Analysis of genetic deletions and duplications in the University College London bipolar disorder case control sample
Open accessAbstract
Genetic deletions and duplications known as copy number variants have been strongly implicated in genetic susceptibility to schizophrenia, autism, attention deficit hyperactivity disorder and epilepsy. The overall rate of copy number variants in the University College London (UCL) bipolar disorder sample was found to be slightly lower than the rate in controls. This finding confirms the results from other studies that have also shown no increased rate of copy number variants in bipolar disorder. However, some rare duplications and deletions were observed only in bipolar disorder cases and not in controls, these included some that had previously been detected only in rare cases of bipolar disorder. We conclude that copy-number variant analysis shows no obvious sharing of the same genetic susceptibility between schizophrenia and bipolar disorder. Copy number variants do not seem to have an important role in susceptibility to bipolar disorder, they may, however, still represent a rare cause of the disease, although the evidence for this is far from clear.
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Two other studies did not support enrichment of rare CNVs in bipolar disorder.
“However, the observed effects were still quite small (OR~1.5), and results from two other studies (Grozeva et al., 2010; McQuillin et al., 2011) did not support these findings.”
From CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics (2012) · cites this paper as McQuillin et al., 2011
For BIP, there are reports of increased and similar SV burden in cases versus controls.
“For BIP, there are reports of increased 51–53 and similar SV burden in cases versus controls 54,55”
From Genetic architectures of psychiatric disorders: the emerging picture and its implications (2012) · cites this paper as [55]
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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-citationGenome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls
The Wellcome Trust Case Control Consortium, Management Committee, Burton, P. R., Clayton, D. G., Cardon, L. R., Craddock, N., Deloukas, P., Duncanson, A., Kwiatkowski, D. P., McCarthy, M. I., et al. (2007) · Nature · doi:10.1038/nature05911 · Cited by 9,442 · see citing works
Endicott, J. (1978) · Archives of General Psychiatry · doi:10.1001/archpsyc.1978.01770310043002 · Cited by 5,686 · see citing works
Regier, D. A. (1990) · JAMA · doi:10.1001/jama.1990.03450190043026 · Cited by 3,962 · see citing works
Detection of large-scale variation in the human genome
Iafrate, A. J., Feuk, L., Rivera, M. N., Listewnik, M. L., Donahoe, P. K., Qi, Y., Scherer, S. W., & Lee, C. (2004) · Nature Genetics · doi:10.1038/ng1416 · Cited by 2,892 · see citing works
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
McDonald-McGinn, D. M., Sullivan, K. E., Marino, B., Philip, N., Swillen, A., Vorstman, J. A. S., Zackai, E. H., Emanuel, B. S., Vermeesch, J. R., Morrow, B. E., et al. (2015) · Nature Reviews Disease Primers · doi:10.1038/nrdp.2015.71 · Cited by 2,236 · see citing works
Structural variation in the human genome
Feuk, L., Carson, A. R., & Scherer, S. W. (2006) · Nature Reviews Genetics · doi:10.1038/nrg1767 · Cited by 2,051 · see citing works
Origins and functional impact of copy number variation in the human genome
The Wellcome Trust Case Control Consortium, Conrad, D. F., Pinto, D., Redon, R., Feuk, L., Gokcumen, O., Zhang, Y., Aerts, J., Andrews, T. D., Barnes, C., et al. (2010) · Nature · doi:10.1038/nature08516 · Cited by 1,970 · see citing works
Regier, D. A., Farmer, M. E., Rae, D. S., et al. (1990) · PubMed · Cited by 1,913 · 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
Wang, K., Li, M., Hadley, D., Liu, R., Glessner, J., Grant, S. F. A., Hakonarson, H., & Bucan, M. (2007) · Genome Research · doi:10.1101/gr.6861907 · Cited by 1,792 · 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
