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Developmental Medicine and Child Neurology|July 27, 2010
Intracerebral large artery disease in Aicardi-Goutières syndrome implicates SAMHD1 in vascular homeostasisVenkateswaran Ramesh, Bruno Bernardi, Altin Stafa, et al.European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|November 7, 2015
TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disabilityGali Heimer, Danit Oz-Levi, Eran Eyal, et al.The Journal of Investigative Dermatology|August 30, 2019
The Role of Desmoglein 1 in Gap Junction Turnover Revealed through the Study of SAM SyndromeEran Cohen-Barak, Lisa M Godsel, Jennifer L Koetsier, et al.Journal of Medical Genetics|August 6, 2025
Exploring the unique characteristics of genes with dual autosomal dominant and recessive inheritance: mechanisms, phenotypes and candidate identificationShlomit Ezer, Tal Sido, Jonathan Rips, et al.Clinical Genetics|March 13, 2016
Expanding the genotypic spectrum of Perrault syndromeL A M Demain, J E Urquhart, J O'Sullivan, et al.Nature Genetics|November 29, 2005
Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)Martin Zenker, Julia Mayerle, Markus M Lerch, et al.Familial Cancer|November 15, 2024
The genetic landscape of Lynch syndrome in the Israeli populationAasem Abu Shtaya, Sofia Naftaly Nathan, Inbal Kedar, et al.Psychological Medicine|October 30, 2015
The epidemiology of traumatic event exposure worldwide: results from the World Mental Health Survey ConsortiumC Benjet, E Bromet, E G Karam, et al.Journal of Medical Genetics|July 14, 2012
Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic HedgehogBenjamin D Solomon, Kelly A Bear, Adrian Wyllie, et al.Nature Genetics|June 16, 2009
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune responseGillian I Rice, Jacquelyn Bond, Aruna Asipu, et al.Pageof 25