Rare chromosomal deletions and duplications increase risk of schizophrenia
Open accessAbstract
Schizophrenia is a severe mental disorder marked by hallucinations, delusions, cognitive deficits and apathy, with a heritability estimated at 73-90% (ref. 1). Inheritance patterns are complex, and the number and type of genetic variants involved are not understood. Copy number variants (CNVs) have been identified in individual patients with schizophrenia and also in neurodevelopmental disorders, but large-scale genome-wide surveys have not been performed. Here we report a genome-wide survey of rare CNVs in 3,391 patients with schizophrenia and 3,181 ancestrally matched controls, using high-density microarrays. For CNVs that were observed in less than 1% of the sample and were more than 100 kilobases in length, the total burden is increased 1.15-fold in patients with schizophrenia in comparison with controls. This effect was more pronounced for rarer, single-occurrence CNVs and for those that involved genes as opposed to those that did not. As expected, deletions were found within the region critical for velo-cardio-facial syndrome, which includes psychotic symptoms in 30% of patients. Associations with schizophrenia were also found for large deletions on chromosome 15q13.3 and 1q21.1. These associations have not previously been reported, and they remained significant after genome-wide correction. Our results provide strong support for a model of schizophrenia pathogenesis that includes the effects of multiple rare structural variants, both genome-wide and at specific loci.
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?
At least some ASD CNVs (and the genes they affect) are under purifying selection.
“These findings, similar to those recently described in schizophrenia 26 , suggest that at least some of these ASD CNVs (and the genes that they affect) are under purifying selection 27 .”
From Functional impact of global rare copy number variation in autism spectrum disorders (2010) · cites this paper as [26]
The main text (page unavailable) reports that rare, gene-intersecting CNVs are enriched in schizophrenia cases. It does not address whether ASD CNVs or the genes they affect are under purifying selection; searches for purifying and negative selection found no passage establishing that point. (LLM, conf=0.73)
Experimental — accuracy not yet measuredThe enrichment of CNVs seen in case-control studies is modest.
“A limitation of this approach is that the enrichment of CNVs seen in case–control studies is modest;2”
From De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia (2012) · cites this paper as [2]
Large (>100 kb) rare (<1%) CNVs occur more frequently in those with schizophrenia than controls.
“Cumulatively, as a general class, large (>100 kb) rare (<1%) CNVs occur more frequently in those with schizophrenia2, 3 than controls”
From De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia (2012) · cites this paper as [2]
The marked elevation in the rate of de novo CNVs contrasts with the relatively modest elevation in the rate of CNVs seen in case-control studies, and suggests that sets of de novos might be more informative for gene-set enrichment analyses.
“This marked elevation in the rate of de novo CNVs contrasts with the relatively modest elevation in the rate of CNVs seen in case–control studies,2, 4 and suggests that sets of de novos might be more informative for gene-set enrichment analyses.”
From De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia (2012) · cites this paper as [2]
The 15q11.2 locus was excluded by the filtering criteria adopted by the ISC.
“and was excluded by the filtering criteria adopted by the ISC,2”
From De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia (2012) · cites this paper as [2]
The elevation of CNVs at loci affected by case de novos is much higher than the overall increase in CNV burden in cases in large published studies.
“This elevation is much higher than the overall increase in CNV burden in cases in the large published studies.2, 4”
From De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia (2012) · cites this paper as [2]
The TAR syndrome 1q21.1 deletion does not overlap the known 1q21.1 schizophrenia locus.
“(which does not overlap the known 1q21.1 schizophrenia locus2, 7)”
From De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia (2012) · cites this paper as [2]
Recurrent CNVs initially observed in ID or ASD are also found in adults with epilepsy, bipolar disorder, or schizophrenia, suggesting genetic overlap among these disorders.
“many of these same recurrent CNVs observed initially in patients with ID [15] or ASD [16] have been identified in adults with epilepsy [17], bipolar disorder [18], or schizophrenia [19,20], suggesting overlap in the genetic etiology of these disorders.”
From A de novo convergence of autism genetics and molecular neuroscience (2014) · cites this paper as [20]
PAK7 and GABRD have been associated with schizophrenia.
“PAK7 and GABRD which have been associated with schizophrenia49–52.”
From Oxytocin pathway gene networks in the human brain (2019) · cites this paper as [51]
One report found more rare SV in SCZ cases (odds ratio, OR=1.15), particularly for large deletions (OR=3.6).
“One report found more rare SV in SCZ cases (odds ratio, OR=1.15), particularly for large deletions (OR=3.6). 48”
From Genetic architectures of psychiatric disorders: the emerging picture and its implications (2012) · cites this paper as [48]
Increased SV burden in SCZ cases has been reported by multiple groups.
“Increased SV burden in SCZ cases has been reported by multiple groups. 47,48,50”
From Genetic architectures of psychiatric disorders: the emerging picture and its implications (2012) · cites this paper as [48]
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
PLINK: a tool set for whole-genome association and population-based linkage analyses.
