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Review

The role of copy number variation in schizophrenia

Pages 25-32 | Published online: 09 Jan 2014

Keep up to date with the latest research on this topic with citation updates for this article.

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Harshit Kumar, Manjit Panigrahi, K.A. Saravanan, Divya Rajawat, Subhashree Parida, Bharat Bhushan, G.K. Gaur, Triveni Dutt, B.P. Mishra & R.K. Singh. (2023) Genome-wide detection of copy number variations in Tharparkar cattle. Animal Biotechnology 34:2, pages 448-455.
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Min Chen, Xiao-Ying Fu, Yu-Qin Luo, Ye-Qing Qian, Ling Pan, Li-Ya Wang & Min-Yue Dong. (2019) Detection of fetal duplication 16p11.2q12.1 by next-generation sequencing of maternal plasma and invasive diagnosis. The Journal of Maternal-Fetal & Neonatal Medicine 32:1, pages 38-45.
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Gregory Costain & Anne S Bassett. (2012) Clinical applications of schizophrenia genetics: genetic diagnosis, risk, and counseling in the molecular era. The Application of Clinical Genetics 5, pages 1-18.
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Noortje WA Van de Kerkhof, Ilse Feenstra, Frank MMA van der Heijden, Nicole de Leeuw, Rolph Pfundt, Gerald Stöber, Jos IM Egger & Willem MA Verhoeven. (2012) Copy number variants in a sample of patients with psychotic disorders: is standard screening relevant for actual clinical practice?. Neuropsychiatric Disease and Treatment 8, pages 295-300.
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Articles from other publishers (41)

