Genetics of Autism Spectrum Disorders
Abstract
Recent research has shown that the traditional concept that each diagnosis is separate from all others is mistaken. The evidence shows the high level of overlap. Molecular genetic studies have shown that many genetic influences are pleiotropic and probabilistic, as well as having limited diagnostic specificity. Both common polymorphic variations and rare variants are involved. Single gene disorders are discussed with a focus on their possible reversibility. The goal of identifying causal biological pathways is sound, but the search has had very limited success so far. Although it is clear that genetic influences are very important in the liability to autism, the direct clinical implications are quite limited.
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Kanner's suggestion that autism was not associated with other medical conditions proved incorrect.
“Kanner’s suggestion that autism was not associated with other medical conditions proved incorrect (Rutter and Thapar 2014; Yuen et al. 2019).”
From The Diagnosis of Autism: From Kanner to DSM-III to DSM-5 and Beyond (2021) · cites this paper as Rutter and Thapar 2014
Cites
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls
The Wellcome Trust Case Control Consortium, Management Committee, Burton, P. R., Clayton, D. G., Cardon, L. R., Craddock, N., Deloukas, P., Duncanson, A., Kwiatkowski, D. P., McCarthy, M. I., et al. (2007) · Nature · doi:10.1038/nature05911 · Cited by 9,442 · see citing works
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
Amir, R. E., Van den Veyver, I. B., Wan, M., Tran, C. Q., Francke, U., & Zoghbi, H. Y. (1999) · Nature Genetics · doi:10.1038/13810 · Cited by 4,990 · see citing works
Verkerk, A. J. M. H., Pieretti, M., Sutcliffe, J. S., Fu, Y.-H., Kuhl, D. P. A., Pizzuti, A., Reiner, O., Richards, S., Victoria, M. F., Zhang, F., et al. (1991) · Cell · doi:10.1016/0092-8674(91)90397-h · Cited by 3,481 · see citing works
Simonoff, E., Pickles, A., Charman, T., Chandler, S., Loucas, T., & Baird, G. (2008) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1097/chi.0b013e318179964f · Cited by 3,399 · see citing works
Strong association of de novo copy number mutations with autism
Sebat, J., Lakshmi, B., Malhotra, D., Troge, J., Lese-Martin, C., Walsh, T., Yamrom, B., Yoon, S., Krasnitz, A., Kendall, J., et al. (2007) · Science · doi:10.1126/science.1138659 · Cited by 2,795 · see citing works
(1989) · UCL Discovery (University College London) · Cited by 2,724 · see citing works
Autism as a strongly genetic disorder: evidence from a British twin study
Bailey, A., Le Couteur, A., Gottesman, I., Bolton, P., Simonoff, E., Yuzda, E., & Rutter, M. (1995) · Psychological Medicine · doi:10.1017/s0033291700028099 · Cited by 2,461 · see citing works
Self-citationSporadic autism exomes reveal a highly interconnected protein network of de novo mutations
O’Roak, B. J., Vives, L., Girirajan, S., Karakoc, E., Krumm, N., Coe, B. P., Levy, R., Ko, A., Lee, C., Smith, J. D., et al. (2012) · Nature · doi:10.1038/nature10989 · Cited by 2,165 · see citing works
Rate of de novo mutations and the importance of father’s age to disease risk
