Search: (WFRF:(Monaco Anthony P)) pers:(Le Couteur Ann) pers:(Bacchelli Elena) pers:(Battaglia Agatino) >
Convergence of Gene...
Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders.
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Pinto, Dalila (author)
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Delaby, Elsa (author)
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Merico, Daniele (author)
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Barbosa, Mafalda (author)
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Merikangas, Alison (author)
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Klei, Lambertus (author)
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Thiruvahindrapuram, Bhooma (author)
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Xu, Xiao (author)
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Ziman, Robert (author)
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Wang, Zhuozhi (author)
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Vorstman, Jacob A S (author)
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Thompson, Ann (author)
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Regan, Regina (author)
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Pilorge, Marion (author)
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Pellecchia, Giovanna (author)
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Pagnamenta, Alistair T (author)
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Oliveira, Bárbara (author)
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Marshall, Christian R (author)
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Magalhaes, Tiago R (author)
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Lowe, Jennifer K (author)
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Howe, Jennifer L (author)
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Griswold, Anthony J (author)
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Gilbert, John (author)
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Duketis, Eftichia (author)
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Dombroski, Beth A (author)
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De Jonge, Maretha V (author)
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Cuccaro, Michael (author)
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Crawford, Emily L (author)
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Correia, Catarina T (author)
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Conroy, Judith (author)
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Conceição, Inês C (author)
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Chiocchetti, Andreas G (author)
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Casey, Jillian P (author)
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Cai, Guiqing (author)
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Cabrol, Christelle (author)
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Bolshakova, Nadia (author)
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Bacchelli, Elena (author)
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Anney, Richard (author)
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Gallinger, Steven (author)
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Cotterchio, Michelle (author)
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Casey, Graham (author)
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Zwaigenbaum, Lonnie (author)
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Wittemeyer, Kerstin (author)
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Wing, Kirsty (author)
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Wallace, Simon (author)
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Van Engeland, Herman (author)
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Tryfon, Ana (author)
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Thomson, Susanne (author)
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Soorya, Latha (author)
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Rogé, Bernadette (author)
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Roberts, Wendy (author)
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Poustka, Fritz (author)
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Mouga, Susana (author)
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Minshew, Nancy (author)
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McInnes, L Alison (author)
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McGrew, Susan G (author)
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Lord, Catherine (author)
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Leboyer, Marion (author)
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Le Couteur, Ann S (author)
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Kolevzon, Alexander (author)
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Jiménez González, Patricia (author)
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Jacob, Suma (author)
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Holt, Richard (author)
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Guter, Stephen (author)
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Green, Jonathan (author)
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Green, Andrew (author)
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- Gillberg, Christopher, 1950 (author)
- Gothenburg University,Göteborgs universitet,Gillbergcentrum,Gillberg Neuropsychiatry Centre
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Fernandez, Bridget A (author)
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Duque, Frederico (author)
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Delorme, Richard (author)
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Dawson, Geraldine (author)
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Chaste, Pauline (author)
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Café, Cátia (author)
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Brennan, Sean (author)
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Bourgeron, Thomas (author)
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Bolton, Patrick F (author)
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- Bölte, Sven (author)
- Karolinska Institutet
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Bernier, Raphael (author)
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Baird, Gillian (author)
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Bailey, Anthony J (author)
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Anagnostou, Evdokia (author)
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Almeida, Joana (author)
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Wijsman, Ellen M (author)
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Vieland, Veronica J (author)
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Vicente, Astrid M (author)
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Schellenberg, Gerard D (author)
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Pericak-Vance, Margaret (author)
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Paterson, Andrew D (author)
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Parr, Jeremy R (author)
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Oliveira, Guiomar (author)
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Nurnberger, John I (author)
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Monaco, Anthony P (author)
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Maestrini, Elena (author)
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Klauck, Sabine M (author)
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Hakonarson, Hakon (author)
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Haines, Jonathan L (author)
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Geschwind, Daniel H (author)
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Freitag, Christine M (author)
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Folstein, Susan E (author)
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Ennis, Sean (author)
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Coon, Hilary (author)
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Battaglia, Agatino (author)
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Szatmari, Peter (author)
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Sutcliffe, James S (author)
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Hallmayer, Joachim (author)
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Gill, Michael (author)
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Cook, Edwin H (author)
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Buxbaum, Joseph D (author)
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Devlin, Bernie (author)
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Gallagher, Louise (author)
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Betancur, Catalina (author)
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Scherer, Stephen W (author)
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(creator_code:org_t)
- Elsevier BV, 2014
- 2014
- English.
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In: American journal of human genetics. - : Elsevier BV. - 1537-6605 .- 0002-9297. ; 94:5, s. 677-694
- Related links:
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http://www.cell.com/...
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https://gup.ub.gu.se...
