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Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

Gillian Rice, Yoandris del Toro Duany, Emma M. Jenkinson, Gabriella Forte, Beverley Anderson, Giada Ariaudo, Brigitte Bader‐Meunier, Eileen Baildam, Roberta Battini, Michael W. Beresford, Manuela Casarano, Mondher Chouchane, Rolando Cimaz, Abigail E. Collins, Nuno Cordeiro, Russell C. Dale, Joyce Davidson, Liesbeth De Waele, Isabelle Desguerre, Laurence Faivre, Elisa Fazzi, Bertrand Isidor, Lieven Lagae, Andrew Latchman, Pierre Lebon, Chumei Li, John H. Livingston, Charles Marques Lourenço, Maria Margherita Mancardi, Alice Masurel‐Paulet, Iain B. McInnes, Manoj P. Menezes, Cyril Mignot, James O’Sullivan, Simona Orcesi, Paolo Picco, Enrica Riva, Robert A. Robinson, Diana Rodriguez, E. Salvatici, Christiaan Scott, Marta Szybowska, John Tolmie, Adeline Vanderver, Catherine Vanhulle, José Pedro Vieira, Kate Webb, Robyn Whitney, Simon G. Williams, Lynne A. Wolfe, Sameer M. Zuberi, Sun Hur, Yanick J. Crow

Nature Genetics, 2014

Manchester Academic Health Science Centre, University of Manchester, Boston Children's Hospital, Harvard University, Fondazione Istituto Neurologico Nazionale Casimiro Mondino, University of Pavia, Assistance Publique – Hôpitaux de Paris, Inserm, Institut des Maladies Génétiques Imagine, National Health Service, Alder Hey Children's NHS Foundation Trust, Istituti di Ricovero e Cura a Carattere Scientifico, Fondazione Stella Maris, Centre Hospitalier Universitaire Dijon Bourgogne, Meyer Children's Hospital, University of Florence, University of Colorado Denver, NHS Ayrshire and Arran, University of Sydney, Children's Hospital at Westmead, Royal Hospital for Children, KU Leuven, Université de Bourgogne, Hôpital d'Enfants, University of Brescia, Génétique Médicale & Génomique Fonctionelle, Centre Hospitalier Universitaire de Nantes, McMaster University, McMaster Children's Hospital, Université Paris Cité, Délégation Paris 5, Leeds Teaching Hospitals NHS Trust, Clinics Hospital of Ribeirão Preto, Universidade de São Paulo, Istituto Giannina Gaslini, University of Glasgow, Pitié-Salpêtrière Hospital, Sorbonne Université, University of Milan, Ospedale San Paolo, University College London, Great Ormond Street Hospital, Hôpitaux Universitaires Paris-Ouest, Red Cross War Memorial Children's Hospital, University of Cape Town, Southern General Hospital, Children's National, Université de Rouen Normandie, Hôpital Charles-Nicolle, Hospital de Dona Estefânia, Centro Hospitalar de Lisboa Central, Office of the Director, National Institutes of Health

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