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Transforming Information Into Knowledge

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

Janecke, Andreas R., Ruijuan Xu, Elisabeth Steichen‐Gersdorf, Siegfried Waldegger, Andreas Entenmann, Thomas Giner, Iris Krainer et al.  Human Mutation


Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C.

Reinstein, Eyal, Ana Gutierrez-Fernandez, Shay Tzur, Concetta Bormans, Shai Marcu, Einav Tayeb-Fligelman, Chana Vinkler et al. European Journal of Human Genetics 24, no. 12 (2016): 1792-1796.


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

Reinstein, Eyal, Shay Tzur, Rony Cohen, Concetta Bormans, and Doron M. Behar.  European Journal of Human Genetics (2016).


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

Cohen, Lior, Shay Tzur, Nitza Goldenberg-Cohen, Concetta Bormans, Doron M. Behar, and Eyal Reinstein. Genetics research 98 (2016): e10.


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

Smirin-Yosef, Pola, Nehama Zuckerman-Levin, Shay Tzur, Yaron Granot, Lior Cohen, Juliane Sachsenweger, Guntram Borck et al. The Journal of Clinical Endocrinology & Metabolism (2016): jc-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