Copy number variations of chromosome 16p13.1 region associated with schizophrenia
Open accessAbstract
Deletions and reciprocal duplications of the chromosome 16p13.1 region have recently been reported in several cases of autism and mental retardation (MR). As genomic copy number variants found in these two disorders may also associate with schizophrenia, we examined 4345 schizophrenia patients and 35,079 controls from 8 European populations for duplications and deletions at the 16p13.1 locus, using microarray data. We found a threefold excess of duplications and deletions in schizophrenia cases compared with controls, with duplications present in 0.30% of cases versus 0.09% of controls (P=0.007) and deletions in 0.12 % of cases and 0.04% of controls (P>0.05). The region can be divided into three intervals defined by flanking low copy repeats. Duplications spanning intervals I and II showed the most significant (P = 0.00010) association with schizophrenia. The age of onset in duplication and deletion carriers among cases ranged from 12 to 35 years, and the majority were males with a family history of psychiatric disorders. In a single Icelandic family, a duplication spanning intervals I and II was present in two cases of schizophrenia, and individual cases of alcoholism, attention deficit hyperactivity disorder and dyslexia. Candidate genes in the region include NTAN1 and NDE1. We conclude that duplications and perhaps also deletions of chromosome 16p13.1, previously reported to be associated with autism and MR, also confer risk of schizophrenia.
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?
Several individual CNV loci have been strongly implicated as risk factors for schizophrenia.
“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 [10]
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
Strong 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
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
Self-citationAssociation 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-citationRare chromosomal deletions and duplications increase risk of schizophrenia
The International Schizophrenia Consortium (2008) · Nature · doi:10.1038/nature07239 · Cited by 1,475 · see citing works
Fine-scale structural variation of the human genome
Tüzün, E., Sharp, A. J., Bailey, J. A., Kaul, R., Morrison, V., Pertz, L. M., Haugen, E., Hayden, H. S., Albertson, D. G., Pinkel, D., et al. (2005) · Nature Genetics · doi:10.1038/ng1562 · Cited by 991 · see citing works
Strong association of de novo copy number mutations with sporadic schizophrenia
Xu, B., Roos, J. L., Levy, S., van Rensburg, E. J., Gogos, J. A., & Karayiorgou, M. (2008) · Nature Genetics · doi:10.1038/ng.162 · Cited by 813 · 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
Association within a family of a balanced autosomal translocation with major mental illness
St Clair, D., Blackwood, D., Muir, W., Walker, M., St Clair, D., Muir, W., Carothers, A., Spowart, G., Gosden, C., & Evans, H. J. (1990) · The Lancet · doi:10.1016/0140-6736(90)91520-k · Cited by 727 · 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
Colella, S., Yau, C., Taylor, J. M., Mirza, G., Butler, H., Clouston, P., Bassett, A. S., Seller, A., Holmes, C. C., & Ragoussis, J. (2007) · Nucleic Acids Research · doi:10.1093/nar/gkm076 · Cited by 616 · see citing works
A schizophrenia-associated mutation of DISC1 perturbs cerebral cortex development
Kamiya, A., Kubo, K., Tomoda, T., Takaki, M., Youn, R., Ozeki, Y., Sawamura, N., Park, U., Kudo, C., Okawa, M., et al. (2005) · Nature Cell Biology · doi:10.1038/ncb1328 · Cited by 531 · see citing works
Shaw, C. A. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddh073 · Cited by 493 · see citing works
A Genome-Wide Investigation of SNPs and CNVs in Schizophrenia
Need, A. C., Ge, D., Weale, M. E., Maia, J. M., Feng, S., Heinzen, E. L., Shianna, K. V., Yoon, W., Kasperavičiūtė, D., Gennarelli, M., et al. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000373 · Cited by 443 · see citing works
Self-citationSupport 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