Kong, A., Frigge, M. L., Masson, G., Besenbacher, S., Sulem, P., Magnusson, G., Gudjonsson, S. A., Sigurdsson, A., Jonasdottir, A., Jonasdottir, A., et al. (2012) · Nature · doi:10.1038/nature11396 · Cited by 2,134 · see citing works
Fu, Y.-H., Kuhl, D. P. A., Pizzuti, A., Pieretti, M., Sutcliffe, J. S., Richards, S., Verkert, A. J. M. H., Holden, J. J. A., Fenwick, R. G., Warren, S. T., et al. (1991) · Cell · doi:10.1016/0092-8674(91)90283-5 · Cited by 2,080 · see citing works
Genetic Heritability and Shared Environmental Factors Among Twin Pairs With Autism
Hallmayer, J. (2011) · Archives of General Psychiatry · doi:10.1001/archgenpsychiatry.2011.76 · Cited by 1,970 · see citing works
Advances in autism genetics: on the threshold of a new neurobiology
Abrahams, B. S., & Geschwind, D. H. (2008) · Nature Reviews Genetics · doi:10.1038/nrg2346 · Cited by 1,866 · see citing works
Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism
Study, P. A. R. I. S., Jamain, S., Quach, H., Betancur, C., Råstam, M., Colineaux, C., Gillberg, I. C., Soderstrom, H., Giros, B., Leboyer, M., et al. (2003) · Nature Genetics · doi:10.1038/ng1136 · Cited by 1,851 · see citing works
Durand, C. M., Betancur, C., Boeckers, T. M., Bockmann, J., Chaste, P., Fauchereau, F., Nygren, G., Rastam, M., Gillberg, I. C., Anckarsäter, H., et al. (2007) · Nature Genetics · doi:10.1038/ng1933 · Cited by 1,602 · see citing works
A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome
Guy, J., Hendrich, B., Holmes, M., Martin, J. E., & Bird, A. (2001) · Nature Genetics · doi:10.1038/85899 · Cited by 1,558 · see citing works
Hagberg, B. A., Aicardi, J. F., Dias, K., & Ramos, O. (1983) · Annals of Neurology · doi:10.1002/ana.410140412 · Cited by 1,515 · see citing works
Rare chromosomal deletions and duplications increase risk of schizophrenia
The International Schizophrenia Consortium (2008) · Nature · doi:10.1038/nature07239 · Cited by 1,475 · see citing works
De Novo Gene Disruptions in Children on the Autistic Spectrum
Iossifov, I., Ronemus, M., Levy, D., Wang, Z., Hakker, I., Rosenbaum, J., Yamrom, B., Lee, Y.-H., Narzisi, G., Leotta, A., et al. (2012) · Neuron · doi:10.1016/j.neuron.2012.04.009 · Cited by 1,446 · see citing works
INFANTILE AUTISM: A GENETIC STUDY OF 21 TWIN PAIRS
Folstein, S., & Rutter, M. (1977) · Journal of Child Psychology and Psychiatry · doi:10.1111/j.1469-7610.1977.tb00443.x · Cited by 1,361 · see citing works
Self-citationAutistic Traits in the General Population: A Twin Study
Constantino, J. N., & Todd, R. D. (2003) · Archives of General Psychiatry · doi:10.1001/archpsyc.60.5.524 · Cited by 1,317 · see citing works
Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice
Chen, R. Z., Akbarian, S., Tudor, M., & Jaenisch, R. (2001) · Nature Genetics · doi:10.1038/85906 · Cited by 1,275 · see citing works
Reversal of Neurological Defects in a Mouse Model of Rett Syndrome
Guy, J., Gan, J., Selfridge, J., Cobb, S., & Bird, A. (2007) · Science · doi:10.1126/science.1138389 · Cited by 1,230 · see citing works
Genetic architectures of psychiatric disorders: the emerging picture and its implications
Sullivan, P. F., Daly, M. J., & O'Donovan, M. (2012) · Nature Reviews Genetics · doi:10.1038/nrg3240 · Cited by 1,177 · see citing works
