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Nature Genetics|April 2, 2014
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signalingGillian I Rice, Yoandris Del Toro Duany, Emma M Jenkinson, et al.Nature Genetics|November 24, 2020
cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processingCarolina Uggenti, Alice Lepelley, Marine Depp, 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.Human Mutation|January 4, 2020
Genetic and phenotypic spectrum associated with IFIH1 gain-of-functionGillian I Rice, Sehoon Park, Francesco Gavazzi, 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|October 8, 2020
Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrumYanick J Crow, Heather Marshall, Gillian I Rice, et al.Nature Genetics|January 24, 2012
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plusBeverley H Anderson, Paul R Kasher, Josephine Mayer, et al.Nature Genetics|August 30, 2016
Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cystsEmma M Jenkinson, Mathieu P Rodero, Paul R Kasher, et al.American Journal of Human Genetics|September 12, 2007
Clinical and molecular phenotype of Aicardi-Goutieres syndromeGillian Rice, Teresa Patrick, Rekha Parmar, et al.Nature|November 29, 2023
A resonant sextuplet of sub-Neptunes transiting the bright star HD 110067R Luque, H P Osborn, A Leleu, et al.Pageof 49