Research-Center2018-11-08T10:36:15+00:00

Transforming Information Into Knowledge

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Transforming Information Into Knowledge

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Publications

Variant in SCYL1 gene causes aberrant splicing in a family with cerebellar ataxia, recurrent episodes of liver failure, and growth retardation

Adi Shohet, Lior Cohen, Danielle Haguel, Yael Mozer, Noam Shomron, Shay Tzur, Lily Bazak, Lina Basel Salmon, Irit Krause
European Journal of Human Genetics, https://doi.org/10.1038/s41431-018-0268-2

2018

Biallelic mutations in EXOC3L2 cause a novel syndrome that affects the brain, kidney and blood

Adel Shalata1, Supanun Lauhasurayotin, Zvi Leibovitz, Hongbing Li, Diane Hebert, Santhosh Dhanraj, Yarin Hadid, Mohammed Mahroum, Jacob Bajar, Sandro Egenburg, Ayala Arad, Mordechai Shohat, Sami Haddad, Hassan Bakry, Houtan Moshiri, Stephen S Scherer, Shay Tzur, Yigal Dror Journal of Medical Genetics Published Online First: 16 October 2018. doi: 10.1136/jmedgenet-2018-105421n;

2018

The use of AI technologies in genomic interpretation, a pilot study.

R. Attali 1; S. Tzur; O. Farchy; T. Talmy; Y. Yang; C. Eng; C. Shaw; F. Xia; Baylor Genetics WES review group; Baylor Genetics Bioinformatics group

2018

The prevalence of suspected pathogenic mutations for early and adult onset dominant disorders in a healthy Israeli population.

S. Tzur; N. Ruhrman Shahar; L. Bazak; T. Talmy; N. Mizrahi; S. Kovo; R. Attali; H. Ostrer; L. Basel-Salmon;

2018

A Wide Distribution of Pathogenic Mutations among Jews and Middle Easterners of Multiple Origins – insights from 450 exome sequences

A. Rouen, S. Tzur, P. Meyer, R. Attali, M. Daly, E. Friedman, C. Oddoux, K. Upadhyay, H. Ostrer

2018

Whole-exome sequencing reveals POC5 as a novel gene associated with autosomal recessive retinitis pigmentosa.

Monika Weisz Hubshman, Sanne Broekman, Erwin van Wijk, Frans Cremers, Alaa Abu-Diab, Samer Khateb, Shay Tzur, Irina Lagovsky, Pola Smirin-Yosef, Dror Sharon, Lonneke Haer-Wigman, Eyal Banin, Lina Basel-Vanagaite, Erik de Vrieze. Human Molecular Genetics, Volume 27, Issue 4, 15 February 2018, Pages 614–624, https://doi.org/10.1093/hmg/ddx428

2018

A de novo GABRA2 missense mutation in severe early-onset epileptic encephalopathy with a choreiform movement disorder.

Naama Orenstein, Hadassa Goldberg-Stern, Rachel Straussberg, Lily Bazak, Monika Weisz Hubshman, Nesia Kropach, Oded Gilad, Oded Scheuerman, Yahav Dory, Dror Kraus, Shay Tzur, Nurit Magal, Yael Kilim, Vered Shkalim Zemer, Lina Basel-Salmon. Eur J Paediatr Neurol. 2017 Dec 30. pii: S1090-3798(17)31642-2. doi: 10.1016/j.ejpn.2017.12.017

2017

Clinical Heterogeneity and Phenotypic Expansion of NaPi-IIa-Associated Disease

Korcan Demir, Melek Yildiz, Hilla Bahat, Michael Goldman, Nisreen Hassan, Shay Tzur, Ayala Ofir, Daniella Magen. The Journal of Clinical Endocrinology & Metabolism, jc.2017-01592,

2017

Deficiency of the sphingosine‐1‐phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications.

Janecke AR, Xu R, Steichen-Gersdorf E, Waldegger S, Entenmann A, Giner T, Krainer I, Huber LA, Hess MW, Frishberg Y, Barash H, Tzur S, Schreyer-Shafir N, Sukenik-Halevy R, Zehavi T, Raas-Rothschild A, Mao C, Muller T. Hum Mutat. 2017 Apr;38(4):365-372. doi: 10.1002/humu.23192. Epub 2017 Mar 6.

2017

A biallelic mutation in the homologous recombination repair gene SPIDR is associated with human gonadal dysgenesis.

Smirin-Yosef P, Zuckerman-Levin N, Tzur S, Granot Y, Cohen L, Sachsenweger J, Borck G, Lagovsky I, Salmon-Divon M, Wiesmuller L, Basel-Vanagaite L. J Clin Endocrinol Metab. 2017 Feb 1;102(2):681-688. doi: 10.1210/jc.2016-2714.

2017

Evaluating the evidence available for associating genes of unknown significance (GUS) with disease phenotypes: Review of 100 studies.

S. Tzur; N. Mizrahi; E. Feldman; R. Attali

2017

Insights from applying ClinGen framework in evaluating the clinical validity of 30 published studies of gene-disease relationship of monogenic disorders.

R. Attali; O. Farchy; A. Rafaeli; S. Tzur

2017

Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C.

Reinstein E, Gutierrez-Fernandez A, Tzur S, Bormans C, Marcu S, Tayeb-Fligelman E, Vinkler C, Raas-Rothschild A, Irge D, Landau M, Shohat M, Puente XS, Behar DM, Lopez-Otin C. Eur J Hum Genet. 2016 Dec;24(12):1792-1796. doi: 10.1038/ejhg.2016.110. Epub 2016 Sep 7.

2016

Intellectual disability and non-compaction cardiomyopathy with a de novo NONO mutation identified by exome sequencing.

Reinstein E, Tzur S, Cohen R, Bormans C, Behar DM. Eur J Hum Genet. 2016 Nov;24(11):1635-1638. doi: 10.1038/ejhg.2016.72. Epub 2016 Jun 22.

2016

Exome sequencing identified a novel de novo OPA1 mutation in a consanguineous family presenting with optic atrophy.

Cohen L, Tzur S, Goldenberg-Cohen N, Bormans C, Behar DM, Reinstein E. Genet Res (Camb). 2016 Jun 6;98:e10. doi: 10.1017/S0016672316000070.

2016