Hannes, F., Sharp, A. J., Mefford, H. C., de Ravel, T. J. L., Ruivenkamp, C. A. L., Breuning, M. H., Fryns, J., Devriendt, K., Buggenhout, G. V., Vogels, A., et al. (2008) · Journal of Medical Genetics · doi:10.1136/jmg.2007.055202 · Cited by 344 · see citing works
A unified genetic theory for sporadic and inherited autism
Zhao, X., Leotta, A., Kustanovich, V., Lajonchere, C., Geschwind, D. H., Law, K., Law, P., Qiu, S., Lord, C., Sebat, J., et al. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0705803104 · Cited by 319 · see citing works
Mazer, C., Muneyyirci, J., Taheny, K., Raio, N., Borella, A., & Whitaker‐Azmitia, P. M. (1997) · Brain Research · doi:10.1016/s0006-8993(97)00297-7 · Cited by 287 · see citing works
Ullmann, R., TURNER, G. M., Kirchhoff, M., Chen, W., Tonge, B. J., Rosenberg, C., Field, M., Vianna‐Morgante, A. M., Christie, L., Krepischi, A. C. V., et al. (2007) · Human Mutation · doi:10.1002/humu.20546 · Cited by 287 · see citing works
Recurrent CNVs Disrupt Three Candidate Genes in Schizophrenia Patients
Vrijenhoek, T., Buizer‐Voskamp, J. E., van der Stelt, I., Strengman, E., Sabatti, C., van Kessel, A. G., Brunner, H. G., Ophoff, R. A., & Veltman, J. A. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.09.011 · Cited by 265 · see citing works
Self-citationAnterior cingulate cortex pathology in schizophrenia and bipolar disorder
Bouras, C., Kövari, E., Hof, P. R., Riederer, B. M., & Giannakopoulos, P. (2001) · Acta Neuropathologica · doi:10.1007/s004010100392 · Cited by 208 · see citing works
Zhang, J., Feuk, L., Duggan, G. E., Khaja, R., & Scherer, S. W. (2006) · Cytogenetic and Genome Research · doi:10.1159/000095916 · Cited by 204 · see citing works
Replication of 1q42 linkage in Finnish schizophrenia pedigrees
Ekelund, J., Hennah, W., Hiekkalinna, T., Parker, A. N., Meyer, J. M., Lönnqvist, J. K., & Peltonen, L. (2004) · Molecular Psychiatry · doi:10.1038/sj.mp.4001536 · Cited by 187 · see citing works
Self-citationMcInnes, L. A., Escamilla, M., Service, S. K., Reus, V. I., Leon, P. E., da Silva, S. R. A., Rojas, E., Spesny, M., Baharloo, S., Blankenship, K., et al. (1996) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.93.23.13060 · Cited by 167 · see citing works
Cytokine effects on cortical neuron MAP-2 immunoreactivity: implications for schizophrenia
Marx, C. E., Jarskog, L. F., Lauder, J. M., Lieberman, J. A., & Gilmore, J. H. (2001) · Biological Psychiatry · doi:10.1016/s0006-3223(01)01209-4 · Cited by 134 · see citing works
Ewald, H., Flint, T. J., Kruse, T. A., & Mors, O. N. (2002) · Molecular Psychiatry · doi:10.1038/sj.mp.4001074 · Cited by 124 · see citing works
Genetics of Recurrent Early-Onset Major Depression (GenRED): Final Genome Scan Report
Holmans, P., Weissman, M. M., Zubenko, G. S., Scheftner, W. A., Crowe, R., DePaulo, J. R., Knowles, J. A., Zubenko, W. N., Murphy-Eberenz, K. P., Marta, D. H., et al. (2007) · American Journal of Psychiatry · doi:10.1176/ajp.2007.164.2.248 · Cited by 112 · see citing works
Burdick, K. E., Kamiya, A., Hodgkinson, C. A., Lencz, T., DeRosse, P., Ishizuka, K., Elashvili, S., Arai, H., Goldman, D. A., Sawa, A., et al. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddn146 · Cited by 110 · see citing works
Kwon, Y. T., Balogh, S. A., Davydov, I. V., Kashina, A. S., Yoon, J. K., Xie, Y., Gaur, A. B., Hyde, L. A., Denenberg, V. H., & Varshavsky, A. J. (2000) · Molecular and Cellular Biology · doi:10.1128/mcb.20.11.4135-4148.2000 · Cited by 108 · see citing works
Psychosis proneness and ADHD in young relatives of schizophrenia patients
Keshavan, M. S., Sujata, M., Mehra, A., Montrose, D. M., & Sweeney, J. A. (2002) · Schizophrenia Research · doi:10.1016/s0920-9964(01)00400-5 · Cited by 103 · see citing works
Bipolar Affective Puerperal Psychosis: Genome-Wide Significant Evidence for Linkage to Chromosome 16
Jones, I. D., Hamshere, M., Nangle, J.-M., Bennett, P., Green, E., Heron, J., Segurado, R., Lambert, D., Holmans, P., Corvin, A., et al. (2007) · American Journal of Psychiatry · doi:10.1176/appi.ajp.164.7.1099 · Cited by 103 · see citing works
Amminger, G. P., Pape, S., Rock, D., Roberts, S. A., Ott, S. L., Squires‐Wheeler, E., Kestenbaum, C. J., & Erlenmeyer‐Kimling, L. (1999) · American Journal of Psychiatry · doi:10.1176/ajp.156.4.525 · Cited by 103 · see citing works
