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Large recurrent microdeletions associated with schizophrenia.
Open accessAbstract
Reduced fecundity, associated with severe mental disorders, places negative selection pressure on risk alleles and may explain, in part, why common variants have not been found that confer risk of disorders such as autism, schizophrenia and mental retardation. Thus, rare variants may account for a larger fraction of the overall genetic risk than previously assumed. In contrast to rare single nucleotide mutations, rare copy number variations (CNVs) can be detected using genome-wide single nucleotide polymorphism arrays. This has led to the identification of CNVs associated with mental retardation and autism. In a genome-wide search for CNVs associating with schizophrenia, we used a population-based sample to identify de novo CNVs by analysing 9,878 transmissions from parents to offspring. The 66 de novo CNVs identified were tested for association in a sample of 1,433 schizophrenia cases and 33,250 controls. Three deletions at 1q21.1, 15q11.2 and 15q13.3 showing nominal association with schizophrenia in the first sample (phase I) were followed up in a second sample of 3,285 cases and 7,951 controls (phase II). All three deletions significantly associate with schizophrenia and related psychoses in the combined sample. The identification of these rare, recurrent risk variants, having occurred independently in multiple founders and being subject to negative selection, is important in itself. CNV analysis may also point the way to the identification of additional and more prevalent risk variants in genes and pathways involved in schizophrenia.
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In the citing paper
“Deletion of 15q11.2(BP1–BP2) leads to a two to fourfold increase in the risk for schizophrenia, autism and intellectual disability [1–5].”
From Linking haploinsufficiency of the autism- and schizophrenia-associated gene Cyfip1 with striatal-limbic-cortical network dysfunction and cognitive inflexibility (2024) · cites this paper as [1]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“a review of reported data from control cohorts (n = 66,462 subjects) summarized to date show that about 0.25% of controls are found with the 15q11.2 BP1–BP2 microdeletion [18,27,28,29,30,31].”
From The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review (2015) · cites this paper as [31]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“Copy number variation (CNV) at the 15q11.2 region has been identified as a significant risk locus for neurological and neuropsychiatric conditions such as schizophrenia (SCZ) and autism spectrum disorder (ASD).”
From The autism and schizophrenia associated gene CYFIP1 is critical for the maintenance of dendritic complexity and the stabilization of mature spines (2014) · cites this paper as [5]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“Copy number variation of one gene within 15q11.2, coding for the cytoplasmic FMRP-interacting protein 1 (CYFIP1), has been linked to both ASD and SCZ.5,8,9”
From The autism and schizophrenia associated gene CYFIP1 is critical for the maintenance of dendritic complexity and the stabilization of mature spines (2014) · cites this paper as [5]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“Altered levels of CYFIP1 are associated with several neurological disorders including SCZ and ASD.4,5,10”
From The autism and schizophrenia associated gene CYFIP1 is critical for the maintenance of dendritic complexity and the stabilization of mature spines (2014) · cites this paper as [5]
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In the citing paper
“The BP1-BP2 deletion is associated with phenotypic variability and has been reported in individuals with neurodevelopmental disorders [20], schizophrenia [53], [60], ASD [44]–[46], [49], and epilepsy [61].”
From Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders (2012) · cites this paper as [53]
In the citing paper
“However, the most compelling candidate in the deleted region is CYFIP1 [45], [53], which codes for a binding partner of FMRP, the protein responsible for fragile X syndrome.”
From Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders (2012) · cites this paper as [53]
In the citing paper
“Notably, inherited CNVs detected in this study included variants at loci that have been previously linked to schizophrenia (International Schizophrenia Consortium, 2008 and Stefansson et al., 2008), including a duplication at 1q21.1 in a subject with bipolar disorder and a duplication and a deletion at 15q13.3 detected in subjects with bipolar disorder and schizophrenia, respectively (Document S2,”
From High frequencies of de novo CNVs in bipolar disorder and schizophrenia (2011) · cites this paper as Stefansson et al., 2008
In the citing paper
“Notably, the median size of SD and non-SD-mediated de novo CNVs was 722 kb and 67 kb respectively, consistent with previous studies that have found differences in CNV size related to the underlying mutational mechanism (Itsara et al., 2010 and Stefansson et al., 2008).”
From High frequencies of de novo CNVs in bipolar disorder and schizophrenia (2011) · cites this paper as Stefansson et al., 2008
In the citing paper
“SVs have already been associated with diverse diseases, including autism2,3, schizophrenia4,5 and Crohn’s disease6,7.”
