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TITLE: The role of rare compound heterozygous events in autism spectrum disorder Full Text
AUTHORS: Bochao Danae Lin; Fabrice Colas; Isaac J Nijman; Jelena Medic; William Brands; Jeremy R Parr; Kristel R van Eijk; Sabine M Klauck; Andreas G Chiocchetti; Christine M Freitag; Elena Maestrini; Elena Bacchelli; Hilary Coon; Astrid Vicente; Guiomar Oliveira; Alistair T Pagnamenta; Louise Gallagher; Sean Ennis; Richard Anney; Thomas Bourgeron; Jurjen J Luykx; Jacob Vorstman; ...More
PUBLISHED: 2020, SOURCE: TRANSLATIONAL PSYCHIATRY, VOLUME: 10, ISSUE: 1

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TITLE: Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders Full Text
AUTHORS: Claire S Leblond; Jutta Heinrich; Richard Delorme; Christian Proepper; Catalina Betancur; Guillaume Huguet; Marina Konyukh; Pauline Chaste; Elodie Ey; Maria Rastam; Henrik Anckarsater; Gudrun Nygren; Carina C Gillberg; Jonas Melke; Roberto Toro; Beatrice Regnault; Fabien Fauchereau; Oriane Mercati; Nathalie Lemiere; David Skuse; Martin Poot; Richard Holt; Anthony P Monaco; Irma Jarvela; Katri Kantojarvi; Raija Vanhala; Sarah Curran; David A Collier; Patrick Bolton; Andreas 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 F Sequeira; Barbara Oliveira; Astrid Vicente ; Guiomar Oliveira ; Dalila Pinto; Stephen W Scherer; Diana Zelenika; Marc Delepine; Mark Lathrop; Dominique Bonneau; Vincent Guinchat; Francoise Devillard; Brigitte Assouline; Marie Christine Mouren; Marion Leboyer; Christopher Gillberg; Tobias M Boeckers; Thomas Bourgeron; ...More
PUBLISHED: 2012, SOURCE: PLOS GENETICS, VOLUME: 8, ISSUE: 2

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