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American Journal of Human Genetics|November 5, 2016
Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid GlycineAlina Kurolap, Anja Armbruster, Tova Hershkovitz, et al.Familial Cancer|June 14, 2017
Constitutional mismatch repair deficiency and Lynch syndrome among consecutive Arab Bedouins with colorectal cancer in IsraelNaim Abu Freha, Yaara Leibovici Weissman, Alexander Fich, et al.Pediatric Blood & Cancer|November 7, 2015
Constitutional Mismatch Repair Deficiency in Israel: High Proportion of Founder Mutations in MMR Genes and ConsanguinityHagit N Baris, Inbal Barnes-Kedar, Helen Toledano, et al.Human Molecular Genetics|March 23, 2018
Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiencyAnlu Chen, Dov Tiosano, Tulay Guran, et al.BMC Genomics|July 1, 2016
VarElect: the phenotype-based variation prioritizer of the GeneCards SuiteGil Stelzer, Inbar Plaschkes, Danit Oz-Levi, et al.Human Molecular Genetics|April 11, 2015
Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT)Lonneke Haer-Wigman, Hadas Newman, Rina Leibu, et al.Plos Genetics|April 30, 2019
Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunctionDov Tiosano, Hagit N Baris, Anlu Chen, et al.Frontiers in Immunology|July 18, 2018
No Overt Clinical Immunodeficiency Despite Immune Biological Abnormalities in Patients With Constitutional Mismatch Repair DeficiencyVictoria K Tesch, Hanna IJspeert, Andrea Raicht, et al.The American Journal of Gastroenterology|January 6, 2016
Gastrointestinal Findings in the Largest Series of Patients With Hereditary Biallelic Mismatch Repair Deficiency Syndrome: Report from the International ConsortiumMelyssa Aronson, Steven Gallinger, Zane Cohen, et al.Science (New York, N.Y.)|December 9, 2021
PI(3,4)P2-mediated cytokinetic abscission prevents early senescence and cataract formationFederico Gulluni, Lorenzo Prever, Huayi Li, et al.Pageof 4