Director, Genetics Institute, Assaf Harofeh, Zerifin
Affiliated to Department of Human Molecular Genetics and Biochemistry
Sackler Faculty of Medicine
Tel Aviv University
Email: oreish@post.tau.ac.il
URL: http://www.assafh.org/Labs/GeneticsInstitute/Pages/default.aspx
New Genes Identification and Genotype Phenotype Correlation
Positions:
Associate Professor of Pediatrics and Human Molecular Genetics and Biochemistry, Sackler School of Medicine TAU
Committee Member of Israel Medical Association, Israeli Board of Medical Genetics, American Society of Human Genetics, American Board of Medical Genetics, Institutional Review Board (Helsinki ) Assaf Harofe, Member of Research and Development Committee - Tel Aviv University.
Research:
1).We study genetically undefined families using homozygosity mapping and EXOME analyses –in collaboration with other leading centers- to define the disease causing genes. Once causing mutation is idefined, further functional studies are carried out. We identified at least 5 new genes in the past last decade, that enabled counseling patients and prenatal diagnosis.
2). We investigate the genotype phenotype correlation of newly defined mutations to expand disease spectrum and genetic impacts of genetic disorders.
Publications (2011-present)
Reish O, Regev M, Girafi S, Mashevich M. Sporadic Aneuploidy in PHA-Stimulated Lymphocytes of Trisomies 21, 18 and 13. Cytogenet Genome Res. 2011; 133(2-4):184-189.
Fullston T, Finnis M, Hackett A, Hodgson B, Brueton L, Baynam G, Norman A,
Reish O, Shoubridge C, Gecz J. Screening and cell-based assessment of mutations in the Aristaless-related homeobox (ARX) gene. Clin Genet. 2011,80(6):510-522.
Muhammad E*, Reish O*, Ohno Y, Scheetz T, DeLuca A, Searby C, Regev M, Benyamini L, Fellig Y, Kihara A, Sheffield VC, Parvari R. Congenital myopathy is caused by mutation in HACD1. Hum Mol Genet. 2013, 20:22(25), 5229-5236 Equal contribution*
Pode-Shaked B, Reish O, Aktuglu-Zeybek C, Kesselman D, Dekel B., Bujanover Y, Anikster Y. The bitterness of Glucose/Galactose: Novel Mutations in SLCA1 Gene. J Pediatr Gastoenterol Nutr, 2014 ,58(1):57-60.
Dovev MN, Vaknin Z, Keidar R, Reish O, Meltzer Y, Maymon R. Prenatal diagnosis of triploidy: the experience of Assaf-Harofe Medical Center]. Harefuah. 2014, 153(9):518-21, 559. Hebrew.
Dovev MN, Vaknin Z, Keidar R, Reish O, Meltzer Y, Maymon R. [Prenatal diagnosis of triploidy: the experience of Assaf-Harofe Medical Center]. Harefuah. 2014,153(9):518-21, 559. Hebrew.
Yablonski-Peretz T, , Paluch Shimon S, Soussan Gutman L, Kaplan Y, Dvir A, Barnes-Kedar I, Kadury L, Semenysty V, Noa Efrat (Ben Baruch) N, Victoria Neiman V, Yafit Glasser Y, Michaelson-Cohen R, Katz L, Kaufman B, Talia Golan T, Reish O, Ayala Hubert A, Safra T, Yaron Y , Friedman E. Screening for germline mutations in breast/ovarian cancer susceptibility genes in high-risk families in Israel. Breast Cancer Res and Treat, 2016, 155(1):133-8
Reish O*., Liam A*, Zouella A., Roth Y, Polack-Charcon S., Baboushkin T., Benyamini L., Mussaffi H., Sheffield V., Parvari R. A homozygous NME7 mutation is associated with situs inversus totalis . Hum Mut, 2016, 37(8):727-31. Equal contribution*
Feingold-Zadok M, Chitayat D, Chong K, Injeyan M, Shannon P, Chapmann D,
Maymon R, Pillar N, Reish O. Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita. Prenat Diagn. 2016 Dec 9 [Epub ahead of print]
Grant
2012-2016 US-Israel Binational Science Foundation,