From Mapping copy number variation by population-scale genome sequencing (2011) · cites this paper as [4]
In the citing paper
“Accordingly, such CNVs must frequently occur as recurrent de novo mutations.”
From De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia (2012) · cites this paper as [7]
In the citing paper
“several individual CNV loci have been strongly implicated as risk factors for schizophrenia with high degrees of statistical confidence. These include deletions at 1q21.1, NRXN1, 3q29, 15q11.2, 15q13.3, 22q11.2 and duplications at VIPR2, 16p11.2, 16p13.1 and 15q11-q13.2, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13”
From De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia (2012) · cites this paper as [7]
In the citing paper
“those that occur in multiple unrelated individuals are likely to do so through independent de novo mutations.7, 22, 23, 24”
From De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia (2012) · cites this paper as [7]
In the citing paper
“Although there is strong published evidence for deletions at this locus being relevant to schizophrenia,3, 7”
From De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia (2012) · cites this paper as [7]
In the citing paper
“(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 [7]
In the citing paper
“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 [19]
In the citing paper
“Five percent of cases of schizophrenia and of autism have each been attributed to CNVs at fewer than a half dozen genomic locations46–48.”
From Rare and common variants: twenty arguments (2012) · cites this paper as [46]
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Citations
Cites
Hastie, T., & Tibshirani, R. (1986) · Statistical Science · doi:10.1214/ss/1177013604 · Cited by 12,575
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
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
Self-citationRare chromosomal deletions and duplications increase risk of schizophrenia
The International Schizophrenia Consortium (2008) · Nature · doi:10.1038/nature07239 · Cited by 1,475
Generalized additive models for medical research
Hastie, T. J., & Tibshirani, R. J. (1995) · Statistical Methods in Medical Research · doi:10.1177/096228029500400302 · Cited by 1,275
Disruption of two novel genes by a translocation co-segregating with schizophrenia
Millar, J. K. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.9.1415 · Cited by 1,254
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
Lee, J. A., Carvalho, C. M. B., & Lupski, J. R. (2007) · Cell · doi:10.1016/j.cell.2007.11.037 · Cited by 914
A high-resolution survey of deletion polymorphism in the human genome
Conrad, D. F., Andrews, T. D., Carter, N. P., Hurles, M. E., & Pritchard, J. K. (2005) · Nature Genetics · doi:10.1038/ng1697 · Cited by 672
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
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Items 401–500 of 1,002
Detection and Characterization of Copy Number Variation in Autism Spectrum Disorder
Marshall, C. R., & Scherer, S. W. (2011) · Methods in molecular biology · doi:10.1007/978-1-61779-507-7_5 · Cited by 90
Contemplating effects of genomic structural variation
Buchanan, J. A., & Scherer, S. W. (2008) · Genetics in Medicine · doi:10.1097/gim.0b013e318183f848 · Cited by 90
A genomic point-of-view on environmental factors influencing the human brain methylome
LaSalle, J. M. (2011) · Epigenetics · doi:10.4161/epi.6.7.16353 · Cited by 89
Sinkus, M. L., Lee, M. J., Gault, J., Logel, J., Short, M., Freedman, R., Christian, S. L., Lyon, J., & Leonard, S. S. (2009) · Brain Research · doi:10.1016/j.brainres.2009.07.041 · Cited by 89
