Variable clinical phenotype in two siblings with Aicardi-Goutières syndrome type 6 and a novel mutation in the ADAR gene

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

Gillian Rice, Paul R. Kasher, Gabriella Forte et al. · Nature Genetics · 2012 · 943 citations

Life Sciences, Genetics, Molecular Genetics +9

Characterization of human disease phenotypes associated with mutations in <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, and <i>IFIH1</i>

Yanick J. Crow, Diana Chase, Johanna L. Schmidt et al. · American Journal of Medical Genetics Part A · 2015 · 613 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

Striking intrafamilial phenotypic variability in Aicardi–Goutières syndrome associated with the recurrent Asian founder mutation in <i>RNASEH2C</i>

Julie Vogt, Shakti Agrawal, Zala Ibrahim et al. · American Journal of Medical Genetics Part A · 2013 · 33 citations · Full text

Life Sciences, Genetics, Pediatrics +14

Phenotypic Variability in a Family with Aicardi-Gouti&amp;#232;res Syndrome Due to the Common A177T &amp;lt;i&amp;gt;RNASEH2B&amp;lt;/i&amp;gt; Mutation

Victoria Tüngler, Franziska Schmidt, Steve Hieronimus et al. · Case Reports in Clinical Medicine · 2014 · 12 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16