Purcell, S., Neale, B., Todd-Brown, K., Thomas, L., Ferreira, M. A. R., Bender, D., Maller, J., Sklar, P., de Bakker, P. I. W., Daly, M. J., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/519795 · Cited by 34,089 · see citing works
Self-citationStrong association of de novo copy number mutations with autism
Sebat, J., Lakshmi, B., Malhotra, D., Troge, J., Lese-Martin, C., Walsh, T., Yamrom, B., Yoon, S., Krasnitz, A., Kendall, J., et al. (2007) · Science · doi:10.1126/science.1138659 · Cited by 2,795 · see citing works
Schizophrenia as a Complex Trait: Evidence From a Meta-analysis of Twin Studies
Sullivan, P. F., Kendler, K. S., & Neale, M. C. (2003) · Archives of General Psychiatry · doi:10.1001/archpsyc.60.12.1187 · Cited by 2,356 · see citing works
Structural Variation of Chromosomes in Autism Spectrum Disorder
Marshall, C. R., Noor, A., Vincent, J. B., Lionel, A. C., Feuk, L., Skaug, J., Shago, M., Moessner, R., Pinto, D., Ren, Y., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2007.12.009 · Cited by 1,815 · see citing works
Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia
Walsh, T., McClellan, J. M., McCarthy, S. E., Addington, A. M., Pierce, S. B., Cooper, G. M., Nord, A. S., Kusenda, M., Malhotra, D., Bhandari, A., et al. (2008) · Science · doi:10.1126/science.1155174 · Cited by 1,800 · see citing works
Large recurrent microdeletions associated with schizophrenia.
GROUP, Stefansson, H., Rujescu, D., Cichon, S., Pietiläinen, O. P. H., Ingason, A., Steinberg, S., Fossdal, R., Sigurdsson, E., Sigmundsson, T., et al. (2008) · Nature · doi:10.1038/nature07229 · Cited by 1,745 · 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
Linkage of a neurophysiological deficit in schizophrenia to a chromosome 15 locus
Freedman, R., Coon, H., Myles-Worsley, M., Orr-Urtreger, A., Olincy, A., Davis, A., Polymeropoulos, M., Holik, J., Hopkins, J., Hoff, M., et al. (1997) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.94.2.587 · Cited by 1,141 · see citing works
Integrated detection and population-genetic analysis of SNPs and copy number variation
McCarroll, S. A., Kuruvilla, F. G., Korn, J. M., Cawley, S., Nemesh, J., Wysoker, A., Shapero, M. H., de Bakker, P. I. W., Maller, J. B., Kirby, A., et al. (2008) · Nature Genetics · doi:10.1038/ng.238 · Cited by 936 · see citing works
Genome architecture, rearrangements and genomic disorders
Stankiewicz, P., & Lupski, J. R. (2002) · Trends in Genetics · doi:10.1016/s0168-9525(02)02592-1 · Cited by 915 · see citing works
Lee, J. A., Carvalho, C. M. B., & Lupski, J. R. (2007) · Cell · doi:10.1016/j.cell.2007.11.037 · Cited by 914 · see citing works
Lupski, J. R. (1998) · Trends in Genetics · doi:10.1016/s0168-9525(98)01555-8 · Cited by 908 · see citing works
Korn, J. M., Kuruvilla, F. G., McCarroll, S. A., Wysoker, A., Nemesh, J., Cawley, S., Hubbell, E., Veitch, J., Collins, P. J., Darvishi, K., et al. (2008) · Nature Genetics · doi:10.1038/ng.237 · Cited by 783 · see citing works
Sharp, A. J., Hansen, S., Selzer, R. R., Cheng, Z., Regan, R., Hurst, J. A., Stewart, H., Price, S. M., Blair, E., Hennekam, R. C., et al. (2006) · Nature Genetics · doi:10.1038/ng1862 · Cited by 658 · 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., Sæmundsen, E., Stefánsson, H., Ferreira, M. A. R., Green, T. J., et al. (2008) · Obstetrical & Gynecological Survey · doi:10.1097/01.ogx.0000316305.61461.6f · Cited by 647 · see citing works
Schizophrenia susceptibility associated with interstitial deletions of chromosome 22q11.
Karayiorgou, M., Morris, M. A., Morrow, B., Shprintzen, R. J., Goldberg, R., Borrow, J., Gos, A., Nestadt, G., Wolyniec, P. S., & Lasseter, V. K. (1995) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.92.17.7612 · Cited by 628 · see citing works
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures.
Sharp, A. J., Mefford, H. C., Li, K., Baker, C., Skinner, C., Stevenson, R. E., Schroer, R. J., Novara, F., De Gregori, M., Ciccone, R., et al. (2008) · Nature Genetics · doi:10.1038/ng.93 · Cited by 582 · see citing works
Shaikh, T. H. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.4.489 · Cited by 526 · see citing works
Location of a Major Susceptibility Locus for Familial Schizophrenia on Chromosome 1q21-q22
Brzustowicz, L. M., Hodgkinson, K. A., Chow, E. W. C., Honer, W. G., & Bassett, A. S. (2000) · Science · doi:10.1126/science.288.5466.678 · Cited by 516 · see citing works
Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia
Kirov, G., Gumus, D., Chen, W., Norton, N., Georgieva, L., Sari, M., O'Donovan, M. C., Erdogan, F., Owen, M. J., Ropers, H.-H., et al. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm323 · Cited by 377 · see citing works
Gurling, H., Kalsi, G., Brynjolfsson, J., Sigmundsson, T., Sherrington, R. P., Mankoo, B. S., Read, T., Murphy, P. L., Blaveri, E., McQuillin, A., et al. (2001) · The American Journal of Human Genetics · doi:10.1086/318788 · Cited by 373 · see citing works
CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy
Friedman, J. I., Vrijenhoek, T., Markx, S., Janssen, I. M., van der Vliet, W. A., Faas, B. H. W., Knoers, N. V. A. M., Cahn, W., Kahn, R. S., Edelmann, L. J., et al. (2007) · Molecular Psychiatry · doi:10.1038/sj.mp.4002049 · Cited by 297 · see citing works
Genomic Rearrangements and Gene Copy-Number Alterations as a Cause of Nervous System Disorders
Lee, J. A., & Lupski, J. R. (2006) · Neuron · doi:10.1016/j.neuron.2006.09.027 · Cited by 289 · see citing works
Wilson, G. M., Flibotte, S., Chopra, V. S., Melnyk, B. L., Honer, W. G., & Holt, R. A. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddi489 · Cited by 167 · see citing works
Ross, C. A., & Pearlson, G. D. (1996) · Trends in Neurosciences · doi:10.1016/s0166-2236(96)10022-9 · Cited by 139 · see citing works
Linkage of schizophrenia with chromosome 1q loci in Taiwanese families
Hwu, H., Liu, C.-M., Fann, C. S. J., Ouyang, W. ‐., & Lee, S. F. ‐. (2003) · Molecular Psychiatry · doi:10.1038/sj.mp.4001235 · Cited by 129 · see citing works
Shaikh, T. H., O’Connor, R. J., Pierpont, M. E., McGrath, J. M., Hacker, A. M., Nimmakayalu, M. A., Geiger, E. A., Emanuel, B. S., & Saitta, S. C. (2007) · Genome Research · doi:10.1101/gr.5986507 · Cited by 124 · see citing works
Xu, J., Pato, M. T., Torre, C. D., Medeiros, H., Carvalho, C. B., Basile, V. S., Bauer, A., Dourado, A., Valente, J., Soares, M. J., et al. (2001) · American Journal of Medical Genetics · doi:10.1002/ajmg.1549 · Cited by 84 · see citing works
Array comparative genomic hybridization (aCGH) analysis in Prader–Willi syndrome
Butler, M. G., Fischer, W., Kibiryeva, N., & Bittel, D. C. (2008) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32249 · Cited by 81 · see citing works
Flomen, R. H., Collier, D. A., Osborne, S., Munro, J., Breen, G. D., Clair, D. S., & MAKOFF, A. J. (2006) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30306 · Cited by 79 · see citing works
Moon, H., Yim, S., Lee, W. K., Jeon, Y., Kim, Y.-H., Ko, Y. J., Lee, K., Lee, K.-H., Han, S.-I., & Rha, H. K. (2006) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2006.03.156 · Cited by 47 · see citing works
Chromosome 22 Deletion Syndrome And Schizophrenia
Williams, N. M., O’Donovan, M. C., & Owen, M. J. (2006) · International review of neurobiology · doi:10.1016/s0074-7742(06)73001-x · Cited by 16 · see citing works
Flagged first, then by citations
Cited by
Sorted by citations
Finding the missing heritability of complex diseases
Manolio, T. A., Collins, F. S., Cox, N. J., Goldstein, D. B., Hindorff, L. A., Hunter, D. J., McCarthy, M. I., Ramos, E. M., Cardon, L. R., Chakravarti, A., et al. (2009) · Nature · doi:10.1038/nature08494 · Cited by 8,336 · see citing works
Self-citationCommon polygenic variation contributes to risk of schizophrenia and bipolar disorder
The International Schizophrenia Consortium (2009) · Nature · doi:10.1038/nature08185 · Cited by 4,821 · see citing works
The Dopamine Hypothesis of Schizophrenia: Version III--The Final Common Pathway
Howes, O. D., & Kapur, S. (2009) · Schizophrenia Bulletin · doi:10.1093/schbul/sbp006 · Cited by 2,693 · see citing works
Functional impact of global rare copy number variation in autism spectrum disorders
Pinto, D., Pagnamenta, A. T., Klei, L., Anney, R., Merico, D., Regan, R., Conroy, J., Magalhaes, T. R., Correia, C., Abrahams, B. S., et al. (2010) · Nature · doi:10.1038/nature09146 · Cited by 2,013 · see citing works
Self-citationAnimal models of neuropsychiatric disorders
Nestler, E. J., & Hyman, S. E. (2010) · Nature Neuroscience · doi:10.1038/nn.2647 · Cited by 2,023 · see citing works
Large recurrent microdeletions associated with schizophrenia.
GROUP, Stefansson, H., Rujescu, D., Cichon, S., Pietiläinen, O. P. H., Ingason, A., Steinberg, S., Fossdal, R., Sigurdsson, E., Sigmundsson, T., et al. (2008) · Nature · doi:10.1038/nature07229 · Cited by 1,745 · see citing works
Personal genomes: The case of the missing heritability
Maher, B. (2008) · Nature · doi:10.1038/456018a · Cited by 1,737 · see citing works
Common variants conferring risk of schizophrenia
†Genetic Risk and Outcome in Psychosis (GROUP), Stefansson, H., Ophoff, R. A., Steinberg, S., Andreassen, O. A., Cichon, S., Rujescu, D., Werge, T., Pietiläinen, O. P. H., Mors, O., et al. (2009) · Nature · doi:10.1038/nature08186 · Cited by 1,677 · see citing works
Self-citationA polygenic burden of rare disruptive mutations in schizophrenia
Purcell, S. M., Moran, J. L., Fromer, M., Ruderfer, D., Solovieff, N., Roussos, P., O’Dushlaine, C., Chambert, K., Bergen, S. E., Kähler, A., et al. (2014) · Nature · doi:10.1038/nature12975 · Cited by 1,385 · see citing works
A copy number variation morbidity map of developmental delay
Cooper, G. M., Coe, B. P., Girirajan, S., Rosenfeld, J. A., Vu, T. H., Baker, C., Williams, C., Stalker, H., Hamid, R., Hannig, V., et al. (2011) · Nature Genetics · doi:10.1038/ng.909 · Cited by 1,351 · see citing works
Modelling schizophrenia using human induced pluripotent stem cells
Brennand, K. J., Simone, A., Jou, J., Gelboin-Burkhart, C., Tran, N., Sangar, S., Li, Y., Mu, Y., Chen, G., Yu, D., et al. (2011) · Nature · doi:10.1038/nature09915 · Cited by 1,375 · see citing works
