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Neurogenetics|January 7, 2017
Homozygous mutation, p.Pro304His, in IDH3A, encoding isocitrate dehydrogenase subunit is associated with severe encephalopathy in infancyAviva Fattal-Valevski, Hila Eliyahu, NItai D Fraenkel, et al.American Journal of Medical Genetics. Part A|May 30, 2025
Long-Read Whole-Genome Sequencing Uncovers a Deletion Upstream to HOXD13 Causing SynpolydactylyJonathan Rips, Rivka Birnbaum, Chaim Jalas, et al.Journal of Child Neurology|September 25, 2002
Clinical characteristics and muscle pathology in myopathic mitochondrial DNA depletionYoram Nevo, Dov Soffer, Miriam Kutai, et al.European Journal of Medical Genetics|April 16, 2018
MARS variant associated with both recessive interstitial lung and liver disease and dominant Charcot-Marie-Tooth diseaseJonathan Rips, Rebecca Meyer-Schuman, Oded Breuer, et al.American Journal of Medical Genetics. Part A|October 13, 2011
A deleterious founder mutation in the BMPER gene causes diaphanospondylodysostosis (DSD)Ziva Ben-Neriah, Rachel Michaelson-Cohen, Michal Inbar-Feigenberg, et al.American Journal of Human Genetics|December 11, 2008
Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystoniaSimon Edvardson, Hiroko Hama, Avraham Shaag, et al.Journal of Medical Genetics|September 14, 2013
Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposisSimon Edvardson, Angel Ashikov, Chaim Jalas, et al.Molecular Genetics and Metabolism|August 5, 2010
l-arginine:glycine amidinotransferase (AGAT) deficiency: clinical presentation and response to treatment in two patients with a novel mutationSimon Edvardson, Stanley H Korman, Amir Livne, et al.Nature Communications|February 7, 2019
Combined loss of LAP1B and LAP1C results in an early onset multisystemic nuclear envelopathyBoris Fichtman, Fadia Zagairy, Nitzan Biran, et al.European Journal of Human Genetics : EJHG|November 28, 2013
Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathyRonen Spiegel, Ann Saada, Jonatan Halvardson, et al.Pageof 10