Transforming Information Into Knowledge

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Transforming Information Into Knowledge

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Publications

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

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

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

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

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

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Emedgene is introducing novel applications with the potential to allow clinicians and geneticists perform high-quality analysis of ‘next gen’ data quickly. They are unique in their attempt to implement techniques used in research-based exome analysis in an automated and user-friendly way.  Their most Interesting features are automated reanalysis, prioritization based on both the phenotype and the variant characteristics, and an interactive workflow that can enable a higher diagnosis rate based on additional clinical data.

Karin Weiss MD - Pediatrician and Medical Geneticist, Diplomat of the American Board of Medical Genetics

Emedgene helped our clinical genetic Institute to improve our advanced genetic medicine offering. With emedgene our small team was able to more quickly identify causative mutations, provide clinical interpretation in less time and help more patients. The system is very easy to use, and it helped us improve team communication around patient cases, and was useful for better phenotyping patients. Bottom line – our diagnostic yield is much higher.

Dr. Adel Shalata Pediatrician and Medical Geneticist, Head of The Genetic InstituteBnai Zion Medical Center

I have known emedgene for several years, and I’m pleased to declare that with the help of their excellent platform, I was able to help patients and their families to identify some unique causative variants in unknown genes and to diagnose these patients who went for years undiagnosed. Emedgene is known to me for their commitment and state-of-the-art technology which make emedgene to be in the forefront of science and bring research methodologies to practical use.

Professor Zvi U. Borochowitz, MD, Professor of Pediatrics and Medical GeneticsMedical Genetics Clinic Assuta Medical Center