Copy Number Variation and Schizophrenia
Clair, D. S. (2008) · Schizophrenia Bulletin · doi:10.1093/schbul/sbn147 · Cited by 98 · see citing works
Self-citationEvidence of susceptibility loci on 4q32 and 16p12 for bipolar disorder
Ekholm, J. M., Kieseppä, T., Hiekkalinna, T., Partonen, T., Paunio, T., Perola, M., Ekelund, J., Lönnqvist, J. K., Ijäs, P. H., & Peltonen, L. (2003) · Human Molecular Genetics · doi:10.1093/hmg/ddg199 · Cited by 80 · see citing works
Self-citationHennah, W., Tomppo, L., Hiekkalinna, T., Palo, O. M., Kilpinen, H., Ekelund, J., Tuulio‐Henriksson, A., Silander, K., Partonen, T., Paunio, T., et al. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddl462 · Cited by 78 · see citing works
Self-citationFamiliality of Polarity at Illness Onset in Bipolar Affective Disorder
Kassem, L., López, V. A., Hedeker, D., Steele, J., Zandi, P. P., & McMahon, F. J. (2006) · American Journal of Psychiatry · doi:10.1176/ajp.2006.163.10.1754 · Cited by 66 · see citing works
Phenotypic variations on the theme of CNVs
O’Donovan, M. C., Kirov, G., & Owen, M. J. (2008) · Nature Genetics · doi:10.1038/ng1208-1392 · Cited by 65 · see citing works
Whitaker‐Azmitia, P. M. (1995) · Neuropsychopharmacology · doi:10.1016/0893-133x(94)00081-a · Cited by 63 · see citing works
Genomic imbalances in mental retardation
Kriek, M., White, S. J., Bouma, M. C., et al. (2004) · Journal of Medical Genetics · doi:10.1136/jmg.2003.014308 · Cited by 46 · see citing works
A Hot Spot of Genetic Instability in Autism
Eichler, E. E., & Zimmerman, A. W. (2008) · New England Journal of Medicine · doi:10.1056/nejme0708756 · Cited by 37 · see citing works
Öner, Ö., & Münir, K. (2005) · Schizophrenia Research · doi:10.1016/j.schres.2005.01.005 · Cited by 35 · see citing works
Finelli, P., Natacci, F., Bonati, M. T., Gottardi, G., Engelen, J. J. M., de Die-Smulders, C. E. M., Sala, M., Giardino, D. L., & Larizza, L. (2004) · Journal of Medical Genetics · doi:10.1136/jmg.2003.016311 · Cited by 32 · see citing works
Schizophrenia: Genome, Interrupted
Cantor, R. M., & Geschwind, D. H. (2008) · Neuron · doi:10.1016/j.neuron.2008.04.007 · Cited by 28 · see citing works
Balogh, S. A., Kwon, Y. T., & Denenberg, V. H. (2000) · Learning & Memory · doi:10.1101/lm.33500 · Cited by 27 · see citing works
Correction: A Genome-Wide Investigation of SNPs and CNVs in Schizophrenia
Need, A. C., Ge, D., Weale, M. E., Maia, J. M., Feng, S., Heinzen, E. L., Shianna, K. V., Yoon, W., Kasperavičiūtė, D., Gennarelli, M., et al. (2009) · PLoS Genetics · doi:10.1371/annotation/e0196ebb-de40-453f-8f8c-791b126618da · Cited by 23 · see citing works
Self-citationConcern as revived 1918 flu virus kills monkeys
Smith, K. J. (2007) · Nature · doi:10.1038/445237a · Cited by 8 · see citing works
No association between the NDE1 gene and schizophrenia in the Japanese population
Numata, S., Ueno, S., Iga, J., et al. (2008) · Schizophrenia Research · doi:10.1016/j.schres.2007.10.032 · Cited by 7 · see citing works
Flagged first, then by citations
Cited by
Sorted by citations
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-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
The Co-Morbidity Burden of Children and Young Adults with Autism Spectrum Disorders
Kohane, I. S., McMurry, A., Weber, G., MacFadden, D., Rappaport, L., Kunkel, L., Bickel, J., Wattanasin, N., Spence, S., Murphy, S., et al. (2012) · PLoS ONE · doi:10.1371/journal.pone.0033224 · Cited by 562 · 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
Genetics and genomics of psychiatric disease
Geschwind, D. H., & Flint, J. (2015) · Science · doi:10.1126/science.aaa8954 · Cited by 424 · 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
Comorbidity clusters in autism spectrum disorders: an electronic health record time-series analysis
Doshi-Velez, F., Ge, Y., & Kohane, I. (2014) · Pediatrics · doi:10.1542/peds.2013-0819 · Cited by 412 · see citing works
The genetics of attention deficit/hyperactivity disorder in adults, a review