Rodríguez-Santiago, B., Brunet, A., Sobrino, B., Serra-Juhé, C., Flores, R., Armengol, L., Vilella, E., Gabau, E., Guitart, M., Guillamat, R., et al. (2010) · Molecular Psychiatry · doi:10.1038/mp.2009.53 · Cited by 88
Ohnologs are overrepresented in pathogenic copy number mutations
McLysaght, A., Makino, T., Grayton, H. M., Tropeano, M., Mitchell, K. J., Vassos, E., & Collier, D. A. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1309324111 · Cited by 88
Self-citationAn overview of medical risk factors for childhood psychosis: Implications for research and treatment
Giannitelli, M., Consoli, A., Raffin, M., Jardri, R., Levinson, D. F., Cohen, D., & Laurent‐Levinson, C. (2017) · Schizophrenia Research · doi:10.1016/j.schres.2017.05.011 · Cited by 88
Regulation and Function of Activity-Dependent Homer in Synaptic Plasticity
Clifton, N. E., Trent, S., Thomas, K. L., & Hall, J. (2019) · Complex Psychiatry · doi:10.1159/000500267 · Cited by 88
Concise Review: The Promise of Human Induced Pluripotent Stem Cell-Based Studies of Schizophrenia
Brennand, K., & Gage, F. H. (2011) · Stem Cells · doi:10.1002/stem.762 · Cited by 87
The integrated landscape of causal genes and pathways in schizophrenia
Ma, C., Gu, C., Huo, Y., Li, X., & Luo, X. (2018) · Translational Psychiatry · doi:10.1038/s41398-018-0114-x · Cited by 87
Writing Committee for the ENIGMA-CNV Working Group, van der Meer, D., Sønderby, I. E., Kaufmann, T., Walters, G. B., Abdellaoui, A., Ames, D., Amunts, K., Andersson, M., Armstrong, N. J., et al. (2020) · JAMA Psychiatry · doi:10.1001/jamapsychiatry.2019.3779 · Cited by 87
Self-citationCubells, J. F., DeOreo, E. H., Harvey, P. D., Garlow, S. J., Garber, K. B., Adam, M. P., & Martin, C. L. (2011) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33917 · Cited by 87
Hypoxia drives transient site-specific copy gain and drug-resistant gene expressionPreprint
Black, J. C., Atabakhsh, E., Kim, J., Biette, K. M., Rechem, C. V., Ladd, B., Burrowes, P. D., Donado, C. A., Mattoo, H., Kleinstiver, B. P., et al. (2015) · Genes & Development · doi:10.1101/gad.259796.115 · Cited by 87
Schumacher, J., Laje, G., Jamra, R. A., Becker, T., Mühleisen, T. W., Vasilescu, C., Mattheisen, M., Herms, S., Hoffmann, P., Hillmer, A. M., et al. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp204 · Cited by 86
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von der Lippe, C., Rustad, C., Heimdal, K., & Rødningen, O. K. (2011) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2010.12.008 · Cited by 86
Microdeletion and Microduplication Syndromes
Vissers, L. E. L. M., & Stankiewicz, P. (2011) · Methods in molecular biology · doi:10.1007/978-1-61779-507-7_2 · Cited by 86
New Copy Number Variations in Schizophrenia
Magri, C., Sacchetti, E., Traversa, M., Valsecchi, P., Gardella, R., Bonvicini, C., Minelli, A., Gennarelli, M., & Barlati, S. (2010) · PLoS ONE · doi:10.1371/journal.pone.0013422 · Cited by 86
The Hypocretin/Orexin System: An Increasingly Important Role in Neuropsychiatry
Chen, Q., de Lecea, L., Hu, Z., & Gao, D. (2014) · Medicinal Research Reviews · doi:10.1002/med.21326 · Cited by 86
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Arguello, P. A., & Gogos, J. A. (2009) · Schizophrenia Bulletin · doi:10.1093/schbul/sbp153 · Cited by 86
Loe-Mie, Y., Lepagnol-Bestel, A.-M., Maussion, G., Doron‐Faigenboim, A., Imbeaud, S., Delacroix, H., Aggerbeck, L. P., Pupko, T., Gorwood, P. A. P. M., Simonneau, M., et al. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq184 · Cited by 86
Ionita‐Laza, I., Xu, B., Makarov, V., Buxbaum, J. D., Roos, J. L., Gogos, J. A., & Karayiorgou, M. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1309475110 · Cited by 85
Skaar, D. A., Li, Y., Bernal, A., Hoyo, C., Murphy, S. K., & Jirtle, R. L. (2012) · ILAR Journal · doi:10.1093/ilar.53.3-4.341 · Cited by 85
Schizophrenia: The drug deadlock
