Association AP, American Psychiatric Association (2013): Diagnosti c and Statistical Manual of Mental Disorders, Arlington

Asken MJ, Grossman D, Christensen LW, American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders. Arlington, VA: American Psychiatric Pub-lishing, 2013, Archibald, Herbert C, Read D (2007) Tuddenham.Persistent Stress Reac-tion after Combat: A 20-Year Follow-Up. Archives of General Psy. Therapy. 45(10):2317-25

Tick B, Bolton P, Happé F, Rutter M, Rijsdijk F (2016) Heritability of autism spectrum disorders: a meta-analysis of twin studies. J Child Psychol Psychiatry 57(5):585–595

Article  PubMed  Google Scholar 

Yuen C, Merico RK, Bookman D, L Howe M, Thiruvahindrapuram J, Patel B (2017) Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder. Nat Neurosci 20(4):602–611

Article  CAS  PubMed Central  Google Scholar 

Ramaswami G, Geschwind DH (2018) Genetics of autism spectrum disorder. Handb Clin Neurol 147:321–329

Article  PubMed  Google Scholar 

Trost B, Walker S, Haider SA, Sung WW, Pereira S, Phillips CL et al (2019) Impact of DNA source on genetic variant detection from human whole-genome sequencing data. J Med Genet 56(12):809–817

Article  CAS  PubMed  Google Scholar 

Fernandez BA, Scherer SW (2022) Syndromic autism spectrum disorders: moving from a clinically defined to a molecularly defined approach. Dialog Clin Neurosci

Li H, Durbin R (2009) Fast and accurate short read alignment with Burrows–Wheeler transform. Bioinformatics 25(14):1754–1760

Article  CAS  PubMed  PubMed Central  Google Scholar 

Li H, Handsaker B, Wysoker A, Fennell T, Ruan J, Homer N et al (2009) The sequence alignment/map format and SAMtools. Bioinformatics 25(16):2078–2079

Article  PubMed  PubMed Central  Google Scholar 

McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A et al (2010) The genome analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res 20(9):1297–1303

Article  CAS  PubMed  PubMed Central  Google Scholar 

DePristo MA, Banks E, Poplin R, Garimella KV, Maguire JR, Hartl C et al (2011) A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet 43(5):491–498

Article  CAS  PubMed  PubMed Central  Google Scholar 

Wang K, Li M, Hakonarson H (2010) ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res 38(16):e164–e

Article  PubMed  PubMed Central  Google Scholar 

McLaren W, Pritchard B, Rios D, Chen Y, Flicek P, Cunningham F (2010) Deriving the consequences of genomic variants with the Ensembl API and SNP effect predictor. Bioinformatics 26(16):2069–2070

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kircher M, Witten DM, Jain P, O’roak BJ, Cooper GM, Shendure J (2014) A general framework for estimating the relative pathogenicity of human genetic variants. Nat Genet 46(3):310–315

Article  CAS  PubMed  PubMed Central  Google Scholar 

Liu X, Wu C, Li C, Boerwinkle E (2016) dbNSFP v3. 0: a one-stop database of functional predictions and annotations for human nonsynonymous and splice‐site SNVs. Hum Mutat 37(3):235–241

Article  PubMed  PubMed Central  Google Scholar 

Oscanoa J, Sivapalan L, Gadaleta E, Dayem Ullah AZ, Lemoine NR, Chelala C (2020) SNPnexus: a web server for functional annotation of human genome sequence variation (2020 update). Nucleic Acids Res 48(W1):W185–W92

Article  CAS  PubMed  PubMed Central  Google Scholar 

Chen KM, Wong AK, Troyanskaya OG, Zhou J (2022) A sequence-based global map of regulatory activity for deciphering human genetics. Nat Genet 54(7):940–949

Article  CAS  PubMed  PubMed Central  Google Scholar 

Stenson PD, Ball EV, Mort M, Phillips AD, Shiel JA, Thomas NS et al (2003) Human gene mutation database (HGMD®): 2003 update. Hum Mutat 21(6):577–581

Article  CAS  PubMed  Google Scholar 

Robinson JT, Thorvaldsdóttir H, Wenger AM, Zehir A, Mesirov JP (2017) Variant review with the integrative genomics viewer. Cancer Res 77(21):e31–e4

Article  CAS  PubMed  PubMed Central  Google Scholar 

Karolchik D, Baertsch R, Diekhans M, Furey TS, Hinrichs A, Lu Y et al (2003) The UCSC genome browser database. Nucleic Acids Res 31(1):51–54

Article  CAS  PubMed  PubMed Central  Google Scholar 

Abyzov A, Urban AE, Snyder M, Gerstein M (2011) CNVnator: an approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing. Genome Res 21(6):974–984

Article  CAS  PubMed  PubMed Central  Google Scholar 

Rausch T, Zichner T, Schlattl A, Stutz AM, Benes V, Korbel JO (2012) DELLY: structural variant discovery by integrated paired-end and split-read analysis. Bioinformatics 28(18):i333–i9

Article  CAS  PubMed  PubMed Central  Google Scholar 

Layer RM, Chiang C, Quinlan AR, Hall IM (2014) LUMPY: a probabilistic framework for structural variant discovery. Genome Biol 15(6):R84

Article  PubMed  PubMed Central  Google Scholar 

Mohiyuddin M, Mu JC, Li J, Bani Asadi N, Gerstein MB, Abyzov A et al (2015) MetaSV: an accurate and integrative structural-variant caller for next generation sequencing. Bioinformatics 31(16):2741–2744

Article  CAS  PubMed  PubMed Central  Google Scholar 

Jia L, Liu N, Huang F, Zhou Z, He X, Li H et al (2020) Intansv: an R package for integrative analysis of structural variations. PeerJ 8:e8867

Article  PubMed  PubMed Central  Google Scholar 

Mitchell AL, Attwood TK, Babbitt PC, Blum M, Bork P, Bridge A et al (2019) InterPro in 2019: improving coverage, classification and access to protein sequence annotations. Nucleic Acids Res 47(D1):D351–D60

Article  CAS  PubMed  Google Scholar 

Stelzer G, Rosen N, Plaschkes I, Zimmerman S, Twik M, Fishilevich S et al (2016) The GeneCards suite: from Gene Data Mining to Disease Genome sequence analyses. Curr Protoc Bioinf 54(1 30):1–13

Google Scholar 

Himpel S, PANZER P, EIRMBTER K, CZAJKOWSKA H, SAYED M, PACKMAN LC et al (2001) Identification of the autophosphorylation sites and characterization of their effects in the protein kinase DYRK1A. Biochem J 359(3):497–505

Article  CAS  PubMed  PubMed Central  Google Scholar 

Bronicki LM, Redin C, Drunat S, Piton A, Lyons M, Passemard S et al (2015) Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A. Eur J Hum Genet 23(11):1482–1487

Article  CAS  PubMed  PubMed Central  Google Scholar 

O’Roak BJ, Vives L, Fu W, Egertson JD, Stanaway IB, Phelps IG et al (2012) Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science 338(6114):1619–1622

Article  PubMed  PubMed Central  Google Scholar 

Møller RS, Kübart S, Hoeltzenbein M, Heye B, Vogel I, Hansen CP et al (2008) Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly. Am J Hum Genet 82(5):1165–1170

Article  PubMed  PubMed Central  Google Scholar 

Courcet J-B, Faivre L, Malzac P, Masurel-Paulet A, Lopez E, Callier P et al (2012) The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy. J Med Genet 49(12):731–736