Indian Society of Human Genetics. *Indian Society for Prenatal Diagnosis and Therapy. *Indian Association of Cancer Research *Indian Society of Cell Biology. *Indian Society of clinical, Pharmaceutical and Therapeutics FOUNDER TRUSTEE Foundation For Research In Genetics And Endocrinology (FRIGE). REVIEWER Indian Pediatrics Indian Journal of Medical Research Indian Journal of Cancer Research and Therapeutics Mutation Research International Journal of Medicine and Medical Sciences Indian Journal of Cancer International Journal of General Medicine INVITED TALK June 2011 Basics of Genetics and Important cases in RFL at IMA, Godhara Dec. 2010 Array-CGH – A newer tool of identifying genomic imbalance in children with MCA Dec. 2009 Role of Molecular Cytogenetics and CGH array in children with multiple congenital anomalies July 2009 Cytogenetic and Molecular cytogenetic study in clinical practice. Shimla March 2009 Scope of cytogenetics in cancer diagnosis and treatment. Muni Sevashram Cancer hospital, Goraj, Gujarat. February 2009 Cytogenetic study in clinical practice. Symposium on Genetic Disorders. Dept of Pharmaceuticals, Saurastra University, Rajkot. Molecular cytogenetics in Leukemias. Symposium on Genetic Disorders. Dept of Pharmaceuticals, Saurastra University, Rajkot. September 2008 Triple Marker followed by either AF, CVS – what are the lessons? CME, Gyenac. Association. Baroda February 2007 Clinical Application of Cytogenetics, CME of Hematological malignancies, AMA, Ahmedabad. January 2006 Cytogenetics aspects in clinical practice. Baroda November 2005 Decision-making in pregnancy – Cytogenetic aspects. CME program at Palanpur. April 2004 Basic of Genetics. Iladevi Cataract and amp IOL Research Centre, Ahmedabad May 2004 When and why to ask for genetic study and Triple Marker Study-Its role in Prenatal Diagnosis. Gwalior November 2002 Usefulness of cytogenetic study in day-to-day medical practice. CME Programme of Memnagar-Ghatlodia Medical Association. Ahmedabad July 2002 Usefulness of Cytogenetics in Medical Practice. At CME Programme of Obstetric and Gynecology Society Bharuch wing. Gujarat. April 2001 Recent advances in Genetics At Daman Medical Association, Daman. Gujarat December 1999 Molecular Biology and Its Clinical application: 6th Annual Conference of Association of Chest Physicians of Gujarat, Mt.Abu, Rajasthan. June 1997 Trends in Genetics: The Ahmedabad GP Society CME. December 1996 Genetic study in Genodermatosis: Conference of IADV&L, GSB. August 1996 Laboratory investigations for metabolic disorders and chromosomal analysis: Post Graduate Revision course for Pediatrics. June 1995 Laboratory diagnosis in spontaneous abortion: The Ahmedabad Obstetrics and Gynecological society PRESENTATIONS >110 papers presented at National and International Conferences at XXI Annual State HONORS & AWARDS 2010 Travel award given by ICMR to present the research article at 60th Annual Meeting of ASHG, 2nd to 6th Nov. Washington DC. USA. 2008 UICC – ICRETT, Visited Laboratory of Medical Genetics, CHRU, Lille, France and worked with Dr. Joris Andrieux group for learning Comparative Genomic Hybridization array study in leukemia 2006-2007 Biography included and published by Marqui’s Who is Who in the Medicine and HealthCare October 2004 Award given by Fanconi Anemia Research Fund to present the research article at 16th Annual International Fanconi Anemia Scientific Symposium, 14th to 17th Oct. Boston, USA. March 2003 European Cytogenetic Association fellowship for Candidate of Excellence. August 2002 Fellow - UICC May 2002 to July 2002 UICC – ICRETT Visited Institute di Genetica, Bari – Italy and worked with Prof. Mariano Rocchi group for learning FISH techniques for the diagnosis of Leukemias January 1992 to September 1994 Research Associate. Council of Scientific and Industrial Research, New Delhi. Human Genetic & Reproduction Unit, Department of Zoology, Gujarat University, Ahmedabad. March 1988 to February 1990 Senior Research Fellow. Council of Scientific and Industrial Research, New Delhi. Human Genetic & Reproduction Unit Department of Zoology Gujarat University, Ahmedabad. April 1987 to February 1988 Junior Research Fellow. University Grants Commission (UGC), Govt. of India. New Delhi sponsored DSA (Department of Special Assist.) program. Human Genetic & Reproduction Unit, Department of Zoology, Gujarat University, Ahmedabad. September 1985 to March 1987 Senior Research Fellow. UGC-DSA Program, Human Genetic & Reproduction Unit, Department of Zoology, Gujarat University, Ahmedabad. September 1983 to August 1985 Junior Research Fellow. UGC-DSA Program, Human Genetic & Reproduction Unit, Department of Zoology, Gujarat University, Ahmedabad June 1983 to August 1983 Senior Research Assistant. Tissue Culture GujaratCancer & Research Intuit. Ahmedabad. February 1983 to May 1983 Senior Research Assistant. Nuclear Medicine Centre, Nanavati Hospital, Bombay. January 1982 to January 1983 Project Assistant. Cytology Laboratory, Cama & Albless Hospital, Bombay. December 1980 to December 1981 Assistant. Cama & Albless Hospital, Bombay. Laboratory, Ongoing Research Projects Mutation study of the prevalent lysosomal storage disorders in India and extension of lysosomal enzyme study. ICMR, India Role: Co-I Completed Research Projects Preparation and standardization of FISH probes for various genetic disorders and extension of services in Gujarat. DBT, India. Role: PI Study of LSDs in children with regression of milestone. ICMR, India Role: Co-I Herbal Based preparations for degenerative disorders: Type II [NIDDM] diabetes Mellitus with emphasis on Insulin Sensitization and Herbo print-are tool for standardization for herbal medicine. CSIR-NMITLI, India Role: Co-coordinating Genotoxicity study of Type II diabetes LIST OF PUBLICATIONS 1. J Sheth, A Sheth, F Vin (1983). Bioreactive and immunoreactive inhibin like substance in human fetal gonads. J. Bio. Res. Preg. 4(3):110. 2. J Sheth, F Sheth, R Banker, B Shah, R Nadkarni, N Shah (1987). Premature ovarian failure: J. Obstet. Gynec. India. 37:557-580. 3. J Sheth, P Thakore, S Shah, B Shah, N Shah, F Sheth (1989). A newer avenue for evaluation of thyroid dysfunction: JAPI. 37:703-704. 4. N Chinoy, V Shah, H Highland, F Sheth, S Murthy (1984). Semen analysis in some cases of human infertility. Ibid, 83 – 87. 5. F Sheth, V Shah, N Chinoy, A Multani, S Murthy, H Highland, U Radhakrishna (1988). Repeated fetal loss in referred cases: A study on 14 couples with spontaneous abortion. Ind. J. Obstet. Gynec. 38(3):274-277. 6. V Shah, N Chinoy, F Sheth, S Murthy, A Multani, G Shah, G Banker, A Patel (1990). Cytogenetics of Human Sex Variants: In Genetical Research. In collection of article, BARC, Bombay. 228-230. 7. U Radhakrishna, V Shah, H Highland, N Chinoy, F Sheth (1990). A triple-X female with long arm deletion of one of the X-chromosomes associated with primary amenorrhoea; 47,XX,+del (X)(q27.3). Annales de Genetique. 34:40-43. 8. V Shah, F Sheth, N Chinoy, S Murthy, A Multani, U Radhakrishna, G Shah, G Banker, A Patel (1990). Human Sex Determination and Development. Everyman’s Science. 