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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