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1
Infants and toddlers with autism: The promise and the challenges
In: International journal of speech language pathology. - Abingdon : Informa Healthcare 16 (2014) 1, 11-14
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Yale in vivo Pragmatic Protocol–Administration Procedures (Simmons et al., 2014) ...
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Yale in vivo Pragmatic Protocol–Administration Procedures (Simmons et al., 2014) ...
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Assessing Pragmatic Language in Autism Spectrum Disorder: The Yale in vivo Pragmatic Protocol
In: Communication Disorders Faculty Publications (2014)
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Individual common variants exert weak effects on the risk for autism spectrum disorders.
Anney, Richard; Klei, Lambertus; Pinto, Dalila; Almeida, Joana; Bacchelli, Elena; Baird, Gillian; Bolshakova, Nadia; Bölte, Sven; Bolton, Patrick F; Bourgeron, Thomas; Brennan, Sean; Brian, Jessica; Casey, Jillian; Conroy, Judith; Correia, Catarina; Corsello, Christina; Crawford, Emily L; de Jonge, Maretha; Delorme, Richard; Duketis, Eftichia; Duque, Frederico; Estes, Annette; Farrar, Penny; Fernandez, Bridget A; Folstein, Susan E; Fombonne, Eric; Gilbert, John; Gillberg, Christopher; Glessner, Joseph T; Green, Andrew; Green, Jonathan; Guter, Stephen J; Heron, Elizabeth A; Holt, Richard; Howe, Jennifer L; Hughes, Gillian; Hus, Vanessa; Igliozzi, Roberta; Jacob, Suma; Kenny, Graham P; Kim, Cecilia; Kolevzon, Alexander; Kustanovich, Vlad; Lajonchere, Clara M; Lamb, Janine A; Law-Smith, Miriam; Leboyer, Marion; Le Couteur, Ann; Leventhal, Bennett L; Liu, Xiao-Qing; Lombard, Frances; Lord, Catherine; Lotspeich, Linda; Lund, Sabata C; Magalhaes, Tiago R; Mantoulan, Carine; McDougle, Christopher J; Melhem, Nadine M; Merikangas, Alison; Minshew, Nancy J; Mirza, Ghazala K; Munson, Jeff; Noakes, Carolyn; Nygren, Gudrun; Papanikolaou, Katerina; Pagnamenta, Alistair T; Parrini, Barbara; Paton, Tara; Pickles, Andrew; Posey, David J; Poustka, Fritz; Ragoussis, Jiannis; Regan, Regina; Roberts, Wendy; Roeder, Kathryn; Roge, Bernadette; Rutter, Michael L; Schlitt, Sabine; Shah, Naisha; Sheffield, Val C; Soorya, Latha; Sousa, Inês; Stoppioni, Vera; Sykes, Nuala; Tancredi, Raffaella; Thompson, Ann P; Thomson, Susanne; Tryfon, Ana; Tsiantis, John; Van Engeland, Herman; Vincent, John B; Volkmar, Fred; Vorstman, JAS; Wallace, Simon; Wing, Kirsty; Wittemeyer, Kerstin; Wood, Shawn; Zurawiecki, Danielle; Zwaigenbaum, Lonnie; Bailey, Anthony J
In: Human molecular genetics, vol 21, iss 21 (2012)
Abstract: While it is apparent that rare variation can play an important role in the genetic architecture of autism spectrum disorders (ASDs), the contribution of common variation to the risk of developing ASD is less clear. To produce a more comprehensive picture, we report Stage 2 of the Autism Genome Project genome-wide association study, adding 1301 ASD families and bringing the total to 2705 families analysed (Stages 1 and 2). In addition to evaluating the association of individual single nucleotide polymorphisms (SNPs), we also sought evidence that common variants, en masse, might affect the risk. Despite genotyping over a million SNPs covering the genome, no single SNP shows significant association with ASD or selected phenotypes at a genome-wide level. The SNP that achieves the smallest P-value from secondary analyses is rs1718101. It falls in CNTNAP2, a gene previously implicated in susceptibility for ASD. This SNP also shows modest association with age of word/phrase acquisition in ASD subjects, of interest because features of language development are also associated with other variation in CNTNAP2. In contrast, allele scores derived from the transmission of common alleles to Stage 1 cases significantly predict case status in the independent Stage 2 sample. Despite being significant, the variance explained by these allele scores was small (Vm< 1%). Based on results from individual SNPs and their en masse effect on risk, as inferred from the allele score results, it is reasonable to conclude that common variants affect the risk for ASD but their individual effects are modest.
Keyword: Alleles; Biological Sciences; Child; Child Development Disorders; Female; Gene Frequency; Genetic Predisposition to Disease; Genetics & Heredity; Genome-Wide Association Study; Genotype; Humans; Language Development; Male; Medical and Health Sciences; Membrane Proteins; Nerve Tissue Proteins; Pervasive; Polymorphism; Risk Factors; Single Nucleotide
URL: https://escholarship.org/uc/item/7452m9z1
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Individual common variants exert weak effects on the risk for autism spectrum disorders.
In: ISSN: 0964-6906 ; EISSN: 1460-2083 ; Human Molecular Genetics ; https://www.hal.inserm.fr/inserm-00723650 ; Human Molecular Genetics, Oxford University Press (OUP), 2012, 21 (21), pp.4781-92. &#x27E8;10.1093/hmg/dds301&#x27E9; (2012)
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7
Individual common variants exert weak effects on the risk for autism spectrum disorders
Anney, Richard; Klei, Lambertus; Pinto, Dalila. - : Oxford University Press, 2012
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8
Individual common variants exert weak effects on risk for Autism Spectrum Disorders
Anney, Richard; Klei, Lambertus; Pinto, Dalila. - : Oxford University Press, 2012
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9
Individual common variants exert weak effects on the risk for autism spectrum disorderspi
Anney, Richard; Klei, Lambertus; Pinto, Dalila. - : Oxford University Press, 2012
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10
Individual common variants exert weak effects on the risk for autism spectrum disorderspi
Anney, Richard; Klei, Lambertus; Pinto, Dalila. - : Oxford University Press, 2012
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11
Individual common variants exert weak effects on the risk for autism spectrum disorderspi
Anney, Richard; Klei, Lambertus; Pinto, Dalila. - : Oxford University Press, 2012
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12
Pragmatic assessment in autism spectrum disorders : a comparison of a standard measure with parent report
In: Communication disorders quarterly. - Thousand Oaks, Calif. : Sage 29 (2008) 3, 169-176
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13
Differentiating ASD from DLD in Toddlers
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14
Production of Syllable Stress in Speakers with Autism Spectrum Disorders
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15
Differentiating ASD from DLD in Toddlers
In: Communication Disorders Faculty Publications (2008)
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16
Production of Syllable Stress in Speakers with Autism Spectrum Disorders
In: Communication Disorders Faculty Publications (2008)
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17
"Listen my children and you shall hear": auditory preferences in toddlers with autism spectrum disorders
In: Journal of speech, language, and hearing research. - Rockville, Md. : American Speech-Language-Hearing Association 50 (2007) 5, 1350-1364
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18
"Listen My Children and You Shall Hear": Auditory Preferences in Toddlers with Autism Spectrum Disorders
In: Communication Disorders Faculty Publications (2007)
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19
The social brain in autism : perspectives from neuropsychology and neuroimaging
In: Understanding autism (Boca Raton, 2006), p. 323-348
MPI für Psycholinguistik
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20
Head Circumference and Height in Autism: A Study by the Collaborative Program of Excellence in Autism
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