Neale BM, Kou Y, Liu L, Ma’Ayan A, Samocha KE, Sabo A, et al. Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature. 2012;485(7397):242–5.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Sanders SJ, Murtha MT, Gupta AR, Murdoch JD, Raubeson MJ, Willsey AJ, et al. De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature. 2012;485(7397):237–41.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Persico AM, Van de Water J, Pardo CA. Autism: Where Genetics Meets the Immune System. Autism Res Treat. 2012;2012:486359.

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 

Toma C. Genetic variation across phenotypic severity of autism. Trends Genet. 2020;36(4):228–31.

Article  CAS  PubMed  Google Scholar 

Murphy D, Spooren W. EU-AIMS: a boost to autism research. Nat Rev Drug Discov. 2012;11(11):815–6.

Article  CAS  PubMed  Google Scholar 

Christensen ZP, Freedman EG, Foxe JJ. Autism is Associated with in vivo Changes in Gray Matter Neurite Architecture. bioRxiv. 2023:2023.03. 25.534208.

Loth E, Spooren W, Murphy DG. New treatment targets for autism spectrum disorders: EU-AIMS. Lancet Psychiatry. 2014;1(6):413–5.

Article  PubMed  Google Scholar 

Gui Y, Zhou X, Wang Z, Zhang Y, Wang Z, Zhou G, et al. Sex-specific genetic association between psychiatric disorders and cognition, behavior and brain imaging in children and adults. Transl Psychiatry. 2022;12(1):347.

Article  PubMed  PubMed Central  Google Scholar 

Kalsner L, Twachtman-Bassett J, Derynioski L, Chamberlain S. Yield of genetic testing including targeted gene panel in a clinical population of children with autism spectrum disorder (P1. 303). AAN Enterprises; 2018.

Tammimies K, Marshall CR, Walker S, Kaur G, Thiruvahindrapuram B, Lionel AC, et al. Molecular diagnostic yield of chromosomal microarray analysis and whole-exome sequencing in children with autism spectrum disorder. JAMA. 2015;314(9):895–903.

Article  CAS  PubMed  Google Scholar 

Erdmann J, Großhennig A, Braund PS, König IR, Hengstenberg C, Hall AS, et al. New susceptibility locus for coronary artery disease on chromosome 3q22. 3. Nat Genet. 2009;41(3):280–2.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Sing CF, Stengârd JH, Kardia SL. Genes, environment, and cardiovascular disease. Arterioscler Thromb Vasc Biol. 2003;23(7):1190–6.

Article  CAS  PubMed  Google Scholar 

Comuzzie AG, Hixson JE, Almasy L, Mitchell BD, Mahaney MC, Dyer TD, et al. A major quantitative trait locus determining serum leptin levels and fat mass is located on human chromosome 2. Nat Genet. 1997;15(3):273–6.

Article  CAS  PubMed  Google Scholar 

Consortium TG. Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Nat Genet. 2009;41(1):25–34.

Article  Google Scholar 

Hsueh W-C, Mitchell BD, Aburomia R, Pollin T, Sakul H, Gelder Ehm M, et al. Diabetes in the Old Order Amish: characterization and heritability analysis of the Amish Family Diabetes Study. Diabetes Care. 2000;23(5):595–601.

Article  CAS  PubMed  Google Scholar 

Demissie S, Dupuis J, Cupples L, Beck T, Kiel D, Karasik D. Proximal hip geometry is linked to several chromosomal regions: genome-wide linkage results from the Framingham Osteoporosis Study. Bone. 2007;40(3):743–50.

Article  CAS  PubMed  Google Scholar 

Mitchell BD, Kammerer CM, Schneider JL, Perez R, Bauer RL. Genetic and environmental determinants of bone mineral density in Mexican Americans: results from the San Antonio Family Osteoporosis Study. Bone. 2003;33(5):839–46.

Article  PubMed  Google Scholar 

Sacco R, Gabriele S, Persico AM. Head circumference and brain size in autism spectrum disorder: a systematic review and meta-analysis. Psychiatry Res Neuroimaging. 2015;234(2):239–51.

Article  Google Scholar 

Tiede GM, Walton KM. Social endophenotypes in autism spectrum disorder: a scoping review. Dev Psychopathol. 2021;33(4):1381–409.

Article  PubMed  Google Scholar 

Tamminga CA, Clementz BA, Pearlson G, Keshavan M, Gershon ES, Ivleva EI, et al. Biotyping in psychosis: using multiple computational approaches with one data set. Neuropsychopharmacology. 2021;46(1):143–55.

Article  PubMed  Google Scholar 

Sanislow CA, Ferrante M, Pacheco J, Rudorfer MV, Morris SE. Advancing translational research using NIMH research domain criteria and computational methods. Neuron. 2019;101(5):779–82.