Curatolo, P., Bombardieri, R., & Jóźwiak, S. (2008) · The Lancet · doi:10.1016/s0140-6736(08)61279-9 · Cited by 1,106 · see citing works
Common genetic variants on 5p14.1 associate with autism spectrum disorders
Wang, K., Zhang, H., Ma, D., Bucan, M., Glessner, J. T., Abrahams, B. S., Salyakina, D., Imielinski, M., Bradfield, J. P., Sleiman, P. M. A., et al. (2009) · Nature · doi:10.1038/nature07999 · Cited by 989 · see citing works
Theory of mind in schizophrenia: Meta-analysis
Sprong, M., Schothorst, P., Vos, E., Hox, J., & Van Engeland, H. (2007) · British Journal of Psychiatry · doi:10.1192/bjp.bp.107.035899 · Cited by 832 · see citing works
Zoghbi, H. Y., & Bear, M. F. (2012) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a009886 · Cited by 797 · see citing works
The genetics of autism spectrum disorders and related neuropsychiatric disorders in childhood
Lichtenstein, P., Carlström, E., Råstam, M., Gillberg, C., & Anckarsäter, H. (2010) · American Journal of Psychiatry · doi:10.1176/appi.ajp.2010.10020223 · Cited by 738 · see citing works
(1966) · PubMed · Cited by 708 · see citing works
Genetics of autism spectrum disorders
Geschwind, D. H. (2011) · Trends in Cognitive Sciences · doi:10.1016/j.tics.2011.07.003 · Cited by 696 · see citing works
Autistic-like social behaviour in Shank2-mutant mice improved by restoring NMDA receptor function
Won, H., Lee, H.-R., Gee, H. Y., Mah, W., Kim, J.-I., Lee, J., Ha, S., Chung, C., Jung, E. S., Cho, Y. S., et al. (2012) · Nature · doi:10.1038/nature11208 · Cited by 695 · see citing works
Contribution of SHANK3 Mutations to Autism Spectrum Disorder
Moessner, R., Marshall, C. R., Sutcliffe, J. S., Skaug, J., Pinto, D., Vincent, J., Zwaigenbaum, L., Fernandez, B., Roberts, W., Szatmari, P., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/522590 · Cited by 681 · see citing works
A genome-wide linkage and association scan reveals novel loci for autism
The Gene Discovery Project of Johns Hopkins & the Autism Consortium, Weiss, L. A., & Arking, D. E. (2009) · Nature · doi:10.1038/nature08490 · Cited by 619 · see citing works
Autism spectrum disorders and autistic traits: A decade of new twin studies
Ronald, A., & Hoekstra, R. A. (2011) · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics · doi:10.1002/ajmg.b.31159 · Cited by 616 · see citing works
Leekam, S. R., Prior, M. R., & Uljarevic, M. (2011) · Psychological Bulletin · doi:10.1037/a0023341 · Cited by 612 · see citing works
Lubs, H. A. (1969) · PubMed · Cited by 610 · see citing works
Diagnostic genome profiling in mental retardation
de Vries, B. B. A., Pfundt, R., Leisink, M., Koolen, D. A., Vissers, L. E. L. M., Janssen, I. M., Reijmersdal, S. V., Nillesen, W. M., Huys, E. H. L. P. G., Leeuw, N. D., et al. (2005) · The American Journal of Human Genetics · doi:10.1086/491719 · Cited by 605 · see citing works
A genome-wide scan for common alleles affecting risk for autism
Anney, R., Klei, L., Pinto, D., Regan, R., Conroy, J., Magalhaes, T. R., Correia, C., Abrahams, B. S., Sykes, N., Pagnamenta, A. T., et al. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq307 · Cited by 593 · see citing works
Partial reversal of Rett Syndrome-like symptoms in MeCP2 mutant mice
