ProfileOfResearchers

TITLE: CNVs leading to fusion transcripts in individuals with autism spectrum disorder Full Text
AUTHORS: Richard Holt; Nuala H Sykes; Ines C Conceicao; Jean Baptiste Cazier; Richard J L Anney; Guiomar Oliveira ; Louise Gallagher; Astrid Vicente ; Anthony P Monaco; Alistair T Pagnamenta;
PUBLISHED: 2012, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 20, ISSUE: 11

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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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TITLE: Polymorphisms in leucine-rich repeat genes are associated with autism spectrum disorder susceptibility in populations of European ancestry Full Text
AUTHORS: Sousa, I; Clark, T; Holt, R; Pagnamenta, A; Mulder, E; Minderaa, R; Bailey, A; Battaglia, A; Klauck, S; Poustka, F; Monaco, A;
PUBLISHED: 2010, SOURCE: Molecular Autism, VOLUME: 1, ISSUE: 1

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TITLE: Linkage and candidate gene studies of autism spectrum disorders in European populations Full Text
AUTHORS: Holt, R; Barnby, G; Maestrini, E; Bacchelli, E; Brocklebank, D; Sousa, I; Mulder, EJ; Kantojarvi, K; Jarvela, I; Klauck, SM; Poustka, F; Bailey, AJ; Monaco, AP;
PUBLISHED: 2010, SOURCE: European Journal of Human Genetics, VOLUME: 18, ISSUE: 9

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TITLE: MET and autism susceptibility: Family and case-control studies Full Text
AUTHORS: Sousa, I; Clark, TG; Toma, C; Kobayashi, K; Choma, M; Holt, R; Sykes, NH; Lamb, JA; Bailey, AJ; Battaglia, A; Maestrini, E; Monaco, AP;
PUBLISHED: 2009, SOURCE: European Journal of Human Genetics, VOLUME: 17, ISSUE: 6

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