Sanders, S. J., Ercan-Sencicek, A. G., Hus, V., Luo, R., Murtha, M. T., Moreno-De-Luca, D., Chu, S. H., Moreau, M. P., Gupta, A. R., Thomson, S. A., et al. (2011) · Neuron · doi:10.1016/j.neuron.2011.05.002 · Cited by 1,263 · see citing works
Structural Variation in the Human Genome and its Role in Disease
Stankiewicz, P., & Lupski, J. R. (2010) · Annual Review of Medicine · doi:10.1146/annurev-med-100708-204735 · Cited by 1,201 · see citing works
Copy number variation in human health, disease, and evolution
Zhang, F., Gu, W., Hurles, M. E., & Lupski, J. R. (2009) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.9.081307.164217 · Cited by 1,207 · see citing works
Genetic architectures of psychiatric disorders: the emerging picture and its implications
Sullivan, P. F., Daly, M. J., & O'Donovan, M. (2012) · Nature Reviews Genetics · doi:10.1038/nrg3240 · Cited by 1,177 · see citing works
Self-citationContribution 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
A Groupwise Association Test for Rare Mutations Using a Weighted Sum Statistic
Madsen, B. E., & Browning, S. R. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000384 · Cited by 1,113 · see citing works
Human genetic variation and its contribution to complex traits
Frazer, K. A., Murray, S. S., Schork, N. J., & Topol, E. J. (2009) · Nature Reviews Genetics · doi:10.1038/nrg2554 · Cited by 1,073 · see citing works
Myocardial Infarction Genetics Consortium (2009) · Nature Genetics · doi:10.1038/ng.327 · Cited by 1,088 · see citing works
Shared molecular neuropathology across major psychiatric disorders parallels polygenic overlap
Gandal, M. J., Haney, J. R., Parikshak, N. N., Leppa, V., Ramaswami, G., Hartl, C., Schork, A. J., Appadurai, V., Buil, A., Werge, T. M., et al. (2018) · Science · doi:10.1126/science.aad6469 · Cited by 1,095 · see citing works
Self-citationThe Diagnosis of Mental Disorders: The Problem of Reification
Hyman, S. E. (2010) · Annual Review of Clinical Psychology · doi:10.1146/annurev.clinpsy.3.022806.091532 · Cited by 1,052 · see citing works
Initial impact of the sequencing of the human genome
Lander, E. S. (2011) · Nature · doi:10.1038/nature09792 · Cited by 1,044 · see citing works
Genetic Heterogeneity in Human Disease
McClellan, J., & King, M.-C. (2010) · Cell · doi:10.1016/j.cell.2010.03.032 · Cited by 981 · see citing works
CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics
Malhotra, D., & Sebat, J. (2012) · Cell · doi:10.1016/j.cell.2012.02.039 · Cited by 854 · see citing works
Kirov, G., Pocklington, A. J., Holmans, P., Ivanov, D., Ikeda, M., Ruderfer, D., Moran, J., Chambert, K., Toncheva, D., Georgieva, L., et al. (2012) · Molecular Psychiatry · doi:10.1038/mp.2011.154 · Cited by 844 · see citing works
Self-citationThe Neurodevelopmental Hypothesis of Schizophrenia, Revisited
Fatemi, S. H., & Folsom, T. D. (2009) · Schizophrenia Bulletin · doi:10.1093/schbul/sbn187 · Cited by 860 · see citing works
The Genetics of Alzheimer Disease: Back to the Future
Bertram, L., Lill, C. M., & Tanzi, R. E. (2010) · Neuron · doi:10.1016/j.neuron.2010.10.013 · Cited by 834 · see citing works
The Wellcome Trust Case Control Consortium (2010) · Nature · doi:10.1038/nature08979 · Cited by 807 · see citing works
Korn, J. M., Kuruvilla, F. G., McCarroll, S. A., Wysoker, A., Nemesh, J., Cawley, S., Hubbell, E., Veitch, J., Collins, P. J., Darvishi, K., et al. (2008) · Nature Genetics · doi:10.1038/ng.237 · Cited by 783 · see citing works
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes
Mefford, H. C., Sharp, A. J., Baker, C., Itsara, A., Jiang, Z., Buysse, K., Huang, S., Maloney, V. K., Crolla, J. A., Baralle, D., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa0805384 · Cited by 804 · see citing works
Self-citationNeurodevelopmental model of schizophrenia: update 2012
Rapoport, J. L., Giedd, J. N., & Gogtay, N. (2012) · Molecular Psychiatry · doi:10.1038/mp.2012.23 · Cited by 790 · 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
Self-citationCopy-number variations associated with neuropsychiatric conditions
Cook Jr, E. H., & Scherer, S. W. (2008) · Nature · doi:10.1038/nature07458 · Cited by 659 · see citing works
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
Girirajan, S., Rosenfeld, J. A., Cooper, G. M., Antonacci, F., Siswara, P., Itsara, A., Vives, L., Walsh, T., McCarthy, S. E., Baker, C., et al. (2010) · Nature Genetics · doi:10.1038/ng.534 · Cited by 667 · see citing works
Brunetti-Pierri, N., Berg, J. S., Scaglia, F., Belmont, J., Bacino, C. A., Sahoo, T., Lalani, S. R., Graham, B., Lee, B., Shinawi, M., et al. (2008) · Nature Genetics · doi:10.1038/ng.279 · Cited by 625 · see citing works
Shinawi, M., Liu, P., Kang, S.-H. L., Shen, J., Belmont, J. W., Scott, D. A., Probst, F. J., Craigen, W. J., Graham, B. H., Pursley, A., et al. (2010) · Journal of Medical Genetics · doi:10.1136/jmg.2009.073015 · Cited by 580 · see citing works
Population analysis of large copy number variants and hotspots of human genetic disease