224-228. 9. J Sheth, F Sheth (1992). Hyperprolactinemia: A common endocrine thread in infertility. J. Obstet. Gynecol. of India. 42(3):366-369. 10. F Sheth, U Radhakrishna, A Multani, V Shah, N Chinoy (1991). A female with Isodicentric X chromosome idic (Xq) associated with ovarian dysgenesis. Ind. J Pediatr. 61(2):189-192. 11. A Multani, U Radhakrishna, F Sheth, V Shah, N Chinoy (1992). Translocation (22:22) (p11.1:q11.1) and NOR studies in a female with a history of repeated fetal loss. Annales de Genetique. 35(2):105-109. 12. F Sheth, A Multani, N Chinoy (1994). Sister Chromatid Exchanges: A study in flurotic individuals of North Gujarat. Fluoride 27(4):215-219. 13. V Shah, N Chinoy, F Sheth, A Multani, V Smart (1994). Human Chromosome Y - Why? Perspective in Cytology and Genetic.8. 14. J Sheth, F Sheth, H Patel (1995). Alpha-Feto Protein (AFP)- A marker for prenatal diagnosis of birth defects. Ind. J. Clin. Pract. 5(9):87-89. 15. F Sheth, A Multani, V Shah, N Chinoy (1995). Fetal malformations caused by amnion rupture: A case report. Indian Journal of Pediatrics. 62:381-383. 16. F Sheth, U Radhakrishna, A S Multani, V Shah, N Chinoy (1995). Acrocentric chromosome association in couples with repeated fetal loss. IJOG 6(1):66-70. 17. F Sheth, A S Multani, J Sheth, U Radhakrishna, V Shah, N Chinoy (1996). Incomplete gonadal dysgenesis: A case report. Urologia Internationalis. 56: 57-60. 18. J Sheth, F Sheth, B S Shah (1996). Laboratory diagnosis of Cushing syndrome. Ind. J. Clin. Prac. 6(11), April. 17-21. 19. A S Multani, F Sheth, V Shah, N Chinoy, S Pathak (1996). Three siblings with Harlequin Ichthyosis in an Indian family. Early Human Development 45:229-233. 20. F Sheth, V R Hydrabadi, J Sheth, H A Patel, D M Shah (1996). Sex chromosomal Mosaicism and secondary amenorrhoea: A case report. Ind. J. Obstet. Gynec. 423-425 21. A Multani, U Radhakrishna, F Sheth, V Shah, N Chinoy, S Pathak (1996). Maternal Inheritance of 10/15 translocations in a female with bad obstetric history. Brazelian J. Gene. 19(3):497-500. 22. U Radhakrishna, J Blouin, H Mehenni, T Mehta, F Sheth, J Sheth, J Solanki, S Antonarakis (1997). The gene for autosomal dominant hydrotic ectodermal dysplasia (Clouston syndrome) in a large family maps to the pericentromeric region of chromosome 13q11-q12.1. Am. J. Med. Genet. 71:80-86. 23. F Sheth, V Hyderabadi, J Sheth (1997). Genetic variation in genodermatosis. Quaterderm 10(40):1-11. 24. F Sheth (1999). A case of Down 47,XY,t(11;21)(q13.3;p13)+21 in Brain Tickler column of The J Association of Genetic Technologist 25:3. 25. J Sheth, F Sheth, V Hydrabadi, K McElreavey, U Radhakrishna (2000). A case of sex reversal 46,XY female with endodermal sinus tumor. Ind. J Hum Genet. 6(1&2):11-14. 26. J Sheth, F Sheth (2001): Study of Anticardiolipin antibodies in repeated abortions-An Institutional Experience: Ind J Path. Microbiol. 44(2):117-121 27. J Sheth, R Bhattacharya, F Sheth (2001) Lysosomal storage disorders: Diagnosis to therapy. Gujarat Med. Journal. 58(3):7-11. 28. J Sheth, F Sheth, R Bhattacharya (2002): Morquio B Syndrome (MPS IVB) with Beta Galactosidase deficiency in two siblings. Ind. J. Ped. 68:109-111. 29. J Sheth, R Bhattacharya, F Sheth (2002): Prenatal Diagnosis of Tay Sach B1 variant in Maharastrian Family. Ind. Ped. 39:704-706. 30. J Sheth, F Sheth. (2003): Gene Polymorphism and Folate metabolism: A maternal risk factor for Down syndrome. Indian Pediatrics. 40:1-9. 31. F Sheth, J Sheth, A Patel, A Shah, A Verhest (2002): Usefulness of cytogenetics in leukemias. Ind. J. Cancer. 