Abbott, A. (2010) · Nature · doi:10.1038/468158a · Cited by 85
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
Priebe, L., Degenhardt, F. A., Herms, S., Haenisch, B., Mattheisen, M., Nieratschker, V, Weingarten, M., Witt, S., Breuer, R., Paul, T., et al. (2012) · Molecular Psychiatry · doi:10.1038/mp.2011.8 · Cited by 84
Self-citationWilleit, M., & Praschak-Rieder, N. (2010) · NeuroImage · doi:10.1016/j.neuroimage.2010.04.030 · Cited by 84
Saus, E., Brunet‐Vega, A., Armengol, L., Alonso, P., Crespo, J. M., Fernández‐Aranda, F., Guitart, M., Martín‐Santos, R., Menchón, J. M., Navinés, R., et al. (2010) · Journal of Psychiatric Research · doi:10.1016/j.jpsychires.2010.03.007 · Cited by 84
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Avramopoulos, D. (2018) · Complex Psychiatry · doi:10.1159/000488679 · Cited by 84
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Tai, D. J. C., Ragavendran, A., Manavalan, P., Stortchevoi, A., Seabra, C. M., Erdin, S., Collins, R. L., Blumenthal, I., Chen, X., Shen, Y., et al. (2016) · Nature Neuroscience · doi:10.1038/nn.4235 · Cited by 84
Grozeva, D., Conrad, D. F., Barnes, C. P., Hurles, M. E., Owen, M. J., O’Donovan, M. C., Craddock, N. J., & Kirov, G. (2011) · Schizophrenia Research · doi:10.1016/j.schres.2011.11.004 · Cited by 83
Gervasini, G., Benítez, J., & Carrillo, J. A. (2010) · European Journal of Clinical Pharmacology · doi:10.1007/s00228-010-0857-7 · Cited by 83
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Vorstman, J. A. S., & Ophoff, R. A. (2013) · Current Opinion in Neurology · doi:10.1097/wco.0b013e32835f1a30 · Cited by 83
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Jalbrzikowski, M., Carter, C., Şentürk, D., Chow, C. C., Hopkins, J. M., Green, M. F., Galván, A., Cannon, T. D., & Bearden, C. E. (2012) · Schizophrenia Research · doi:10.1016/j.schres.2012.10.007 · Cited by 83
Mowry, B. J., & Gratten, J. (2012) · Molecular Psychiatry · doi:10.1038/mp.2012.34 · Cited by 82
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Weiss, L. A. (2009) · Expert Review of Molecular Diagnostics · doi:10.1586/erm.09.59 · Cited by 82
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GREENSTEIN, D. K., Malley, J. D., Weisinger, B., CLASEN, L. S., & Gogtay, N. (2012) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2012.00053 · Cited by 82
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Mitchell, K. J., & Porteous, D. J. (2010) · Psychological Medicine · doi:10.1017/s003329171000070x · Cited by 82
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Coe, B. P., Girirajan, S., & Eichler, E. E. (2012) · Current Opinion in Neurobiology · doi:10.1016/j.conb.2012.04.007 · Cited by 81
Expression of autism spectrum and schizophrenia in patients with a 22q11.2 deletion
Vorstman, J. A. S., Breetvelt, E., Thode, K. I., Chow, E. W. C., & Bassett, A. S. (2012) · Schizophrenia Research · doi:10.1016/j.schres.2012.10.010 · Cited by 81
Schulze, T. G. (2010) · Psychiatric Clinics of North America · doi:10.1016/j.psc.2009.10.005 · Cited by 80
Schizophrenia genetics: advancing on two fronts
Owen, M. J., Williams, H. J., & O’Donovan, M. C. (2009) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2009.02.008 · Cited by 80
Cappi, C., Hounie, A. G., Mariani, D., Diniz, J. B., Silva, A. R. T., Reis, V. N. D. S., Busso-Lopes, A. F., Silva, A. G., Fidalgo, F., Rogatto, S. R., et al. (2014) · PLoS ONE · doi:10.1371/journal.pone.0110198 · Cited by 80
Morgan, V. A., Croft, M. L., Valuri, G. M., Zubrick, S. R., Bower, C. I., McNeil, T. F., & Jablensky, A. V. (2012) · The British Journal of Psychiatry · doi:10.1192/bjp.bp.111.093070 · Cited by 80