Itsara, A., Cooper, G. M., Baker, C., Girirajan, S., Li, J., Absher, D., Krauss, R. M., Myers, R. M., Ridker, P. M., Chasman, D. I., et al. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.12.014 · Cited by 591 · see citing works
Talkowski, M. E., Rosenfeld, J. A., Blumenthal, I., Pillalamarri, V., Chiang, C., Heilbut, A., Ernst, C., Hanscom, C., Rossin, E., Lindgren, A. M., et al. (2012) · Cell · doi:10.1016/j.cell.2012.03.028 · Cited by 577 · see citing works
Self-citationThe Kraepelinian dichotomy – going, going … but still not gone
Craddock, N., & Owen, M. J. (2010) · British Journal of Psychiatry · doi:10.1192/bjp.bp.109.073429 · Cited by 587 · see citing works
Human-Specific NOTCH2NL Genes Affect Notch Signaling and Cortical Neurogenesis
Fiddes, I. T., Lodewijk, G. A., Mooring, M., Bosworth, C. M., Ewing, A. D., Mantalas, G. L., Novak, A. M., van den Bout, A., Bishara, A., Rosenkrantz, J. L., et al. (2018) · Cell · doi:10.1016/j.cell.2018.03.051 · Cited by 595 · see citing works
Gulsuner, S., Walsh, T., Watts, A. C., Lee, M. K., Thornton, A. M., Casadei, S., Rippey, C., Shahin, H., Braff, D., Cadenhead, K. S., et al. (2013) · Cell · doi:10.1016/j.cell.2013.06.049 · Cited by 536 · see citing works
Williams, N. M., Zaharieva, I., Martin, A., Langley, K., Mantripragada, K., Fossdal, R., Stefansson, H., Stefansson, K., Magnusson, P., Gudmundsson, O. O., et al. (2010) · The Lancet · doi:10.1016/s0140-6736(10)61109-9 · Cited by 572 · see citing works
Self-citation15q13.3 microdeletions increase risk of idiopathic generalized epilepsy.
Helbig, I., Mefford, H. C., Sharp, A. J., Guipponi, M., Fichera, M., Franke, A., Muhle, H., de Kovel, C., Baker, C., von Spiczak, S., et al. (2009) · Nature Genetics · doi:10.1038/ng.292 · Cited by 551 · see citing works
Elia, J., Gai, X., Xie, H. M., Perin, J. C., Geiger, E., Glessner, J. T., D'arcy, M., deBerardinis, R., Frackelton, E., Kim, C., et al. (2010) · Molecular Psychiatry · doi:10.1038/mp.2009.57 · Cited by 529 · see citing works
Disruption of the neurexin 1 gene is associated with schizophrenia
Rujescu, D., Ingason, A., Cichon, S., Pietiläinen, O. P. H., Barnes, M. R., Toulopoulou, T., Picchioni, M., Vassos, E., Ettinger, U., Bramon, E., et al. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddn351 · Cited by 471 · see citing works
Study, S. S., Singh, T., Study, I., Study, D., UK10 K Consortium, Kurki, M. I., Curtis, D., Purcell, S. M., Crooks, L., McRae, J., et al. (2016) · Nature Neuroscience · doi:10.1038/nn.4267 · Cited by 452 · see citing works
Mefford, H. C., Muhle, H., Ostertag, P., von Spiczak, S., Buysse, K., Baker, C., Franke, A., Malafosse, A., Genton, P., Thomas, P., et al. (2010) · PLoS Genetics · doi:10.1371/journal.pgen.1000962 · Cited by 474 · see citing works
Genomewide Association Studies: History, Rationale, and Prospects for Psychiatric Disorders
Psychiatric GWAS Consortium Coordinating Committee (2009) · American Journal of Psychiatry · doi:10.1176/appi.ajp.2008.08091354 · Cited by 450 · see citing works
Genetics and genomics of psychiatric disease
Geschwind, D. H., & Flint, J. (2015) · Science · doi:10.1126/science.aaa8954 · Cited by 424 · see citing works
Leblond, C. S., Heinrich, J., Delorme, R., Proepper, C., Betancur, C., Huguet, G., Konyukh, M., Chaste, P., Ey, E., Rastam, M., et al. (2012) · PLoS Genetics · doi:10.1371/journal.pgen.1002521 · Cited by 429 · see citing works
Levinson, D. F., Duan, J., Oh, S., Wang, K., Sanders, A. R., Shi, J., Zhang, N., Mowry, B. J., Olincy, A., Amin, F., et al. (2011) · American Journal of Psychiatry · doi:10.1176/appi.ajp.2010.10060876 · Cited by 434 · see citing works
Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies
de Kovel, C. G. F., Trucks, H., Helbig, I., Mefford, H. C., Baker, C., Leu, C., Kluck, C., Muhle, H., von Spiczak, S., Ostertag, P., et al. (2010) · Brain · doi:10.1093/brain/awp262 · Cited by 445 · see citing works
A de novo convergence of autism genetics and molecular neuroscience
Krumm, N., O’Roak, B. J., Shendure, J., & Eichler, E. E. (2014) · Trends in Neurosciences · doi:10.1016/j.tins.2013.11.005 · Cited by 423 · see citing works
Analysis of copy number variations at 15 schizophrenia-associated loci
Rees, E., Walters, J. T. R., Georgieva, L., Isles, A. R., Chambert, K. D., Richards, A. L., Mahoney-Davies, G., Legge, S. E., Moran, J. L., McCarroll, S. A., et al. (2014) · British Journal of Psychiatry · doi:10.1192/bjp.bp.113.131052 · Cited by 443 · see citing works
Self-citationGuilmatre, A., Dubourg, C., Mosca, A.-L., Legallic, S., Goldenberg, A., Drouin-Garraud, V., Layet, V., Rosier, A., Briault, S., Bonnet-Brilhault, F., et al. (2009) · Archives of General Psychiatry · doi:10.1001/archgenpsychiatry.2009.80 · Cited by 429 · see citing works
The genetics of bipolar disorder
Barnett, J. H., & Smoller, J. W. (2009) · Neuroscience · doi:10.1016/j.neuroscience.2009.03.080 · Cited by 407 · see citing works
Support for the involvement of large copy number variants in the pathogenesis of schizophrenia.