39:133-136. 32. F Sheth, J Sheth, V Hyderabadi, K McElreavey, C Krasz (2003). Cytogenetic and Molecular study in 46,XY female. J Obstet Gynec India. 53(4):398-400. 33. F Sheth, A Zagaria, L Anelli , A Shah, J Sheth, M Rocchi (2003). Role of Cytogenetic and Fluorescence In-Situ Hybridization in detection of Hematological Malignancies. Ind. J. Cancer. 40(4):35-139. 34. J Sheth, P Patel, F Sheth, R Shah (2004). Lysosomal Disorders: Our experience: Ind Pediatrics. 41(3): 260-266. 35. J Sheth, F Sheth, N Pandya, R Vaidya (2004). Recurrent Neural tube Defects (NTD’S) and deficiency of Vitamin B12 beyond Folic Acid: J Obstet Gynec India: : 53(6 ):596 -597. 36. F Sheth, V Hyderabadi and J Sheth (2004). Study of Genetic disorders by chromosome analysis: It’s role on modern era of medicine. Guj. Med J. 61(1):9-12. 37. A Patel, R Adesara, S Prajapati, V Patel, A Kaur, S Kanvinde, N Patel, V Patel, D Shah, D Rathod, F Sheth. (2004). Diagnostic value of bone marrow Examination. Guj. Med. Journal 61(2):11-15. 38. S Pandey, S Pungavkar, R Vaidya, D Patkar, R Hegele, F Sheth, J Sheth, S Shah, Ashok Vaidya (2004). An Imaging Study of Body Composition Including Lipodeposition Pattern in a Patient of Familial Partial Lipodystrophy (Dunnigan Type). JAPI. 53:897-900. 39. F Sheth, J Sheth, A Verhest (2005). A three way complex translocation (4;9;22) in two patients with Chronic myeloid leukemia. Journal of Cancer Research and Therapeutics. 1(2):110-112. 40. F Sheth, P Patel, A Vaidya, R Vaidya, J Sheth (2006). Increased Frequency of Sister Chromatid Exchanges In Patients with Type II Diabetes. Current Science. 90(2):236-239. 41. F Sheth, J Sheth, C Desai. (2006) Case of near triploidy with isochromosome 17(q). Cancer Genetics Cytogenetics. 164(2):177-178. 42. J Sheth, F Sheth (2006). Lysosomal storage disorders: From clinical presentation to biochemical confirmation. J of Genetics screening and Health. 1:3-10. 43. F Sheth, N Soni. (2006) Ring chromosome 14 in a child with epilepsy and development delay. Ind. Pediat. 43:744-745. 44. J Sheth, S Shah, D Master, F Sheth (2006). Prenatal Exclusion of Lamellar Ichthyosis based on two novel mutations in TGM 1 gene: A case report. Ind. J. Dermatol. 51(4):281-282. 45. U Radhakrishna, U Ratnamala, M Gaines, S Beiraghi, D Hutchings, J Golla, S Husain, P Gambhir, J Sheth, F Sheth, C Ghati, M Naveed, J Solanki, U Patel, D Master, R Memon, G Amtonarkis, S Antonarkis, S Nath (2006). Genomewide scan for nonsyndromic cleft lip and palate in multigenerational Indian Families reveals significant evidence of linkage at 13q33.1-34. Am.J.Hum.Gene 79:580-585. 46. J Sheth, R Joshi, D Master, F Sheth (2007). Ring chromosome 9 in a dysmorphic child. Ind. J. Pediat. 74: 507-508 47. P Gambhir, J Sheth, F Sheth (2007). Syndrome in Focus GM1 Gangliosidosis: Journal of Genetics, Screening and Health. 2(1):20-22. 48. F Sheth, S Rao, M Desai, J Vin, J Sheth (2007). Cytogenetic Analysis of Clinical suspected Down syndrome cases in Gujarat with reference to maternal age risk factor. Ind Pediatr 44:774-777. 49. F Sheth, U Radhakrishna, M Morris, M Shah, B Louis, J Sheth, S Antonarkis (2007). Cytogenetic, Molecular and FISH Analysis of an Isodicentric Chromosome 21 idic(21)(q22.3) in a Mildly-Affected Patient with Down Syndrome. Int J Hum Genet. 7(3):215-218. 50. J Sheth, F Sheth, N Oza, M Doshi (2008). Triple maker study in midtrimester of pregnancy and risk of chromosomal abnormality: An Indian Experience. Ind. J Obstet. Gynec. 58(2):142-146. 51. J Sheth, F Sheth, N Oza (2008). Niemann-Pick Type ‘C’ Disease: A case report. Ind. Peditr. 