TY - JOUR AU - Geschwind, D. H. PY - 2011 DA - 2011// TI - Genetics of autism spectrum disorders JO - Trends Cogn Sci VL - 15 UR - https://doi.org/10.1016/j.tics.2011.07.003 DO - 10.1016/j.tics.2011.07.003 ID - Geschwind2011 ER - TY - JOUR AU - Gaugler, T. AU - Klei, L. AU - Sanders, S. J. AU - Bodea, C. A. AU - Goldberg, A. P. AU - Lee, A. B. PY - 2014 DA - 2014// TI - Most genetic risk for autism resides with common variation JO - Nat Genet VL - 46 UR - https://doi.org/10.1038/ng.3039 DO - 10.1038/ng.3039 ID - Gaugler2014 ER - TY - JOUR AU - Klei, L. AU - Sanders, S. J. AU - Murtha, M. T. AU - Hus, V. AU - Lowe, J. K. AU - Willsey, A. J. PY - 2012 DA - 2012// TI - Common genetic variants, acting additively, are a major source of risk for autism JO - Mol Autism VL - 3 UR - https://doi.org/10.1186/2040-2392-3-9 DO - 10.1186/2040-2392-3-9 ID - Klei2012 ER - TY - JOUR AU - Grove, J. AU - Ripke, S. AU - Als, T. D. AU - Mattheisen, M. AU - Walters, R. K. AU - Won, H. PY - 2019 DA - 2019// TI - Identification of common genetic risk variants for autism spectrum disorder JO - Nat Genet VL - 51 UR - https://doi.org/10.1038/s41588-019-0344-8 DO - 10.1038/s41588-019-0344-8 ID - Grove2019 ER - TY - JOUR AU - Turley, P. AU - Walters, R. K. AU - Maghzian, O. AU - Okbay, A. AU - Lee, J. J. AU - Fontana, M. A. PY - 2018 DA - 2018// TI - Multi-trait analysis of genome-wide association summary statistics using MTAG JO - Nat Genet VL - 50 UR - https://doi.org/10.1038/s41588-017-0009-4 DO - 10.1038/s41588-017-0009-4 ID - Turley2018 ER - TY - JOUR AU - Buxbaum, J. D. PY - 2009 DA - 2009// TI - Multiple rare variants in the etiology of autism spectrum disorders JO - Dialogues Clin Neurosci VL - 11 UR - https://doi.org/10.31887/DCNS.2009.11.1/jdbuxbaum DO - 10.31887/DCNS.2009.11.1/jdbuxbaum ID - Buxbaum2009 ER - TY - JOUR AU - Brandler, W. M. AU - Sebat, J. PY - 2015 DA - 2015// TI - From De Novo Mutations to Personalized Therapeutic Interventions in Autism JO - Annu Rev Med VL - 66 UR - https://doi.org/10.1146/annurev-med-091113-024550 DO - 10.1146/annurev-med-091113-024550 ID - Brandler2015 ER - TY - JOUR AU - Rubeis, S. AU - He, X. AU - Goldberg, A. P. AU - Poultney, C. S. AU - Samocha, K. AU - Cicek, A. E. PY - 2014 DA - 2014// TI - Synaptic, transcriptional and chromatin genes disrupted in autism JO - Nature VL - 515 UR - https://doi.org/10.1038/nature13772 DO - 10.1038/nature13772 ID - Rubeis2014 ER - TY - JOUR AU - Sanders Stephan, J. AU - He, X. AU - Willsey, A. J. AU - Ercan-Sencicek, A. G. AU - Samocha Kaitlin, E. AU - Cicek, A. E. PY - 2015 DA - 2015// TI - Insights into autism spectrum disorder genomic architecture and biology from 71 risk loci JO - Neuron VL - 87 UR - https://doi.org/10.1016/j.neuron.2015.09.016 DO - 10.1016/j.neuron.2015.09.016 ID - Sanders Stephan2015 ER - TY - JOUR AU - Pinto, D. AU - Pagnamenta, A. T. AU - Klei, L. AU - Anney, R. AU - Merico, D. AU - Regan, R. PY - 2010 DA - 2010// TI - Functional impact of global rare copy number variation in autism spectrum disorders JO - Nature VL - 466 UR - https://doi.org/10.1038/nature09146 DO - 10.1038/nature09146 ID - Pinto2010 ER - TY - JOUR AU - Girirajan, S. AU - Brkanac, Z. AU - Coe, B. P. AU - Baker, C. AU - Vives, L. AU - Vu, T. H. PY - 2011 DA - 2011// TI - Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes JO - PLoS Genet VL - 7 UR - https://doi.org/10.1371/journal.pgen.1002334 DO - 10.1371/journal.pgen.1002334 ID - Girirajan2011 ER - TY - JOUR AU - Satterstrom, F. K. AU - Kosmicki, J. A. AU - Wang, J. AU - Breen, M. S. AU - Rubeis, S. AU - An, J. -. Y. PY - 2020 DA - 2020// TI - Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism JO - Cell. VL - 180 UR - https://doi.org/10.1016/j.cell.2019.12.036 DO - 10.1016/j.cell.2019.12.036 ID - Satterstrom2020 ER - TY - JOUR AU - Wang, K. AU - Li, M. AU - Hadley, D. AU - Liu, R. AU - Glessner, J. AU - Grant, S. F. PY - 2007 DA - 2007// TI - PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data JO - Genome Res VL - 17 UR - https://doi.org/10.1101/gr.6861907 DO - 10.1101/gr.6861907 ID - Wang2007 ER - TY - JOUR AU - Alvares, G. A. AU - Dawson, P. A. AU - Dissanayake, C. AU - Eapen, V. AU - Gratten, J. AU - Grove, R. PY - 2018 DA - 2018// TI - Study protocol for the Australian autism biobank: an international resource to advance autism discovery research JO - BMC Pediatr VL - 18 UR - https://doi.org/10.1186/s12887-018-1255-z DO - 10.1186/s12887-018-1255-z ID - Alvares2018 ER - TY - STD TI - Autism CRC. http://www.autismcrc.com.au. Accessed 3 September 2020. UR - http://www.autismcrc.com.au ID - ref15 ER - TY - JOUR AU - Straker, L. AU - Mountain, J. AU - Jacques, A. AU - White, S. AU - Smith, A. AU - Landau, L. PY - 2017 DA - 2017// TI - Cohort profile: The Western Australian Pregnancy cohort (raine) study-generation 2 JO - Int J Epidemiol VL - 46 ID - Straker2017 ER - TY - STD TI - Lord C, Rutter, M., DiLavore, P. C., Risi, S., Gotham, K., & Bishop, S. L. Autism diagnostic observation schedule, 2nd ed. (ADOS-2). Torrance, CA: Western Psychological Services; 2012. ID - ref17 ER - TY - JOUR AU - Skuse, D. AU - Warrington, R. AU - Bishop, D. AU - Chowdhury, U. AU - Lau, J. AU - Mandy, W. PY - 2004 DA - 2004// TI - The developmental, dimensional and diagnostic interview (3di): a novel computerized assessment for autism spectrum disorders JO - Am Acad Child Adolesc Psychiatry VL - 43 UR - https://doi.org/10.1097/00004583-200405000-00008 DO - 10.1097/00004583-200405000-00008 ID - Skuse2004 ER - TY - STD TI - Sparrow SS, Cicchetti, D., & Balla, D. A. Vineland Adaptive Behavior Scales-2nd edition manual. Minneapolis: NCS: Pearson Inc.; 2005. ID - ref19 ER - TY - STD TI - McIntosh DN, Miller, L.J., Shyu, V., Dunn, W. Development and validation of the Short Sensory Profile. Dunn W, editor. San Antonio, TX: Psychological Corporation; 1999. ID - ref20 ER - TY - BOOK AU - Whitehouse, A. J. O. AU - Bishop, D. V. M. PY - 2009 DA - 2009// TI - Communication checklist -adult PB - Pearson CY - London, UK ID - Whitehouse2009 ER - TY - BOOK AU - Constantino, J. N. PY - 2002 DA - 2002// TI - The social responsiveness scale PB - Western Psychological Services CY - Los Angeles ID - Constantino2002 ER - TY - BOOK AU - Mullen, E. M. PY - 1995 DA - 1995// TI - Mullen scales of early learning PB - American Guidance Service Inc. CY - Circle Pines, MN ID - Mullen1995 ER - TY - BOOK AU - Wechsler, D. PY - 2003 DA - 2003// TI - Wechsler intelligence scale for children