Kirov, G., Grozeva, D., Norton, N., Ivanov, D., Mantripragada, K. K., Holmans, P., International Schizophrenia Consortium, the Wellcome Trust Case Control Consortium, Craddock, N., Owen, M. J., et al. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp043 · Cited by 390 · see citing works
Self-citationMoskvina, V, Craddock, N., Holmans, P., Nikolov, I., Pahwa, J. S., Green, E., Wellcome Trust Case Control Consortium, Owen, M. J., & O'Donovan, M. C. (2009) · Molecular Psychiatry · doi:10.1038/mp.2008.133 · Cited by 363 · see citing works
Mapping and characterization of structural variation in 17,795 human genomes
Genomics, N. C. F. C. D., Abel, H. J., Larson, D. E., Regier, A. A., Chiang, C., Das, I., Kanchi, K. L., Layer, R. M., Neale, B. M., Salerno, W. J., et al. (2020) · Nature · doi:10.1038/s41586-020-2371-0 · Cited by 310 · see citing works
The Penetrance of Copy Number Variations for Schizophrenia and Developmental Delay
Kirov, G., Rees, E., Walters, J. T. R., Escott-Price, V., Georgieva, L., Richards, A. L., Chambert, K. D., Davies, G., Legge, S. E., Moran, J. L., et al. (2014) · Biological Psychiatry · doi:10.1016/j.biopsych.2013.07.022 · Cited by 368 · see citing works
Self-citationOxytocin pathway gene networks in the human brain
Quintana, D. S., Rokicki, J., van der Meer, D., Alnæs, D., Kaufmann, T., Córdova-Palomera, A., Dieset, I., Andreassen, O. A., & Westlye, L. T. (2019) · Nature Communications · doi:10.1038/s41467-019-08503-8 · Cited by 354 · see citing works
Hannon, E., Dempster, E., Viana, J., Burrage, J., Smith, A. R., Macdonald, R., St Clair, D., Mustard, C., Breen, G., Therman, S., et al. (2016) · Genome Biology · doi:10.1186/s13059-016-1041-x · Cited by 349 · see citing works
Self-citationDuplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia
Vacic, V., McCarthy, S., Malhotra, D., Murray, F., Chou, H.-H., Peoples, A., Makarov, V., Yoon, S., Bhandari, A., Corominas, R., et al. (2011) · Nature · doi:10.1038/nature09884 · Cited by 337 · see citing works
De novo rates and selection of large copy number variation
Itsara, A., Wu, H., Smith, J. D., Nickerson, D. A., Romieu, I., London, S. J., & Eichler, E. E. (2010) · Genome Research · doi:10.1101/gr.107680.110 · Cited by 328 · see citing works
Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence
Moreno-De-Luca, A., Myers, S. M., Challman, T. D., Moreno-De-Luca, D., Evans, D. W., & Ledbetter, D. H. (2013) · The Lancet Neurology · doi:10.1016/s1474-4422(13)70011-5 · Cited by 330 · see citing works
Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia
Moreno-De-Luca, D., Mulle, J. G., Kaminsky, E. B., Sanders, S. J., Myers, S. M., Adam, M. P., Pakula, A. T., Eisenhauer, N. J., Uhas, K., Weik, L., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.10.004 · Cited by 324 · see citing works
High frequencies of de novo CNVs in bipolar disorder and schizophrenia
Malhotra, D., McCarthy, S., Michaelson, J. J., Vacic, V., Burdick, K. E., Yoon, S., Cichon, S., Corvin, A., Gary, S., Gershon, E. S., et al. (2011) · Neuron · doi:10.1016/j.neuron.2011.11.007 · Cited by 325 · see citing works
Self-citationGenetic overlap between autism, schizophrenia and bipolar disorder
Carroll, L. S., & Owen, M. J. (2009) · Genome Medicine · doi:10.1186/gm102 · Cited by 326 · see citing works
Dosage-dependent phenotypes in models of 16p11.2 lesions found in autism
Horev, G., Ellegood, J., Lerch, J. P., Son, Y.-E. E., Muthuswamy, L., Vogel, H., Krieger, A. M., Buja, A., Henkelman, R. M., Wigler, M., et al. (2011) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1114042108 · Cited by 330 · see citing works
Genomics, Intellectual Disability, and Autism
Mefford, H. C., Batshaw, M. L., & Hoffman, E. P. (2012) · New England Journal of Medicine · doi:10.1056/nejmra1114194 · Cited by 329 · see citing works
Bussey, T. J., Holmes, A., Lyon, L., Mar, A. C., McAllister, K. A. L., Nithianantharajah, J., Oomen, C. A., & Saksida, L. M. (2012) · Neuropharmacology · doi:10.1016/j.neuropharm.2011.04.011 · Cited by 299 · see citing works
Williams, N. M., Franke, B., Mick, E., Anney, R. J. L., Freitag, C. M., Gill, M., Thapar, A., O'Donovan, M. C., Owen, M. J., Holmans, P., et al. (2012) · American Journal of Psychiatry · doi:10.1176/appi.ajp.2011.11060822 · Cited by 290 · see citing works
Copy number variations of chromosome 16p13.1 region associated with schizophrenia
