Laboratory of Molecular Genetics

Head of Laboratory: Mordechai Shohat M.D.

	Telephone:	972-3-9377295/6
	Fax:	972-3-9211478
	E-mail:	mshohat@post.tau.ac.il

Research Topics

1. Genes causing non-specific mental retardation

2. Genes causing other syndromes with mental retardation

   1. Infantile Bilateral Striatal Necrosis

   2. Autosomal recessive mental retardation syndrome with anterior maxillary protrusion and strabismus: MRAMS syndrome

3. Genes causing skeletal dysplasias: Spondyloepimetaphyseal dysplasia Shohat type

4. Maternally transmitted deafness

5. Familial Mediterranean Fever

6. Identification of genes involved in familial coronary artery disease and cardiac defects

7. Identification of genes involved in familial heterotaxy syndrome

8. A retrospective research for the evaluation of the effect of imiglucerase on long and small bones in Gaucher disease

9. Oncogenetics: Genetic factors predisposing to cancer

10. Autosomal dominant nephritis

Selected Publications

1. Basel-Vanagaite L, Zevit N, Har Zahav A, Guo L, Parathath S, Pasmanik-Chor M, McIntyre AD, Wang J, Albin-Kaplanski A, Hartman C, Marom D, Zeharia A, Badir A, Shoerman O, Simon AJ, Rechavi G, Shohat M, Hegele RA, Fisher EA, Shamir R. Transient infantile hypertriglyceridemia, fatty liver, and hepatic fibrosis caused by mutated GPD1, encoding glycerol-3-phosphate dehydrogenase 1. Am J Hum Genet 90:49-60, 2012. MEDLINE

2. Tomashov-Matar R, Biran G, Lagovsky I, Kotler N, Stein A, Fisch B, Sapir O, Shohat M. Severe combined immunodeficiency (SCID): From the detection of a new mutation to preimplantation genetic diagnosis. J Assist Reprod Genet Genet 29:687-692, 2012. MEDLINE

3. Shaffer LG, Dabell MP, Rosenfeld JA, Neill NJ, Ballif BC, Coppinger J, Diwan NR, Chong K, Shohat M, Chitayat D. Referral patterns for microarray testing in prenatal diagnosis. Prenat Diagn 32:344–350, 2012. MEDLINE

4. Shohat M, Halpern GJ (updated April 2012) Familial Mediterranean Fever in: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright, University of Washington, Seattle, 1997-2010. Available at http://www.genetests.org.

5. Basel-Vanagaite L, Dallapiccola B, Ramirez-Solis R, Segref A, Thiele H, Edwards A, Arends MJ, Miró X, White JK, Désir J, Abramowicz M, Dentici ML, Lepri F, Hofmann K, Har-Zahav A, Ryder E, Karp NA, Estabel J, Gerdin AK, Podrini C, Ingham NJ, Altmüller J, N?rnberg G, Frommolt P, Abdelhak S, Pasmanik-Chor M, Konen O, Kelley RI, Shohat M, Nülrnberg P, Flint J, Steel KP, Hoppe T, Kubisch C, Adams DJ, Borck G. Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome. Am J Hum Genet 91:998-1010, 2012. MEDLINE