Alexia Bourgois, Varoona Bizaoui, Cindy Colson, Aline Vincent‐Devulder, Arnaud Molin, Marion Gérard & Nicolas Gruchy. (2023) Phenotypic and genotypic characterization of 1q21.1 copy number variants: A report of 34 new individuals and literature review. American Journal of Medical Genetics Part A.
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Sheida Nabavi & Fatima Zare. 2022. Computational Methods for Precision Oncology. Computational Methods for Precision Oncology 55 74 .
Amit L. Deshmukh, Antonio Porro, Mohiuddin Mohiuddin, Stella Lanni, Gagan B. Panigrahi, Marie-Christine Caron, Jean-Yves Masson, Alessandro A. Sartori & Christopher E. Pearson. (2021) FAN1, a DNA Repair Nuclease, as a Modifier of Repeat Expansion Disorders. Journal of Huntington's Disease 10:1, pages 95-122.
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Chiara Magri, Edoardo Giacopuzzi, Luca La Via, Daniela Bonini, Viola Ravasio, Mohammed E. A. Elhussiny, Flavia Orizio, Fabrizio Gangemi, Paolo Valsecchi, Roberto Bresciani, Alessandro Barbon, Antonio Vita & Massimo Gennarelli. (2018) A novel homozygous mutation in GAD1 gene described in a schizophrenic patient impairs activity and dimerization of GAD67 enzyme. Scientific Reports 8:1.
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Dan Zhuang & Youbo Liu. (2018) A Fast Screen and Shape Recognition Algorithm for Multiple Change-Point Detection. Mathematical Problems in Engineering 2018, pages 1-10.
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Fatima Zare, Michelle Dow, Nicholas Monteleone, Abdelrahman Hosny & Sheida Nabavi. (2017) An evaluation of copy number variation detection tools for cancer using whole exome sequencing data. BMC Bioinformatics 18:1.
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Zichao Liu, Liang Huang, Xiong-jian Luo, Lichuan Wu & Ming Li. (2015) MAOA Variants and Genetic Susceptibility to Major Psychiatric Disorders. Molecular Neurobiology 53:7, pages 4319-4327.
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Katherine D. BlizinskyBlanca Diaz-CastroMarc P. ForrestBritta SchürmannAnthony P. BachMaria Dolores Martin-de-SaavedraLei WangJohn G. CsernanskyJubao Duan & Peter Penzes. (2016) Reversal of dendritic phenotypes in 16p11.2 microduplication mouse model neurons by pharmacological targeting of a network hub. Proceedings of the National Academy of Sciences 113:30, pages 8520-8525.
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Caiye Zhu, Hongying Fan, Zehu Yuan, Shijin Hu, Xiaomeng Ma, Junli Xuan, Hongwei Wang, Li Zhang, Caihong Wei, Qin Zhang, Fuping Zhao & Lixin Du. (2016) Genome-wide detection of CNVs in Chinese indigenous sheep with different types of tails using ovine high-density 600K SNP arrays. Scientific Reports 6:1.
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Ulla Kläning, Susan L. Trumbetta, Irving I. Gottesman, Axel Skytthe, Kirsten O. Kyvik & Aksel Bertelsen. (2015) A Danish Twin Study of Schizophrenia Liability: Investigation from Interviewed Twins for Genetic Links to Affective Psychoses and for Cross-Cohort Comparisons. Behavior Genetics 46:2, pages 193-204.
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Kuangfu Hsiao, Hala Harony-Nicolas, Joseph D. Buxbaum, Ozlem Bozdagi-Gunal & Deanna L. Benson. (2016) Cyfip1 Regulates Presynaptic Activity during Development. The Journal of Neuroscience 36:5, pages 1564-1576.
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L. S. Zhou, J. Li, J. Yang, C. L. Liu, X. H. Xie, Y. N. He, X. X. Liu, W. S. Xin, W. C. Zhang, J. Ren, J. W. Ma & L. S. Huang. (2016) Genome-wide mapping of copy number variations in commercial hybrid pigs using a high-density SNP genotyping array. Russian Journal of Genetics 52:1, pages 85-92.
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Elisa Tassano, Stefania Gimelli, Maria Teresa Divizia, Margherita Lerone, Carlotta Vaccari, Aldamaria Puliti & Giorgio Gimelli. (2015) Thrombocytopenia-absent radius (TAR) syndrome due to compound inheritance for a 1q21.1 microdeletion and a low-frequency noncoding RBM8A SNP: a new familial case. Molecular Cytogenetics 8:1.
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Xiao Li, Wen Zhang, Todd Lencz, Ariel Darvasi, Anna Alkelai, Bernard Lerer, Hong-Yan Jiang, Deng-Feng Zhang, Li Yu, Xiu-feng Xu, Ming Li & Yong-Gang Yao. (2015) Common variants of IRF3 conferring risk of schizophrenia. Journal of Psychiatric Research 64, pages 67-73.
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Christina A Castellani, Melkaye G Melka, Andrea E Wishart, M Elizabeth O Locke, Zain Awamleh, Richard L O’Reilly & Shiva M Singh. (2014) Biological relevance of CNV calling methods using familial relatedness including monozygotic twins. BMC Bioinformatics 15:1.
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Giovanni Giaroli, Nicholas Bass, Andre Strydom, Khadijia Rantell & Andrew McQuillin. (2014) Does rare matter? Copy number variants at 16p11.2 and the risk of psychosis: A systematic review of literature and meta-analysis. Schizophrenia Research 159:2-3, pages 340-346.