Ingason, A., Rujescu, D., Cichon, S., Sigurdsson, E., Sigmundsson, T., Pietiläinen, O. P. H., Buizer-Voskamp, J. E., Strengman, E., Francks, C., Muglia, P., et al. (2011) · Molecular Psychiatry · doi:10.1038/mp.2009.101 · Cited by 258 · see citing works
Ben-Shachar, S., Lanpher, B., German, J. R., Qasaymeh, M., Potocki, L., Nagamani, S. C. S., Franco, L. M., Malphrus, A., Bottenfield, G. W., Spence, J. E., et al. (2009) · Journal of Medical Genetics · doi:10.1136/jmg.2008.064378 · Cited by 261 · see citing works
Sebat, J., Levy, D. L., & McCarthy, S. E. (2009) · Trends in Genetics · doi:10.1016/j.tig.2009.10.004 · Cited by 260 · see citing works
Comparative genomics of autism and schizophrenia
Crespi, B., Stead, P., & Elliot, M. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0906080106 · Cited by 262 · see citing works
A High-Resolution Enhancer Atlas of the Developing Telencephalon
Visel, A., Taher, L., Girgis, H., May, D., Golonzhka, O., Hoch, R. V., McKinsey, G. L., Pattabiraman, K., Silberberg, S. N., Blow, M. J., et al. (2013) · Cell · doi:10.1016/j.cell.2012.12.041 · Cited by 257 · see citing works
Synaptic scaffold evolution generated components of vertebrate cognitive complexity
Nithianantharajah, J., Komiyama, N. H., McKechanie, A., Johnstone, M., Blackwood, D. H., Clair, D. S., Emes, R. D., van de Lagemaat, L. N., Saksida, L. M., Bussey, T. J., et al. (2013) · Nature Neuroscience · doi:10.1038/nn.3276 · Cited by 251 · see citing works
Self-citationSingh, T., Walters, J. T. R., Johnstone, M., Curtis, D., Suvisaari, J., Torniainen, M., Rees, E., Iyegbe, C., Blackwood, D., McIntosh, A. M., et al. (2017) · Nature Genetics · doi:10.1038/ng.3903 · Cited by 231 · see citing works
Rare copy number variants are an important cause of epileptic encephalopathies
Mefford, H. C., Yendle, S. C., Hsu, C., Cook, J., Geraghty, E., McMahon, J. M., Eeg‐Olofsson, O., Sadleir, L. G., Gill, D., Ben‐Zeev, B., et al. (2011) · Annals of Neurology · doi:10.1002/ana.22645 · Cited by 247 · see citing works
Talkowski, M. E., Mullegama, S. V., Rosenfeld, J. A., van Bon, B. W. M., Shen, Y., Repnikova, E. A., Gastier-Foster, J., Thrush, D. L., Kathiresan, S., Ruderfer, D. M., et al. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.09.011 · Cited by 249 · see citing works
Self-citationNeurexin 1 (NRXN1) Deletions in Schizophrenia
Kirov, G., Rujescu, D., Ingason, A., Collier, D. A., O'Donovan, M. C., & Owen, M. J. (2009) · Schizophrenia Bulletin · doi:10.1093/schbul/sbp079 · Cited by 235 · see citing works
Yoon, K.-J., Nguyen, H. N., Ursini, G., Zhang, F., Kim, N.-S., Wen, Z., Makri, G., Nauen, D., Shin, J. H., Park, Y., et al. (2014) · Cell Stem Cell · doi:10.1016/j.stem.2014.05.003 · Cited by 240 · see citing works
Doherty, J. L., & Owen, M. J. (2014) · Genome Medicine · doi:10.1186/gm546 · Cited by 228 · see citing works
O'Dushlaine, C., Kenny, E., Heron, E., Donohoe, G., Gill, M., Morris, D., The International Schizophrenia Consortium, & Corvin, A. (2011) · Molecular Psychiatry · doi:10.1038/mp.2010.7 · Cited by 228 · see citing works
Self-citationKendall, K. M., Rees, E., Escott-Price, V., Einon, M., Thomas, R., Hewitt, J., O’Donovan, M. C., Owen, M. J., Walters, J. T. R., & Kirov, G. (2017) · Biological Psychiatry · doi:10.1016/j.biopsych.2016.08.014 · Cited by 226 · see citing works
Self-citationMicrodeletions of 3q29 confer high risk for schizophrenia
Mulle, J. G., Dodd, A. F., McGrath, J. A., Wolyniec, P. S., Mitchell, A. A., Shetty, A. C., Sobreira, N. L., Valle, D., Rudd, M. K., Satten, G., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.07.013 · Cited by 223 · see citing works
Craddock, N., O'Donovan, M. C., & Owen, M. J. (2009) · Schizophrenia Bulletin · doi:10.1093/schbul/sbp020 · Cited by 216 · see citing works
Self-citationA genome-wide association study on common SNPs and rare CNVs in anorexia nervosa
Wang, K., Zhang, H., Bloss, C. S., Duvvuri, V, Kaye, W., Schork, N. J., Berrettini, W., Hakonarson, H., & the Price Foundation Collaborative Group (2011) · Molecular Psychiatry · doi:10.1038/mp.2010.107 · Cited by 212 · see citing works
The genetics of Tourette syndrome: A review
O'Rourke, J. A., Scharf, J. M., Yu, D., & Pauls, D. L. (2009) · Journal of Psychosomatic Research · doi:10.1016/j.jpsychores.2009.06.006 · Cited by 212 · see citing works
Novel Findings from CNVs Implicate Inhibitory and Excitatory Signaling Complexes in Schizophrenia
Pocklington, A. J., Rees, E., Walters, J. T. R., Han, J., Kavanagh, D. H., Chambert, K. D., Holmans, P., Moran, J. L., McCarroll, S. A., Kirov, G., et al. (2015) · Neuron · doi:10.1016/j.neuron.2015.04.022 · Cited by 193 · see citing works