Tropea, D., Giacometti, E., Wilson, N. R., Beard, C., McCurry, C., Fu, D. D., Flannery, R., Jaenisch, R., & Sur, M. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0812394106 · Cited by 593 · see citing works
Talkowski, M. E., Rosenfeld, J. A., Blumenthal, I., Pillalamarri, V., Chiang, C., Heilbut, A., Ernst, C., Hanscom, C., Rossin, E., Lindgren, A. M., et al. (2012) · Cell · doi:10.1016/j.cell.2012.03.028 · Cited by 577 · see citing works
Williams, N. M., Zaharieva, I., Martin, A., Langley, K., Mantripragada, K., Fossdal, R., Stefansson, H., Stefansson, K., Magnusson, P., Gudmundsson, O. O., et al. (2010) · The Lancet · doi:10.1016/s0140-6736(10)61109-9 · Cited by 572 · see citing works
Self-citationShared heritability of attention-deficit/hyperactivity disorder and autism spectrum disorder
Rommelse, N. N. J., Franke, B., Geurts, H. M., Hartman, C. A., & Buitelaar, J. K. (2010) · European Child & Adolescent Psychiatry · doi:10.1007/s00787-010-0092-x · Cited by 564 · see citing works
Intergenerational transmission of subthreshold autistic traits in the general population
Constantino, J. N., & Todd, R. D. (2005) · Biological Psychiatry · doi:10.1016/j.biopsych.2004.12.014 · Cited by 519 · see citing works
Genetic Heterogeneity Between the Three Components of the Autism Spectrum: A Twin Study
RONALD, A., HAPPÉ, F., BOLTON, P., BUTCHER, L. M., PRICE, T. S., WHEELWRIGHT, S., BARON-COHEN, S., & PLOMIN, R. (2006) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1097/01.chi.0000215325.13058.9d · Cited by 508 · see citing works
Specific mutations in <i>Methyl-CpG-Binding Protein 2</i> confer different severity in Rett syndrome
Neul, J. L., Fang, P., Barrish, J., Lane, J., Caeg, E. B., Smith, E. O., Zoghbi, H., Percy, A., & Glaze, D. G. (2008) · Neurology · doi:10.1212/01.wnl.0000291011.54508.aa · Cited by 498 · see citing works
Happé, F., & Ronald, A. (2008) · Neuropsychology Review · doi:10.1007/s11065-008-9076-8 · Cited by 498 · see citing works
Characteristics and Concordance of Autism Spectrum Disorders Among 277 Twin Pairs
Rosenberg, R. E., Law, J. K., Yenokyan, G., McGready, J., Kaufmann, W. E., & Law, P. A. (2009) · Archives of Pediatrics & Adolescent Medicine · doi:10.1001/archpediatrics.2009.98 · Cited by 495 · see citing works
A PEDIGREE OF MENTAL DEFECT SHOWING SEX-LINKAGE
Martin, J. P., & Bell, J. (1943) · Journal of Neurology, Neurosurgery & Psychiatry · doi:10.1136/jnnp.6.3-4.154 · Cited by 481 · see citing works
Ronald, A., Simonoff, E., Kuntsi, J., Asherson, P., & Plomin, R. (2008) · Journal of Child Psychology and Psychiatry · doi:10.1111/j.1469-7610.2007.01857.x · Cited by 466 · see citing works
Happe, F. G. E., & Frith, U. (1996) · Brain · doi:10.1093/brain/119.4.1377 · Cited by 465 · see citing works
A Broader Phenotype of Autism: The Clinical Spectrum in Twins
Couteur, A. S. L., Bailey, A. J., Goode, S., Pickles, A. R., Gottesman, I. I., Robertson, S., & Rutter, M. L. (1996) · Journal of Child Psychology and Psychiatry · doi:10.1111/j.1469-7610.1996.tb01475.x · Cited by 442 · see citing works
Self-citationGuilmatre, A., Dubourg, C., Mosca, A.-L., Legallic, S., Goldenberg, A., Drouin-Garraud, V., Layet, V., Rosier, A., Briault, S., Bonnet-Brilhault, F., et al. (2009) · Archives of General Psychiatry · doi:10.1001/archgenpsychiatry.2009.80 · Cited by 429 · see citing works
