Clinical Cytogeneticist
Laboratory Chief
Prenatal Diagnosis and Cytogenetics
Department Quality Assurance Manager
Department of Genetics and Metabolic Diseases
Phone: +972-2-6776932
Fax: +972-2 -6777499
E-mail: frumkin@hadassah.org.il
Education
1980-1984 B.Sc. biology, Life Sciences, Hebrew University Jerusalem
1987-1992 Ph.D. “Characterization of a chicken homeobox gene- CdxA” Hebrew University, Faculty of Medicine Cellular Biochemistry Dep. Mentor: Prof. Abraham Fainsod.
1992-1994 Post-Doctoral trainee in human genetic. Identification of candidate genes responsible for holoprosencephaly. Department of Human Genetics, Hospital for Sick Children, Toronto, Canada. Mentor: Prof. Lap-Chee Tsui
1995-1998 Post-Doctoral trainee in neurobiology. Department of Anatomy and Embryology Hadassah Medical School, Hebrew University Jerusalem. Mentor: Dr. Avihu Klar.
Scientific Publications
David A. Zeevi, Ayala Frumkin, Vered Offen-Glasner, Aviram Kogot-Levin, and Gideon Bach. A Potentially Dynamic Lysosomal Regulatory Role For The Endogenous Trpml Proteins The Journal of Pathology accepted.
Frumkin A, Zlotogora J. Genetic screening for reproductive purposes At school: is it a good strategy? Am J Med Genet (A). 2008, 146:26-9.
David A. Zeevi, Ayala Frumkin, Gideon Bach. TRPML and lysosomal function (Biochim Biophys Acta. 2007, 772:851-8.
Yelin R, Schyr RB, Kot H, Zins S, Frumkin A, Pillemer G, Fainsod A. Ethanol exposure affects gene expression in the embryonic organizer and reduces retinoic acid levels. Dev Biol. 2005, 279:193-204
Silverstein S, Lerer I, Sagi M, Frumkin A, Ben-Neriah Z, Abeliovich D. Uniparental disomy in fetuses diagnosed with balanced Robertsonian translocations: risk estimate. Prenat Diagn. 2002, 22:649-51.
Bargal R, Avidan N, Olender T, Ben Asher E, Zeigler M, Raas-Rothschild A, Frumkin A, Bargal R, Avidan N, Ben-Asher E, Olender Z, Zeigler M, Frumkin A, Raas-Rothschild A, Glusman G, Lancet D, Bach G. Identification of the gene causing mucolipidosis type IV. Nat Genet. 2000, 26:118-23.
Feinstein Y, Borrell V, Garcia C, Burstyn-Cohen T, Tzarfaty V, Frumkin A, Nose A, Okamoto H, Higashijima S, Soriano E, Klar A. F-spondin and mindin: two structurally and functionally related genes expressed in the hippocampus that promote outgrowth of embryonic hippocampal neurons.Development. 1999 Aug;126(16):3637-48
Burstyn-Cohen T, Tzarfaty V, Frumkin A, Feinstein Y, Stoeckli E, Klar A. F-Spondin is required for accurate pathfinding of commissural axons at the floor plate. Neuron. 1999 Jun;23(2):233-46.
Burstyn-Cohen T, Frumkin A, Xu YT, Scherer SS, Klar A. Accumulation of F-spondin in injured peripheral nerve promotes the outgrowth of sensory axons.
J Neurosci. 1998 Nov 1;18(21):8875-85.
Belloni E, Muenke M, Roessler E, Traverso G, Siegel-Bartelt J, Frumkin A, Mitchell HF, Donis-Keller H, Helms C, Hing AV, Heng HH, Koop B, Martindale D, Rommens JM, Tsui LC, Scherer SW. Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly. Nat Genet. 1996 Nov;14 (3):353-6.
Frumkin A, Pillemer G, Haffner R, Tarcic N, Gruenbaum Y, Fainsod A. A role for CdxA in gut closure and intestinal epithelia differentiation. Development. 1994 Feb;120 (2):253-63
Frumkin A, Haffner R, Shapira E, Tarcic N, Gruenbaum Y, Fainsod A. The chicken CdxA homeobox gene and axial positioning during gastrulation.
Development. 1993 Jun;118(2):553-62.
Frumkin A, Rangini Z, Ben-Yehuda A, Gruenbaum Y, Fainsod A. A chicken caudal homologue, CHox-cad, is expressed in the epiblast with posterior localization and in the early endodermal lineage. Development. 1991 May;112 (1):207-19.
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