Self-citationMcGuffin, P. (1991) · Archives of General Psychiatry · doi:10.1001/archpsyc.1991.01810320088015 · Cited by 1,483 · see citing works
Rare 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
Mapping autism risk loci using genetic linkage and chromosomal rearrangements
The Autism Genome Project Consortium (2007) · Nature Genetics · doi:10.1038/ng1985 · Cited by 1,402 · see citing works
Wellcome Trust Case Control Consortium, Ferreira, M. A. R., O'Donovan, M. C., Meng, Y. A., Jones, I. R., Ruderfer, D. M., Jones, L., Fan, J., Kirov, G., Perlis, R. H., et al. (2008) · Nature Genetics · doi:10.1038/ng.209 · Cited by 1,237 · see citing works
Self-citationThe Wellcome Trust Case Control Consortium (2010) · Nature · doi:10.1038/nature08979 · Cited by 807 · 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
Recurrent 16p11.2 microdeletions in autism
Kumar, R. A., KaraMohamed, S., Sudi, J., Conrad, D. F., Brune, C., Badner, J. A., Gilliam, T. C., Nowak, N. J., Cook, E. H., Dobyns, W. B., et al. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm376 · Cited by 731 · 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
Whole-genome association study of bipolar disorder
Sklar, P. B., Smoller, J. W., Fan, J., Ferreira, M. A. R., Perlis, R. H., Chambert, K., Nimgaonkar, V. L., McQueen, M. B., Faraone, S. V., Kirby, A. W., et al. (2008) · Molecular Psychiatry · doi:10.1038/sj.mp.4002151 · Cited by 691 · see citing works
Self-citationSchizophrenia 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
15q13.3 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
Chen, Y.-W., & Dilsaver, S. C. (1996) · Biological Psychiatry · doi:10.1016/0006-3223(95)00295-2 · Cited by 509 · 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
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 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
Genomic rearrangements and sporadic disease
Lupski, J. R. (2007) · Nature Genetics · doi:10.1038/ng2084 · Cited by 424 · 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
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
Smith, E. N., Bloss, C. S., Badner, J. A., Barrett, T., Belmonte, P. L., Berrettini, W., Byerley, W., Coryell, W., Craig, D., Edenberg, H. J., et al. (2009) · Molecular Psychiatry · doi:10.1038/mp.2009.43 · Cited by 363 · see citing works
Linkage and association of the glutamate receptor 6 gene with autism
Jamain, S., Betancur, C., Quach, H., Philippe, A., Fellous, M., Giros, B., Gillberg, C., Leboyer, M., & Bourgeron, T. (2002) · Molecular Psychiatry · doi:10.1038/sj.mp.4000979 · Cited by 332 · see citing works
Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry
Scott, L. J., Muglia, P., Kong, X., Guan, W., Flickinger, M., Upmanyu, R., Tozzi, F., Li, J. Z., Burmeister, M., Absher, D., et al. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0813386106 · Cited by 314 · see citing works
Deletions of NRXN1 (neurexin‐1) predispose to a wide spectrum of developmental disorders
Ching, M. S. L., Shen, Y., Tan, W., Jeste, S., Morrow, E. M., Chen, X., Mukaddes, N. M., Yoo, S.-Y., Hanson, E. M., Hundley, R. J., et al. (2010) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.31063 · Cited by 298 · 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
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
Dibbens, L. M., Mullen, S. A., Helbig, K. L., Mefford, H. C., Bayly, M. A., Bellows, S. T., Leu, C., Trucks, H., Obermeier, T., Wittig, M., et al. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp311 · Cited by 263 · 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
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
Rare Deletions at 16p13.11 Predispose to a Diverse Spectrum of Sporadic Epilepsy Syndromes
Heinzen, E. L., Radtke, R. A., Urban, T. J., Cavalleri, G. L., Depondt, C., Need, A. C., Walley, N. M., Nicoletti, P., Ge, D., Catarino, C. B., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.03.018 · Cited by 254 · see citing works
Neurexin 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
Grozeva, D. (2010) · Archives of General Psychiatry · doi:10.1001/archgenpsychiatry.2010.25 · Cited by 192 · see citing works
