Browsing by Author Forte, Gabriella M A

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Issue DateTitleAuthor(s)Citation
2013Assessment of interferon-related biomarkers in Aicardi-Goutieres syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control studyDale, Russell; Abdel-Hamid, Mohamed S; Ackroyd, Sam; Aeby, Alec; Allcock, Rebecca; Bailey, Kathryn M; Balottin, Umberto; Chase, Diana S; et al, Various; Forte, Gabriella M A; Rice, Gillian I.; Szynkiewicz, Marcin; Children's Hospital Westmead: Paediatrics & Child HealthAssessment of interferon-related biomarkers in Aicardi-Goutieres syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study, Lancet Neurology, vol.12, 12, 2013,pp 1159-1169
2015Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1Dale, Russell; Anderson, Beverley; Chase, Diana S; Crow, Yanick J.; et al, Various; Forte, Gabriella M A; Gornall, Hannah; Helman, Guy; Oojageer, Anthony; Pizzino, Amy; Schmidt, Johanna Lowenstein; Szynkiewicz, Marcin; Childrens Hospital Westmead: Paediatrics & Child HealthCharacterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1, American Journal of Medical Genetics. Part A, vol.167A, 2, 2015,pp 296-312
2014Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signalingDale, Russell; Menezes, Manoj; Anderson, Beverley; Ariaudo, Giada; Bader-Meunier, Brigitte; Baildam, Eileen; Battini, Roberta; Beresford, Michael W; del Toro Duany, Yoandris; et al, Various; Forte, Gabriella M A; Jenkinson, Emma; Rice, Gillian I.; Childrens Hospital Westmead: Paediatrics & Child Health; Clinical and Rehabilitation SciencesGain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling, Nature Genetics, vol.46, 5, 2014,pp 503-509
2014A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1Dale, Russell; Gill, Deepak; Brogan, Paul; De Goede, Christian G E L; et al, Various; Falconer, Alistair; Forte, Gabriella M A; Gonzalez-Martinez, Victoria; Kurian, Manju; Lin, Jean-Pierre; Livingston, John H; Munnich, Arnold; Childrens Hospital Westmead: Paediatrics & Child Health; Western Clinical School: Medicine (Westmead)A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1, Journal of Medical Genetics, vol.51, 2, 2014,pp 76-82