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Avinash M. Veerappa, Marita Saldanha, Prakash Padakannaya & Nallur B. Ramachandra. (2014) Family based genome-wide copy number scan identifies complex rearrangements at 17q21.31 in dyslexics. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 165:7, pages 572-580.
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Stephen J. Haggarty, Karun Singh, Roy H. Perlis & Rakesh Karmacharya. 2014. Wnt Signaling in Development and Disease. Wnt Signaling in Development and Disease 393 409 .
Christina A. Castellani, Zain Awamleh, Melkaye G. Melka, Richard L. O'Reilly & Shiva M. Singh. (2014) Copy Number Variation Distribution in Six Monozygotic Twin Pairs Discordant for Schizophrenia. Twin Research and Human Genetics 17:2, pages 108-120.
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Detelina Grozeva, George Kirov, Donald F Conrad, Chris P Barnes, Matthew Hurles, Michael J Owen, Michael C O'Donovan & Nick Craddock. (2013) Reduced burden of very large and rare CNVs in bipolar affective disorder. Bipolar Disorders 15:8, pages 893-898.
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Avinash M Veerappa, Marita Saldanha, Prakash Padakannaya & Nallur B Ramachandra. (2013) Family-based genome-wide copy number scan identifies five new genes of dyslexia involved in dendritic spinal plasticity. Journal of Human Genetics 58:8, pages 539-547.
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H. B. KIRAN KUMAR, CHRISTINA CASTELLANI, SUJIT MAITI, RICHARD O’REILLY & SHIVA M. SINGH. (2013) Search for missing schizophrenia genes will require a new developmental neurogenomic perspective. Journal of Genetics 92:2, pages 335-340.
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Jade Chapman, Elliott Rees, Denise Harold, Dobril Ivanov, Amy Gerrish, Rebecca Sims, Paul Hollingworth, Alexandra Stretton, Peter Holmans, Michael J. Owen, Michael C. O'Donovan, Julie Williams & George Kirov. (2013) A genome-wide study shows a limited contribution of rare copy number variants to Alzheimer's disease risk. Human Molecular Genetics 22:4, pages 816-824.
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Jonathan D. Picker. 2013. Emery and Rimoin's Principles and Practice of Medical Genetics. Emery and Rimoin's Principles and Practice of Medical Genetics 1 16 .
Hywel J. Williams, Michael C. O’Donovan, Nicholas Craddock & Michael J. Owen. 2013. Genomic and Personalized Medicine. Genomic and Personalized Medicine 1051 1058 .
Jingyu Liu, Alvaro Ulloa, Nora Perrone-Bizzozero, Ronald Yeo, Jiayu Chen & Vince D. Calhoun. (2012) A Pilot Study on Collective Effects of 22q13.31 Deletions on Gray Matter Concentration in Schizophrenia. PLoS ONE 7:12, pages e52865.
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Li Jiang, Jicai Jiang, Jiying Wang, Xiangdong Ding, Jianfeng Liu & Qin Zhang. (2012) Genome-Wide Identification of Copy Number Variations in Chinese Holstein. PLoS ONE 7:11, pages e48732.
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Yohan Lee, Anand Mattai, Robert Long, Judith L. Rapoport, Nitin Gogtay & Anjené M. Addington. (2012) Microduplications disrupting the MYT1L gene (2p25.3) are associated with schizophrenia. Psychiatric Genetics 22:4, pages 206-209.
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P M Visscher, M E Goddard, E M Derks & N R Wray. (2011) Evidence-based psychiatric genetics, AKA the false dichotomy between common and rare variant hypotheses. Molecular Psychiatry 17:5, pages 474-485.
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Sarah E. Bergen & Tracey L. Petryshen. (2012) Genome-wide association studies of schizophrenia. Current Opinion in Psychiatry 25:2, pages 76-82.
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G Kirov, A J Pocklington, P Holmans, D Ivanov, M Ikeda, D Ruderfer, J Moran, K Chambert, D Toncheva, L Georgieva, D Grozeva, M Fjodorova, R Wollerton, E Rees, I Nikolov, L N van de Lagemaat, À Bayés, E Fernandez, P I Olason, Y Böttcher, N H Komiyama, M O Collins, J Choudhary, K Stefansson, H Stefansson, S G N Grant, S Purcell, P Sklar, M C O'Donovan & M J Owen. (2011) De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia. Molecular Psychiatry 17:2, pages 142-153.
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Rebecca J. Levy, Bin Xu, Joseph A. Gogos & Maria Karayiorgou. 2012. Genomic Structural Variants. Genomic Structural Variants 97 113 .
Nadine Melhem, Frank Middleton, Kathryn McFadden, Lambertus Klei, Stephen V. Faraone, Sophia Vinogradov, Josepha Tiobech, Victor Yano, Stevenson Kuartei, Kathryn Roeder, William Byerley, Bernie Devlin & Marina Myles-Worsley. (2011) Copy Number Variants for Schizophrenia and Related Psychotic Disorders in Oceanic Palau: Risk and Transmission in Extended Pedigrees. Biological Psychiatry 70:12, pages 1115-1121.
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