Understanding sex bias in autism spectrum disorder

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

Sporadic 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

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

Sanders, S. J., Murtha, M. T., Gupta, A. R., Murdoch, J. D., Raubeson, M. J., Willsey, A. J., Ercan-Sencicek, A. G., DiLullo, N. M., Parikshak, N. N., Stein, J. L., et al. (2012) · Nature · doi:10.1038/nature10945 · Cited by 2,084 · see citing works

The extreme male brain theory of autism

Baron-Cohen, S. (2002) · Trends in Cognitive Sciences · doi:10.1016/s1364-6613(02)01904-6 · Cited by 2,007 · 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

Patterns and rates of exonic de novo mutations in autism spectrum disorders

Neale, B. M., Kou, Y., Liu, L., Ma’ayan, A., Samocha, K. E., Sabo, A., Lin, C.-F., Stevens, C., Wang, L.-S., Makarov, V., et al. (2012) · Nature · doi:10.1038/nature11011 · Cited by 1,734 · 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

Recurrence Risk for Autism Spectrum Disorders: A Baby Siblings Research Consortium Study

Ozonoff, S., Young, G. S., Carter, A., Messinger, D., Yirmiya, N., Zwaigenbaum, L., Bryson, S., Carver, L. J., Constantino, J. N., Dobkins, K., et al. (2011) · Pediatrics · doi:10.1542/peds.2010-2825 · Cited by 1,429 · see citing works

The Extreme Male-Brain Theory of Autism

Baron‐Cohen, S. (1999) · The MIT Press eBooks · doi:10.7551/mitpress/4945.003.0023 · Cited by 1,413 · see citing works

Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism

Sanders, S. J., Ercan-Sencicek, A. G., Hus, V., Luo, R., Murtha, M. T., Moreno-De-Luca, D., Chu, S. H., Moreau, M. P., Gupta, A. R., Thomson, S. A., et al. (2011) · Neuron · doi:10.1016/j.neuron.2011.05.002 · Cited by 1,263 · see citing works

Broader autism phenotype: evidence from a family history study of multiple-incidence autism families

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Rare de novo and transmitted copy-number variation in autistic spectrum disorders

Levy, D., Ronemus, M., Yamrom, B., Lee, Y.-H., Leotta, A., Kendall, J., Marks, S., Lakshmi, B., Pai, D., Ye, K., et al. (2011) · Neuron · doi:10.1016/j.neuron.2011.05.015 · Cited by 712 · see citing works

Examining and interpreting the female protective effect against autistic behavior

Robinson, E. B., Lichtenstein, P., Anckarsäter, H., Happé, F., & Ronald, A. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1211070110 · Cited by 531 · see citing works

Sibling Recurrence and the Genetic Epidemiology of Autism

Constantino, J. N., Zhang, Y., Frazier, T., Abbacchi, A. M., & Law, P. (2010) · American Journal of Psychiatry · doi:10.1176/appi.ajp.2010.09101470 · Cited by 481 · 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

Evidence That Autistic Traits Show the Same Etiology in the General Population and at the Quantitative Extremes (5%, 2.5%, and 1%)

Robinson, E. B. (2011) · Archives of General Psychiatry · doi:10.1001/archgenpsychiatry.2011.119 · Cited by 322 · see citing works

Sex Differences in Children with Autism Spectrum Disorder Identified Within a High-Risk Infant Cohort

Zwaigenbaum, L., Bryson, S. E., Szatmari, P., Brian, J., Smith, I. M., Roberts, W., Vaillancourt, T., & Roncadin, C. (2012) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-012-1515-y · Cited by 178 · see citing works

Lack of evidence for increased genetic loading for autism among families of affected females: A replication from family history data in two large samples

Goin-Kochel, R. P., Abbacchi, A., Constantino, J. N., & Autism Genetic Resource Exchange Consortium (2007) · Autism · doi:10.1177/1362361307076857 · Cited by 47 · see citing works

An evaluation of the role and treatment of elevated male hormones in autism spectrum disorders

Geier, D. A., Kern, J. K., King, P. G., Sykes, L. K., & Geier, M. R. (2012) · Acta Neurobiologiae Experimentalis · doi:10.55782/ane-2012-1876 · Cited by 30 · see citing works

Prevalence and Characteristics of Autism Spectrum Disorder Among Children Aged 8 Years — Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2012

Christensen, D. L., Baio, J., Braun, K. V. N., Bilder, D., Charles, J., Constantino, J. N., Daniels, J., Durkin, M. S., Fitzgerald, R. T., Kurzius-Spencer, M., et al. (2016) · MMWR. Surveillance Summaries · doi:10.15585/mmwr.ss6503a1 · Cited by 1,964 · see citing works

Advancing the understanding of autism disease mechanisms through genetics

de la Torre-Ubieta, L., Won, H., Stein, J. L., & Geschwind, D. H. (2016) · Nature Medicine · doi:10.1038/nm.4071 · Cited by 827 · see citing works

