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The Genetics research laboratory

A basic research driven by clinical challenges

Under construction, more information to be published.

Prof. Tzipora Falik-Zaccai, MD

Research interests

COG6-congenital disorder of glycosylation

Genetic testing and counseling for ethno-cultural minorities

Tailored genetic counseling

Whole exome sequencing (WES)

Publications

‘LEADERS’: A culturally tailored approach to genetic counseling for minority populations

Cohen Kfir N, Rudolf M, Bentwich ME, Dickman N, Falik-Zaccai TC.

J Genet Couns, 2021

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The role of orotic acid measurement in routine newborn screening for urea cycle disorders

Staretz-Chacham O, Daas S, Ulanovsky I, Blau A, Rostami N, Saraf-Levy T, Abu Salah N, Anikster Y, Banne E, Dar D, Dumin E, Fattal-Valevski A, Falik-Zaccai T, Hershkovitz E, Josefsberg S, Khammash H, Keidar R, Korman SH, Landau Y, Lerman-Sagie T, Mandel D, Mandel H, Marom R, Morag I, Nadir E, Yosha-Orpaz N, Pode-Shakked B, Pras E, Reznik-Wolf H, Saada A, Segel R, Shaag A, Shaul Lotan N, Spiegel R, Tal G, Vaisid T, Zeharia A, Almashanu S.

J Inherit Metab Dis, 2020

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Mammalian Homologue NME3 of DYNAMO1 Regulates Peroxisome Division

Honsho M, Abe Y, Imoto Y, Chang ZF, Mandel H, Falik-Zaccai TC, Fujiki Y.

Int J Mol Sci, 2020

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Challenges to effective and autonomous genetic testing and counseling for ethno-cultural minorities: a qualitative study

Cohen-Kfir N, Bentwich ME, Kent A, Dickman N, Tanus M, Higazi B, Kalfon L, Rudolf M, Falik-Zaccai TC.

BMC Med Ethics, 2020

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Sedaghatian-type spondylometaphyseal dysplasia: Whole exome sequencing in neonatal dry blood spots enabled identification of a novel variant in GPX4

Fedida A, Ben Harouch S, Kalfon L, Abunassar Z, Omari H, Mandel H, Falik-Zaccai TC.

Eur J Med Genet, 2020

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De novo STXBP1 mutation in a child with developmental delay and spasticity reveals a major structural alteration in the interface with syntaxin 1A

Banne E, Falik-Zaccai T, Brielle E, Kalfon L, Ladany H, Klinger D, Schneidman-Duhovny D, Linial M.

Am J Med Genet B Neuropsychiatr Genet, 2020

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COG6-CDG: Expanding the phenotype with emphasis on glycosylation defects involved in the causation of male disorders of sex development

Mandel H, Cohen Kfir N, Fedida A, Shuster Biton E, Odeh M, Kalfon L, Ben-Harouch S, Fleischer Sheffer V, Hoffman Y, Goldberg Y, Dinwiddie A, Dumin E, Eran A, Apel-Sarid L, Tiosano D, Falik-Zaccai TC.

Clin Genet, 2020

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Genetic counseling of high-risk isolated populations: A worldwide challenge

Sagi-Dain L, Weissman I, Cohen-Kfir N, Kalfon L, Edri N, Shasha Lavski H, Peleg A, Falik-Zaccai TC.

Birth Defects Res, 2020

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A clinically validated whole genome pipeline for structural variant detection and analysis

Neerman N, Faust G, Meeks N, Modai S, Kalfon L, Falik-Zaccai T, Kaplun A.

BMC Genomics, 2019

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De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies

Platzer K, Sticht H, Edwards SL, Allen W, Angione KM, Bonati MT, Brasington C, Cho MT, Demmer LA, Falik-Zaccai T, Gamble CN, Hellenbroich Y, Iascone M, Kok F, Mahida S, Mandel H, Marquardt T, McWalter K, Panis B, Pepler A, Pinz H, Ramos L, Shinde DN, Smith-Hicks C, Stegmann APA, Stöbe P, Stumpel CTRM, Wilson C, Lemke JR, Di Donato N, Miller KG, Jamra R.

Am J Hum Genet, 2019

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