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https://doi.org/10.1...
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http://kipublication...
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Abstract
Subject headings
Close
- Rare copy-number variation (CNV) is an important source of risk for autism spectrum disorders (ASDs). We analyzed 2,446 ASD-affected families and confirmed an excess of genic deletions and duplications in affected versus control groups (1.41-fold, p = 1.0× 10(-5)) and an increase in affected subjects carrying exonic pathogenic CNVs overlapping known loci associated with dominant or X-linked ASD and intellectual disability (odds ratio = 12.62, p = 2.7× 10(-15), ∼3% of ASD subjects). Pathogenic CNVs, often showing variable expressivity, included rare de novo and inherited events at 36 loci, implicating ASD-associated genes (CHD2, HDAC4, and GDI1) previously linked to other neurodevelopmental disorders, as well as other genes such as SETD5, MIR137, and HDAC9. Consistent with hypothesized gender-specific modulators, females with ASD were more likely to have highly penetrant CNVs (p = 0.017) and were also overrepresented among subjects with fragile X syndrome protein targets (p = 0.02). Genes affected by de novo CNVs and/or loss-of-function single-nucleotide variants converged on networks related to neuronal signaling and development, synapse function, and chromatin regulation.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Psykiatri (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Psychiatry (hsv//eng)
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Pinto, Dalila
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Delaby, Elsa
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Merico, Daniele
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Barbosa, Mafalda
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Merikangas, Alis ...
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Klei, Lambertus
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show more...
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Thiruvahindrapur ...
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Xu, Xiao
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Ziman, Robert
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Wang, Zhuozhi
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Vorstman, Jacob ...
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Thompson, Ann
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Regan, Regina
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Pilorge, Marion
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Pellecchia, Giov ...
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Pagnamenta, Alis ...
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Oliveira, Bárbar ...
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Marshall, Christ ...
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Magalhaes, Tiago ...
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Lowe, Jennifer K
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Howe, Jennifer L
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Griswold, Anthon ...
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Gilbert, John
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Duketis, Eftichi ...
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Dombroski, Beth ...
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De Jonge, Mareth ...
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Cuccaro, Michael
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Crawford, Emily ...
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Correia, Catarin ...
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Conroy, Judith
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Conceição, Inês ...
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Chiocchetti, And ...
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Casey, Jillian P
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Cai, Guiqing
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Cabrol, Christel ...
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Bolshakova, Nadi ...
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Bacchelli, Elena
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Anney, Richard
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Gallinger, Steve ...
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Cotterchio, Mich ...
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Casey, Graham
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Zwaigenbaum, Lon ...
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Wittemeyer, Kers ...
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Wing, Kirsty
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Wallace, Simon
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Van Engeland, He ...
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Tryfon, Ana
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Thomson, Susanne
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Soorya, Latha
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Rogé, Bernadette
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Roberts, Wendy
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Poustka, Fritz
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Mouga, Susana
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Minshew, Nancy
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McInnes, L Aliso ...
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McGrew, Susan G
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Lord, Catherine
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Leboyer, Marion
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Le Couteur, Ann ...
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Kolevzon, Alexan ...
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Jiménez González ...
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Jacob, Suma
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Holt, Richard
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Guter, Stephen
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Green, Jonathan
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Green, Andrew
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Gillberg, Christ ...
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Fernandez, Bridg ...
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Duque, Frederico
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Delorme, Richard
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Dawson, Geraldin ...
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Chaste, Pauline
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Café, Cátia
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Brennan, Sean
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Bourgeron, Thoma ...
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Bolton, Patrick ...
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Bölte, Sven
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Bernier, Raphael
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Baird, Gillian
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Bailey, Anthony ...
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Anagnostou, Evdo ...
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Almeida, Joana
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Wijsman, Ellen M
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Vieland, Veronic ...
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Vicente, Astrid ...
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Schellenberg, Ge ...
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Pericak-Vance, M ...
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Paterson, Andrew ...
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Parr, Jeremy R
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Oliveira, Guioma ...
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Nurnberger, John ...
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Monaco, Anthony ...
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Maestrini, Elena
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Klauck, Sabine M
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Hakonarson, Hako ...
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Haines, Jonathan ...
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Geschwind, Danie ...
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Freitag, Christi ...
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Folstein, Susan ...
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Ennis, Sean
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Coon, Hilary
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Battaglia, Agati ...
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Szatmari, Peter
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Sutcliffe, James ...
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Hallmayer, Joach ...
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Gill, Michael
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Cook, Edwin H
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Buxbaum, Joseph ...
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Devlin, Bernie
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Gallagher, Louis ...
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Betancur, Catali ...
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Scherer, Stephen ...
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Psychiatry
- Articles in the publication
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American journal ...
- By the university
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University of Gothenburg
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Karolinska Institutet