American Psychiatric Association. DSM-5 Autism Spectrum Disorder Fact Sheet. Am Psychiatr Assoc. 2014;(October):233–55.
Iakoucheva LM, Muotri AR, Sebat J. Getting to the cores of autism. Cell. 2019;178(6):1287–98. https://doi.org/10.1016/j.cell.2019.07.037.
Article CAS PubMed PubMed Central Google Scholar
Tick B, Bolton P, Happé F, Rutter M, Rijsdijk F. Heritability of autism spectrum disorders: a meta-analysis of twin studies. J Child Psychol Psychiatry Allied Discip. 2016;57(5):585–95.
Dias CM, Walsh CA. Recent advances in understanding the genetic architecture of autism. Annu Rev Genomics Hum Genet. 2020;21:289–304.
Article CAS PubMed Google Scholar
Zhao M, Havrilla J, Peng J, Drye M, Fecher M, Guthrie W, et al. Development of a phenotype ontology for autism spectrum disorder by natural language processing on electronic health records. J Neurodev Disord. 2022;14(1):1–12. https://doi.org/10.1186/s11689-022-09442-0.
Peter B, Dinu V, Liu L, Huentelman M, Naymik M, Lancaster H, et al. Exome sequencing of two siblings with sporadic autism spectrum disorder and severe speech sound disorder suggests pleiotropic and complex effects. Behav Genet. 2019;49(4):399–414. https://doi.org/10.1007/s10519-019-09957-8.
Wang T, Guo H, Xiong B, Stessman HAF, Wu H, Coe BP, et al. De novo genic mutations among a Chinese autism spectrum disorder cohort. Nat Commun. 2016;7(13):1–10. https://doi.org/10.1038/ncomms13316.
Trost B, Engchuan W, Nguyen CM, Thiruvahindrapuram B, Dolzhenko E, Backstrom I, et al. Genome-wide detection of tandem DNA repeats that are expanded in autism. Nature. 2020;586(7827):80–6. https://doi.org/10.1038/s41586-020-2579-z.
Article CAS PubMed PubMed Central Google Scholar
Mitra I, Huang B, Mousavi N, Ma N, Lamkin M, Yanicky R, et al. Patterns of de novo tandem repeat mutations and their role in autism. Nature. 2021;589(7841):246–50.
Article CAS PubMed PubMed Central Google Scholar
Trost B, Thiruvahindrapuram B, Chan A, Engchuan W, Higginbotham E, Howe J, et al. 3. Genomic architecture of autism spectrum disorder from comprehensive whole-genome sequence annotation. Eur Neuropsychopharmacol. 2022;63:e45–6.
Fu JM, Satterstrom FK, Peng M, Brand H, Collins RL, Dong S, et al. Rare coding variation provides insight into the genetic architecture and phenotypic context of autism. Nat Genet. 2022;54(9):1320–31.
Article CAS PubMed PubMed Central Google Scholar
Trost B, Thiruvahindrapuram B, Chan AJS, Engchuan W, Higginbotham EJ, Howe JL, et al. Genomic architecture of autism from comprehensive whole-genome sequence annotation. Cell. 2022;185(23):4409-4427.e18.
Article CAS PubMed Google Scholar
Gaugler T, Klei L, Sanders SJ, Bodea CA, Goldberg AP, Lee AB, et al. Most genetic risk for autism resides with common variation. Nat Genet. 2014;46(8):881–5.
Article CAS PubMed PubMed Central Google Scholar
Lim ET, Raychaudhuri S, Sanders SJ, Stevens C, Sabo A, Macarthur DG, et al. Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders. Neuron. 2014;77(2):235–42.
Doan RN, Lim ET, De Rubeis S, Betancur C, Cutler DJ, Chiocchetti AG, et al. Recessive gene disruptions in autism spectrum disorder. Nat Genet. 2019;51(7):1092–8. https://doi.org/10.1038/s41588-019-0433-8.
Article CAS PubMed PubMed Central Google Scholar
Choi L, An JY. Genetic architecture of autism spectrum disorder: lessons from large-scale genomic studies. Neurosci Biobehav Rev. 2021;128:244–57. https://doi.org/10.1016/j.neubiorev.2021.06.028.
Article CAS PubMed Google Scholar
Tuncay IO, Parmalee NL, Khalil R, Kaur K, Kumar A, Jimale M, et al. Analysis of recent shared ancestry in a familial cohort identifies coding and noncoding autism spectrum disorder variants. NPJ Genom Med. 2022;7(1):13.