Common genetic variants, acting additively, are a major source of risk for autism
Klei, L., Sanders, S. J., Murtha, M. T., Hus, V., Lowe, J. K., Willsey, A. J., Moreno-De-Luca, D., Yu, T. W., Fombonne, E., Geschwind, D., et al. (2012) · Molecular Autism · doi:10.1186/2040-2392-3-9 · Cited by 418 · see citing works
Advanced Parental Age and the Risk of Autism Spectrum Disorder
Durkin, M. S., Maenner, M. J., Newschaffer, C. J., Lee, L.-C., Cunniff, C. M., Daniels, J. L., Kirby, R. S., Leavitt, L. A., Miller, L. A., Zahorodny, W. M., et al. (2008) · American Journal of Epidemiology · doi:10.1093/aje/kwn250 · Cited by 417 · see citing works
Genetic influences and infantile autism
FOLSTEIN, S., & RUTTER, M. (1977) · Nature · doi:10.1038/265726a0 · Cited by 400 · see citing works
Self-citationIndividual common variants exert weak effects on the risk for autism spectrum disorders
Anney, R., Klei, L., Pinto, D., Almeida, J., Bacchelli, E., Baird, G., Bolshakova, N., Bölte, S., Bolton, P. F., Bourgeron, T., et al. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds301 · Cited by 375 · see citing works
Self-citationPower, R. A., Kyaga, S., Uher, R., MacCabe, J. H., Långström, N., Landen, M., McGuffin, P., Lewis, C. M., Lichtenstein, P., & Svensson, A. C. (2013) · JAMA Psychiatry · doi:10.1001/jamapsychiatry.2013.268 · Cited by 336 · see citing works
Skuse, D. H., Mandy, W. P. L., & Scourfield, J. (2005) · British Journal of Psychiatry · doi:10.1192/bjp.187.6.568 · Cited by 322 · see citing works
The conundrums of understanding genetic risks for autism spectrum disorders
State, M. W., & Levitt, P. (2011) · Nature Neuroscience · doi:10.1038/nn.2924 · Cited by 306 · see citing works
Shared Synaptic Pathophysiology in Syndromic and Nonsyndromic Rodent Models of Autism
Baudouin, S. J., Gaudias, J., Gerharz, S., Hatstatt, L., Zhou, K., Punnakkal, P., Tanaka, K. F., Spooren, W., Hen, R., De Zeeuw, C. I., et al. (2012) · Science · doi:10.1126/science.1224159 · Cited by 293 · see citing works
Belichenko, P. V., Wright, E. E., Belichenko, N. P., Masliah, E., Li, H. H., Mobley, W. C., & Francke, U. (2009) · Journal of Comparative Neurology · doi:10.1002/cne.22009 · Cited by 272 · see citing works
Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2
Giacometti, E., Luikenhuis, S., Beard, C., & Jaenisch, R. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0610593104 · Cited by 271 · see citing works
Ronald, A., Happé, F., & Plomin, R. (2005) · Developmental Science · doi:10.1111/j.1467-7687.2005.00433.x · Cited by 250 · see citing works
Autism Spectrum Disorders and Epigenetics
Grafodatskaya, D., Chung, B., Szatmari, P., & Weksberg, R. (2010) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1016/j.jaac.2010.05.005 · Cited by 235 · see citing works
Identification of risk factors for autism spectrum disorders in tuberous sclerosis complex
Numis, A. L., Major, P., Montenegro, M. A., Muzykewicz, D. A., Pulsifer, M. B., & Thiele, E. A. (2011) · Neurology · doi:10.1212/wnl.0b013e3182104347 · Cited by 214 · see citing works
Genetic Structure of Reciprocal Social Behavior
