Gillian I. Rice
AuthID: R-00G-JSB
1
TITLE: Comprehensive molecular screening strategy of OCLN in band-like calcification with simplified gyration and polymicrogyria Full Text
AUTHORS: Jenkinson, EM; Livingston, JH; O'Driscoll, MC; Desguerre, I; Nabbout, R; Boddaert, N; Soares, G; Goncalves da Rocha, MG; D'Arrigo, S; Rice, GI; Crow, YJ;
PUBLISHED: 2018, SOURCE: CLINICAL GENETICS, VOLUME: 93, ISSUE: 2
AUTHORS: Jenkinson, EM; Livingston, JH; O'Driscoll, MC; Desguerre, I; Nabbout, R; Boddaert, N; Soares, G; Goncalves da Rocha, MG; D'Arrigo, S; Rice, GI; Crow, YJ;
PUBLISHED: 2018, SOURCE: CLINICAL GENETICS, VOLUME: 93, ISSUE: 2
INDEXED IN: 
WOS
WOS2
TITLE: Autosomal-dominant early-onset spastic paraparesis with brain calcification due to IFIH1 gain-of-function Full Text
AUTHORS: Lyse Ruaud; Gillian I Rice; Christelle Cabrol; Juliette Piard; Mathieu Rodero; Lien van Eyk; Elise Boucher Brischoux; Alain Maertens de Noordhout; Ricardo Mare; Emmanuel Scalais; Fernand Pauly; Francois Guillaume Debray; William Dobyns; Carolina Uggenti; Ji Woo Park; Sun Hur; John H Livingston; Yanick J Crow; Lionel Van Maldergem;
PUBLISHED: 2018, SOURCE: HUMAN MUTATION, VOLUME: 39, ISSUE: 8
AUTHORS: Lyse Ruaud; Gillian I Rice; Christelle Cabrol; Juliette Piard; Mathieu Rodero; Lien van Eyk; Elise Boucher Brischoux; Alain Maertens de Noordhout; Ricardo Mare; Emmanuel Scalais; Fernand Pauly; Francois Guillaume Debray; William Dobyns; Carolina Uggenti; Ji Woo Park; Sun Hur; John H Livingston; Yanick J Crow; Lionel Van Maldergem;
PUBLISHED: 2018, SOURCE: HUMAN MUTATION, VOLUME: 39, ISSUE: 8
INDEXED IN: 
Scopus WOS
Scopus WOS3
TITLE: Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling Full Text
AUTHORS: Gillian I Rice; Yoandris del Toro Duany; Emma M Jenkinson; Gabriella M A Forte; Beverley H Anderson; Giada Ariaudo; Brigitte Bader Meunier; Eileen M Baildam; Roberta Battini; Michael W Beresford; Manuela Casarano; Mondher Chouchane; Rolando Cimaz; Abigail E Collins; Nuno J V Cordeiro; Russell C Dale; Joyce E Davidson; Liesbeth De Waele; Isabelle Desguerre; Laurence Faivre; ...More
PUBLISHED: 2014, SOURCE: NATURE GENETICS, VOLUME: 46, ISSUE: 5
AUTHORS: Gillian I Rice; Yoandris del Toro Duany; Emma M Jenkinson; Gabriella M A Forte; Beverley H Anderson; Giada Ariaudo; Brigitte Bader Meunier; Eileen M Baildam; Roberta Battini; Michael W Beresford; Manuela Casarano; Mondher Chouchane; Rolando Cimaz; Abigail E Collins; Nuno J V Cordeiro; Russell C Dale; Joyce E Davidson; Liesbeth De Waele; Isabelle Desguerre; Laurence Faivre; ...More
PUBLISHED: 2014, SOURCE: NATURE GENETICS, VOLUME: 46, ISSUE: 5
4
TITLE: Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus Full Text
AUTHORS: Beverley H Anderson; Paul R Kasher; Josephine Mayer; Marcin Szynkiewicz; Emma M Jenkinson; Sanjeev S Bhaskar; Jill E Urquhart; Sarah B Daly; Jonathan E Dickerson; James O'Sullivan; Elisabeth Oppliger Leibundgut; Joanne Muter; Ghada M H Abdel Salem; Riyana Babul Hirji; Peter Baxter; Andrea Berger; Luisa Bonafe; Janice E Brunstom Hernandez; Johannes A Buckard; David Chitayat; ...More
PUBLISHED: 2012, SOURCE: NATURE GENETICS, VOLUME: 44, ISSUE: 3
AUTHORS: Beverley H Anderson; Paul R Kasher; Josephine Mayer; Marcin Szynkiewicz; Emma M Jenkinson; Sanjeev S Bhaskar; Jill E Urquhart; Sarah B Daly; Jonathan E Dickerson; James O'Sullivan; Elisabeth Oppliger Leibundgut; Joanne Muter; Ghada M H Abdel Salem; Riyana Babul Hirji; Peter Baxter; Andrea Berger; Luisa Bonafe; Janice E Brunstom Hernandez; Johannes A Buckard; David Chitayat; ...More
PUBLISHED: 2012, SOURCE: NATURE GENETICS, VOLUME: 44, ISSUE: 3