on behalf of the International Multicentre persistent ADHD CollaboraTion (IMpACT), Franke, B., Faraone, S. V., Asherson, P., Buitelaar, J., Bau, C. H. D., Ramos-Quiroga, J. A., Mick, E., Grevet, E. H., Johansson, S., et al. (2012) · Molecular Psychiatry · doi:10.1038/mp.2011.138 · Cited by 432 · see citing works
Self-citationDeletion 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
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
Self-citationSebat, 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
An epigenetic framework for neurodevelopmental disorders: From pathogenesis to potential therapy
Millan, M. J. (2013) · Neuropharmacology · doi:10.1016/j.neuropharm.2012.11.015 · Cited by 229 · see citing works
Doherty, J. L., & Owen, M. J. (2014) · Genome Medicine · doi:10.1186/gm546 · Cited by 228 · see citing works
A 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
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
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
Self-citationMale-biased autosomal effect of 16p13.11 copy number variation in neurodevelopmental disorders
Tropeano, M., Ahn, J. W., Dobson, R. J. B., Breen, G., Rucker, J., Dixit, A., Pal, D. K., McGuffin, P., Farmer, A., White, P. S., et al. (2013) · PLoS ONE · doi:10.1371/journal.pone.0061365 · Cited by 154 · see citing works
Self-citationKulak, A., Steullet, P., Cabungcal, J.-H., Werge, T., Ingason, A., Cuenod, M., & Do, K. Q. (2013) · Antioxidants & Redox Signaling · doi:10.1089/ars.2012.4858 · Cited by 124 · see citing works
Self-citationSahoo, T., Theisen, A., Rosenfeld, J. A., Lamb, A. N., Ravnan, J. B., Schultz, R. A., Torchia, B. S., Neill, N., Casci, I., Bejjani, B. A., et al. (2011) · Genetics in Medicine · doi:10.1097/gim.0b013e3182217a06 · Cited by 115 · see citing works
Ingason, A., Kirov, G., Giegling, I., Hansen, T., Isles, A. R., Jakobsen, K. D., Kristinsson, K. T., le Roux, L., Gustafsson, O., Craddock, N., et al. (2011) · American Journal of Psychiatry · doi:10.1176/appi.ajp.2010.09111660 · Cited by 114 · see citing works
Self-citationCommon variant at 16p11.2 conferring risk of psychosis
Steinberg, S., de Jong, S., Mattheisen, M., Costas, J., Demontis, D., Jamain, S., Pietiläinen, O. P. H., Lin, K., Papiol, S., Huttenlocher, J., et al. (2014) · Molecular Psychiatry · doi:10.1038/mp.2012.157 · Cited by 104 · see citing works
Self-citationDe Novo Rates and Selection of Schizophrenia-Associated Copy Number Variants
Rees, E., Moskvina, V., Owen, M. J., O'Donovan, M. C., & Kirov, G. (2011) · Biological Psychiatry · doi:10.1016/j.biopsych.2011.07.011 · Cited by 94 · see citing works
Genome-wide Analysis of the Role of Copy Number Variation in Schizophrenia Risk in Chinese
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 · see citing works
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 · see citing works
Self-citationVargason, T., Frye, R. E., McGuinness, D. L., & Hahn, J. (2019) · Autism Research · doi:10.1002/aur.2128 · Cited by 59 · see citing works
The role of copy number variation in schizophrenia
Kirov, G. (2010) · Expert Review of Neurotherapeutics · doi:10.1586/ern.09.133 · Cited by 52 · see citing works
Neurogenetics: Advancing the “Next-Generation” of Brain Research
Zoghbi, H. Y., & Warren, S. T. (2010) · Neuron · doi:10.1016/j.neuron.2010.10.015 · Cited by 48 · see citing works
McQuillin, A., Bass, N., Anjorin, A., Lawrence, J., Kandaswamy, R., Lydall, G., Moran, J., Sklar, P., Purcell, S., & Gurling, H. (2011) · European Journal of Human Genetics · doi:10.1038/ejhg.2010.221 · Cited by 47 · see citing works
- Authors
- Ingason, A., Rujescu, D., Cichon, S., Sigurdsson, E., Sigmundsson, T., Pietiläinen, O. P. H., Buizer-Voskamp, J. E., Strengman, E., Francks, C., Muglia, P., Gylfason, A., Gustafsson, O., Olason, P. I., Steinberg, S., Hansen, T., Jakobsen, K. D., Rasmussen, H. B., Giegling, I., Möller, H.-J., Hartmann, A., Crombie, C., Fraser, G., Walker, N., Lonnqvist, J., Suvisaari, J., Tuulio-Henriksson, A., Bramon, E., Kiemeney, L. A., Franke, B., Murray, R., Vassos, E., Toulopoulou, T., Mühleisen, T. W., Tosato, S., Ruggeri, M., Djurovic, S., Andreassen, O. A., Zhang, Z., Werge, T., Ophoff, R. A., GROUP Investigators, Rietschel, M., Nöthen, M. M., Petursson, H., Stefansson, H., Peltonen, L., Collier, D., Stefansson, K., & Clair, D. M. S.