Disentangling the heterogeneity of autism spectrum disorder through genetic findings

Jeste, S. S., & Geschwind, D. H. (2014) · Nature Reviews Neurology · doi:10.1038/nrneurol.2013.278 · Cited by 644 · see citing works

Defining the genetic, genomic, cellular, and diagnostic architectures of psychiatric disorders

Sullivan, P. F., & Geschwind, D. H. (2019) · Cell · doi:10.1016/j.cell.2019.01.015 · Cited by 452 · see citing works

Sex differences in autism spectrum disorder: a review

Ferri, S. L., Abel, T., & Brodkin, E. S. (2018) · Current Psychiatry Reports · doi:10.1007/s11920-018-0874-2 · Cited by 392 · see citing works

16p11.2 Copy Number Variations and Neurodevelopmental Disorders

Rein, B., & Yan, Z. (2020) · Trends in Neurosciences · doi:10.1016/j.tins.2020.09.001 · Cited by 160 · see citing works

Sexually dimorphic behavior, neuronal activity, and gene expression in Chd8-mutant mice

Jung, H., Park, H., Choi, Y., Kang, H., Lee, E., Kweon, H., Roh, J. D., Ellegood, J., Choi, W., Kang, J., et al. (2018) · Nature Neuroscience · doi:10.1038/s41593-018-0208-z · Cited by 157 · see citing works

Sex-specific differences in mitochondria biogenesis, morphology, respiratory function, and ros homeostasis in young mouse heart and brain

Khalifa, A. R. M., Abdel‐Rahman, E. A., Mahmoud, A. M., Ali, M. H., Noureldin, M., Saber, S. H., Mohsen, M., & Ali, S. S. (2017) · Physiological Reports · doi:10.14814/phy2.13125 · Cited by 154 · see citing works

Epigenetics of Autism Spectrum Disorder

Siu, M. T., & Weksberg, R. (2017) · Advances in Experimental Medicine and Biology · doi:10.1007/978-3-319-53889-1_4 · Cited by 121 · see citing works

Sex, hormones, and genotype interact to influence psychiatric disease, treatment, and behavioral research

Gobinath, A. R., Choleris, E., & Galea, L. A. M. (2017) · Journal of Neuroscience Research · doi:10.1002/jnr.23872 · Cited by 87 · see citing works

Using the tools of genetic epidemiology to understand sex differences in neuropsychiatric disorders

Merikangas, A. K., & Almasy, L. (2020) · Genes, Brain and Behavior · doi:10.1111/gbb.12660 · Cited by 82 · see citing works

Current perspectives in autism spectrum disorder: from genes to therapy

Chahrour, M., O'Roak, B. J., Santini, E., Samaco, R. C., Kleiman, R. J., & Manzini, M. C. (2016) · The Journal of Neuroscience · doi:10.1523/jneurosci.2335-16.2016 · Cited by 54 · see citing works

Severity of ASD symptoms and their correlation with the presence of copy number variations and exposure to first trimester ultrasound

Webb, S. J., Garrison, M. M., Bernier, R., McClintic, A. M., King, B. H., & Mourad, P. D. (2017) · Autism Research · doi:10.1002/aur.1690 · Cited by 29 · see citing works

Sex Differences in Body Ownership in Adults With Autism Spectrum Disorder

Guerra, S., Spoto, A., Castiello, U., & Parma, V. (2019) · Frontiers in Psychology · doi:10.3389/fpsyg.2019.00168 · Cited by 8 · see citing works

Do Autism-Specific and General Developmental Screens Have Complementary Clinical Value?

STURNER, R. A., Bergmann, P. E., Howard, B. J., Bet, K., Stewart, L., & Attar, S. M. (2022) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-022-05541-y · Cited by 6 · see citing works

Brief Report: Learning About Autism: Is the Source of Autism Knowledge Associated with Differences in Autism Knowledge, Autism Identity, and Experiences of Stigma

Bury, S., Haschek, A., Wenzel, M., Spoor, J., & Hedley, D. (2022) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-022-05823-5 · Cited by 22 · see citing works

Clinical characteristics of children with mental retardation of unknown etiology in Korea

Yim, S. Y., & Lee, I. Y. (1999) · Journal of Korean Medical Science · doi:10.3346/jkms.1999.14.2.128 · Cited by 2 · see citing works

Which terms should be used to describe autism? Perspectives from the UK autism community

Kenny, L., Hattersley, C., Molins, B., Buckley, C., Povey, C., & Pellicano, E. (2016) · Autism · doi:10.1177/1362361315588200 · Cited by 1,941 · see citing works

Reporting community involvement in autism research: Findings from the journal Autism

Tan, D. W., Crane, L., Haar, T., Heyworth, M., Poulsen, R., & Pellicano, E. (2025) · Autism · doi:10.1177/13623613241275263 · Cited by 35 · see citing works