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What a finding of gene copy number variation can add to the diagnosis of developmental neuropsychiatric disorders

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Mutations in trpγ, the homologue of TRPC6 autism candidate gene, causes autism-like behavioral deficits in Drosophila

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A Genetic Bridge Between Medicine and Neurodiversity for Autism

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LIMITED CONTRIBUTION OF RARE, NONCODING VARIATION TO AUTISM SPECTRUM DISORDER FROM SEQUENCING OF 2,076 GENOMES IN QUARTET FAMILIES

Werling, D. M., Brand, H., An, J., Stone, M. R., Glessner, J., Zhu, L., Collins, R. L., Dong, S., Layer, R. M., Markenscoff-Papadimitriou, E., et al. (2019) · European Neuropsychopharmacology · doi:10.1016/j.euroneuro.2017.08.010 · Cited by 19

Gut Microbiota Analysis and In Silico Biomarker Detection of Children with Autism Spectrum Disorder across Cohorts

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The non-coding genome in Autism Spectrum Disorders

Dominguez-Alonso, S., Carracedo, Á., & Rodriguez‐Fontenla, C. (2023) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2023.104752 · Cited by 20

A systematic review of non-coding RNA genes with differential expression profiles associated with autism spectrum disorders

Stott, J., WRIGHT, T. E., Holmes, J., Wilson, J. C., Griffiths‐Jones, S., Foster, D., & Wright, B. (2023) · PLoS ONE · doi:10.1371/journal.pone.0287131 · Cited by 23

Autism spectrum disorders: autistic phenotypes and complicated mechanisms

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Genetic Instability and Chromatin Remodeling in Spermatids

Cavé, T., Desmarais, R., Lacombe-Burgoyne, C., & Boissonneault, G. (2019) · Genes · doi:10.3390/genes10010040 · Cited by 21

Three generation families: Analysis of de novo variants in autism

Costa, C. I. S., Campos, G. D. S., Montenegro, E. M. D. S., Wang, J. Y. T., Scliar, M. O., Monfardini, F., Zachi, E. C., Lourenço, N. C. V., Chan, A. J. S., Pereira, S. L., et al. (2023) · European Journal of Human Genetics · doi:10.1038/s41431-023-01398-6 · Cited by 19

Regulatory genome variants in human susceptibility to infection

Telenti, A., & di Iulio, J. (2019) · Human Genetics · doi:10.1007/s00439-019-02091-9 · Cited by 19

Heritability of social behavioral phenotypes and preliminary associations with autism spectrum disorder risk genes in rhesus macaques: A whole exome sequencing study

Gunter, C., Harris, R. A., Kovacs‐Balint, Z., Raveendran, M., Michopoulos, V., Bachevalier, J., Raper, J., Sánchez, M. M., & Rogers, J. (2022) · Autism Research · doi:10.1002/aur.2675 · Cited by 17

PhenoSV: interpretable phenotype-aware model for the prioritization of genes affected by structural variants

Xu, Z., Li, Q., Marchionni, L., & Wang, K. (2023) · Nature Communications · doi:10.1038/s41467-023-43651-y · Cited by 22

Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder

Schmitz‐Abe, K., Sánchez‐Schmitz, G., Doan, R. N., Hill, R. S., Chahrour, M. H., Mehta, B. K., Servattalab, S. E., Ataman, B., Lam, A.-T. N., Morrow, E. M., et al. (2020) · Scientific Reports · doi:10.1038/s41598-020-70656-0 · Cited by 18

Genetic modifiers and ascertainment drive variable expressivity of complex disorders

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Role of the Paf1 complex in the maintenance of stem cell pluripotency and development

Park, J., Park, S., & Lee, J. (2022) · FEBS Journal · doi:10.1111/febs.16582 · Cited by 17

The Relevance of Variants With Unknown Significance for Autism Spectrum Disorder Considering the Genotype–Phenotype Interrelationship

Lovato, D. V., Herai, R. H., Pignatari, G. C., & Beltrão-Braga, P. C. B. (2019) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2019.00409 · Cited by 16

The Importance of Large-Scale Genomic Studies to Unravel Genetic Risk Factors for Autism

Nóbrega, I. D. S., Silva, A. L. T. E., Yokota-Moreno, B. Y., & Sertie, A. L. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms25115816 · Cited by 18

Structural variants are a major source of gene expression differences in humans and often affect multiple nearby genesPreprint

Scott, A. J., Chiang, C., & Hall, I. M. (2021) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2021.03.06.434233 · Cited by 16

Autism spectrum disorder genomics: The progress and potential of genomic technologies

Ghrálaigh, F. N., Gallagher, L., & Lopez, L. M. (2020) · Genomics · doi:10.1016/j.ygeno.2020.09.022 · Cited by 14

Integrative genetic analysis: cornerstone of precision psychiatry

Vorstman, J. A. S., Sebat, J. L., Bourque, V.-R., & Jacquemont, S. (2024) · Molecular Psychiatry · doi:10.1038/s41380-024-02706-2 · Cited by 15

GCAT|Panel, a comprehensive structural variant haplotype map of the Iberian population from high-coverage whole-genome sequencing

Valls-Margarit, J., Galván‐Femenía, I., Matías-Sánchez, D., Blay, N., Puiggròs, M., Carreras, A., Salvoro, C., Cortés, B., Amela, R., Farré, X., et al. (2022) · Nucleic Acids Research · doi:10.1093/nar/gkac076 · Cited by 13

Inherited variation contributes to autism

Zahn, L. M. (2018) · Science · doi:10.1126/science.360.6386.280-d

Disparity between Maternal and Paternal Contributions to Inherited Risk for Autism

Antaki, D. (2018) · eScholarship (California Digital Library)

Dysregulation of heterochromatin caused by genomic structural variants may be central to autism spectrum disorder

Garvin, M. R., & Kainer, D. (2025) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2025.1553575 · Cited by 5

An integrative analysis of non-coding regulatory DNA variations associated with autism spectrum disorder

Williams, S. M., An, J., Edson, J., Watts, M. E., Murigneux, V., Whitehouse, A., Jackson, C. J., Bellgrove, M. A., Cristino, A. S., & Claudianos, C. (2018) · Molecular Psychiatry · doi:10.1038/s41380-018-0049-x · Cited by 77

Excess of rare, inherited truncating mutations in autism

Krumm, N., Turner, T. N., Baker, C., Vives, L., Mohajeri, K., Witherspoon, K., Raja, A., Coe, B. P., Stessman, H. A., He, Z.-X., et al. (2015) · Nature Genetics · doi:10.1038/ng.3303 · Cited by 587