פרופ' אורית רייש

פדיאטריה סגל אקדמי קליני
פרופ' אורית רייש
טלפון חיצוני: 08-9779617
פקס: 08-9778212

מידע כללי

 

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  

קורות חיים

        

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.

תחומי מחקר

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.

פרסומים

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,

אוניברסיטת תל-אביב, ת.ד. 39040, תל-אביב 6997801
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