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Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders Dalila Pinto, Elsa Delaby, Daniele Merico, Mafalda Barbosa, Alison Merikangas, Lambertus Klei, Bhooma Thiruvahindrapuram, Xiao Xu, Robert Ziman, Zhuozhi Wang, Jacob A.S. Vorstman, Ann Thompson, Regina Regan, Marion Pilorge, Giovanna Pellecchia, Alistair T. Pagnamenta, Bárbara Oliveira, Christian R. Marshall, Tiago R. Magalhaes, Jennifer K. Lowe, Jennifer L. Howe, Anthony J. Griswold, John Gilbert, Eftichia Duketis, Beth A. Dombroski, Maretha V. De Jonge, Michael Cuccaro, Emily L. Crawford, Catarina T. Correia, Judith Conroy, Inês C. Conceição, Andreas G. Chiocchetti, Jillian P. Casey, Guiqing Cai, Christelle Cabrol, Nadia Bolshakova, Elena Bacchelli, Richard Anney, Steven Gallinger, Michelle Cotterchio, Graham Casey, Lonnie Zwaigenbaum, Kerstin Wittemeyer, Kirsty Wing, Simon Wallace, Herman van Engeland, Ana Tryfon, Susanne Thomson, Latha Soorya, Bernadette Rogé, Wendy Roberts, Fritz Poustka, Susana Mouga, Nancy Minshew, L. Alison McInnes, Susan G. McGrew, Catherine Lord, Marion Leboyer, Ann S. Le Couteur, Alexander Kolevzon, Patricia Jiménez González, Suma Jacob, Richard Holt, Stephen Guter, Jonathan Green, Andrew Green, Christopher Gillberg, Bridget A. Fernandez, Frederico Duque, Richard Delorme, Geraldine Dawson, Pauline Chaste, Cátia Café, Sean Brennan, Thomas Bourgeron, Patrick F. Bolton, Sven Bölte, Raphael Bernier, Gillian Baird, Anthony J. Bailey, Evdokia Anagnostou, Joana Almeida, Ellen M. Wijsman, Veronica J. Vieland, Astrid M. Vicente, Gerard D. Schellenberg, Margaret Pericak-Vance, Andrew D. Paterson, Jeremy R. Parr, Guiomar Oliveira, John I. Nurnberger, Anthony P. Monaco, Elena Maestrini, Sabine M. Klauck, Hakon Hakonarson, Jonathan L. Haines, Daniel H. Geschwind, Christine M. Freitag, Susan E. Folstein, Sean Ennis, Hilary Coon, Agatino Battaglia, Peter Szatmari, James S. Sutcliffe, Joachim Hallmayer, Michael Gill, Edwin H. Cook, Joseph D. Buxbaum, Bernie Devlin, Louise Gallagher, Catalina Betancur, Stephen W. Scherer The American Journal of Human Genetics Volume 94, Issue 5, Pages 677-694 (May 2014) DOI: 10.1016/j.ajhg.2014.03.018 Copyright © 2014 The Authors Terms and Conditions

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Page 1: Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders Dalila Pinto, Elsa Delaby, Daniele Merico, Mafalda Barbosa, Alison

Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders 

Dalila Pinto, Elsa Delaby, Daniele Merico, Mafalda Barbosa, Alison Merikangas, Lambertus Klei, Bhooma Thiruvahindrapuram, Xiao Xu, Robert Ziman, Zhuozhi Wang, Jacob A.S. Vorstman, Ann Thompson, Regina Regan, Marion Pilorge, Giovanna Pellecchia, Alistair T. Pagnamenta, Bárbara Oliveira, Christian R. Marshall, Tiago R. Magalhaes, Jennifer K. Lowe, Jennifer L. Howe, Anthony J. Griswold, John Gilbert, Eftichia Duketis, Beth A. Dombroski, Maretha V. De Jonge, Michael Cuccaro, Emily L. Crawford, Catarina T. Correia,