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Lang, B., Pu, J., Hunter, I., Liu, M., Martín‐Granados, C., Reilly, T. J., Gao, G., Guan, Z., Li, W., Shi, Y., et al. (2013) · Journal of Cell Science · doi:10.1242/jcs.137604 · Cited by 78
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van Winkel, R., Esquivel, G., Kenis, G., Wichers, M., Collip, D., Peerbooms, O., Rutten, B. P. F., Myin‐Germeys, I., & van Os, J. (2010) · CNS Neuroscience & Therapeutics · doi:10.1111/j.1755-5949.2010.00155.x · Cited by 76
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Zeng, L., Zhang, P., Shi, L., Yamamoto, V. N., Lu, W., & Wang, K. (2013) · PLoS ONE · doi:10.1371/journal.pone.0059685 · Cited by 76
Leboyer, M., Tamouza, R., Charron, D. J., Faucard, R., & Perron, H. (2011) · The World Journal of Biological Psychiatry · doi:10.3109/15622975.2010.601760 · Cited by 76
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Stoeber, G., Ben‐Shachar, D., Cardon, M., Falkai, P., Fonteh, A. N., Gawlik, M., Glenthoj, B. Y., Grünblatt, E., Jablensky, A. V., Kim, Y., et al. (2009) · The World Journal of Biological Psychiatry · doi:10.1080/15622970902898980 · Cited by 76
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Mullé, J. G., Pulver, A. E., McGrath, J. A., Wolyniec, P. S., Dodd, A., Cutler, D. J., Sebat, J. L., Malhotra, D., Nestadt, G., Conrad, D. F., et al. (2013) · Biological Psychiatry · doi:10.1016/j.biopsych.2013.05.040 · Cited by 75
Zhao, J., & Grant, S. F. A. (2011) · Journal of Obesity · doi:10.1155/2011/845148 · Cited by 75
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Pato, M. T., Sobell, J. L., Medeiros, H., Abbott, C., Sklar, B. M., Buckley, P. F., Bromet, E. J., Escamilla, M., Fanous, A. H., Lehrer, D. S., et al. (2013) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32160 · Cited by 75
Genome-Wide Association Study of Schizophrenia in Japanese Population
Yamada, K., Iwayama, Y., Hattori, E., Iwamoto, K., Toyota, T., Ohnishi, T., Ohba, H., Maekawa, M., Kato, T., & Yoshikawa, T. (2011) · PLoS ONE · doi:10.1371/journal.pone.0020468 · Cited by 74
McMullan, D. J., von Bonin, M., Hehir‐Kwa, J. Y., Vries, B. B. A. D., Dufke, A., Rattenberry, E., Steehouwer, M., Moruz, L., Pfundt, R., de Leeuw, N., et al. (2009) · Human Mutation · doi:10.1002/humu.21015 · Cited by 74
Beating the boojum: Comparative approaches to the neurobiology of social behavior
Phelps, S. M., Polly Campbell, A., Zheng, D., & Ophir, A. G. (2009) · Neuropharmacology · doi:10.1016/j.neuropharm.2009.06.043 · Cited by 73
Alpha7 neuronal nicotinic receptors as a drug target in schizophrenia
Wallace, T. L., & Bertrand, D. (2012) · Expert Opinion on Therapeutic Targets · doi:10.1517/14728222.2013.736498 · Cited by 73
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Mullin, A. P., Gokhale, A., Larimore, J. L., & Faúndez, V. (2011) · Molecular Neurobiology · doi:10.1007/s12035-011-8183-3 · Cited by 73
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Hajós, M., & Rogers, B. N. (2010) · Current Pharmaceutical Design · doi:10.2174/138161210790361434 · Cited by 73
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Egolf, L. E., Randall, M. P., Bosse, K. R., & Diskin, S. J. (2018) · Cell and Tissue Research · doi:10.1007/s00441-018-2820-3 · Cited by 73
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Li, Z., Chen, J., Xu, Y., Yi, Q., Ji, W., Wang, P., Shen, J., Song, Z., Wang, M., Yang, P., et al. (2016) · Biological Psychiatry · doi:10.1016/j.biopsych.2015.11.012 · Cited by 72
O’Donovan, M. C., Norton, N., Williams, H. J., Peirce, T., Moskvina, V., Nikolov, I., Hamshere, M. L., Carroll, L. S., Georgieva, L., Dwyer, S., et al. (2008) · Molecular Psychiatry · doi:10.1038/mp.2008.108 · Cited by 72
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Poot, M., van der Smagt, J. J., Brilstra, E. H., & Bourgeron, T. (2011) · Cytogenetic and Genome Research · doi:10.1159/000334064 · Cited by 71
