L
Liliana Ruta
Publications - 1
Citations - 367
Liliana Ruta is an academic researcher. The author has contributed to research in topics: Autism. The author has an hindex of 1, co-authored 1 publications receiving 340 citations.
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Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders
Claire S. Leblond,Jutta Heinrich,Richard Delorme,Christian Proepper,Catalina Betancur,Guillaume Huguet,Marina Konyukh,Pauline Chaste,Elodie Ey,Maria Råstam,Henrik Anckarsäter,Gudrun Nygren,I. Carina Gillberg,Jonas Melke,Roberto Toro,Béatrice Regnault,Fabien Fauchereau,Oriane Mercati,Nathalie Lemière,David Skuse,Martin Poot,Richard Holt,Anthony P. Monaco,Irma Järvelä,Katri Kantojärvi,Raija Vanhala,Sarah Curran,David A. Collier,Patrick Bolton,Andreas G. Chiocchetti,Sabine M. Klauck,Fritz Poustka,Christine M. Freitag,Regina Waltes,Marnie Kopp,Eftichia Duketis,Elena Bacchelli,Fiorella Minopoli,Liliana Ruta,Agatino Battaglia,Luigi Mazzone,Elena Maestrini,Ana Filipa Sequeira,Bárbara Oliveira,Astrid M. Vicente,Guiomar Oliveira,Dalila Pinto,Stephen W. Scherer,Diana Zelenika,Marc Delepine,Mark Lathrop,Dominique Bonneau,Vincent Guinchat,Françoise Devillard,Brigitte Assouline,Marie-Christine Mouren,Marion Leboyer,Christopher Gillberg,Tobias M. Boeckers,Thomas Bourgeron +59 more
TL;DR: The identification of a novel 421 kb de novo SHANK2 deletion in a patient with autism strengthens the role of synaptic gene dysfunction in ASD but also highlights the presence of putative modifier genes, in keeping with the “multiple hit model” for ASD.