A 15q13.3 microdeletion segregating with autism
Pagnamenta, A. T., Wing, K., Akha, E. S., Knight, S. J. L., Bölte, S., Schmötzer, G., Duketis, E., Poustka, F., Klauck, S. M., Poustka, A., et al. (2008) · European Journal of Human Genetics · doi:10.1038/ejhg.2008.228 · Cited by 174 · 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
Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome
Bassett, A. S., Marshall, C. R., Lionel, A. C., Chow, E. W. C., & Scherer, S. W. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddn307 · Cited by 162 · see citing works
Singleton deletions throughout the genome increase risk of bipolar disorder
Zhang, D., Cheng, L., Qian, Y., Alliey-Rodriguez, N., Kelsoe, J. R., Greenwood, T., Nievergelt, C., Barrett, T. B., McKinney, R., Schork, N., et al. (2009) · Molecular Psychiatry · doi:10.1038/mp.2008.144 · Cited by 148 · see citing works
Bipolar disorder and comorbid alcoholism: prevalence rate and treatment considerations
Frye, M. A., & Salloum, I. M. (2006) · Bipolar Disorders · doi:10.1111/j.1399-5618.2006.00370.x · Cited by 146 · see citing works
Molecular genetics of bipolar disorder
Craddock, N. J., & Jones, I. R. (2001) · The British Journal of Psychiatry · doi:10.1192/bjp.178.41.s128 · Cited by 140 · see citing works
Increase in GSK3β gene copy number variation in bipolar disorder
Lachman, H. M., Pedrosa, E., Petruolo, O. A., Cockerham, M. S., Papolos, A., Novák, T., Papolos, D. F., & Stopková, P. (2007) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30498 · Cited by 127 · see citing works
Copy Number Variation in Schizophrenia in the Japanese Population
Ikeda, M., Aleksić, B., Kirov, G., Kinoshita, Y., Yamanouchi, Y., Kitajima, T., Kawashima, K., Okochi, T., Kishi, T., Zaharieva, I. T., et al. (2009) · Biological Psychiatry · doi:10.1016/j.biopsych.2009.08.034 · Cited by 110 · see citing works
Hennah, 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
Sykes, N., Claudio Toma, A., Wilson, N., Volpi, E. V., Sousa, I., Pagnamenta, A. T., Tancredi, R., Battaglia, A., Maestrini, E., Bailey, A. J., et al. (2009) · European Journal of Human Genetics · doi:10.1038/ejhg.2009.47 · Cited by 69 · see citing works
ApoE genotype is a risk factor in nonpresenilin early-onset alzheimer's disease families
Houlden, H., Crook, R., Backhovens, H., Prihar, G., Baker, M. C., Hutton, M., Rossor, M. N., Martin, J. J., Broeckhoven, C. V., & Hardy, J. (1998) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19980207)81:1 · Cited by 64 · see citing works
Biological Aspects of Affective Disorders
(1991) · Elsevier eBooks · doi:10.1016/c2009-0-02300-9 · Cited by 63 · 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
Mubumbila, V., Sutter, A., Ptok, U., Heun, R., & Quirin‐Stricker, C. (2002) · Neuroscience Letters · doi:10.1016/s0304-3940(02)00955-2 · Cited by 40 · see citing works
Genetic studies of bipolar affective disorder in large families
Blackwood, D., Muir, W. J., & Visscher, P. M. (2001) · The British Journal of Psychiatry · doi:10.1192/bjp.178.41.s134 · Cited by 35 · see citing works
Kim, K.-W., Suh, Y.-J., Park, W., et al. (2004) · Neuroscience Letters · doi:10.1016/j.neulet.2004.05.041 · Cited by 28 · see citing works
Jo, S. A., Ahn, K., Kim, J.-H., et al. (2006) · Clinica Chimica Acta · doi:10.1016/j.cca.2005.12.037 · Cited by 26 · see citing works
GENETIC ASPECTS OF AFFECTIVE DISORDERS
Rifkin, L., & Gurling, H. (1991) · Elsevier eBooks · doi:10.1016/b978-0-12-356510-5.50015-7 · Cited by 10 · see citing works
Self-citation
Flagged first, then by citations
Research works printed but not linked: 1
- Yan W, Jacobsen LK, Krasnewich DM, et al. Chromosome 22q11.2 interstitial deletions among childhood-onset schizophrenics and ‘multidimensionally impaired'. Am J Med Genet. 1998;81:41–43. [PubMed] [Google Scholar]
Cited by
Sorted by citations
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
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
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
“However, two subsequent studies did not support these findings (Grozeva et al., 2010 and McQuillin et al., 2011).”