Bassett, A. S., & Costain, G. (2012) · The Application of Clinical Genetics · doi:10.2147/tacg.s21953 · Cited by 71
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Williams, H. J., Owen, M. J., & O’Donovan, M. C. (2009) · British Medical Bulletin · doi:10.1093/bmb/ldp017 · Cited by 71
Hashemi, B., Bassett, A. S., Chitayat, D. A., Chong, K., Feldman, M., Flanagan, J., Goobie, S. L., Kawamura, A. A., Lowther, C., Prasad, C., et al. (2015) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.37134 · Cited by 70
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Perron, H., Bernard, C., Bertrand, J., Lang, A. B., Popa, I., Sanhadji, K., & Portoukalian, J. (2009) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2009.04.034 · Cited by 70
Winterer, G., Gallinat, J., Brinkmeyer, J., Musso, F., Kornhuber, J., Thuerauf, N., Rujescu, D., Favis, R., Sun, Y., Franc, M. A., et al. (2012) · Neuropharmacology · doi:10.1016/j.neuropharm.2012.06.040 · Cited by 70
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Vyas, N. S., Patel, N., & Puri, B. K. (2011) · Early Intervention in Psychiatry · doi:10.1111/j.1751-7893.2010.00253.x · Cited by 70
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Crespi, B. J., & Crofts, H. (2012) · Journal of Neurodevelopmental Disorders · doi:10.1186/1866-1955-4-15 · Cited by 69
Holmans, P., Riley, B. P., Pulver, A. E., Owen, M. J., Wildenauer, D. B., Gejman, P. V., Mowry, B. J., Laurent‐Levinson, C., Kendler, K. S., Nestadt, G., et al. (2009) · Molecular Psychiatry · doi:10.1038/mp.2009.11 · Cited by 69
Noh, H. J., Tang, R., Flannick, J. A., O'Dushlaine, C. T., Swofford, R., Howrigan, D. P., Genereux, D. P., Johnson, J., van Grootheest, G., Grünblatt, E., et al. (2017) · Nature Communications · doi:10.1038/s41467-017-00831-x · Cited by 69
Buizer-Voskamp, J. E., Muntjewerff, J.-W., Strengman, E., Sabatti, C., Stefansson, H., Vorstman, J. A. S., & Ophoff, R. A. (2011) · Biological Psychiatry · doi:10.1016/j.biopsych.2011.02.015 · Cited by 68
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Lin, Y., & Gökçümen, Ö. (2019) · Genome Biology and Evolution · doi:10.1093/gbe/evz058 · Cited by 68
Stewart, L. R., Hall, A. L., Kang, S.-H. L., Shaw, C. A., & Beaudet, A. L. (2011) · BMC Medical Genetics · doi:10.1186/1471-2350-12-154 · Cited by 67
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Marenne, G., Rodríguez‐Santiago, B., García‐Closas, M., Jurado, L. A. P., Rothman, N., Rico, D., Pita, G., Pisano, D. G., Kogevinas, M., Silverman, D. T., et al. (2010) · Human Mutation · doi:10.1002/humu.21398 · Cited by 67
Metadata
- Authors
- GROUP, Stefansson, H., Rujescu, D., Cichon, S., Pietiläinen, O. P. H., Ingason, A., Steinberg, S., Fossdal, R., Sigurdsson, E., Sigmundsson, T., Buizer-Voskamp, J. E., Hansen, T., Jakobsen, K. D., Muglia, P., Francks, C., Matthews, P. M., Gylfason, A., Halldorsson, B. V., Gudbjartsson, D., Thorgeirsson, T. E., Sigurdsson, A., Jonasdottir, A., Jonasdottir, A., Bjornsson, A., Mattiasdottir, S., Blondal, T., Haraldsson, M., Magnusdottir, B. B., Giegling, I., Möller, H.-J., Hartmann, A., Shianna, K. V., Ge, D., Need, A. C., Crombie, C., Fraser, G., Walker, N., Lonnqvist, J., Suvisaari, J., Tuulio-Henriksson, A., Paunio, T., Toulopoulou, T., Bramon, E., Di Forti, M., Murray, R., Ruggeri, M., Vassos, E., Tosato, S., Walshe, M., Li, T., Vasilescu, C., Mühleisen, T. W., Wang, A. G., Ullum, H., Djurovic, S., Melle, I., Olesen, J., Kiemeney, L. A., Franke, B., Sabatti, C., Freimer, N. B., Gulcher, J. R., Thorsteinsdottir, U., Kong, A., Andreassen, O. A., Ophoff, R. A., Georgi, A., Rietschel, M., Werge, T., Petursson, H., Goldstein, D. B., Nöthen, M. M., Peltonen, L., Collier, D. A., St Clair, D., & Stefansson, K.