- Affiliations
- deCODE Genetics (Iceland) (IS)
- Ludwig-Maximilians-Universität München (DE)
- University of Bonn (DE)
- National University Hospital of Iceland (IS)
- University Medical Center Utrecht (NL)
- GlaxoSmithKline (Italy) (IT)
- Sankt Hans Hospital (DK)
- University of Aberdeen (GB)
- King's College London (GB)
- Radboud University Medical Center (NL)
- University of Verona (IT)
- Oslo University Hospital (NO)
- University of California, Los Angeles (US)
- Heidelberg University (DE)
- Broad Institute (US)
- Corresponding author
- Clair, D M St
- ORCID
- Ingason, A
- Rujescu, D
- Cichon, S
- Pietiläinen, O P H
- Strengman, E
- Francks, C
- Muglia, P
- Gylfason, A
- Olason, P I
- Steinberg, S
- Hansen, T
- Giegling, I
- Suvisaari, J
- Bramon, E
- Kiemeney, L A
- Franke, B
- Murray, R
- Vassos, E
- Toulopoulou, T
- Mühleisen, T W
- Tosato, S
- Ruggeri, M
- Djurovic, S
- Andreassen, O A
- Werge, T
- Ophoff, R A
- Rietschel, M
- Nöthen, M M
- Peltonen, L
- Collier, D
- Clair, D M St
- Venue
- Molecular Psychiatry
- Published
- 2009-09-29
- Volume
- 16
- Issue
- 1
- Pages
- 17-25
- ISSN
- 1359-4184 (ISSN-L)
- 1476-5578
- PMC
- PMC3330746
- OpenAlex
- W2144799876
- Cited by
- 258
- References
- 48
- Citations by year
- 2025: 6 · 2024: 5 · 2023: 5 · 2022: 11 · 2021: 9 · 2020: 14 · 2019: 7 · 2018: 11 · 2017: 11 · 2016: 13 · 2015: 17 · 2014: 17 · 2013: 35 · 2012: 36
- FWCI
- 18.91
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Molecular Psychiatry (publishedVersion)
- PubMed (publishedVersion)
- Research Publications (Maastricht University) (publishedVersion, other-oa)
- VU Research Portal (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Digital Academic REpository of VU University Amsterdam (Vrije Universiteit Amsterdam) (submittedVersion)
- UCL Discovery (University College London) (submittedVersion)
- The HKU Scholars Hub (University of Hong Kong) (submittedVersion)
- JuSER (Forschungszentrum Jülich) (submittedVersion)
- Research Portal (King's College London) (submittedVersion)
- Lirias (KU Leuven) (submittedVersion)
- Pure Amsterdam UMC (submittedVersion)
- Research at the University of Copenhagen (University of Copenhagen) (submittedVersion)
- MPG.PuRe (Max Planck Society) (submittedVersion, other-oa)
- University of Groningen research database (University of Groningen / Centre for Information Technology) (submittedVersion)
- Radboud Repository (Radboud University) (submittedVersion)
- Hirsla (Landspítali University Hospital) (submittedVersion)
- Research Publications (Maastricht University) (submittedVersion, other-oa)
- Funders
- Wellcome Trust (089061)
- National Institute for Health and Care Research (PDA/02/06/016)
- National Institute of Mental Health (R01MH078075)
- 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 › Genome Rearrangement Algorithms
- Keywords
- schizophrenia, copy number variation, duplication, deletion, genetic risk, autism spectrum disorder, intellectual disability, segmental duplication, NDE1, family history of mental illness, age of onset
- MeSH terms
- Adolescent, Adult, Child, Chromosome Aberrations, Chromosome Mapping, Chromosomes, Human, Pair 16, Female, Humans, Male, Reference Values, Schizophrenia, Case-Control Studies, Sequence Deletion, Young Adult, DNA Copy Number Variations, Segmental Duplications, Genomic
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