PB - PsychCorp CY - San Antonia, TX ID - Wechsler2003 ER - TY - BOOK AU - Wechsler, D. PY - 2011 DA - 2011// TI - Wechsler abbreviated scale of intelligence PB - Pearson CY - San Antonio TX ID - Wechsler2011 ER - TY - JOUR AU - Owens, J. A. AU - Spirito, A. AU - McGuinn, M. PY - 2000 DA - 2000// TI - The Children's Sleep Habits Questionnaire (CSHQ): psychometric properties of a survey instrument for school-aged children JO - Sleep VL - 23 UR - https://doi.org/10.1093/sleep/23.8.1d DO - 10.1093/sleep/23.8.1d ID - Owens2000 ER - TY - JOUR AU - Chang, C. C. AU - Chow, C. C. AU - Tellier, L. C. AU - Vattikuti, S. AU - Purcell, S. M. AU - Lee, J. J. PY - 2015 DA - 2015// TI - Second-generation PLINK: rising to the challenge of larger and richer datasets JO - Gigascience VL - 4 UR - https://doi.org/10.1186/s13742-015-0047-8 DO - 10.1186/s13742-015-0047-8 ID - Chang2015 ER - TY - STD TI - Purcell SM, Chang CC. PLINK 1.9. 2015. ID - ref28 ER - TY - JOUR AU - McCarthy, S. AU - Das, S. AU - Kretzschmar, W. AU - Delaneau, O. AU - Wood, A. R. AU - Teumer, A. PY - 2016 DA - 2016// TI - A reference panel of 64,976 haplotypes for genotype imputation JO - Nat Genet VL - 48 UR - https://doi.org/10.1038/ng.3643 DO - 10.1038/ng.3643 ID - McCarthy2016 ER - TY - JOUR AU - Loh, P. R. AU - Danecek, P. AU - Palamara, P. F. AU - Fuchsberger, C. AU - Reshef, Y. A. AU - Finucane, H. K. AU - Durbin, R. PY - 2016 DA - 2016// TI - Reference-based phasing using the Haplotype Reference Consortium panel JO - Nat Genet VL - 48 UR - https://doi.org/10.1038/ng.3679 DO - 10.1038/ng.3679 ID - Loh2016 ER - TY - JOUR AU - Yang, J. AU - Benyamin, B. AU - McEvoy, B. P. AU - Gordon, S. AU - Henders, A. K. AU - Nyholt, D. R. PY - 2010 DA - 2010// TI - Common SNPs explain a large proportion of the heritability for human height JO - Nat Genet VL - 42 UR - https://doi.org/10.1038/ng.608 DO - 10.1038/ng.608 ID - Yang2010 ER - TY - JOUR AU - Yang, J. AU - Lee, S. H. AU - Goddard, M. E. AU - Visscher, P. M. PY - 2011 DA - 2011// TI - GCTA: a tool for genome-wide complex trait analysis JO - Am J Hum Genet VL - 88 UR - https://doi.org/10.1016/j.ajhg.2010.11.011 DO - 10.1016/j.ajhg.2010.11.011 ID - Yang2011 ER - TY - JOUR AU - Lloyd-Jones, L. R. AU - Zeng, J. AU - Sidorenko, J. AU - Yengo, L. AU - Moser, G. AU - Kemper, K. E. PY - 2019 DA - 2019// TI - Improved polygenic prediction by Bayesian multiple regression on summary statistics JO - Nat Commun VL - 10 UR - https://doi.org/10.1038/s41467-019-12653-0 DO - 10.1038/s41467-019-12653-0 ID - Lloyd-Jones2019 ER - TY - JOUR AU - Savage, J. E. AU - Jansen, P. R. AU - Stringer, S. AU - Watanabe, K. AU - Bryois, J. AU - Leeuw, C. A. PY - 2018 DA - 2018// TI - Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence JO - Nat Genet VL - 50 UR - https://doi.org/10.1038/s41588-018-0152-6 DO - 10.1038/s41588-018-0152-6 ID - Savage2018 ER - TY - JOUR AU - Jones, S. E. AU - Lane, J. M. AU - Wood, A. R. AU - Hees, V. T. AU - Tyrrell, J. AU - Beaumont, R. N. PY - 2019 DA - 2019// TI - Genome-wide association analyses of chronotype in 697,828 individuals provides insights into circadian rhythms JO - Nat Commun VL - 10 UR - https://doi.org/10.1038/s41467-018-08259-7 DO - 10.1038/s41467-018-08259-7 ID - Jones2019 ER - TY - STD TI - Ni G, Zeng J, Revez JR, Wang Y, Ge T, Restaudi R, et al. A comprehensive evaluation of polygenic score methods across cohorts in psychiatric disorders. medRxiv. 