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Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders.

Pinto, Dalila (author)
Delaby, Elsa (author)
Merico, Daniele (author)
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Barbosa, Mafalda (author)
Merikangas, Alison (author)
Klei, Lambertus (author)
Thiruvahindrapuram, Bhooma (author)
Xu, Xiao (author)
Ziman, Robert (author)
Wang, Zhuozhi (author)
Vorstman, Jacob A S (author)
Thompson, Ann (author)
Regan, Regina (author)
Pilorge, Marion (author)
Pellecchia, Giovanna (author)
Pagnamenta, Alistair T (author)
Oliveira, Bárbara (author)
Marshall, Christian R (author)
Magalhaes, Tiago R (author)
Lowe, Jennifer K (author)
Howe, Jennifer L (author)
Griswold, Anthony J (author)
Gilbert, John (author)
Duketis, Eftichia (author)
Dombroski, Beth A (author)
De Jonge, Maretha V (author)
Cuccaro, Michael (author)
Crawford, Emily L (author)
Correia, Catarina T (author)
Conroy, Judith (author)
Conceição, Inês C (author)
Chiocchetti, Andreas G (author)
Casey, Jillian P (author)
Cai, Guiqing (author)
Cabrol, Christelle (author)
Bolshakova, Nadia (author)
Bacchelli, Elena (author)
Anney, Richard (author)
Gallinger, Steven (author)
Cotterchio, Michelle (author)
Casey, Graham (author)
Zwaigenbaum, Lonnie (author)
Wittemeyer, Kerstin (author)
Wing, Kirsty (author)
Wallace, Simon (author)
Van Engeland, Herman (author)
Tryfon, Ana (author)
Thomson, Susanne (author)
Soorya, Latha (author)
Rogé, Bernadette (author)
Roberts, Wendy (author)
Poustka, Fritz (author)
Mouga, Susana (author)
Minshew, Nancy (author)
McInnes, L Alison (author)
McGrew, Susan G (author)
Lord, Catherine (author)
Leboyer, Marion (author)
Le Couteur, Ann S (author)
Kolevzon, Alexander (author)
Jiménez González, Patricia (author)
Jacob, Suma (author)
Holt, Richard (author)
Guter, Stephen (author)
Green, Jonathan (author)
Green, Andrew (author)
Gillberg, Christopher, 1950 (author)
Gothenburg University,Göteborgs universitet,Gillbergcentrum,Gillberg Neuropsychiatry Centre
Fernandez, Bridget A (author)
Duque, Frederico (author)
Delorme, Richard (author)
Dawson, Geraldine (author)
Chaste, Pauline (author)
Café, Cátia (author)
Brennan, Sean (author)
Bourgeron, Thomas (author)
Bolton, Patrick F (author)
Bölte, Sven (author)
Karolinska Institutet
Bernier, Raphael (author)
Baird, Gillian (author)
Bailey, Anthony J (author)
Anagnostou, Evdokia (author)
Almeida, Joana (author)
Wijsman, Ellen M (author)
Vieland, Veronica J (author)
Vicente, Astrid M (author)
Schellenberg, Gerard D (author)
Pericak-Vance, Margaret (author)
Paterson, Andrew D (author)
Parr, Jeremy R (author)
Oliveira, Guiomar (author)
Nurnberger, John I (author)
Monaco, Anthony P (author)
Maestrini, Elena (author)
Klauck, Sabine M (author)
Hakonarson, Hakon (author)
Haines, Jonathan L (author)
Geschwind, Daniel H (author)
Freitag, Christine M (author)
Folstein, Susan E (author)
Ennis, Sean (author)
Coon, Hilary (author)
Battaglia, Agatino (author)
Szatmari, Peter (author)
Sutcliffe, James S (author)
Hallmayer, Joachim (author)
Gill, Michael (author)
Cook, Edwin H (author)
Buxbaum, Joseph D (author)
Devlin, Bernie (author)
Gallagher, Louise (author)
Betancur, Catalina (author)
Scherer, Stephen W (author)
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 (creator_code:org_t)
Elsevier BV, 2014
2014
English.
In: American journal of human genetics. - : Elsevier BV. - 1537-6605 .- 0002-9297. ; 94:5
  • Journal article (peer-reviewed)
Abstract Subject headings
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  • 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)

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ref (subject category)
art (subject category)

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By the author/editor
Pinto, Dalila
Delaby, Elsa
Merico, Daniele
Barbosa, Mafalda
Merikangas, Alis ...
Klei, Lambertus
show more...
Thiruvahindrapur ...
Xu, Xiao
Ziman, Robert
Wang, Zhuozhi
Vorstman, Jacob ...
Thompson, Ann
Regan, Regina
Pilorge, Marion
Pellecchia, Giov ...
Pagnamenta, Alis ...
Oliveira, Bárbar ...
Marshall, Christ ...
Magalhaes, Tiago ...
Lowe, Jennifer K
Howe, Jennifer L
Griswold, Anthon ...
Gilbert, John
Duketis, Eftichi ...
Dombroski, Beth ...
De Jonge, Mareth ...
Cuccaro, Michael
Crawford, Emily ...
Correia, Catarin ...
Conroy, Judith
Conceição, Inês ...
Chiocchetti, And ...
Casey, Jillian P
Cai, Guiqing
Cabrol, Christel ...
Bolshakova, Nadi ...
Bacchelli, Elena
Anney, Richard
Gallinger, Steve ...
Cotterchio, Mich ...
Casey, Graham
Zwaigenbaum, Lon ...
Wittemeyer, Kers ...
Wing, Kirsty
Wallace, Simon
Van Engeland, He ...
Tryfon, Ana
Thomson, Susanne
Soorya, Latha
Rogé, Bernadette
Roberts, Wendy
Poustka, Fritz
Mouga, Susana
Minshew, Nancy
McInnes, L Aliso ...
McGrew, Susan G
Lord, Catherine
Leboyer, Marion
Le Couteur, Ann ...
Kolevzon, Alexan ...
Jiménez González ...
Jacob, Suma
Holt, Richard
Guter, Stephen
Green, Jonathan
Green, Andrew
Gillberg, Christ ...
Fernandez, Bridg ...
Duque, Frederico
Delorme, Richard
Dawson, Geraldin ...
Chaste, Pauline
Café, Cátia
Brennan, Sean
Bourgeron, Thoma ...
Bolton, Patrick ...
Bölte, Sven
Bernier, Raphael
Baird, Gillian
Bailey, Anthony ...
Anagnostou, Evdo ...
Almeida, Joana
Wijsman, Ellen M
Vieland, Veronic ...
Vicente, Astrid ...
Schellenberg, Ge ...
Pericak-Vance, M ...
Paterson, Andrew ...
Parr, Jeremy R
Oliveira, Guioma ...
Nurnberger, John ...
Monaco, Anthony ...
Maestrini, Elena
Klauck, Sabine M
Hakonarson, Hako ...
Haines, Jonathan ...
Geschwind, Danie ...
Freitag, Christi ...
Folstein, Susan ...
Ennis, Sean
Coon, Hilary
Battaglia, Agati ...
Szatmari, Peter
Sutcliffe, James ...
Hallmayer, Joach ...
Gill, Michael
Cook, Edwin H
Buxbaum, Joseph ...
Devlin, Bernie
Gallagher, Louis ...
Betancur, Catali ...
Scherer, Stephen ...
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About the subject
MEDICAL AND HEALTH SCIENCES
MEDICAL AND HEAL ...
and Clinical Medicin ...
and Psychiatry
Articles in the publication
American journal ...
By the university
University of Gothenburg
Karolinska Institutet

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