Article

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

Nature genetics - 1 May 2014

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