Constantino, J. N., & Todd, R. D. (2000) · American Journal of Psychiatry · doi:10.1176/appi.ajp.157.12.2043 · Cited by 210 · see citing works
Genetics of autistic disorders: review and clinical implications
Freitag, C. M., Staal, W., Klauck, S. M., Duketis, E., & Waltes, R. (2009) · European Child & Adolescent Psychiatry · doi:10.1007/s00787-009-0076-x · Cited by 206 · see citing works
Reiersen, A. M., Constantino, J. N., Grimmer, M., Martin, N. G., & Todd, R. D. (2008) · Twin Research and Human Genetics · doi:10.1375/twin.11.6.579 · Cited by 163 · see citing works
Dawson, G., Estes, A., Munson, J., Schellenberg, G., Bernier, R., & Abbott, R. D. (2007) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-006-0182-2 · Cited by 153 · see citing works
Networks of Neuronal Genes Affected by Common and Rare Variants in Autism Spectrum Disorders
Ben-David, E., & Shifman, S. (2012) · PLoS Genetics · doi:10.1371/journal.pgen.1002556 · Cited by 145 · see citing works
Genetic influences on the broad spectrum of autism: Study of proband‐ascertained twins
Taniai, H., Nishiyama, T., Miyachi, T., Imaeda, M., & Sumi, S. (2008) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30740 · Cited by 110 · see citing works
Targeted Treatments for Cognitive and Neurodevelopmental Disorders in Tuberous Sclerosis Complex
de Vries, P. J. (2010) · Neurotherapeutics · doi:10.1016/j.nurt.2010.05.001 · Cited by 109 · see citing works
Do common variants play a role in risk for autism? Evidence and theoretical musings
Devlin, B., Melhem, N., & Roeder, K. (2011) · Brain Research · doi:10.1016/j.brainres.2010.11.026 · Cited by 105 · see citing works
Association of Autistic-Like and Internalizing Traits During Childhood: A Longitudinal Twin Study
Hallett, V., Ronald, A., Rijsdijk, F. V., & Happe, F. G. E. (2010) · American Journal of Psychiatry · doi:10.1176/appi.ajp.2009.09070990 · Cited by 92 · see citing works
Potential therapeutic interventions for fragile X syndrome
Levenga, J., de Vrij, F. M. S., Oostra, B. A., & Willemsen, R. (2010) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2010.08.005 · Cited by 88 · see citing works
Textbook of Autism Spectrum Disorders
Howlin, P. (2011) · Child and Adolescent Mental Health · doi:10.1111/j.1475-3588.2011.00640_8.x · Cited by 74 · see citing works
Gene expression studies in autism: Moving from the genome to the transcriptome and beyond
Voineagu, I. (2012) · Neurobiology of Disease · doi:10.1016/j.nbd.2011.07.017 · Cited by 72 · see citing works
Ronald, A., Happé, F., & Plomin, R. (2008) · European Child & Adolescent Psychiatry · doi:10.1007/s00787-008-0689-5 · Cited by 69 · see citing works
Theory of mind and its relevance in schizophrenia
Biedermann, F., Frajo-Apor, B., & Hofer, A. (2012) · Current Opinion in Psychiatry · doi:10.1097/yco.0b013e3283503624 · Cited by 65 · see citing works
Ronald, A., Butcher, L. M., Docherty, S. J., Davis, O. S. P., Schalkwyk, L. C., Craig, I., & Plomin, R. J. (2009) · Behavior Genetics · doi:10.1007/s10519-009-9308-6 · Cited by 56 · see citing works
Genetic and Environmental Covariation Between Autistic Traits and Behavioral Problems
Hoekstra, R. A., Bartels, M., Hudziak, J. J., Beijsterveldt, T. C. E. M. V., & Boomsma, D. I. (2007) · Twin Research and Human Genetics · doi:10.1375/twin.10.6.853 · Cited by 51 · see citing works
