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Deletion of Autism Risk Gene Shank3 Disrupts Prefrontal Connectivity

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Functional Connectivity of the Brain Across Rodents and Humans

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The autism- and schizophrenia-associated protein CYFIP1 regulates bilateral brain connectivity and behaviour

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The gut metabolite indole-3-propionic acid activates ERK1 to restore social function and hippocampal inhibitory synaptic transmission in a 16p11.2 microdeletion mouse model

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Modeling Brain Dysconnectivity in Rodents

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Autism-associated Nf1 deficiency disrupts corticocortical and corticostriatal functional connectivity in human and mouse

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Dissociable Disruptions in Thalamic and Hippocampal Resting-State Functional Connectivity in Youth with 22q11.2 Deletions

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MECP2 Duplication Causes Aberrant GABA Pathways, Circuits and Behaviors in Transgenic Monkeys: Neural Mappings to Patients with Autism

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Dysfunctional d-aspartate metabolism in BTBR mouse model of idiopathic autism

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Molecular and functional heterogeneity in dorsal and ventral oligodendrocyte progenitor cells of the mouse forebrain in response to DNA damage

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Key Synaptic Pathology in Autism Spectrum Disorder: Genetic Mechanisms and Recent Advances

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Acute and Repeated Intranasal Oxytocin Differentially Modulate Brain-wide Functional Connectivity

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Genetic Heterogeneity Shapes Brain Connectivity in Psychiatry

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Neuroimaging Findings in Neurodevelopmental Copy Number Variants: Identifying Molecular Pathways to Convergent Phenotypes

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Ketamine Restores Thalamic-Prefrontal Cortex Functional Connectivity in a Mouse Model of Neurodevelopmental Disorder-Associated 2p16.3 Deletion

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A developmental increase of inhibition promotes the emergence of hippocampal ripples

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The pleiotropic spectrum of proximal 16p11.2 CNVs

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Three case reports of patients indicating the diversity of molecular and clinical features of 16p11.2 microdeletion anomaly

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Resting-State Functional MRI and PET Imaging as Noninvasive Tools to Study (Ab)Normal Neurodevelopment in Humans and Rodents

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Sex-biasing influence of autism-associated Ube3a gene overdosage at connectomic, behavioral, and transcriptomic levels

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The “don’t eat me” signal CD47 is associated with microglial phagocytosis defects and autism-like behaviors in 16p11.2 deletion mice

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Autism subtypes identified using cross-species functional connectivity analyses

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Phospholipid scramblase Xkr8 is required for developmental axon pruning via phosphatidylserine exposure

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16p11.2 deletion mice exhibit compromised fronto-temporal connectivity, GABAergic dysfunction, and enhanced attentional ability

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Behavioural relevance of redundant and synergistic stimulus information between functionally connected neurons in mouse auditory cortex

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Bottom-up sensory processing can induce negative BOLD responses and reduce functional connectivity in nodes of the default mode-like network in rats

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Structural and functional brain-wide alterations in A350V Iqsec2 mutant mice displaying autistic-like behavior

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Adenosine mediates the amelioration of social novelty deficits during rhythmic light treatment of 16p11.2 deletion female mice

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Impaired Functional Connectivity Underlies Fragile X Syndrome

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An improved and simplified protocol to combine Golgi-Cox staining with immunofluorescence and transmission electron microscopy techniques

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Resting-State Functional Connectivity and Psychopathology in Klinefelter Syndrome (47, XXY)

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Subcortical Anatomy of the Default Mode Network: a functional and structural connectivity studyPreprint

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Towards Neurosubtypes in AutismPreprint

Hong, S., Vogelstein, J. T., Gozzi, A., Bernhardt, B. C., Yeo, B. T. T., Milham, M. P., & Martino, A. D. (2019) · PsyArXiv (OSF Preprints) · doi:10.31234/osf.io/8az69 · Cited by 8

Abnormal Auditory Mismatch Fields in Children and Adolescents With 16p11.2 Deletion and 16p11.2 Duplication

Matsuzaki, J., Berman, J., Blaskey, L. G., Kuschner, E. S., Gaetz, L., Mukherjee, P., Buckner, R. L., Nagarajan, S. S., Chung, W. K., Sherr, E. H., et al. (2019) · Biological Psychiatry Cognitive Neuroscience and Neuroimaging · doi:10.1016/j.bpsc.2019.11.005 · Cited by 7

Translational Magnetic Resonance Imaging in Autism Spectrum Disorder From the Mouse Model to Human

Tsurugizawa, T. (2022) · Frontiers in Neuroscience · doi:10.3389/fnins.2022.872036 · Cited by 8

Effects of arginine vasopressin on the transcriptome of prefrontal cortex in autistic rat model

Zhou, B., Yan, X., Yang, L., Zheng, X., Chen, Y., Liu, Y., Ren, Y., Peng, J.-G., Zhang, Y., Huang, J., et al. (2022) · Journal of Cellular and Molecular Medicine · doi:10.1111/jcmm.17578 · Cited by 6

Charting the path in rodent functional neuroimaging

Gozzi, A., Stuefer, A., Alvino, F. G., Bedin, V., Cover, C. G., Kang, C., Galbusera, A., Gil, R., Gini, S., de Guzman, A. E., et al. (2025) · Imaging Neuroscience · doi:10.1162/imag.a.12 · Cited by 7

Neurodevelopmental trajectory and modifiers of 16p11.2 microdeletion: A follow‐up study of four Chinese children carriers

Xie, H., Liu, F., Zhang, Y., Chen, Q., Shangguan, S., Gao, Z., Wu, N., Wang, J., Cui, X., Wang, L., et al. (2020) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.1485 · Cited by 5

Progress in magnetic resonance imaging of autism model mice brain

Yang, D., Zhao, Y., Nie, B., An, L., Wan, X., Wang, Y., Wang, W., Cai, G., & Wu, S. (2022) · Wiley Interdisciplinary Reviews Cognitive Science · doi:10.1002/wcs.1616 · Cited by 5

Cortical excitation:inhibition imbalance causes abnormal brain network dynamics as observed in neurodevelopmental disordersPreprint

Markicevic, M., Fulcher, B. D., Lewis, C., Helmchen, F., Rudin, M., Zerbi, V., & Wenderoth, N. (2018) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/492108 · Cited by 7

Shared Genetic Networks in Schizophrenia and Bipolar Disorder: Hippocampal Volume-Mediated Neurobiological Mechanisms

Du, Q., Yu, M., Shi, L., Fan, R., Liu, K., & Xiang, B. (2025) · Schizophrenia Bulletin · doi:10.1093/schbul/sbaf092 · Cited by 4

Progress towards understanding risk factor mechanisms in the development of autism spectrum disorders

Bryers, A., Hawkes, C. A., Parkin, E. T., & Dawson, N. (2024) · Biochemical Society Transactions · doi:10.1042/bst20231004 · Cited by 3

Pervasive alterations of intra-axonal volume and network organization in young children with a 16p11.2 deletion

Maillard, A. M., Romascano, D., Villalón‐Reina, J. E., Moreau, C. A., Osório, J. M. A., Richetin, S., Junod, V., Yu, P., Mišić, B., Thompson, P. M., et al. (2024) · Translational Psychiatry · doi:10.1038/s41398-024-02810-5 · Cited by 4

The General Impact of Haploinsufficiency on Brain Connectivity Underlies the Pleiotropic Effect of Neuropsychiatric CNVS

Moreau, C. A., Huguet, G., Urchs, S. G. W., Douard, E. A., Sharmarke, H., Orban, P., Labbe, A., Modenato, C., Martin‐Brevet, S., Kumar, K., et al. (2021) · Biological Psychiatry · doi:10.1016/j.biopsych.2021.02.115 · Cited by 3

Neurological Insights into 16p11.2- And 22q11.2-Related Disorders: A Mini-Review

Lu, Y.-H., Chen, Y.-J., Lin, S.-J., Hsu, T., Niu, D., & Lin, W. (2025) · Current Genomics · doi:10.2174/0113892029338299241211063307 · Cited by 3

Connectomic and behavioural alterations in creatine transporter deficiency are partially normalized by gene therapy

Montani, C., Iovino, L., Vetta, F. D., Mariani, J.-C., de Guzman, A. E., Gini, S., Galbusera, A., D’Epifanio, B., Ghirardini, E., Cornuti, S., et al. (2025) · Brain · doi:10.1093/brain/awaf275 · Cited by 3

Consciousness: Mapping the awake mouse brain

Lake, E. M. R. (2022) · Current Biology · doi:10.1016/j.cub.2021.11.033 · Cited by 2

An early enriched experience drives targeted microglial engulfment of miswired neural circuitry during a restricted postnatal period

Rogerson‐Wood, L., Goldsbury, C. S., Sawatari, A., & Leamey, C. A. (2024) · Glia · doi:10.1002/glia.24522 · Cited by 2

Mice with 16p11.2 Deletion and Duplication Show Alterations in Biological Processes Associated with White Matter

Wang, T., Sharp, M., Morella, I., Bedogni, F., Trajkovski, V., Brambilla, R., & Syed, Y. A. (2025) · International Journal of Molecular Sciences · doi:10.3390/ijms26020573 · Cited by 2

Impairment of homeostatic structural plasticity caused by the autism and schizophrenia-associated 16p11.2 duplicationPreprint

Forrest, M. P., Piguel, N. H., Bagchi, V., Dionisio, L., Yoon, S., Santos, M. D., LeDoux, M., & Penzes, P. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.03.06.641931 · Cited by 2

Excess prenatal folic acid supplementation alters cortical gene expression networks and electrophysiologyPreprint

Haghani, V., Ali, S. M., Cannizzaro, N., Patil, M. M., Sullivan, P. D. M., Rehamn, A., Green, R., Ben‐Shalom, R., LaSalle, J. M., & Zarbalis, K. S. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.05.07.652681 · Cited by 2