2020:2020.09.10.20192310. ID - ref36 ER - TY - STD TI - Chen W, Wu Y, Zheng Z, Qi T, Visscher PM, Zhu Z, et al. Improved analyses of GWAS summary statistics by reducing data heterogeneity and errors. bioRxiv. 2020:2020.07.09.196535. ID - ref37 ER - TY - JOUR AU - Weiner, D. J. AU - Wigdor, E. M. AU - Ripke, S. AU - Walters, R. K. AU - Kosmicki, J. A. AU - Grove, J. PY - 2017 DA - 2017// TI - Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders JO - Nat Genet VL - 49 UR - https://doi.org/10.1038/ng.3863 DO - 10.1038/ng.3863 ID - Weiner2017 ER - TY - JOUR AU - Marshall, C. R. AU - Howrigan, D. P. AU - Merico, D. AU - Thiruvahindrapuram, B. AU - Wu, W. AU - Greer, D. S. PY - 2017 DA - 2017// TI - Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects JO - Nat Genet VL - 49 UR - https://doi.org/10.1038/ng.3725 DO - 10.1038/ng.3725 ID - Marshall2017 ER - TY - JOUR AU - Lawrence, M. AU - Huber, W. AU - Pagès, H. AU - Aboyoun, P. AU - Carlson, M. AU - Gentleman, R. PY - 2013 DA - 2013// TI - Software for computing and annotating genomic ranges JO - PLOS Comput Bio VL - 9 UR - https://doi.org/10.1371/journal.pcbi.1003118 DO - 10.1371/journal.pcbi.1003118 ID - Lawrence2013 ER - TY - JOUR AU - Zarrei, M. AU - MacDonald, J. R. AU - Merico, D. AU - Scherer, S. W. PY - 2015 DA - 2015// TI - A copy number variation map of the human genome JO - Nat Rev Genet VL - 16 UR - https://doi.org/10.1038/nrg3871 DO - 10.1038/nrg3871 ID - Zarrei2015 ER - TY - STD TI - DECIPHER. https://decipher.sanger.ac.uk/about/downloads/data. Accessed 2 September 2020. UR - https://decipher.sanger.ac.uk/about/downloads/data ID - ref42 ER - TY - JOUR AU - Collins, R. L. AU - Brand, H. AU - Karczewski, K. J. AU - Zhao, X. AU - Alföldi, J. AU - Francioli, L. C. PY - 2020 DA - 2020// TI - A structural variation reference for medical and population genetics JO - Nature VL - 581 UR - https://doi.org/10.1038/s41586-020-2287-8 DO - 10.1038/s41586-020-2287-8 ID - Collins2020 ER - TY - STD TI - gnomAD v2. https://gnomad.broadinstitute.org/downloads. Accessed 2 September 2020. UR - https://gnomad.broadinstitute.org/downloads ID - ref44 ER - TY - STD TI - UCSC Genome Browser. https://hgdownload.soe.ucsc.edu/goldenPath/hg19/bigZips/genes/. Accessed 2 December 2020. UR - https://hgdownload.soe.ucsc.edu/goldenPath/hg19/bigZips/genes/ ID - ref45 ER - TY - JOUR AU - Durinck, S. AU - Spellman, P. T. AU - Birney, E. AU - Huber, W. PY - 2009 DA - 2009// TI - Mapping identifiers for the integration of genomic datasets with the R/Bioconductor package biomaRt JO - Nat Protoc VL - 4 UR - https://doi.org/10.1038/nprot.2009.97 DO - 10.1038/nprot.2009.97 ID - Durinck2009 ER - TY - STD TI - ClinGen. https://dosage.clinicalgenome.org/pathogenic_region.shtml. Accessed 2 September 2020. UR - https://dosage.clinicalgenome.org/pathogenic_region.shtml ID - ref47 ER - TY - STD TI - DECIPHER. https://decipher.sanger.ac.uk/disorders/syndromes/list. Accessed 2 September 2020. UR - https://decipher.sanger.ac.uk/disorders/syndromes/list ID - ref48 