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Observation of $Z$ production in proton-lead collisions at LHCb
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Observation of $Z$ production in proton-lead collisions at LHCb
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In: Symplectic Elements at Oxford ; Web of Science (Lite) (http://apps.webofknowledge.com/summary.do) ; Scopus (http://www.scopus.com/home.url) ; ArXiv (http://arxiv.org/) (2014)
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Cervical screening uptake and abnormalities among women attending sexual health clinics for HIV care
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Stuttering Patterns in Japanese and English Preschool-Aged and School-Aged Children —as a Progress Report—
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In: Journal of the Phonetic Society of Japan , 17 (2) pp. 83-89. (2013) (2013)
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A narrative synthesis of the impact of primary health care delivery models for refugees in resettlement countries on access, quality and coordination
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| 27 |
Individual common variants exert weak effects on the risk for autism spectrum disorders
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Anney, R.; Klei, L.; Pinto, D.; Almeida, J.; Bacchelli, E.; Baird, G.; Bolshakova, N.; Bölte, Sven; Bolton, P.; Bourgeron, T.; Brennan, S.; Brian, J.; Casey, J.; Conroy, J.; Correia, C.; Corsello, C.; Crawford, E.; De jonge, M.; Delorme, R.; Duketis, E.; Duque, F.; Estes, A.; Farrar, P.; Fernandez, B.; Folstein, S.; Fombonne, E.; Gilbert, J.; Gillberg, C.; Glessner, J.; Green, A.; Green, J.; Guter, S.; Heron, E.; Holt, R.; Howe, J.; Hughes, G.; Hus, V.; Igliozzi, R.; Jacob, S.; Kenny, G.; Kim, C.; Kolevzon, A.; Kustanovich, V.; Lajonchere, C.; Lamb, J.; Law-Smith, M.; Leboyer, M.; Le couteur, A.; Leventhal, B.; Liu, X.; Lombard, F.; Lord, C.; Lotspeich, L.; Lund, S.; Magalhaes, T.; Mantoulan, C.; McDougle, C.; Melhem, N.; Merikangas, A.; Minshew, N.; Mirza, G.; Munson, J.; Noakes, C.; Nygren, G.; Papanikolaou, K.; Pagnamenta, A.; Parrini, B.; Paton, T.; Pickles, A.; Posey, D.; Poustka, F.; Ragoussis, J.; Regan, R.; Roberts, W.; Roeder, K.; Roge, B.; Rutter, M.; Schlitt, S.; Shah, N.; Sheffield, V.; Soorya, L.; Sousa, I.; Stoppioni, V.; Sykes, N.; Tancredi, R.; Thompson, A.; Thomson, S.; Tryfon, A.; Tsiantis, J.; Van Engeland, H.; Vincent, J.; Volkmar, F.; Vorstman, J.. - : Oxford University Press, 2012
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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.
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URL: https://doi.org/10.1093/hmg/dds301
http://hdl.handle.net/20.500.11937/59311
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| 28 |
Individual common variants exert weak effects on the risk for autism spectrum disorderspi.
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In: Symplectic Elements at Oxford ; Europe PubMed Central ; PubMed (http://www.ncbi.nlm.nih.gov/pubmed/) ; Web of Science (Lite) (http://apps.webofknowledge.com/summary.do) ; Scopus (http://www.scopus.com/home.url) ; CrossRef ; ORA review team (2012)
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| 29 |
Cardiorenal end points in a trial of aliskiren for type 2 diabetes.
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In: New England Journal of Medicine, vol. 367, no. 23, pp. 2204-2213 (2012)
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The incidence of cases of aphasia following first stroke referred to speech and language therapy services in Scotland
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| 34 |
Development of Visual-verbal Integration in Working Memory during Childhood and its Relation to Language and Reading
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In: Psychology Dissertations (2005)
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| 36 |
Causes of apparent life threatening events in infants: a systematic review
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| 37 |
Using a study-reading intervention to improve success in a community-college nursing program
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| 38 |
Molecular genetic delineation of a deletion of chromosome 13q12-->q13 in a patient with autism and auditory processing deficits.
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In: Cytogenetic and genome research, vol 98, iss 4 (2002)
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| 39 |
Effects of the number of speech-bands and envelope smoothing condition on the ability to identify intonational patterns through a simulated cochlear implant speech processor
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In: Department of Phonetics and Linguistics, UCL (2002) (2002)
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Empirical evidence for prototypes in linguistic categorization revealed in Mandarin numeral classifiers
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