The DOI matches its Crossref record; 69 of the 82 references it cites were found in a registry or an index.
Autism-associated 16p11.2 microdeletion impairs prefrontal functional connectivity in mouse and human
Open accessAbstract
Human genetic studies are rapidly identifying variants that increase risk for neurodevelopmental disorders. However, it remains unclear how specific mutations impact brain function and contribute to neuropsychiatric risk. Chromosome 16p11.2 deletion is one of the most common copy number variations in autism and related neurodevelopmental disorders. Using resting state functional MRI data from the Simons Variation in Individuals Project (VIP) database, we show that 16p11.2 deletion carriers exhibit impaired prefrontal connectivity, resulting in weaker long-range functional coupling with temporal-parietal regions. These functional changes are associated with socio-cognitive impairments. We also document that a mouse with the same genetic deficiency exhibits similarly diminished prefrontal connectivity, together with thalamo-prefrontal miswiring and reduced long-range functional synchronization. These results reveal a mechanistic link between specific genetic risk for neurodevelopmental disorders and long-range functional coupling, and suggest that deletion in 16p11.2 may lead to impaired socio-cognitive function via dysregulation of prefrontal connectivity.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
In the citing paper
“Both humans and mice carrying 16p11.2 deletions display reduced prefrontal cortical connectivity [100]”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [100]
In the citing paper
“further suggesting a role for PFC disruption in 16p11.2 CNVs.”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [100]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Power, J. D., Barnes, K. A., Snyder, A. Z., Schlaggar, B. L., & Petersen, S. E. (2012) · NeuroImage · doi:10.1016/j.neuroimage.2011.10.018 · Cited by 7,429
Di Martino, A., Yan, C.-G., Li, Q., Denio, E., Castellanos, F. X., Alaerts, K., Anderson, J. S., Assaf, M., Bookheimer, S. Y., Dapretto, M., et al. (2014) · Molecular Psychiatry · doi:10.1038/mp.2013.78 · Cited by 2,780
Driving fast-spiking cells induces gamma rhythm and controls sensory responses
Cardin, J. A., Carlén, M., Meletis, K., Knoblich, U., Zhang, F., Deisseroth, K., Tsai, L.-H., & Moore, C. I. (2009) · Nature · doi:10.1038/nature08002 · Cited by 2,603
Prediction of individual brain maturity using fMRI
Dosenbach, N. U. F., Nardos, B., Cohen, A. L., Fair, D. A., Power, J. D., Church, J. A., Nelson, S. M., Wig, G. S., Vogel, A. C., Lessov-Schlaggar, C. N., et al. (2010) · Science · doi:10.1126/science.1194144 · Cited by 2,183
The social brain in adolescence
Blakemore, S.-J. (2008) · Nature Reviews Neuroscience · doi:10.1038/nrn2353 · Cited by 1,896
In vivo evidence for post-adolescent brain maturation in frontal and striatal regions
Sowell, E. R., Thompson, P. M., Holmes, C. J., Jernigan, T. L., & Toga, A. W. (1999) · Nature Neuroscience · doi:10.1038/13154 · Cited by 1,439
Anatomical analysis of afferent projections to the medial prefrontal cortex in the rat
Hoover, W. B., & Vertes, R. P. (2007) · Brain Structure and Function · doi:10.1007/s00429-007-0150-4 · Cited by 1,365
Zhan, Y., Paolicelli, R. C., Sforazzini, F., Weinhard, L., Bolasco, G., Pagani, F., Vyssotski, A. L., Bifone, A., Gozzi, A., Ragozzino, D., et al. (2014) · Nature Neuroscience · doi:10.1038/nn.3641 · Cited by 1,236
Self-citationInterneuron dysfunction in psychiatric disorders
Marín, O. (2012) · Nature Reviews Neuroscience · doi:10.1038/nrn3155 · Cited by 1,190
Heritability of autism spectrum disorders: a meta-analysis of twin studies
Tick, B., Bolton, P., Happé, F., Rutter, M., & Rijsdijk, F. (2016) · Journal of Child Psychology and Psychiatry · doi:10.1111/jcpp.12499 · Cited by 1,150
Cited by
Sorted by citations
Alves, P. N., Foulon, C., Karolis, V., Bzdok, D., Margulies, D. S., Volle, E., & Thiebaut de Schotten, M. (2019) · Communications Biology · doi:10.1038/s42003-019-0611-3 · Cited by 357
A synaptic perspective of fragile X syndrome and autism spectrum Disorders.
