Hancks DC, Kazazian HH Jr. Roles for retrotransposon insertions in human disease. Mob DNA. 2016;7:9.
Article
PubMed
PubMed Central
Google Scholar
Cordaux R, Hedges DJ, Herke SW, Batzer MA. Estimating the retrotransposition rate of human Alu elements. Gene. 2006;373(Supplement C):134–7.
Article
CAS
PubMed
Google Scholar
Xing J, Zhang Y, Han K, Salem AH, Sen SK, Huff CD, et al. Mobile elements create structural variation: analysis of a complete human genome. Genome Res. 2009;19(9):1516–26.
Article
CAS
PubMed
PubMed Central
Google Scholar
Feusier J, Watkins WS, Thomas J, Farrell A, Witherspoon DJ, Baird L, et al. Pedigree-based estimation of human mobile element retrotransposition rates. Genome Res. 2019;29(10):1567–77.
Article
CAS
PubMed
PubMed Central
Google Scholar
Gardner EJ, Prigmore E, Gallone G, Danecek P, Samocha KE, Handsaker J, et al. Contribution of retrotransposition to developmental disorders. Nat Commun. 2019;10(1):4630.
Article
PubMed
PubMed Central
Google Scholar
Kim J, Hu C, Moufawad El Achkar C, Black LE, Douville J, Larson A, et al. Patient-customized oligonucleotide therapy for a rare genetic disease. N Engl J Med. 2019;381(17):1644–52.
Article
CAS
PubMed
PubMed Central
Google Scholar
American Psychiatric Association. Diagnostic and statistical manual of mental disorders : DSM-5. 5th ed. Washington, DC: American Psychiatric Publishing; 2013. p. xliv. 947 pages p
Book
Google Scholar
Iakoucheva LM, Muotri AR, Sebat J. Getting to the cores of autism. Cell. 2019;178(6):1287–98.
Article
CAS
PubMed
PubMed Central
Google Scholar
Iossifov I, O'Roak BJ, Sanders SJ, Ronemus M, Krumm N, Levy D, et al. The contribution of de novo coding mutations to autism spectrum disorder. Nature. 2014;515(7526):216–21.
Article
CAS
PubMed
PubMed Central
Google Scholar
Werling DM, Brand H, An JY, Stone MR, Zhu L, Glessner JT, et al. An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder. Nat Genet. 2018;50(5):727–36.
Article
CAS
PubMed
PubMed Central
Google Scholar
Brandler WM, Antaki D, Gujral M, Kleiber ML, Whitney J, Maile MS, et al. Paternally inherited cis-regulatory structural variants are associated with autism. Science. 2018;360(6386):327–31.
Article
CAS
PubMed
PubMed Central
Google Scholar
Belyeu JR, Brand H, Wang H, Zhao X, Pedersen BS, Feusier J, et al. De novo structural mutation rates and gamete-of-origin biases revealed through genome sequencing of 2,396 families. Am J Hum Genet. 2021;108(4):597–607.
Article
CAS
PubMed
PubMed Central
Google Scholar
Chu C, Borges-Monroy R, Viswanadham VV, Lee S, Li H, Lee EA, et al. Comprehensive identification of transposable element insertions using multiple sequencing technologies. Nat Commun. 2021;12(1):3836.
Gardner EJ, Lam VK, Harris DN, Chuang NT, Scott EC, Pittard WS, et al. The Mobile element locator tool (MELT): population-scale mobile element discovery and biology. Genome Res. 2017;27(11):1916–29.
Article
CAS
PubMed
PubMed Central
Google Scholar
Thung DT, de Ligt J, Vissers LE, Steehouwer M, Kroon M, de Vries P, et al. Mobster: accurate detection of mobile element insertions in next generation sequencing data. Genome Biol. 2014;15(10):488.