InfluentialDoherty, J. L., & Owen, M. J. (2014) · Genome Medicine · doi:10.1186/gm546 · Cited by 228 · see citing works
The current state of play on the molecular genetics of depression
Cohen-Woods, S., Craig, I. W., & McGuffin, P. (2013) · Psychological Medicine · doi:10.1017/s0033291712001286 · Cited by 82 · see citing works
Genome-wide association analysis of copy number variation in recurrent depressive disorder
Rucker, J. J. H., Breen, G., Pinto, D., Pedroso, I., Lewis, C. M., Cohen-Woods, S., Uher, R., Schosser, A., Rivera, M., Aitchison, K. J., et al. (2013) · Molecular Psychiatry · doi:10.1038/mp.2011.144 · Cited by 51 · see citing works
Genomic Disorders in Psychiatry-What Does the Clinician Need to Know?
Lowther, C., Costain, G., Baribeau, D. A., & Bassett, A. S. (2017) · Current Psychiatry Reports · doi:10.1007/s11920-017-0831-5 · Cited by 41 · see citing works
Morris, D. W., Pearson, R. D., Cormican, P., Kenny, E. M., O'Dushlaine, C. T., Perreault, L.-P. L., Giannoulatou, E., Tropea, D., Maher, B. S., Wormley, B., et al. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddu025 · Cited by 42 · see citing works
Self-citationRajkumar, A. P., Christensen, J. H., Mattheisen, M., Jacobsen, I., Bache, I., Pallesen, J., Grove, J., Qvist, P., McQuillin, A., Gurling, H. M., et al. (2015) · Bipolar Disorders · doi:10.1111/bdi.12239 · Cited by 24 · see citing works
Self-citation
- Authors
- McQuillin, A., Bass, N., Anjorin, A., Lawrence, J., Kandaswamy, R., Lydall, G., Moran, J., Sklar, P., Purcell, S., & Gurling, H.
- Affiliations
- University College London (GB)
- Broad Institute (US)
- Corresponding author
- McQuillin, Andrew
- ORCID
- Venue
- European Journal of Human Genetics
- Published
- 2011-01-05
- Volume
- 19
- Issue
- 5
- Pages
- 588-592
- ISSN
- 1018-4813 (ISSN-L)
- 1476-5438
- PMC
- PMC3083610
- OpenAlex
- W2094458459
- Cited by
- 47
- References
- 66
- Citations by year
- 2025: 3 · 2024: 1 · 2023: 1 · 2021: 1 · 2019: 2 · 2018: 1 · 2017: 5 · 2016: 1 · 2015: 5 · 2014: 12 · 2013: 3 · 2012: 8
- FWCI
- 5.38
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- European Journal of Human Genetics (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Health Sciences › Medicine › Psychiatry and Mental health › Bipolar Disorder and Treatment
- Health Sciences › Medicine › Psychiatry and Mental health › Schizophrenia research and treatment
- Keywords
- copy number variation, bipolar disorder, gene deletion, genetic susceptibility, schizophrenia, case-control comparison
- MeSH terms
- Bipolar Disorder, United Kingdom, Humans, Schizophrenia, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, DNA Copy Number Variations
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 ›
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