ER - TY - JOUR AU - Firth, H. V. AU - Richards, S. M. AU - Bevan, A. P. AU - Clayton, S. AU - Corpas, M. AU - Rajan, D. PY - 2009 DA - 2009// TI - DECIPHER: database of chromosomal imbalance and phenotype in humans using ensembl resources JO - Am J Hum Genet VL - 84 UR - https://doi.org/10.1016/j.ajhg.2009.03.010 DO - 10.1016/j.ajhg.2009.03.010 ID - Firth2009 ER - TY - JOUR AU - McRae, J. F. AU - Clayton, S. AU - Fitzgerald, T. W. AU - Kaplanis, J. AU - Prigmore, E. AU - Rajan, D. PY - 2017 DA - 2017// TI - Prevalence and architecture of de novo mutations in developmental disorders JO - Nature VL - 542 UR - https://doi.org/10.1038/nature21062 DO - 10.1038/nature21062 ID - McRae2017 ER - TY - JOUR AU - Cortesi, F. AU - Giannotti, F. AU - Ivanenko, A. AU - Johnson, K. PY - 2010 DA - 2010// TI - Sleep in children with autistic spectrum disorder JO - Sleep Med VL - 11 UR - https://doi.org/10.1016/j.sleep.2010.01.010 DO - 10.1016/j.sleep.2010.01.010 ID - Cortesi2010 ER - TY - JOUR AU - Miles, J. H. PY - 2011 DA - 2011// TI - Autism spectrum disorders—a genetics review JO - Genet Med VL - 13 UR - https://doi.org/10.1097/GIM.0b013e3181ff67ba DO - 10.1097/GIM.0b013e3181ff67ba ID - Miles2011 ER - TY - JOUR AU - Mazurek, M. O. AU - Dovgan, K. AU - Neumeyer, A. M. AU - Malow, B. A. PY - 2019 DA - 2019// TI - Course and predictors of sleep and co-occurring problems in children with autism spectrum disorder JO - J Autism Dev Disord VL - 49 UR - https://doi.org/10.1007/s10803-019-03894-5 DO - 10.1007/s10803-019-03894-5 ID - Mazurek2019 ER - TY - JOUR AU - Reynolds, A. M. AU - Soke, G. N. AU - Sabourin, K. R. AU - Hepburn, S. AU - Katz, T. AU - Wiggins, L. D. PY - 2019 DA - 2019// TI - Sleep problems in 2- to 5-year-olds with autism spectrum disorder and other developmental delays JO - Pediatrics VL - 143 UR - https://doi.org/10.1542/peds.2018-0492 DO - 10.1542/peds.2018-0492 ID - Reynolds2019 ER - TY - JOUR AU - Gel, B. AU - Serra, E. PY - 2017 DA - 2017// TI - karyoploteR: an R/Bioconductor package to plot customizable genomes displaying arbitrary data JO - Bioinformatics VL - 33 UR - https://doi.org/10.1093/bioinformatics/btx346 DO - 10.1093/bioinformatics/btx346 ID - Gel2017 ER - TY - JOUR AU - Gandal, M. J. AU - Leppa, V. AU - Won, H. AU - Parikshak, N. N. AU - Geschwind, D. H. PY - 2016 DA - 2016// TI - The road to precision psychiatry: translating genetics into disease mechanisms JO - Nat Neurosci VL - 19 UR - https://doi.org/10.1038/nn.4409 DO - 10.1038/nn.4409 ID - Gandal2016 ER - TY - JOUR AU - Stulp, G. AU - Simons, M. J. P. AU - Grasman, S. AU - Pollet, T. V. PY - 2017 DA - 2017// TI - Assortative mating for human height: a meta-analysis JO - Am J Hum Biol VL - 29 UR - https://doi.org/10.1002/ajhb.22917 DO - 10.1002/ajhb.22917 ID - Stulp2017 ER - TY - JOUR AU - Connolly, S. AU - Anney, R. AU - Gallagher, L. AU - Heron, E. A. PY - 2019 DA - 2019// TI - Evidence of assortative mating in autism spectrum disorder JO - Biol Psychiatry VL - 86 UR - https://doi.org/10.1016/j.biopsych.2019.04.014 DO - 10.1016/j.biopsych.2019.04.014 ID - Connolly2019 ER - TY - STD TI - UK Biobank. https://www.ukbiobank.ac.uk/. Accessed 2 September 2020. UR - https://www.ukbiobank.ac.uk/ ID - ref59 ER -