Article
PubMed
PubMed Central
Google Scholar
Evrony GD, Lee E, Mehta BK, Benjamini Y, Johnson RM, Cai X, et al. Cell lineage analysis in human brain using endogenous retroelements. Neuron. 2015;85(1):49–59.
Article
CAS
PubMed
PubMed Central
Google Scholar
Lee E, Iskow R, Yang L, Gokcumen O, Haseley P, Luquette LJ 3rd, et al. Landscape of somatic retrotransposition in human cancers. Science. 2012;337(6097):967–71.
Article
CAS
PubMed
PubMed Central
Google Scholar
Collins RL, Brand H, Karczewski KJ, Zhao X, Alfoldi J, Francioli LC, et al. A structural variation reference for medical and population genetics. Nature. 2020;581(7809):444–51.
Article
CAS
PubMed
PubMed Central
Google Scholar
Zhou W, Emery SB, Flasch DA, Wang Y, Kwan KY, Kidd JM, et al. Identification and characterization of occult human-specific LINE-1 insertions using long-read sequencing technology. Nucleic Acids Res. 2020;48(3):1146–63.
Article
CAS
PubMed
Google Scholar
Ewing AD, Smits N, Sanchez-Luque FJ, Faivre J, Brennan PM, Richardson SR, et al. Nanopore sequencing enables comprehensive transposable element epigenomic profiling. Mol Cell. 2020;80(5):915–28 e5.
Article
CAS
PubMed
Google Scholar
Abrahams BS, Arking DE, Campbell DB, Mefford HC, Morrow EM, Weiss LA, et al. SFARI gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs). Mol Autism. 2013;4(1):36.
Article
PubMed
PubMed Central
Google Scholar
Guo H, Li Y, Shen L, Wang T, Jia X, Liu L, et al. Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission. Sci Adv. 2019;5(9):eaax2166.
Article
CAS
PubMed
PubMed Central
Google Scholar
Baker K, Gordon SL, Melland H, Bumbak F, Scott DJ, Jiang TJ, et al. SYT1-associated neurodevelopmental disorder: a case series. Brain. 2018;141(9):2576–91.
Article
PubMed
PubMed Central
Google Scholar
Yin J, Chen W, Chao ES, Soriano S, Wang L, Wang W, et al. Otud7a knockout mice recapitulate many neurological features of 15q13.3 microdeletion syndrome. Am J Hum Genet. 2018;102(2):296–308.
Article
CAS
PubMed
PubMed Central
Google Scholar
Uddin M, Unda BK, Kwan V, Holzapfel NT, White SH, Chalil L, et al. OTUD7A regulates neurodevelopmental phenotypes in the 15q13.3 microdeletion syndrome. Am J Hum Genet. 2018;102(2):278–95.
Article
CAS
PubMed
PubMed Central
Google Scholar
Endris V, Wogatzky B, Leimer U, Bartsch D, Zatyka M, Latif F, et al. The novel rho-GTPase activating gene MEGAP/ srGAP3 has a putative role in severe mental retardation. Proc Natl Acad Sci U S A. 2002;99(18):11754–9.
Article
CAS
PubMed
PubMed Central
Google Scholar
Nava C, Dalle C, Rastetter A, Striano P, de Kovel CG, Nabbout R, et al. De novo mutations in HCN1 cause early infantile epileptic encephalopathy. Nat Genet. 2014;46(6):640–5.
Article
CAS
PubMed
Google Scholar
Tsetsos F, Yu D, Sul JH, Huang AY, Illmann C, Osiecki L, et al. Synaptic processes and immune-related pathways implicated in Tourette syndrome. Transl Psychiatry. 2021;11(1):56.
Corral-Juan M, Serrano-Munuera C, Rabano A, Cota-Gonzalez D, Segarra-Roca A, Ispierto L, et al. Clinical, genetic and neuropathological characterization of spinocerebellar ataxia type 37. Brain. 2018;141(7):1981–97.