Bagni, C., & Zukin, R. S. (2019) · Neuron · doi:10.1016/j.neuron.2019.02.041 · Cited by 326
Prefrontal Cortex Development in Health and Disease: Lessons from Rodents and Humans
Chini, M., & Hanganu-Opatz, I. L. (2021) · Trends in Neurosciences · doi:10.1016/j.tins.2020.10.017 · Cited by 253
Common functional networks in the mouse brain revealed by multi-centre resting-state fMRI analysis
Grandjean, J., Canella, C., Anckaerts, C., Ayrancı, G., Bougacha, S., Bienert, T., Buehlmann, D., Coletta, L., Gallino, D., Gass, N., et al. (2019) · NeuroImage · doi:10.1016/j.neuroimage.2019.116278 · Cited by 213
Self-citationLombardi, M., Parolisi, R., Scaroni, F., Bonfanti, E., Gualerzi, A., Gabrielli, M., de Rosbo, N. K., Uccelli, A., Giussani, P., Viani, P., et al. (2019) · Acta Neuropathologica · doi:10.1007/s00401-019-02049-1 · Cited by 191
Self-citation
Metadata
- Authors
- Bertero, A., Liska, A., Pagani, M., Parolisi, R., Masferrer, M. E., Gritti, M., Pedrazzoli, M., Galbusera, A., Sarica, A., Cerasa, A., Buffelli, M., Tonini, R., Buffo, A., Gross, C., Pasqualetti, M., & Gozzi, A.
- Affiliations
- University of Pisa (IT)
- Italian Institute of Technology (IT)
- Neuroscience Institute Cavalieri Ottolenghi (IT)
- European Molecular Biology Laboratory (IT)
- National Research Council (IT)
- Istituto S.Anna Crotone (IT)
- University of Verona (IT)
- Corresponding author
- Gozzi, Alessandro
- ORCID
- Venue
- Brain
- Publisher
- Oxford University Press (OUP)
- Published
- 2018-05-02
- Volume
- 141
- Issue
- 7
- Pages
- 2055-2065
- ISSN
- 0006-8950 (ISSN-L)
- 1460-2156
- OpenAlex
- W2801166051
- Cited by
- 120
- References
- 82
- Citations by year
- 2026: 8 · 2025: 15 · 2024: 13 · 2023: 11 · 2022: 17 · 2021: 15 · 2020: 19 · 2019: 16 · 2018: 6
- FWCI
- 8.32
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Brain (publishedVersion)
- PubMed (publishedVersion)
- Institutional Research Information System University of Turin (University of Turin) (submittedVersion, other-oa)
- CINECA IRIS Institutial research information system (University of Pisa) (submittedVersion, other-oa)
- Funders
- Simons Foundation (SFARI 314688, 400101)
- Brain and Behavior Foundation (2017 NARSAD)
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Functional Brain Connectivity Studies
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Keywords
- 16p11.2 microdeletion, autism spectrum disorder, copy number variation, prefrontal cortex, long-range functional connectivity, resting-state fMRI, mouse model, neurodevelopmental disorders, genetic risk
- MeSH terms
- Adolescent, Animals, Autistic Disorder, Child, Chromosome Deletion, Chromosomes, Human, Pair 16, Cognition, Disease Models, Animal, Female, Humans, Magnetic Resonance Imaging, Male, Membrane Potentials, Intellectual Disability, Nerve Net, Temporal Lobe, Prefrontal Cortex, Mice, Knockout, Chromosome Disorders, Mice, DNA Copy Number Variations, Cognitive Dysfunction, Neurodevelopmental Disorders
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
