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Nature Communications|September 4, 2015
Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizuresTommy Stödberg, Amy McTague, Arnaud J Ruiz, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 6, 2019
Incidence of mosaicism in 1055 de novo NF2 cases: much higher than previous estimates with high utility of next-generation sequencingD Gareth Evans, Claire L Hartley, Philip T Smith, et al.Journal of Medical Genetics|July 15, 2016
The clinical, biochemical and genetic features associated with <i>RMND1</i>-related mitochondrial diseaseYi Shiau Ng, Charlotte L Alston, Daria Diodato, et al.The Journal of Biological Chemistry|October 11, 2013
New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanismsAnna Bode, Sian-Elin Wood, Jonathan G L Mullins, et al.Nature Genetics|September 25, 2012
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signatureGillian I Rice, Paul R Kasher, Gabriella M A Forte, et al.The Lancet. Neurology|November 5, 2013
Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control studyGillian I Rice, Gabriella M A Forte, Marcin Szynkiewicz, et al.American Journal of Medical Genetics. Part A|January 22, 2015
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1Yanick J Crow, Diana S Chase, Johanna Lowenstein Schmidt, et al.Pageof 4