Differential links in 16p11.2 deletion carriers reveal aberrant connections between large-scale networks

Qureshi, A. Y., Nielsen, J. A., & Sepulcre, J. (2025) · Cerebral Cortex · doi:10.1093/cercor/bhae474 · Cited by 1

Microglia: Mediators of experience-driven corrective neuroplasticity

Rogerson-Wood, L., Sawatari, A., & Leamey, C. (2025) · IBRO Neuroscience Reports · doi:10.1016/j.ibneur.2025.05.013 · Cited by 1

Anti-Diabetic Drugs Inhibit Bulimia Induced Obesity

Li, Z., Jia, J., Hao, H., Qiao, S., Zhang, Q., Zhang, X., Yu, Q., Sun, X., Wang, K., Gu, R., et al. (2023) · Frontiers in Bioscience-Landmark · doi:10.31083/j.fbl2805097 · Cited by 1

Resting state fMRI connectivity mapping across species: Challenges and opportunities

Pagani, M., Gutierrez‐Barragan, D., de Guzman, A. E., & Gozzi, A. (2023) · Elsevier eBooks · doi:10.1016/b978-0-323-91688-2.00009-6 · Cited by 1

The gut metabolite indole-3-propionic acid activates ERK1 to restore social function and hippocampal inhibitory synaptic transmission in a 16p11.2 microdeletion mouse modelPreprint

Jiang, J. W., Chang, J., Wang, D., Yang, X., Wenhui, Z., Yao, P., Jiang, Y., Song, K., Chang, S., Zhang, X.-S., et al. (2023) · Research Square · doi:10.21203/rs.3.rs-2774761/v1 · Cited by 1

Connectomic and behavioral alterations in creatine transporter deficiency are partially normalized by gene therapyPreprint

Montani, C., Iovino, L., Vetta, F. D., Mariani, J.-C. R. P., de Guzman, A. E., Gini, S., Galbusera, A., D’Epifanio, B., Ghirardini, E., Cornuti, S., et al. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.01.12.575377 · Cited by 1

The Somatic Aneuploidy Landscape of Adult Glia Reveals 16p as a Hotspot and Differentiates Mosaicism in Normal Glia from Chromosomal Instability in GlioblastomaPreprint

Montagna, C., Albert, O., Sun, S., Lin, J.-R., Lee, M., Chan, C. S., Maslov, A. Y., Ellerby, L., Huttner, A. J., Zhang, Z. D., et al. (2025) · Research Square · doi:10.21203/rs.3.rs-6497851/v1 · Cited by 1

Phenotypic and Evolutionary Consequences of Deletion, Duplication, and Triplication at 16p11.2Preprint

Suuberg, A. (2018) · SSRN Electronic Journal · doi:10.2139/ssrn.3185741 · Cited by 1

Preliminary evidence that maternal immune activation specifically increases diagonal domain volume in the rat brain during early postnatal developmentPreprint

Wood, T., Edye, M. E., Harte, M., Neill, J. C., Prinssen, E. P. M., & Vernon, A. C. (2018) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/432450

Neural Activity of 16p11.2 CNV Human and Mouse

Al‐Jawahiri, R. (2019) · White Rose eTheses Online (University of Leeds, The University of Sheffield, University of York)

Frontal hypoconnectivity in the 16p11.2 microdeletion autism model

Bertero, A., Pasqualetti, M., Liska, A., David, G., Galbusera, A., & Gozzi, A. (2015) · CINECA IRIS Institutial research information system (University of Pisa) · Cited by 2

283.23 / B36 Autism-associated 16p11.2 microdeletion impacts prefrontal connectivity in humans and mice

Bertero, A., Liska, A., Parolisi, R., Gritti, M., Pedrazzoli, M., Gergely, D., Valetti, G., Galbusera, A., Sarica, A., Cerasa, A., et al. (2017)

16p11.2 deletion mice exhibit compromised fronto-temporal connectivity, GABAergic dysfunction, and enhanced attentional ability

Openshaw, R. L., Thomson, D. M., Bristow, G. C., Mitchell, E. J., Pratt, J. A., MORRIS, B. J., & Dawson, N. (2023) · Communications Biology · doi:10.1038/s42003-023-04891-2 · Cited by 20

Topographic Shifts in Functional Connectivity and Reduced Lateralization in 16p11.2 Deletion Carriers: A Genetics-First Approach to Understanding AutismPreprint

Qureshi, A. Y., Nielsen, J. A., & Sepulcre, J. (2020) · doi:10.21203/rs.3.rs-28618/v1 · Cited by 1

Homozygous Loss of Autism-Risk Gene CNTNAP2 Results in Reduced Local and Long-Range Prefrontal Functional Connectivity

Liska, A., Bertero, A., Gomolka, R. S., Sabbioni, M., Galbusera, A., Barsotti, N., Panzeri, S., Scattoni, M. L., Pasqualetti, M., & Gozzi, A. (2017) · Cerebral Cortex · doi:10.1093/cercor/bhx022 · Cited by 106