Judith Conroy, Inês C. Conceição, Andreas G. Chiocchetti, Jillian P. Casey, Guiqing Cai, Christelle Cabrol, Nadia Bolshakova, Elena Bacchelli, Richard Anney, Steven Gallinger, Michelle Cotterchio, Graham Casey, Lonnie Zwaigenbaum, Kerstin Wittemeyer, Kirsty

Wing, Simon Wallace, Herman van Engeland, Ana Tryfon, Susanne Thomson, Latha Soorya, Bernadette Rogé, Wendy Roberts, Fritz Poustka, Susana Mouga, Nancy Minshew, L. Alison McInnes, Susan G. McGrew, Catherine Lord, Marion Leboyer, Ann S. Le Couteur,

Alexander Kolevzon, Patricia Jiménez González, Suma Jacob, Richard Holt, Stephen Guter, Jonathan Green, Andrew Green, Christopher Gillberg, Bridget A. Fernandez, Frederico Duque, Richard Delorme, Geraldine Dawson, Pauline Chaste, Cátia Café, Sean Brennan, Thomas Bourgeron, Patrick F. Bolton, Sven Bölte, Raphael Bernier, Gillian Baird, Anthony J. Bailey, Evdokia Anagnostou,

Joana Almeida, Ellen M. Wijsman, Veronica J. Vieland, Astrid M. Vicente, Gerard D. Schellenberg, Margaret Pericak-Vance, Andrew D. Paterson, Jeremy R. Parr, Guiomar Oliveira, John I. Nurnberger, Anthony P. Monaco, Elena Maestrini, Sabine M. Klauck, Hakon

Hakonarson, Jonathan L. Haines, Daniel H. Geschwind, Christine M. Freitag, Susan E. Folstein, Sean Ennis, Hilary Coon, Agatino Battaglia, Peter Szatmari, James S. Sutcliffe, Joachim Hallmayer, Michael Gill, Edwin H. Cook, Joseph D. Buxbaum, Bernie Devlin,

Louise Gallagher, Catalina Betancur, Stephen W. Scherer 

The American Journal of Human Genetics Volume 94, Issue 5, Pages 677-694 (May 2014)

DOI: 10.1016/j.ajhg.2014.03.018

Copyright © 2014 The Authors Terms and Conditions

Page 2: Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders Dalila Pinto, Elsa Delaby, Daniele Merico, Mafalda Barbosa, Alison

Figure 1

The American Journal of Human Genetics 2014 94, 677-694DOI: (10.1016/j.ajhg.2014.03.018) Copyright © 2014 The Authors Terms and Conditions

Page 3: Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders Dalila Pinto, Elsa Delaby, Daniele Merico, Mafalda Barbosa, Alison

Figure 2

The American Journal of Human Genetics 2014 94, 677-694DOI: (10.1016/j.ajhg.2014.03.018) Copyright © 2014 The Authors Terms and Conditions

Page 4: Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders Dalila Pinto, Elsa Delaby, Daniele Merico, Mafalda Barbosa, Alison

Figure 3

The American Journal of Human Genetics 2014 94, 677-694DOI: (10.1016/j.ajhg.2014.03.018) Copyright © 2014 The Authors Terms and Conditions

Page 5: Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders Dalila Pinto, Elsa Delaby, Daniele Merico, Mafalda Barbosa, Alison

Figure 4

The American Journal of Human Genetics 2014 94, 677-694DOI: (10.1016/j.ajhg.2014.03.018) Copyright © 2014 The Authors Terms and Conditions

Page 6: Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders Dalila Pinto, Elsa Delaby, Daniele Merico, Mafalda Barbosa, Alison

Figure 5

The American Journal of Human Genetics 2014 94, 677-694DOI: (10.1016/j.ajhg.2014.03.018) Copyright © 2014 The Authors Terms and Conditions

Page 7: Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders Dalila Pinto, Elsa Delaby, Daniele Merico, Mafalda Barbosa, Alison

Figure 6

The American Journal of Human Genetics 2014 94, 677-694DOI: (10.1016/j.ajhg.2014.03.018) Copyright © 2014 The Authors Terms and Conditions