Article  CAS  PubMed  Google Scholar 

Hyman SE. Psychiatric disorders: grounded in human biology but not natural kinds. Perspect Biol Med. 2021;64(1):6–28.

Article  PubMed  Google Scholar 

John B, Lewis KR. Chromosome variability and geographic distribution in insects: chromosome rather than gene variations provide the key to differences among populations. Science. 1966;152(3723):711–21.

Article  CAS  PubMed  Google Scholar 

Gottesman II, Shields J. Schizophrenia and genetics. A twin study vantage point. New York: Acad Press; 1972.

Google Scholar 

Gottesman II, Gould TD. The endophenotype concept in psychiatry: etymology and strategic intentions. Am J Psychiatry. 2003;160(4):636–45.

Article  PubMed  Google Scholar 

Glahn DC, Curran JE, Winkler AM, Carless MA, Kent JW Jr, Charlesworth JC, et al. High dimensional endophenotype ranking in the search for major depression risk genes. Biol Psychiatry. 2012;71(1):6–14.

Article  PubMed  Google Scholar 

Gould TD, Gottesman II. Psychiatric endophenotypes and the development of valid animal models. Genes Brain Behav. 2006;5(2):113–9.

Article  CAS  PubMed  Google Scholar 

Gershon ES, Goldin L. Clinical methods in psychiatric genetics: I. Robustness of genetic marker investigative strategies. Acta Psychiatr Scand. 1986;74(2):113–8.

Article  CAS  PubMed  Google Scholar 

Elison JT. Considering transient instantiators. Dev Psychopathol. 2020;32(4):1173–4.

Article  PubMed  Google Scholar 

Bryson SE, Zwaigenbaum L. Autism observation scale for infants. Comprehensive guide to autism. New York: Springer; 2014. p. 299–310.

Book  Google Scholar 

Mous SE, Jiang A, Agrawal A, Constantino JN. Attention and motor deficits index non-specific background liabilities that predict autism recurrence in siblings. J Neurodev Disord. 2017;9:1–11.

Article  Google Scholar 

Association AP. Diagnostic and statistical manual of mental disorders (DSM-5 (R)). Arlington: American Psychiatric Association Publishing; 2013.

Book  Google Scholar 

Carroll LS, Owen MJ. Genetic overlap between autism, schizophrenia and bipolar disorder. Genome Med. 2009;1(10):1–7.

Article  Google Scholar 

Ma S-L, Chen LH, Lee C-C, Lai KY, Hung S-F, Tang C-P, et al. Genetic overlap between attention deficit/hyperactivity disorder and autism spectrum disorder in SHANK2 gene. Front Neurosci. 2021;15:649588.

Article  PubMed  PubMed Central  Google Scholar 

González-Peñas J, Costas JC, García-Alcón A, Penzol MJ, Rodríguez J, Rodríguez-Fontenla C, et al. Psychiatric comorbidities in Asperger syndrome are related with polygenic overlap and differ from other Autism subtypes. Transl Psychiatry. 2020;10(1):258.

Article  PubMed  PubMed Central  Google Scholar 

Constantino JN, Todd RD. Autistic traits in the general population: a twin study. Arch Gen Psychiatry. 2003;60(5):524–30.

Article  PubMed  Google Scholar 

Lundström S, Chang Z, Råstam M, Gillberg C, Larsson H, Anckarsäter H, et al. Autism spectrum disorders and autisticlike traits: similar etiology in the extreme end and the normal variation. Arch Gen Psychiatry. 2012;69(1):46–52.

Article  PubMed  Google Scholar 

Astle DE, Holmes J, Kievit R, Gathercole SE. Annual research review: the transdiagnostic revolution in neurodevelopmental disorders. J Child Psychol Psychiatry. 2022;63(4):397–417.

Article  PubMed  Google Scholar 

Ahmed AA, Vander Wyk BC. Neural processing of intentional biological motion in unaffected siblings of children with autism spectrum disorder: an fMRI study. Brain Cogn. 2013;83(3):297–306.

Article  PubMed  Google Scholar 

de Klerk CC, Gliga T, Charman T, Johnson MH, Team B. Face engagement during infancy predicts later face recognition ability in younger siblings of children with autism. Dev Sci. 2014;17(4):596–611.

Article  PubMed  Google Scholar 

Esposito G, del Carmen RM, Venuti P, Haltigan JD, Messinger DS. Brief Report: Atypical expression of distress during the separation phase of the strange situation procedure in infant siblings at high risk for ASD. J Autism Dev Disord. 2014;44:975–80.

Article  PubMed  PubMed Central  Google Scholar