45: 505-507 52. J Sheth, F Sheth, P Pandya, R Priya, S Davla (2008). Establishment of database for different mutations of β-globin gene for β-thalassaemia with respect to different communities in the population of Gujarat. Ind. J Pediatr. 75(6):567-570. 53. F Sheth, J Sheth, A Sodhan (2009). Double aneuploidy in a child with Down Syndrome Ind. Pediatr. 46: 359-360. 54. J Sheth, N Oza, M Mistri, P Naik, S Kumar, F Sheth (2009). Mucolipidosis type II (I-Cell) in two children with skeletal abnormality, dysmorphism and hepotasplenomaghaly. Pediatriconcall Vol-6, Art 24, 29-29. 55. G Vinci, R Brauner, A Tar, H Rouba, J Sheth, F Sheth, C Ravel, K McElreavey, A Bashamboo (2009). Mutations in the TSPYL1 gene associated with 46,XY DSD and male infertility. Fertility Sterility 92(4):1347-1350. 56. J Andrieux, F Sheth (2009). CGH-Array study and its utility in children for detection of Constitutional and Acquired anomalies. Ind J Exp Biol. 47:779-791. 57. F Sheth, E Ewers, N Kosyakova, A Weise, J Sheth, S Patil, M Ziegler, T Liehr (2009). A neocentric isochromosome Yp present as additional small supernumerary marker chromosome – evidence against U-type exchange mechanism? Cytogenetic Genome Research 125(2):115-116. 58. F Sheth, E Ewers, N Kosyakova, A Weise, J Sheth, M Desai, J Andrieux, J Vermeesch, M Ziegler, T Liehr (2009). Small supernumerary marker chromosome present in a Turner syndrome patient not derived from X- or Y-chromosome – a case report. Molecular Cytogenet 2: 22. 59. J Sheth, F Sheth, N Oza, P Gambhir, U Dave, R Shah (2010). Plasma Chitotriosidase activity in children with lysosomal storage disorders. Ind J Pediatr. 77:203-205. 60. F Sheth, J Andrieux, J Sheth (2010). Marker chromosome in a child with microcephaly and mental retardation. Ind Pediatr. 47:277-279. 61. J Sheth, M Mistri, K Godbole, F Sheth (2010). Predominance of Morquio-B (Mucopolysaccharidosis IVB) in children with skeletal dysplasia. Journal of Pathology and Laboratory Medicine. 2:29-36. 62. J Sheth, H Shah, F Sheth (2011). Infantile Glaucoma with coarse facial features as an early complication of Hurler-Scheie. Pediatric oncall. Pediatric oncall 8(1):22-23. 63. F Sheth, J Andrieux, E Ewers, N Kosyakova, A Weise, H Sheth, S Romana, M Lorch, B Deloben, O Theisen, T Liehr, S Numpoothiri, J Sheth (2011). Characterization of sSMC by FISH and molecular techniques. Euro J Med Genet. 54:247-255. 64. H Sheth, J Blouin, J Sheth, F Sheth (2011). Triple-X syndrome in a trisomic Down syndrome child: Both aneuploidies originated from the mother. Int J Hum Genet. 11(1):51-53 65. J Sheth, U Shah, F Sheth, N Shah, R Vaidya, A Vaidya (2011). Genoprotective Effect of Indian Gentian in Type 2 Diabetes Mellitus (T2DM): Comet Assay, Sister Chromatid Exchanges and Protein Oxidation Studies. IJHG 11(2):83-88. 66. F Sheth, J Pani, M Desai, S Mehta, J Sheth (2011). Single Cell Abnormality in Couples with Bad Obstetric History and Repeated Fetal Loss: Occurrence and Clinical outcome. IJHG 11(4):271-276. 67. F Sheth, U Shah, M Desai, J Sheth (2011). Clinical Profile of Inversion Y in People of Gujarat, West India. IJHG 11(4):245-248. 68. J Sheth, M Mistri, M Kamate, S Vaja, F Sheth (2012). Diagnostic strategy for Mucolipidosis II/III. Indian Pediatr. 49(12):975-977. 69. M Mistri, P Tamhankar, F Sheth, D Sanghavi, P Kondurkar, S Patil, S Thomas; S Gupta; J Sheth (2012). Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India. PLoS ONE 7(6): e39122. doi:10.1371/journal.pone.0039122 70. J Sheth, C Ankleshwaria, R Pawar, F Sheth (2012). Identification of Novel mutations in FAH gene and Prenatal diagnosis of Tyrosinemia in Indian Family. Case Report in Genetics, Article ID 428075, 4 pages. doi:10.1155/2012/428075 71. M Othman, A Lier, S Junker, P Kempf, F Dorka, E Gebhart, F Sheth, B Grygalewicz, S Bhatt, A Weise. K Mrasek, T Liehr, M Manvelyan (2012). Does positioning of chromosomes 8 and 21 in interphase drive t(8;21) in acute myelogenous leukemia? BioDiscovery; 4:2; DOI: 10.7750/BioDiscovery.2012.4.2 72. F Sheth, O Akinde, C Datar , O Adeteye, J Sheth (2012).Genotype-phenotype characterization of wolfHirschhorn syndrome confirmed by FISH - case reports. Case Rep Genet.:878796. doi: 10.1155/2012/878796. 73. F Sheth, N Gohel, T Liehr, O Akinde, M Desai, O Adeteye, J Sheth (2012). Gain of chromosome 4qter and loss of 5pter – an unusual case with features of Cri du chat syndrome (CdCS). Case Reports in Genetics. vol. 2012, Article ID 153405, 4 pages, doi:10.1155/2012/153405 74. F Sheth, M Kaul (2013). Diagnostic dilemma in overlapping congenital syndromes. Ind Pediatr 50:157158. 75. R Asadollahi, B Oneda, F Sheth, S Azzarello-Burri, R Baldinger, P Joset, B Latal, W Knirsch, S Desai, A Baumer, G Houge, J Andrieux, A Rauch (2013). Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability. EJHG 21(10):1100-1104. 76. K Mampilly, T mampilly, N Chandramohan, M Velayutham, J Sheth, F Sheth, V Janaki (2013). Prenatal Dolichocephaly: Sign of Trouble? – A variant of Miller Dieker Syndrome. Fetal and Pediatric Pathology, 32(4):308-311. 77. H Shah, F Sheth, V Pandit, B Langanecha (2013). Bloom Syndrome: report of two cases in siblings. International Journal of Dematology. 52(8):990–992, 78. J Sheth, H Patel, S Mehta, S Tewari, F Sheth (2013). Clinical and Molecular characterization of patients with gross hypotonia and impaired lower motor neuron function. Indian Pediatrics. 50:591-593. 79. J Sheth, M. Mistri, F Sheth, R. Shah, A. Bavdekar, K. Godbole, N. Nanavati, C. Datar, M. Kamate, N. Oza, C. Ankleshwaria, S. Mehta, M. Jackson (2013). Burden of Lysosomal Storage Disorders in India: Experience of 387 affected children from a single diagnostic facility. Journal of Inherited Metabolic Disease. JIMD Reports12:51-64. 80. F Sheth, J. Andrieux, S. Tewari, H. Sheth, M. Desai, P. Kumari, N. Nanavati, J Sheth (2013). Phenotypic consequences of combined deletion 8pter and duplication 15qter. Molecular Cytogenetics. Jul 1; 6(1): 24. doi:10.1186/1755-8166-6-24 81. F Sheth, T Liehr, P Kumari, R Akinde, H Sheth, J Sheth (2013). Chromosomal Abnormalities In Couples With Repeated Fetal Loss: An Indian Retrospective Study. Indian Journal of Human Genetics. 19(4); 415-422. 82. 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. DOI: http://dx.doi.org/10.1166/jtt.2014.1008 83. C Ankleshwaria, M Mistri, A Bavdekar, M Muranjan, U Dave, P Tamhankar, V Khanna, E Jasinge, S Nampoothiri, S Kumar, F Sheth, S Gupta, J Sheth (2014). Novel mutations in the Glucocerebrosidase gene of Indian patients with Gaucher disease. Journal of Human Genetics 59:223-228. doi:10.1038/jhg.2014.5 Books/Chapter: 1. Role of Fluorescence In-Situ Hybridization in Prenatal Diagnosis. In Prenatal Diagnosis, Scientific manual. Publ. ISPAT, Pp. 19-24. 2006 2. Lysosomal storage disorders: Less common but common metabolic disease. In Prenatal Diagnosis, Scientific manual. Publ. ISPAT, Pp.152-162. 2006. 3. Genetics in Clinical Practice – Symptoms, Diagnosis and Therapy. Editors: Dr Jayesh Sheth and Dr Frenny Sheth. Publishers: Jaypee brothers. 2013. ISBN:978-93-5152-153-2 Posters: