Quantifying the effects of 16p11.2 copy number variants on brain structure: a multisite genetic-first study
Open accessAbstract
BACKGROUND: 16p11.2 breakpoint 4 to 5 copy number variants (CNVs) increase the risk for developing autism spectrum disorder, schizophrenia, and language and cognitive impairment. In this multisite study, we aimed to quantify the effect of 16p11.2 CNVs on brain structure. METHODS: Using voxel- and surface-based brain morphometric methods, we analyzed structural magnetic resonance imaging collected at seven sites from 78 individuals with a deletion, 71 individuals with a duplication, and 212 individuals without a CNV. RESULTS: Beyond the 16p11.2-related mirror effect on global brain morphometry, we observe regional mirror differences in the insula (deletion > control > duplication). Other regions are preferentially affected by either the deletion or the duplication: the calcarine cortex and transverse temporal gyrus (deletion > control; Cohen's d > 1), the superior and middle temporal gyri (deletion < control; Cohen's d < -1), and the caudate and hippocampus (control > duplication; -0.5 > Cohen's d > -1). Measures of cognition, language, and social responsiveness and the presence of psychiatric diagnoses do not influence these results. CONCLUSIONS: The global and regional effects on brain morphometry due to 16p11.2 CNVs generalize across site, computational method, age, and sex. Effect sizes on neuroimaging and cognitive traits are comparable. Findings partially overlap with results of meta-analyses performed across psychiatric disorders. However, the lack of correlation between morphometric and clinical measures suggests that CNV-associated brain changes contribute to clinical manifestations but require additional factors for the development of the disorder. These findings highlight the power of genetic risk factors as a complement to studying groups defined by behavioral criteria.
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
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?
MRI studies show reciprocal brain volume changes, with increased gray/white matter in 16p11.2 deletions and decreased gray/white matter in 16p11.2 duplications.
“MRI studies show reciprocal brain volume changes, with increased gray/white matter in 16p11.2 deletions, and decreased gray/white matter in 16p11.2 duplications [14, 23, 49, 50].”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [49]
16p11.2 duplications have reduced cortical thickness, reduced hippocampal volume, and enlarged ventricles.
“16p11.2 duplications also have the reduced cortical thickness [14, 23], reduced hippocampal volume [49] and enlarged ventricles [50, 53, 55].”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [49]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
Diagnostic and Statistical Manual of Mental Disorders, 5th ed.
Carter, M. J. (2014) · Therapeutic Recreation Journal · Cited by 15,154 · see citing works
Statistical parametric maps in functional imaging: A general linear approach
Friston, K. J., Holmes, A. P., Worsley, K. J., Poline, J. ‐., Frith, C. D., & Frackowiak, R. S. J. (1994) · Human Brain Mapping · doi:10.1002/hbm.460020402 · Cited by 9,688 · see citing works
Voxel-Based Morphometry—The Methods
Ashburner, J., & Friston, K. J. (2000) · NeuroImage · doi:10.1006/nimg.2000.0582 · Cited by 8,676 · see citing works
Fischl, B., Salat, D. H., Busa, E., Albert, M., Dieterich, M., Haselgrove, C., van der Kouwe, A., Killiany, R., Kennedy, D., Klaveness, S., et al. (2002) · Neuron · doi:10.1016/s0896-6273(02)00569-x · Cited by 8,610 · see citing works
A fast diffeomorphic image registration algorithm
Ashburner, J. (2007) · NeuroImage · doi:10.1016/j.neuroimage.2007.07.007 · Cited by 8,122 · see citing works
Ashburner, J., & Friston, K. J. (2005) · NeuroImage · doi:10.1016/j.neuroimage.2005.02.018 · Cited by 7,507 · see citing works
Measuring the thickness of the human cerebral cortex from magnetic resonance images
Fischl, B. R., & Dale, A. M. (2000) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.200033797 · Cited by 5,789 · see citing works
Wechsler Abbreviated Scale of Intelligence
Dumont, R., Willis, J. O., Veizel, K., & Zibulsky, J. (2014) · Wiley eBooks · doi:10.1002/9781118660584.ese2519 · Cited by 5,547 · see citing works
Thresholding of statistical maps in functional neuroimaging using the false discovery rate
Genovese, C. R., Lazar, N. A., & Nichols, T. (2002) · NeuroImage · doi:10.1006/nimg.2001.1037 · Cited by 4,923 · see citing works
Wechsler Abbreviated Scale of Intelligence
Wechsler, D. (1999) · PsycTESTS Dataset · doi:10.1037/t15170-000 · Cited by 4,681 · see citing works
Association between Microdeletion and Microduplication at 16p11.2 and Autism
Weiss, L. A., Shen, Y., Korn, J. M., Arking, D. E., Miller, D. T., Fossdal, R., Saemundsen, E., Stefansson, H., Ferreira, M. A. R., Green, T., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa075974 · Cited by 1,666 · see citing works
Self-citationAmaral, D. G., Schumann, C. M., & Nordahl, C. W. (2008) · Trends in Neurosciences · doi:10.1016/j.tins.2007.12.005 · Cited by 1,492 · see citing works
Insights into autism spectrum disorder genomic architecture and biology from 71 risk loci
Sanders, S. J., He, X., Willsey, A. J., Ercan-Sencicek, A. G., Samocha, K. E., Cicek, A. E., Murtha, M. T., Bal, V. H., Bishop, S. L., Dong, S., et al. (2015) · Neuron · doi:10.1016/j.neuron.2015.09.016 · Cited by 1,430 · see citing works
Self-citationIdentification of a Common Neurobiological Substrate for Mental Illness
Goodkind, M., Eickhoff, S. B., Oathes, D. J., Jiang, Y., Chang, A., Jones-Hagata, L. B., Ortega, B. N., Zaiko, Y. V., Roach, E. L., Korgaonkar, M. S., et al. (2015) · JAMA Psychiatry · doi:10.1001/jamapsychiatry.2014.2206 · Cited by 1,404 · see citing works
Buckner, R. L., Head, D. M., Parker, J. B., Fotenos, A. F., Marcus, D. S., Morris, J. C., & Snyder, A. Z. (2004) · NeuroImage · doi:10.1016/j.neuroimage.2004.06.018 · Cited by 1,290 · see citing works
Self-citationEarly brain development in infants at high risk for autism spectrum disorder
The IBIS Network, Hazlett, H. C., Gu, H., Munsell, B. C., Kim, S. H., Styner, M., Wolff, J. J., Elison, J. T., Swanson, M. R., Zhu, H., et al. (2017) · Nature · doi:10.1038/nature21369 · Cited by 1,128 · cited 1× · see citing works
“Biological Psychiatry, 84(4), 253-264.”
Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects
Marshall, C. R., Howrigan, D. P., Merico, D., Thiruvahindrapuram, B., Wu, W., Greer, D. S., Antaki, D., Shetty, A., Holmans, P. A., Pinto, D., et al. (2017) · Nature Genetics · doi:10.1038/ng.3725 · Cited by 1,058 · see citing works
Self-citationBrain structural abnormalities in young children with autism spectrum disorder
Sparks, B. F., Friedman, S. D., Shaw, D. W., Aylward, E. H., Echelard, D., Artru, A. A., Maravilla, K. R., Giedd, J. N., Munson, J., Dawson, G., et al. (2002) · Neurology · doi:10.1212/wnl.59.2.184 · Cited by 961 · see citing works
Self-citationMapping early brain development in autism
Courchesne, E., Pierce, K., Schumann, C. M., Redcay, E., Buckwalter, J. A., Kennedy, D. P., & Morgan, J. (2007) · Neuron · doi:10.1016/j.neuron.2007.10.016 · Cited by 860 · see citing works
Microduplications of 16p11.2 are associated with schizophrenia
Wellcome Trust Case Control Consortium, McCarthy, S. E., Makarov, V., Kirov, G., Addington, A. M., McClellan, J., Yoon, S., Perkins, D. O., Dickel, D. E., Kusenda, M., et al. (2009) · Nature Genetics · doi:10.1038/ng.474 · Cited by 711 · see citing works
Stanfield, A. C., McIntosh, A. M., Spencer, M. D., Philip, R., Gaur, S., & Lawrie, S. M. (2008) · European Psychiatry · doi:10.1016/j.eurpsy.2007.05.006 · Cited by 524 · see citing works
iPSYCH-Broad Autism Group, Weiner, D. J., Psychiatric Genomics Consortium Autism Group, Wigdor, E. M., Ripke, S., Walters, R. K., Kosmicki, J. A., Grove, J., Samocha, K. E., Goldstein, J. I., et al. (2017) · Nature Genetics · doi:10.1038/ng.3863 · Cited by 516 · see citing works
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus
Jacquemont, S., Reymond, A., Zufferey, F., Harewood, L., Walters, R. G., Kutalik, Z., Martinet, D., Shen, Y., Valsesia, A., Beckmann, N. D., et al. (2011) · Nature · doi:10.1038/nature10406 · Cited by 462 · see citing works
Self-citationThe insula: an underestimated brain area in clinical neuroscience, psychiatry, and neurology
Namkung, H., Kim, S.-H., & Sawa, A. (2017) · Trends in Neurosciences · doi:10.1016/j.tins.2017.02.002 · Cited by 462 · see citing works
Constantino, J. N., Davis, S. A., Todd, R. D., Schindler, M. K., Gross, M. M., Brophy, S. L., Metzger, L. M., Shoushtari, C. S., Splinter, R., & Reich, W. (2003) · PsycTESTS Dataset · doi:10.1037/t17260-000 · Cited by 429 · see citing works
Meyer-Lindenberg, A., Mervis, C. B., & Faith Berman, K. (2006) · Nature Reviews Neuroscience · doi:10.1038/nrn1906 · Cited by 411 · see citing works
A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders
Zufferey, F., Sherr, E. H., Beckmann, N. D., Hanson, E., Maillard, A. M., Hippolyte, L., Macé, A., Ferrari, C., Kutalik, Z., Andrieux, J., et al. (2012) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2012-101203 · Cited by 326 · see citing works
Self-citationNeuroanatomical Maps of Psychosis Onset: Voxel-wise Meta-Analysis of Antipsychotic-Naive VBM Studies
Fusar‐Poli, P., Raduà, J., McGuire, P. K., & Borgwardt, S. (2011) · Schizophrenia Bulletin · doi:10.1093/schbul/sbr134 · Cited by 291 · see citing works
Ellegood, J., Anagnostou, E., Babineau, B. A., Crawley, J. N., Lin, L., Genestine, M., DiCicco-Bloom, E., Lai, J. K. Y., Foster, J. A., Peñagarikano, O., et al. (2015) · Molecular Psychiatry · doi:10.1038/mp.2014.98 · Cited by 288 · see citing works
Hanson, E., Bernier, R., Porche, K., Jackson, F. I., Goin-Kochel, R. P., Snyder, L. G., Snow, A. V., Wallace, A. S., Campe, K. L., Zhang, Y., et al. (2015) · Biological Psychiatry · doi:10.1016/j.biopsych.2014.04.021 · Cited by 277 · see citing works
Self-citationDefining the effect of the 16p11.2 duplication on cognition, behavior, and medical comorbidities
D’Angelo, D., Lebon, S., Chen, Q., Martin-Brevet, S., Snyder, L. G., Hippolyte, L., Hanson, E., Maillard, A. M., Faucett, W. A., Macé, A., et al. (2016) · JAMA Psychiatry · doi:10.1001/jamapsychiatry.2015.2123 · Cited by 277 · see citing works
Self-citationAn Experiment of Nature: Brain Anatomy Parallels Cognition and Behavior in Williams Syndrome
Reiss, A. L., Eckert, M. A., Rose, F. E., Karchemskiy, A., Kesler, S. R., Chang, M., Reynolds-May, M. F., Kwon, H., & Galaburda, A. M. (2004) · Journal of Neuroscience · doi:10.1523/jneurosci.5272-03.2004 · Cited by 266 · see citing works
Brain Size and Folding of the Human Cerebral Cortex
Toro, R., Perron, M., Pike, G. B., Richer, L., Veillette, S., Pausová, Z., & Paus, T. (2008) · Cerebral Cortex · doi:10.1093/cercor/bhm261 · Cited by 254 · see citing works
Portmann, T., Yang, M., Mao, R., Panagiotakos, G., Ellegood, J., Dolen, G., Bader, P. L., Grueter, B. A., Goold, C., Fisher, E., et al. (2014) · Cell Reports · doi:10.1016/j.celrep.2014.03.036 · Cited by 245 · see citing works
The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity
16p11.2 European Consortium, Maillard, A. M., Ruef, A., Pizzagalli, F., Migliavacca, E., Hippolyte, L., Adaszewski, S., Dukart, J., Ferrari, C., Conus, P., et al. (2015) · Molecular Psychiatry · doi:10.1038/mp.2014.145 · Cited by 217 · see citing works
Self-citationGenetic influences on schizophrenia and subcortical brain volumes: large-scale proof of concept
Schizophrenia Working Group of the Psychiatric Genomics Consortium, Franke, B., Enigma Consortium, Stein, J. L., Ripke, S., Anttila, V., Hibar, D. P., van Hulzen, K. J. E., Arias-Vasquez, A., Smoller, J. W., et al. (2016) · Nature Neuroscience · doi:10.1038/nn.4228 · Cited by 216 · see citing works
Patterns of nonrandom mating within and across 11 major psychiatric disorders
Nordsletten, A. E., Larsson, H., Crowley, J. J., Almqvist, C., Lichtenstein, P., & Mataix-Cols, D. (2016) · JAMA Psychiatry · doi:10.1001/jamapsychiatry.2015.3192 · Cited by 210 · see citing works
Opposing Brain Differences in 16p11.2 Deletion and Duplication Carriers
Qureshi, A. Y., Mueller, S., Snyder, A. Z., Mukherjee, P., Berman, J. I., Roberts, T. P. L., Nagarajan, S. S., Spiro, J. E., Chung, W. K., Sherr, E. H., et al. (2014) · The Journal of Neuroscience · doi:10.1523/jneurosci.1366-14.2014 · Cited by 183 · see citing works
Self-citationThe Simons VIP Consortium (2012) · Neuron · doi:10.1016/j.neuron.2012.02.014 · Cited by 165 · see citing works
Moreno-De-Luca, A., Evans, D. W., Boomer, K. B., Hanson, E., Bernier, R., Goin-Kochel, R. P., Myers, S. M., Challman, T. D., Moreno-De-Luca, D., Slane, M. M., et al. (2015) · JAMA Psychiatry · doi:10.1001/jamapsychiatry.2014.2147 · Cited by 137 · see citing works
Self-citationBehavioral and Neuroanatomical Phenotypes in Mouse Models of Autism
Ellegood, J., & Crawley, J. N. (2015) · Neurotherapeutics · doi:10.1007/s13311-015-0360-z · Cited by 132 · see citing works
New tissue priors for improved automated classification of subcortical brain structures on MRI
Lorio, S., Fresard, S., Adaszewski, S., Kherif, F., Chowdhury, R., Frackowiak, R. S. J., Ashburner, J., Helms, G., Weiskopf, N., Lutti, A., et al. (2016) · NeuroImage · doi:10.1016/j.neuroimage.2016.01.062 · Cited by 132 · see citing works
Self-citationJalbrzikowski, M., Jonas, R. K., Şentürk, D., Patel, A. B., Chow, C. C., Green, M. F., & Bearden, C. E. (2013) · NeuroImage Clinical · doi:10.1016/j.nicl.2013.09.013 · Cited by 84 · see citing works
The number of genomic copies at the 16p11.2 locus modulates language, verbal memory, and inhibition
Hippolyte, L., Maillard, A. M., Rodriguez-Herreros, B., Pain, A., Martin-Brevet, S., Ferrari, C., Conus, P., Macé, A., Hadjikhani, N., Metspalu, A., et al. (2016) · Biological Psychiatry · doi:10.1016/j.biopsych.2015.10.021 · Cited by 84 · see citing works
Self-citationThe promise and the pitfalls of autism research: An introductory note for new autism researchers
Amaral, D. G. (2010) · Brain Research · doi:10.1016/j.brainres.2010.11.077 · Cited by 75 · see citing works
An improved theoretical P value for SPMs based on discrete local maxima
Worsley, K. J. (2005) · NeuroImage · doi:10.1016/j.neuroimage.2005.06.053 · Cited by 71 · see citing works
Fischl, B. R., Salat, D. H., Busa, E., Albert, M., Dieterich, M., Haselgrove, C., van der Kouwe, A. J. W., Killiany, R., Kennedy, D. N., Klaveness, S., et al. (2002) · Cited by 66 · see citing works
Aberrant Cortical Morphometry in the 22q11.2 Deletion Syndrome
Schmitt, J. E., Vandekar, S., Yi, J. J., Calkins, M. E., Ruparel, K., Roalf, D. R., Whinna, D. A., Souders, M. C., Satterthwaite, T. D., Prabhakaran, K., et al. (2014) · Biological Psychiatry · doi:10.1016/j.biopsych.2014.10.025 · Cited by 66 · see citing works
Enhancing the Informativeness and Replicability of Imaging Genomics Studies
Carter, C. S., Bearden, C. E., Bullmore, E. T., Geschwind, D. H., Glahn, D. C., Gur, R. E., Meyer‐Lindenberg, A., & Weinberger, D. R. (2016) · Biological Psychiatry · doi:10.1016/j.biopsych.2016.08.019 · Cited by 55 · see citing works
Chow, E. W. C., Ho, A., Wei, C. W., Voormolen, E. H. J., Crawley, A. P., & Bassett, A. S. (2011) · American Journal of Psychiatry · doi:10.1176/appi.ajp.2010.10081230 · Cited by 52 · see citing works
Autism spectrum disorders: Neuroimaging findings from systematic reviews
Pua, E. P. K., Bowden, S. C., & Seal, M. L. (2017) · Research in Autism Spectrum Disorders · doi:10.1016/j.rasd.2016.11.005 · Cited by 37 · see citing works
Flagged first, then by citations
Research works printed but not linked: 2
- Wechsler D (2008): WAIS III Echelle d'intelligence pour adultes. Paris: ECPA, Les Editions du Centre de Psychologie Appliquée. Effects of 16p11.2 Copy Number Variants on Neuroanatomy Biological Psychiatry August 15, 2018; 84:253-264 www.sobp.org/journal 263 Biological Psychiatry
- Elliott CD (2006): Differential Abilities Scale-2nd Edition (DAS-II). San Antonio, TX: The Psychological Corporation.
Cited by
Sorted by citations
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
Sønderby, I. E., Ching, C. R. K., Thomopoulos, S. I., van der Meer, D., Sun, D., Villalon‐Reina, J. E., Agartz, I., Amunts, K., Arango, C., Armstrong, N. J., et al. (2022) · Human Brain Mapping · doi:10.1002/hbm.25354 · Cited by 67 · see citing works
Self-citationBristow, G. C., Thomson, D. M., Openshaw, R. L., Mitchell, E. J., Pratt, J. A., Dawson, N., & Morris, B. J. (2020) · Cell Reports · doi:10.1016/j.celrep.2020.107536 · Cited by 36 · see citing works
Cárdenas-de-la-Parra, A., Martin-Brevet, S., Moreau, C., Rodriguez-Herreros, B., Fonov, V. S., Maillard, A. M., Zürcher, N. R., Addor, M.-C., Andrieux, J., Arveiler, B., et al. (2019) · NeuroImage · doi:10.1016/j.neuroimage.2019.116155 · Cited by 14 · see citing works
Self-citation
- Authors
- Martin-Brevet, S., Rodríguez-Herreros, B., Nielsen, J. A., Moreau, C., Modenato, C., Maillard, A. M., Pain, A., Richetin, S., Jønch, A. E., Qureshi, A. Y., Zürcher, N. R., Conus, P., Addor, M.-C., Andrieux, J., Arveiler, B., Baujat, G., Sloan-Béna, F., Belfiore, M., Bonneau, D., Bouquillon, S., Boute, O., Brusco, A., Busa, T., Caberg, J.-H., Campion, D., Colombert, V., Cordier, M.-P., David, A., Debray, F.-G., Delrue, M.-A., Doco-Fenzy, M., Dunkhase-Heinl, U., Edery, P., Fagerberg, C., Faivre, L., Forzano, F., Genevieve, D., Gérard, M., Giachino, D., Guichet, A., Guillin, O., Héron, D., Isidor, B., Jacquette, A., Jaillard, S., Journel, H., Keren, B., Lacombe, D., Lebon, S., Le Caignec, C., Lemaître, M.-P., Lespinasse, J., Mathieu-Dramart, M., Mercier, S., Mignot, C., Missirian, C., Petit, F., Pilekær Sørensen, K., Pinson, L., Plessis, G., Prieur, F., Rooryck-Thambo, C., Rossi, M., Sanlaville, D., Schlott Kristiansen, B., Schluth-Bolard, C., Till, M., Van Haelst, M., Van Maldergem, L., Alupay, H., Aaronson, B., Ackerman, S., Ankenman, K., Anwar, A., Atwell, C., Bowe, A., Beaudet, A. L., Benedetti, M., Berg, J., Berman, J., Berry, L. N., Bibb, A. L., Blaskey, L., Brennan, J., Brewton, C. M., Buckner, R., Bukshpun, P., Burko, J., Cali, P., Cerban, B., Chang, Y., Cheong, M., Chow, V., Chu, Z., Chudnovskaya, D., Cornew, L., Dale, C., Dell, J., Dempsey, A. G., Deschamps, T., Earl, R., Edgar, J., Elgin, J., Olson, J. E., Evans, Y. L., Findlay, A., Fischbach, G. D., Fisk, C., Fregeau, B., Gaetz, B., Gaetz, L., Garza, S., Gerdts, J., Glenn, O., Gobuty, S. E., Golembski, R., Greenup, M., Heiken, K., Hines, K., Hinkley, L., Jackson, F. I., Jenkins, J., Jeremy, R. J., Johnson, K., Kanne, S. M., Kessler, S., Khan, S. Y., Ku, M., Kuschner, E., Laakman, A. L., Lam, P., Lasala, M. W., Lee, H., LaGuerre, K., Levy, S., Cavanagh, A. L., Llorens, A. V., Campe, K. L., Luks, T. L., Marco, E. J., Martin, S., Martin, A. J., Marzano, G., Masson, C., McGovern, K. E., McNally Keehn, R., Miller, D. T., Miller, F. K., Moss, T. J., Murray, R., Nagarajan, S. S., Nowell, K. P., Owen, J., Paal, A. M., Packer, A., Page, P. Z., Paul, B. M., Peters, A., Peterson, D., Poduri, A., Pojman, N. J., Porche, K., Proud, M. B., Qasmieh, S., Ramocki, M. B., Reilly, B., Roberts, T. P. L., Shaw, D., Sinha, T., Smith-Packard, B., Gallagher, A. S., Swarnakar, V., Thieu, T., Triantafallou, C., Vaughan, R., Wakahiro, M., Wallace, A., Ward, T., Wenegrat, J., Wolken, A., Chung, W. K., Sherr, E. H., Spiro, J. E., Kherif, F., Beckmann, J. S., Hadjikhani, N., Reymond, A., Buckner, R. L., Draganski, B., & Jacquemont, S.
- Affiliations
- Harvard University (US)
- Centre Hospitalier Universitaire Sainte-Justine (CA)
- Centre Hospitalier Universitaire Vaudois (CH)
- University of Southern Denmark (DK)
- Simons Foundation (US)
- University of California, San Francisco (US)
- Massachusetts General Hospital (US)
- University of Lausanne (CH)
- Hôpital Necker-Enfants Malades (FR)
- Marconi University (IT)
- Arts et Métiers (FR)
- Systèmes de Référence Temps-Espace (FR)
- Hôpital de la Timone (FR)
- Centre Hospitalier Universitaire de Liège (BE)
- Hospices Civils de Lyon (FR)
- Vejle Sygehus (DK)
- Centre Hospitalier Universitaire de Montpellier (FR)
- Université de Rouen Normandie (FR)
- Institut de Myologie (FR)
- Institut des Sciences Moléculaires (FR)
- Institut de Recherche en Santé, Environnement et Travail (FR)
- Pitié-Salpêtrière Hospital (FR)
- Hôpital Robert-Debré (FR)
- Centre de Recherche Jean Pierre Aubert (FR)
- Centre Hospitalier Universitaire de Caen Normandie (FR)
- Centre Hospitalier Universitaire de Bordeaux (FR)
- Centre de Recherche en Neurosciences de Lyon (FR)
- Laboratoire de Biologie et Modélisation de la Cellule (FR)
- Hammersmith Hospital (GB)
- University of Washington (US)
- Institut National de Recherche pour l'Agriculture, l'Alimentation et l'Environnement (FR)
- Corresponding author
- Jacquemont, Sébastien
- ORCID
- Nielsen, Jared A.
- Moreau, Clara
- Modenato, Claudia
- Maillard, Anne M.
- Jønch, Aia E.
- Qureshi, Abid Y.
- Zürcher, Nicole R.
