Mandelli, V. et al. A 3D approach to understanding heterogeneity in early developing autisms. Mol. Autism 15, 41 (2024).

Article  PubMed  PubMed Central  Google Scholar 

Lord, C. et al. Autism spectrum disorder. Nat. Rev. Dis. Primers 6, 5 (2020).

Article  PubMed  PubMed Central  Google Scholar 

Lombardo, M. V., Lai, M. C. & Baron-Cohen, S. Big data approaches to decomposing heterogeneity across the autism spectrum. Mol. Psychiatry 24, 1435–1450 (2019).

Article  PubMed  Google Scholar 

Lord, C., Elsabbagh, M., Baird, G. & Veenstra-Vanderweele, J. Autism spectrum disorder. Lancet 392, 508–520 (2018).

Article  PubMed  PubMed Central  Google Scholar 

Segal, A. et al. Regional, circuit and network heterogeneity of brain abnormalities in psychiatric disorders. Nat. Neurosci. 26, 1613–1629 (2023).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Lombardo, M. V. et al. Atypical genomic cortical patterning in autism with poor early language outcome. Sci. Adv. 7, eabh1663 (2021).

Article  PubMed  PubMed Central  Google Scholar 

Lombardo, M. V. et al. Large-scale associations between the leukocyte transcriptome and BOLD responses to speech differ in autism early language outcome subtypes. Nat. Neurosci. 21, 1680–1688 (2018).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Lombardo, M. V. et al. Different functional neural substrates for good and poor language outcome in autism. Neuron 86, 567–577 (2015).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Müller, R. A. et al. Underconnected, but how? A survey of functional connectivity MRI studies in autism spectrum disorders. Cereb. Cortex 21, 2233–2243 (2011).

Article  PubMed  PubMed Central  Google Scholar 

Uddin, L. Q., Supekar, K. & Menon, V. Reconceptualizing functional brain connectivity in autism from a developmental perspective. Front. Hum. Neurosci. 7, 458 (2013).

Article  PubMed  PubMed Central  Google Scholar 

Hodge, S. M., Haselgrove, C., Honor, L., Kennedy, D. N. & Frazier, J. A. An assessment of the autism neuroimaging literature for the prospects of re-executability. F1000Res. 9, 1031 (2020).

Article  PubMed  PubMed Central  Google Scholar 

de la Torre-Ubieta, L., Won, H., Stein, J. L. & Geschwind, D. H. Advancing the understanding of autism disease mechanisms through genetics. Nat. Med. 22, 345–361 (2016).

Article  PubMed  PubMed Central  Google Scholar 

Satterstrom, F. K. et al. Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism. Cell 180, 568–584 (2020).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Trost, B. et al. Genomic architecture of autism from comprehensive whole-genome sequence annotation. Cell 185, 4409–4427 (2022).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Krumm, N., O’Roak, B. J., Shendure, J. & Eichler, E. E. A de novo convergence of autism genetics and molecular neuroscience. Trends Neurosci. 37, 95–105 (2014).

Article  CAS  PubMed  Google Scholar 

Gandal, M. J. et al. Broad transcriptomic dysregulation occurs across the cerebral cortex in ASD. Nature 611, 532–539 (2022).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Meltzer, A. & Van de Water, J. The role of the immune system in autism spectrum disorder. Neuropsychopharmacology 42, 284–298 (2017).

Article  CAS  PubMed  Google Scholar 

Buch, A. M. et al. Molecular and network-level mechanisms explaining individual differences in autism spectrum disorder. Nat. Neurosci. 26, 650–663 (2023).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Moreau, C. A. et al. Genetic heterogeneity shapes brain connectivity in psychiatry. Biol. Psychiatry 93, 45–58 (2023).

Article  CAS  PubMed  Google Scholar 

Tang, S. et al. Reconciling dimensional and categorical models of autism heterogeneity: a brain connectomics and behavioral study. Biol. Psychiatry 87, 1071–1082 (2020).

Article  PubMed  Google Scholar 

Rasero, J. et al. The neurogenetics of functional connectivity alterations in autism: insights from subtyping in 657 individuals. Biol. Psychiatry 94, 804–813 (2023).

Article  CAS  PubMed  Google Scholar 

Hong, S. J. et al. Toward neurosubtypes in autism. Biol. Psychiatry 88, 111–128 (2020).

Article  PubMed  Google Scholar 

Pagani, M., Gutierrez-Barragan, D., de Guzman, A. E., Xu, T. & Gozzi, A. Mapping and comparing fMRI connectivity networks across species. Commun. Biol. 6, 1238 (2023).

Article  PubMed  PubMed Central  Google Scholar 

Gozzi, A. & Zerbi, V. Modeling brain dysconnectivity in rodents. Biol. Psychiatry 93, 419–429 (2023).

Article  PubMed  Google Scholar 

Shofty, B. et al. Autism-associated Nf1 deficiency disrupts corticocortical and corticostriatal functional connectivity in human and mouse. Neurobiol. Dis. 130, 104479 (2019).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Pagani, M. et al. mTOR-related synaptic pathology causes autism spectrum disorder-associated functional hyperconnectivity. Nat. Commun. 12, 6084 (2021).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Bertero, A. et al. Autism-associated 16p11.2 microdeletion impairs prefrontal functional connectivity in mouse and human. Brain 141, 2055–2065 (2018).

Article  PubMed  Google Scholar 

Alvino, F. G. et al. Synaptic-dependent developmental dysconnectivity in 22q11.2 deletion syndrome. Sci. Adv. 11, eadq2807 (2025).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Silverman, J. L., Yang, M., Lord, C. & Crawley, J. N. Behavioural phenotyping assays for mouse models of autism. Nat. Rev. Neurosci. 11, 490–502 (2010).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Parikshak, N. N. et al. Genome-wide changes in lncRNA, splicing, and regional gene expression patterns in autism. Nature 540, 423–427 (2016).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Gozzi, A. & Schwarz, A. J. Large-scale functional connectivity networks in the rodent brain. Neuroimage 127, 496–509 (2016).

Article  PubMed  Google Scholar 

Hull, J. V. et al. Resting-state functional connectivity in autism spectrum disor