Changing Concepts and Findings on Autism
Rutter, M. L. (2012) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-012-1713-7 · Cited by 49 · see citing works
Self-citationImaging-Genetics in Autism Spectrum Disorder: Advances, Translational Impact, and Future Directions
Ameis, S. H., & Szatmári, P. (2012) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2012.00046 · Cited by 46 · see citing works
Hallett, V., Ronald, A., & Happe, F. G. E. (2009) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1097/chi.0b013e31819f7116 · Cited by 40 · see citing works
Genetic and Environmental Influences on Autistic-Like Behaviors in 2-Year-Old Twins
Edelson, L. R., & Saudino, K. J. (2009) · Behavior Genetics · doi:10.1007/s10519-009-9270-3 · Cited by 35 · see citing works
Kou, Y., Betancur, C., Xu, H., Buxbaum, J. D., & Ma’ayan, A. (2012) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31330 · Cited by 34 · see citing works
Qi, L., Cui, X.-X., Dong, W., Barrera, R., Nicastro, J. M., Coppa, G., Wang, P., & Wu, R.-Q. (2012) · Molecular Medicine · doi:10.2119/molmed.2011.00390 · Cited by 33 · see citing works
Genetic Variance for Autism Screening Items in an Unselected Sample of Toddler-Age Twins
Stilp, R. L. H., Gernsbacher, M. A., Schweigert, E. K., Arneson, C. L., & Goldsmith, H. H. (2010) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1016/j.jaac.2009.11.012 · Cited by 29 · see citing works
Fruits of exome sequencing for autism
Muers, M. R. (2012) · Nature Reviews Genetics · doi:10.1038/nrg3248 · Cited by 18 · see citing works
Autism Subgroups from a Medical Genetics Perspective
Miles, J. H. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195371826.003.0046 · Cited by 16 · see citing works
Environmental Risk Factors in Autism: Results from Large-Scale Epidemiologic Studies
Hertz‐Picciotto, I. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195371826.003.0054 · Cited by 13 · see citing works
Environmental Exposures That Increase the Risk of Autism Spectrum Disorders
Rodier, P. M. (2011) · Autism Spectrum Disorders · doi:10.1093/med/9780195371826.003.0055 · Cited by 11 · see citing works
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Howlin, P., Moss, P., Savage, S., Bolton, P., & Rutter, M. L. (2014) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-014-2224-5 · Cited by 52 · see citing works
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Beltrão-Braga, P. C. B., & Muotri, A. R. (2016) · Brain Research · doi:10.1016/j.brainres.2016.01.057 · Cited by 33 · see citing works
Davis, M. C., Spriggs, A. D., Rodgers, A. D., & Campbell, J. M. (2017) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-017-3437-1 · Cited by 28 · see citing works
Seeing the forest and the trees: Disentangling autism phenotypes in the age of DSM-5
Volkmar, F. R., Woodbury‐Smith, M., Macari, S. L., & Øien, R. A. (2021) · Development and Psychopathology · doi:10.1017/s0954579420002047 · Cited by 18 · see citing works
Teaching Music to Students with Autism
Hammel, A. M., & Hourigan, R. M. (2020) · doi:10.1093/oso/9780190063177.001.0001 · Cited by 15 · see citing works
What Is Autism Spectrum Disorder?