Article
PubMed
Google Scholar
Nawa Y, Kimura H, Mori D, Kato H, Toyama M, Furuta S, et al. Rare single-nucleotide DAB1 variants and their contribution to schizophrenia and autism spectrum disorder susceptibility. Hum Genome Var. 2020;7(1):37.
Article
CAS
PubMed
PubMed Central
Google Scholar
Carter MT, Nikkel SM, Fernandez BA, Marshall CR, Noor A, Lionel AC, et al. Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder. Clin Genet. 2011;80(5):435–43.
Article
CAS
PubMed
Google Scholar
Willemsen MH, Valles A, Kirkels LA, Mastebroek M, Olde Loohuis N, Kos A, et al. Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability. J Med Genet. 2011;48(12):810–8.
Article
CAS
PubMed
Google Scholar
Marshall CR, Noor A, Vincent JB, Lionel AC, Feuk L, Skaug J, et al. Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet. 2008;82(2):477–88.
Article
CAS
PubMed
PubMed Central
Google Scholar
Santos-Cortez RLP, Khan V, Khan FS, Mughal ZU, Chakchouk I, Lee K, et al. Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability. Hum Genet. 2018;137(9):735–52.
Article
CAS
PubMed
PubMed Central
Google Scholar
Blom W, de Muinck Keizer SM, Scholte HR. Acetyl-CoA carboxylase deficiency: an inborn error of de novo fatty acid synthesis. N Engl J Med. 1981;305(8):465–6.
Article
CAS
PubMed
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
Wildschutte JH, Baron A, Diroff NM, Kidd JM. Discovery and characterization of Alu repeat sequences via precise local read assembly. Nucleic Acids Res. 2015;43(21):10292–307.
CAS
PubMed
PubMed Central
Google Scholar
Gilbert N, Lutz S, Morrish TA, Moran JV. Multiple fates of L1 retrotransposition intermediates in cultured human cells. Mol Cell Biol. 2005;25(17):7780–95.
Article
CAS
PubMed
PubMed Central
Google Scholar
Croen LA, Najjar DV, Fireman B, Grether JK. Maternal and paternal age and risk of autism spectrum disorders. Arch Pediatr Adolesc Med. 2007;161(4):334–40.
Article
PubMed
Google Scholar
Roadmap Epigenomics C, Kundaje A, Meuleman W, Ernst J, Bilenky M, Yen A, et al. Integrative analysis of 111 reference human epigenomes. Nature. 2015;518(7539):317–30.
Article
Google Scholar
Gao Z, Godbout R. Reelin-Disabled-1 signaling in neuronal migration: splicing takes the stage. Cell Mol Life Sci. 2013;70(13):2319–29.
Article
CAS
PubMed
Google Scholar
Genau HM, Huber J, Baschieri F, Akutsu M, Dotsch V, Farhan H, et al. CUL3-KBTBD6/KBTBD7 ubiquitin ligase cooperates with GABARAP proteins to spatially restrict TIAM1-RAC1 signaling. Mol Cell. 2015;57(6):995–1010.
Article
CAS
PubMed
Google Scholar
Zook JM, Catoe D, McDaniel J, Vang L, Spies N, Sidow A, et al. Extensive sequencing of seven human genomes to characterize benchmark reference materials. Sci Data. 2016;3:160025.
Article
CAS
PubMed
PubMed Central
Google Scholar
Chen EY, Tan CM, Kou Y, Duan Q, Wang Z, Meirelles GV, et al. Enrichr: interactive and collaborative HTML5 gene list enrichment analysis tool. BMC Bioinformatics. 2013;14:128.
Article
PubMed
PubMed Central
Google Scholar
Raudvere U, Kolberg L, Kuzmin I, Arak T, Adler P, Peterson H, et al. G:profiler: a web server for functional enrichment analysis and conversions of gene lists (2019 update). Nucleic Acids Res. 2019;47(W1):W191–W8.
Article
CAS
PubMed
PubMed Central
Google Scholar