- Affiliations
- deCODE Genetics (Iceland) (IS)
- University of Bonn (DE)
- University Medical Center Utrecht (NL)
- University of Copenhagen (DK)
- GlaxoSmithKline (Italy) (IT)
- GlaxoSmithKline (United Kingdom) (GB)
- National University Hospital of Iceland (IS)
- Ludwig-Maximilians-Universität München (DE)
- Duke University (US)
- University of Aberdeen (GB)
- King's College London (GB)
- University of Verona (IT)
- Amager Hospital (DK)
- University of Oslo (NO)
- Glostrup Hospital (DK)
- Radboud University Medical Center (NL)
- University of California, Los Angeles (US)
- Heidelberg University (DE)
- Sankt Hans Hospital (DK)
- Broad Institute (US)
- ORCID
- Rujescu, Dan
- Cichon, Sven
- Pietiläinen, Olli P. H.
- Steinberg, Stacy
- Hansen, Thomas
- Muglia, Pierandrea
- Francks, Clyde
- Matthews, Paul M.
- Gylfason, Arnaldur
- Gudbjartsson, Daniel
- Thorgeirsson, Thorgeir E.
- Haraldsson, Magnus
- Giegling, Ina
- Möller, Hans-Jürgen
- Hartmann, Annette
- Ge, Dongliang
- Need, Anna C.
- Suvisaari, Jaana
- Paunio, Tiina
- Bramon, Elvira
- Murray, Robin
- Ruggeri, Mirella
- Vassos, Evangelos
- Tosato, Sarah
- Walshe, Muriel
- Li, Tao
- Mühleisen, Thomas W.
- Wang, August G.
- Ullum, Henrik
- Djurovic, Srdjan
- Melle, Ingrid
- Olesen, Jes
- Kiemeney, Lambertus A.
- Franke, Barbara
- Sabatti, Chiara
- Freimer, Nelson B.
- Kong, Augustine
- Andreassen, Ole A.
- Ophoff, Roel A.
- Georgi, Alexander
- Rietschel, Marcella
- Werge, Thomas
- Goldstein, David B.
- Nöthen, Markus M.
- Peltonen, Leena
- Collier, David A.
- Venue
- Nature
- Published
- 2008-09
- Volume
- 455
- Issue
- 7210
- Pages
- 232-236
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- PMC
- PMC2687075
- OpenAlex
- W1997031801
- Cited by
- 1,745
- References
- 32
- Citations by year
- 2026: 11 · 2025: 21 · 2024: 28 · 2023: 32 · 2022: 34 · 2021: 51 · 2020: 41 · 2019: 62 · 2018: 61 · 2017: 62 · 2016: 80 · 2015: 118 · 2014: 115 · 2013: 159 · 2012: 173
- FWCI
- 130.32
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature (publishedVersion)
- PubMed (publishedVersion)
- Pure Amsterdam UMC (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- MPG.PuRe (Max Planck Society) (submittedVersion, other-oa)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- RePEc: Research Papers in Economics (submittedVersion)
- UCL Discovery (University College London) (submittedVersion)
- The HKU Scholars Hub (University of Hong Kong) (submittedVersion)
- Research Portal (King's College London) (submittedVersion)
- Lirias (submittedVersion)
- Research at the University of Copenhagen (University of Copenhagen) (submittedVersion)
- Radboud Repository (Radboud University) (submittedVersion)
- Hirsla (Landspítali University Hospital) (submittedVersion)
- Funders
- Wellcome Trust (089061)
- National Institute for Health and Care Research (PDA/02/06/016)
- Bundesministerium für Bildung und Forschung
- Alfried Krupp von Bohlen und Halbach-Stiftung
- National Institute of Mental Health (R01MH071425, R01MH078075, R01MH71425-01A1)
- 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, de novo copy number variants, 1q21.1, 15q11.2, 15q13.3, chromosome 1, chromosome 15, rare variants, negative selection, fecundity, psychosis, genetic association, founder effect
- MeSH terms
- China, Chromosomes, Human, Pair 1, Chromosomes, Human, Pair 15, Europe, Genotype, Humans, Models, Genetic, Psychotic Disorders, Schizophrenia, Genome, Human, Sequence Deletion, Gene Dosage, Loss of Heterozygosity, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide
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