Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function

Gillian I. Rice (1) , Sehoon Park , Francesco Gavazzi , Laura Adang , Loveline Ayuk , Lien van Eyck (2) , Luis Seabra (3) , Christophe Barrea , Roberta Battini (4) , Alexandre Belot (5) , Mathieu P Rodero (6) , Stefan Berg , Thierry Billette de Villemeur , Annette Bley , Lubov Blumkin , Odile Boespflug‐tanguy , Tracy Briggs , Elise Brimble , Russell Dale , Niklas Darin , François‐guillaume Debray , Valentina de Giorgis , Jonas Denecke , Diane Doummar , Gunilla Drake af Hagelsrum , Despina Eleftheriou , Margherita Estienne , Elisa Fazzi , François Feillet , Jessica Galli , Nicholas Hartog , Julie Harvengt , Bénédicte Heron , Delphine Heron , Diedre Kelly , Dorit Lev , Virginie Levrat , John Livingston , Itxaso Marti , Cyril Mignot , Fanny Mochel , Marie‐christine Nougues , Ilena Oppermann , Belén Pérez‐dueñas , Bernt Popp , Mathieu Rodero , Diana Rodriguez , Veronica Saletti , Cia Sharpe , Davide Tonduti , Gayatri Vadlamani , Keith van Haren , Miguel Tomas Vila , Julie Vogt , Evangeline Wassmer , Arnaud Wiedemann , Callum Wilson , Ayelet Zerem , Christiane Zweier , Sameer Zuberi , Simona Orcesi , Adeline Vanderver , Sun Hur , Yanick Crow

1 MAHSC - Manchester Academic Health Science Centre
2 IMAGINE - U1163 - Imagine - Institut des maladies génétiques
3 Imagine - U1163 - Imagine - Institut des maladies génétiques (IHU)
4 Department of Developmental Neuroscience
5 APY - Autophagie infection et immunité - Autophagy Infection Immunity [CIRI]
6 LCBPT - UMR 8601 - Laboratoire de Chimie et de Biochimie Pharmacologiques et Toxicologiques

Domaines: Sciences du Vivant [q-bio]

Gillian I. Rice, Sehoon Park, Francesco Gavazzi, Laura Adang, Loveline Ayuk, et al.. Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function. Human Mutation, 2020, 41 (4), pp.837-849. ⟨10.1002/HUMU.23975⟩. ⟨hal-02996412⟩