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Journal of Medical Genetics|December 10, 2013
KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunctionTalya Dor, Yuval Cinnamon, Laure Raymond, et al.
The Journal of Clinical Investigation|December 1, 2022
Nociception and pain in humans lacking a functional TRPV1 channelBen Katz, Rachel Zaguri, Simon Edvardson, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|March 23, 2021
Delineation of the phenotype of MED17-related disease in Caucasus-Jewish familiesAviva Fattal-Valevski, Liat Ben Sira, Tally Lerman-Sagie, et al.
American Journal of Human Genetics|January 1, 2019
Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to ThriveSimon Edvardson, Claudia M Nicolae, Grace J Noh, et al.
Neurogenetics|April 21, 2015
A defect in the retromer accessory protein, SNX27, manifests by infantile myoclonic epilepsy and neurodegenerationNadirah Damseh, Chris M Danson, Motee Al-Ashhab, et al.
Brain : a Journal of Neurology|November 17, 2021
Infantile SOD1 deficiency syndrome caused by a homozygous SOD1 variant with absence of enzyme activityShlomit Ezer, Muhannad Daana, Julien H Park, et al.
Plos One|May 8, 2012
A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonismSimon Edvardson, Yuval Cinnamon, Asaf Ta-Shma, et al.
American Journal of Medical Genetics. Part A|November 14, 2017
A homozygous deleterious CDK10 mutation in a patient with agenesis of corpus callosum, retinopathy, and deafnessVincent J Guen, Simon Edvardson, Nitay D Fraenkel, et al.
Journal of Medical Genetics|January 15, 2014
Conotruncal malformations and absent thymus due to a deleterious NKX2-6 mutationAsaf Ta-Shma, Nael El-lahham, Simon Edvardson, et al.
Gastroenterology|December 6, 2014
Truncating mutation in the nitric oxide synthase 1 gene is associated with infantile achalasiaEyal Shteyer, Simon Edvardson, Sarah L Wynia-Smith, et al.
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