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
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
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,
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.
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.
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
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
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.
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.
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.
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