Hammel, A. M., & Hourigan, R. M. (2020) · doi:10.1093/oso/9780190063177.003.0001 · Cited by 14 · see citing works
Understanding the Social Nature of Autism: From Clinical Manifestations to Brain Mechanisms
Volkmar, F. R., & van der Wyk, B. (2017) · Autism and child psychopathology series · doi:10.1007/978-3-319-62995-7_2 · Cited by 12 · see citing works
Whither Asperger’s Post DSM-5? An Opinion Piece
Volkmar, F. R., & Woodbury‐Smith, M. (2024) · Review Journal of Autism and Developmental Disorders · doi:10.1007/s40489-023-00425-y · Cited by 3 · see citing works
Socratic Questioning Enabled Analysis of Problem Behaviours
Venkatesan, S. (2020) · Journal of Psychology · doi:10.31901/24566292.2020/11.1-2.198 · Cited by 3 · see citing works
(2023) · International Journal of Psychiatry · doi:10.33140/ijp.08.04.01 · Cited by 1 · see citing works
Core dimensions of autism spectrum disorders
Volkmar, F. R., & Jackson, S. L. J. (2020) · doi:10.1093/med/9780198713005.003.0025
An Introduction to Autism and the Autism Spectrum
Volkmar, F. R., Jackson, S. L. J., & Pete, B. M. (2021) · Springer eBooks · doi:10.1007/978-3-030-70913-6_1
Gopalkrishnan, I. K. (2020) · Journal of Psychology · doi:10.31901/24566292.2020/11.1-2.197
Music Teacher Education and Students with Autism
Hammel, A. M., & Hourigan, R. M. (2020) · doi:10.1093/oso/9780190063177.003.0010
Advocacy for Students with Autism in Music Education
Hammel, A. M., & Hourigan, R. M. (2020) · doi:10.1093/oso/9780190063177.003.0008
Autism, Sensory Dysfunction, and Music Education
Hammel, A. M., & Hourigan, R. M. (2020) · doi:10.1093/oso/9780190063177.003.0007
A Team Approach to Teaching Music to Students with Autism Spectrum Disorder
Hammel, A. M., & Hourigan, R. M. (2020) · doi:10.1093/oso/9780190063177.003.0002
Classroom and Ensemble Snapshots of Teaching Music to Students with Autism
Hammel, A. M., & Hourigan, R. M. (2020) · doi:10.1093/oso/9780190063177.003.0009
Understanding Cognition and Students with Autism Spectrum Disorder
Hammel, A. M., & Hourigan, R. M. (2020) · doi:10.1093/oso/9780190063177.003.0004
Understanding Communication and Students with Autism Spectrum Disorder
Hammel, A. M., & Hourigan, R. M. (2020) · doi:10.1093/oso/9780190063177.003.0003
Grimsby, R. (2020) · doi:10.1093/oso/9780190063177.003.0011
Understanding the Socialization of Students with Autism Spectrum Disorder
Hammel, A. M., & Hourigan, R. M. (2020) · doi:10.1093/oso/9780190063177.003.0006
Classroom Behavior and Students with Autism
Hammel, A. M., & Hourigan, R. M. (2020) · doi:10.1093/oso/9780190063177.003.0005
Gopalkrishnan, I. K., & Venkatesan, S. (2021) · Indian Journal of Mental Health(IJMH) · doi:10.30877/ijmh.8.2.2021.200-217
Cabral, R. C. C., Cabral, G. C. C., Mozeli, L. S., Filho, P. P. D. R., & Cabral, H. L. T. B. (2022) · Brazilian Journal of Health Review · doi:10.34119/bjhrv5n2-329
Empathy in Children and Adolescents with Autism Spectrum Disorder: A Systematic Review
Lemos, D., Brandão, T., & Diniz, E. (2026) · Review Journal of Autism and Developmental Disorders · doi:10.1007/s40489-025-00536-8
- Authors
- Rutter, M., & Thapar, A.
- Affiliations
- King's College London (GB)
- Cardiff University (GB)
- Venue
- Handbook of Autism and Pervasive Developmental Disorders, Fourth Edition
- Publisher
- Wiley
- Published
- 2014-04
- OpenAlex
- W1483117610
- Cited by
- 31
- References
- 92
- Citations by year
- 2026: 1 · 2024: 1 · 2023: 1 · 2022: 1 · 2021: 4 · 2020: 16 · 2017: 2 · 2016: 1 · 2015: 2 · 2014: 2
- Type
- other
- Language
- en
- Open access
- closed
- Locations
- ORCA Online Research @Cardiff (Cardiff University) (submittedVersion)
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- autism spectrum disorder, genetic susceptibility, pleiotropy, diagnostic specificity, single nucleotide polymorphisms, rare variants, monogenic disorders, reversibility
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