- Conus, Philippe
- Addor, Marie-Claude
- Baujat, Geneviève
- Bonneau, Dominique
- Brusco, Alfredo
- Busa, Tiffany
- Caberg, Jean-Hubert
- Campion, Dominique
- Delrue, Marie-Ange
- Edery, Patrick
- Fagerberg, Christina
- Faivre, Laurence
- Forzano, Francesca
- Gérard, Marion
- Giachino, Daniela
- Héron, Delphine
- Isidor, Bertrand
- Jacquette, Aurélia
- Jaillard, Sylvie
- Keren, Boris
- Lacombe, Didier
- Lebon, Sébastien
- Mercier, Sandra
- Mignot, Cyril
- Missirian, Chantal
- Petit, Florence
- Prieur, Fabienne
- Rossi, Massimiliano
- Sanlaville, Damien
- Aaronson, Benjamin
- Ankenman, Katy
- Beaudet, Arthur L.
- Berman, Jeffrey
- Berry, Leandra N.
- Blaskey, Lisa
- Brennan, Jonathan
- Chu, Zili
- Chudnovskaya, Darina
- Dale, Corby
- Dempsey, Allison G.
- Deschamps, Trent
- Edgar, James
- Findlay, Anne
- Glenn, Orit
- Hinkley, Leighton
- Jackson, Frank I.
- Jeremy, Rita J.
- Johnson, Kelly
- Kanne, Stephen M.
- Kessler, Sudha
- Kuschner, Emily
- Lee, Hana
- Levy, Susan
- Luks, Tracy L.
- Martin, Alastair J.
- Miller, David T.
- Nagarajan, Srikantan S.
- Nowell, Kerri P.
- Owen, Julia
- Packer, Alan
- Peterson, Danica
- Poduri, Annapurna
- Porche, Ken
- Reilly, Beau
- Roberts, Timothy P.L.
- Shaw, Dennis
- Vaughan, Roger
- Wallace, Arianne
- Chung, Wendy K.
- Sherr, Elliott H.
- Spiro, John E.
- Kherif, Ferath
- Beckmann, Jacques S.
- Hadjikhani, Nouchine
- Reymond, Alexandre
- Draganski, Bogdan
- Jacquemont, Sébastien
- Venue
- Biological Psychiatry
- Publisher
- Elsevier BV
- Published
- 2018-08
- Volume
- 84
- Issue
- 4
- Pages
- 253-264
- ISSN
- 0006-3223 (ISSN-L)
- OpenAlex
- W2795128719
- Cited by
- 75
- References
- 51
- Citations by year
- 2026: 3 · 2025: 7 · 2024: 16 · 2023: 9 · 2022: 5 · 2021: 12 · 2020: 9 · 2019: 12 · 2018: 2
- FWCI
- 5.35
- Type
- journal article
- Language
- en
- Update notices
- erratum (2020-06-15)
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Biological Psychiatry (publishedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- Amsterdam UMC (VU Amsterdam) - Institutional Repository (publishedVersion, other-oa)
- SERVAL (Université de Lausanne) (publishedVersion, cc-by-nc-nd)
- HAL (submittedVersion, cc-by-nc)
- IRIS (submittedVersion, cc-by-nc-nd)
- Institutional Research Information System University of Turin (University of Turin) (submittedVersion, cc-by-nc-nd)
- Pure Amsterdam UMC (submittedVersion, cc-by-nc-nd)
- MPG.PuRe (Max Planck Society) (submittedVersion, other-oa)
- University of Southern Denmark Research Portal (University of Southern Denmark) (submittedVersion, cc-by-nc-nd)
- Max Planck Digital Library (submittedVersion, other-oa)
- Open Repository and Bibliography (University of Liège) (submittedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion, other-oa)
- Funders
- Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung (31003A160203, CRSII33-133044)
- Simons Foundation (SFARI219193, SFARI274424)
- Canada Research Chairs
- Harvard University
- Seventh Framework Programme
- Compute Canada
- Fondation Jean-Louis Lévesque
- National Centres of Competence in Research SwissMAP
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genome Rearrangement Algorithms
- Keywords
- brain morphometry, insula, calcarine cortex, transverse temporal gyrus, caudate nucleus, hippocampus, autism spectrum disorder, schizophrenia, genetic risk factors, brain structure
- MeSH terms
- Autism Spectrum Disorder, Adolescent, Adult, Brain, Child, Chromosome Deletion, Chromosomes, Human, Pair 16, Female, Humans, Language, Magnetic Resonance Imaging, Male, Intellectual Disability, Middle Aged, Schizophrenia, Young Adult, DNA Copy Number Variations, Chromosome Duplication, 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