Article CAS PubMed PubMed Central Google Scholar
Alshaban F, Aldosari M, Al-Shammari H, El-Hag S, Ghazal I, Tolefat M, et al. Prevalence and correlates of autism spectrum disorder in Qatar: a national study. J Child Psychol Psychiatry Allied Discip. 2019;60(12):1254–68.
Baio J, Wiggins L, Christensen DL, Maenner MJ, Daniels J, Warren Z, et al. Prevalence of autism spectrum disorder among children aged 8 years - autism and developmental disabilities monitoring network, 11 Sites, United States, 2014. MMWR Surveill Summ. 2018;67(6):1.
Article PubMed PubMed Central Google Scholar
Xu G, Strathearn L, Liu B, Bao W. Corrected prevalence of autism spectrum disorder among US children and adolescents. JAMA. 2018;319(5):505.
Article PubMed PubMed Central Google Scholar
Da’as SI, Aamer W, Hasan W, Al-Maraghi A, Al-Kurbi A, Kilani H, et al. PGAP3 Associated with hyperphosphatasia with mental retardation plays a novel role in brain morphogenesis and neuronal wiring at early development. Cells. 2020;9(8):1–25.
Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics. 2009;25(14):1754–60.
Article CAS PubMed PubMed Central Google Scholar
Depristo MA, Banks E, Poplin R, Garimella KV, Maguire JR, Hartl C, et al. A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet. 2011;43(5):491–501.
Article CAS PubMed PubMed Central Google Scholar
Cingolani P, Platts A, Wang LL, Coon M, Nguyen T, Wang L, et al. A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3. Fly (Austin). 2012;6(2):80–92.
Article CAS PubMed Google Scholar
Auton A, Abecasis GR, Altshuler DM, Durbin RM, Bentley DR, Chakravarti A, et al. A global reference for human genetic variation. Nature. 2015;526(7571):68–74.
Karczewski KJ, Francioli LC, Tiao G, Cummings BB, Alföldi J, Wang Q, et al. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 2020;581(7809):434–43.
Article CAS PubMed PubMed Central Google Scholar
Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, et al. Analysis of protein-coding genetic variation in 60,706 humans. Nature. 2016;536(7616):285–91.
Article CAS PubMed PubMed Central Google Scholar
Koboldt DC, Zhang Q, Larson DE, Shen D, McLellan MD, Lin L, et al. VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing. Genome Res. 2012;22(3):568–76.
Article CAS PubMed PubMed Central Google Scholar
Farrell JA. Expanding the horizons of next generation sequencing with RUFUS. Doctoral dissertation, Boston College; 2014.
Garrison E, Marth G. Haplotype-based variant detection from short-read sequencing. 2012;1–9. Available from: http://arxiv.org/abs/1207.3907.
Kohailan M, Aamer W, Syed N, Padmajeya S, Hussein S, Sayed A, et al. Patterns and distribution of de novo mutations in multiplex Middle Eastern families. J Hum Genet. 2022;67(10):579–88.
Article CAS PubMed PubMed Central Google Scholar
Kent WJ, Sugnet CW, Furey TS, Roskin KM, Pringle TH, Zahler AM, et al. The Human Genome Browser at UCSC. Genome Res. 2002;12(6):996–1006.
Article CAS PubMed PubMed Central Google Scholar
Manichaikul A, Mychaleckyj JC, Rich SS, Daly K, Sale M, Chen WM. Robust relationship inference in genome-wide association studies. Bioinformatics. 2010;26(22):2867–73.
Article CAS PubMed PubMed Central Google Scholar
Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MAR, Bender D, et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet. 2007;81(3):559–75.
Article CAS PubMed PubMed Central Google Scholar
Rentzsch P, Witten D, Cooper GM, Shendure J, Kircher M. CADD: predicting the deleteriousness of variants throughout the human genome. Nucleic Acids Res. 2019;47(D1):D886–94.
Article CAS PubMed Google Scholar
Kumar P, Henikoff S, Ng PC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc. 2009;4(7):1073–82.
Article CAS PubMed Google Scholar
Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, et al. A method and server for predicting damaging missense mutations. Nat Methods. 2010;7(4):248–9.
Article CAS PubMed PubMed Central Google Scholar
Chun S, Fay JC. Identification of deleterious mutations within three human genomes. Genome Res. 2009;19(9):1553–61.
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