From maps to multi-dimensional network mechanisms of mental disorders
Braun, U., Schaefer, A., Betzel, R. F., Tost, H., Meyer-Lindenberg, A., & Bassett, D. S. (2018) · Neuron · doi:10.1016/j.neuron.2017.11.007 · Cited by 177 · see citing works
Genomic copy number variation, human health, and disease
Wain, L. V., Armour, J. A., & Tobin, M. D. (2009) · The Lancet · doi:10.1016/s0140-6736(09)60249-x · Cited by 196 · see citing works
Grozeva, D. (2010) · Archives of General Psychiatry · doi:10.1001/archgenpsychiatry.2010.25 · Cited by 192 · see citing works
Joint Contributions of Rare Copy Number Variants and Common SNPs to Risk for Schizophrenia
Bergen, S. E., Ploner, A., Howrigan, D., CNV Analysis Group and the Schizophrenia Working Group of the Psychiatric Genomics Consortium, O’Donovan, M. C., Smoller, J. W., Sullivan, P. F., Sebat, J., Neale, B., & Kendler, K. S. (2019) · American Journal of Psychiatry · doi:10.1176/appi.ajp.2018.17040467 · Cited by 171 · see citing works
Genetics of schizophrenia: new findings and challenges
Gejman, P. V., Sanders, A. R., & Kendler, K. S. (2011) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-082410-101459 · Cited by 183 · see citing works
Association of DNA methylation differences with schizophrenia in an Epigenome-Wide association study
Montano, C., Taub, M. A., Jaffe, A., Briem, E., Feinberg, J. I., Trygvadottir, R., Idrizi, A., Runarsson, A., Berndsen, B., Gur, R. C., et al. (2016) · JAMA Psychiatry · doi:10.1001/jamapsychiatry.2016.0144 · Cited by 180 · see citing works
Penetrance for copy number variants associated with schizophrenia
Vassos, E., Collier, D. A., Holden, S., Patch, C., Rujescu, D., St Clair, D., & Lewis, C. M. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq259 · Cited by 182 · see citing works
Piskorowski, R. A., Nasrallah, K., Diamantopoulou, A., Mukai, J., Hassan, S. I., Siegelbaum, S. A., Gogos, J. A., & Chevaleyre, V. (2016) · Neuron · doi:10.1016/j.neuron.2015.11.036 · Cited by 180 · see citing works
Glutamatergic Synaptic Dysregulation in Schizophrenia: Therapeutic Implications
Coyle, J. T., Basu, A., Benneyworth, M., Balu, D., & Konopaske, G. (2012) · Handbook of Experimental Pharmacology · doi:10.1007/978-3-642-25758-2_10 · Cited by 180 · see citing works
- Authors
- The International Schizophrenia Consortium
- Venue
- Nature
- Published
- 2008-07-30
- Volume
- 455
- Issue
- 7210
- Pages
- 237-241
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- PMC
- PMC3912847
- OpenAlex
- W2050161506
- Cited by
- 1,475
- References
- 32
- Citations by year
- 2026: 6 · 2025: 17 · 2024: 28 · 2023: 24 · 2022: 17 · 2021: 54 · 2020: 43 · 2019: 43 · 2018: 49 · 2017: 66 · 2016: 71 · 2015: 97 · 2014: 106 · 2013: 130 · 2012: 169
- FWCI
- 105.32
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Arrow@dit (Dublin Institute of Technology) (submittedVersion, cc-by-nc-sa)
- UCL Discovery (University College London) (submittedVersion)
- Funders
- U.S. Department of Veterans Affairs
- Massachusetts General Hospital
- University of Southern California
- Wellcome Trust (066717)
- Health Research Board
- Broad Institute
- University of Aberdeen
- Science Foundation Ireland
- Trinity College Dublin
- Forskningsrådet för Arbetsliv och Socialvetenskap (2001-2368)
- University of North Carolina at Chapel Hill
- Medical Research Council
- National Health and Medical Research Council
- National Institute of Mental Health (R01MH077139, MH080403, MH071681, P50MH066392, MH074027, R01MH071681, R01MH074027, MH077139, R01MH080403)
- National Human Genome Research Institute (R01HG005827)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Health Sciences › Medicine › Psychiatry and Mental health › Schizophrenia research and treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- schizophrenia, copy number variation, chromosomal deletion, chromosomal duplication, de novo copy number variants, chromosome 1, chromosome 15, 22q11.2 deletion syndrome, genetic risk, genome-wide association study, neurodevelopmental disorders, heritability
- MeSH terms
- Chromosome Deletion, Chromosomes, Human, Humans, Models, Genetic, Schizophrenia, Genome, Human, Case-Control Studies, Sequence Deletion, Gene Dosage, Genetic Predisposition to Disease, Oligonucleotide Array Sequence Analysis, Gene Duplication, Polymorphism, Single Nucleotide
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
