CNV publications

1. Bergen SE, Ploner A, Howrigan D, et al. Joint Contributions of rare copy number variants and common SNPs to risk for schizophrenia. Am J Psychiatry 2019;176(1):29-35. PubMed

2. Saxena S, Kkani P, Ramasubramanian C, et al. Analysis of 15q11.2 CNVs in an Indian population with schizophrenia. Ann Hum Genet 2019;83(3):187-91. PubMed

1. Glessner JT, Li J, Wang D, et al. Copy number variation meta-analysis reveals a novel duplication at 9p24 associated with multiple neurodevelopmental disorders. Genome Med 2017;9(1):106. PubMed

2. Kushima I, Aleksic B, Nakatochi M, et al. High-resolution copy number variation analysis of schizophrenia in Japan. Mol Psychiatry 2017;22(3):430-40. PubMed

3. Marshall CR, Howrigan DP, Merico D, et al. Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects. Nat Genet 2017;49(1):27-35. PubMed
The largest-scale of schizophrenia CNV study in the world wide population

4. Piluso G, Monteleone P, Galderisi S, et al. Assessment of de novo copy-number variations in Italian patients with schizophrenia: Detection of putative mutations involving regulatory enhancer elements. World J Biol Psychiatry 2017:1-11. PubMed

5. Yuan J, Hu J, Li Z, et al. A replication study of schizophrenia-related rare copy number variations in a Han Southern Chinese population. Hereditas 2017;154:2. PubMed

6. Tang J, Fan Y, Li H, et al. Whole-genome sequencing of monozygotic twins discordant for schizophrenia indicates multiple genetic risk factors for schizophrenia. J Genet Genomics 2017;44(6):295-306. PubMed
Whole genome sequencing of 8 monozygotic twins discordant for schizophrenia and their healthy parents

1. Biamino E, Di Gregorio E, Belligni EF, et al. A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity. Am J Med Genet B Neuropsychiatr Genet 2016;171B(2):290-9. PubMed

2. Chen J, Calhoun VD, Perrone-Bizzozero NI, et al. A pilot study on commonality and specificity of copy number variants in schizophrenia and bipolar disorder. Transl Psychiatry 2016;6(5):e824. PubMed

3. Li Z, Chen J, Xu Y, et al. Genome-wide analysis of the role of copy number variation in schizophrenia risk in chinese. Biol Psychiatry 2016;80(4):331-37. PubMed
The largest-scale of schizophrenia CNV study in Han Chinese ancestry

4. Rees E, Kendall K, Pardinas AF, et al. Analysis of intellectual disability copy number variants for association with schizophrenia. JAMA Psychiatry 2016;73(9):963-69. PubMed

5. Zhou D, Gochman P, Broadnax DD, Rapoport JLAhn K. 15q13.3 duplication in two patients with childhood-onset schizophrenia. Am J Med Genet B Neuropsychiatr Genet 2016;171(6):777-83. PubMed

1. Rodriguez-Lopez J, Carrera N, Arrojo M, et al. An efficient screening method for simultaneous detection of recurrent copy number variants associated with psychiatric disorders. Clin Chim Acta 2015;445:34-40. PubMed

2. Rudd D, Axelsen M, Epping EA, Andreasen NWassink T. Childhood-onset schizophrenia case with 2.2 Mb deletion at chromosome 3p12.2-p12.1 and two large chromosomal abnormalities at 16q22.3-q24.3 and Xq23-q28. Clin Case Rep 2015;3(4):201-7. PubMed

1. Yuan J, Jin C, Sha W, et al. A competitive PCR assay confirms the association of a copy number variation in the VIPR2 gene with schizophrenia in Han Chinese. Schizophr Res 2014;156(1):66-70. PubMed

2. Ahn K, Gotay N, Andersen TM, et al. High rate of disease-related copy number variations in childhood onset schizophrenia. Mol Psychiatry 2014;19(5):568-72. PubMed

3. Castellani CA, Awamleh Z, Melka MG, O'Reilly RLSingh SM. Copy number variation distribution in six monozygotic twin pairs discordant for schizophrenia. Twin Res Hum Genet 2014;17(2):108-20. PubMed

4. Georgieva L, Rees E, Moran JL, et al. De novo CNVs in bipolar affective disorder and schizophrenia. Hum Mol Genet 2014;23(24):6677-83. PubMed

5. Ionita-Laza I, Xu B, Makarov V, et al. Scan statistic-based analysis of exome sequencing data identifies FAN1 at 15q13.3 as a susceptibility gene for schizophrenia and autism. Proc Natl Acad Sci U S A 2014;111(1):343-8. PubMed

6. Kirov G, Rees E, Walters JT, et al. The penetrance of copy number variations for schizophrenia and developmental delay. Biol Psychiatry 2014;75(5):378-85. PubMed

7. Mulle JG, Pulver AE, McGrath JA, et al. Reciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia. Biol Psychiatry 2014;75(5):371-7. PubMed

8. Rees E, Kirov G, Sanders A, et al. Evidence that duplications of 22q11.2 protect against schizophrenia. Mol Psychiatry 2014;19(1):37-40. PubMed

9. Rees E, Walters JT, Chambert KD, et al. CNV analysis in a large schizophrenia sample implicates deletions at 16p12.1 and SLC1A1 and duplications at 1p36.33 and CGNL1. Hum Mol Genet 2014;23(6):1669-76. PubMed

10. Rees E, Walters JT, Georgieva L, et al. Analysis of copy number variations at 15 schizophrenia-associated loci. Br J Psychiatry 2014;204(2):108-14. PubMed

11. Rudd DS, Axelsen M, Epping EA, Andreasen NCWassink TH. A genome-wide CNV analysis of schizophrenia reveals a potential role for a multiple-hit model. Am J Med Genet B Neuropsychiatr Genet 2014;165B(8):619-26. PubMed

12. Szatkiewicz JP, O'Dushlaine C, Chen G, et al. Copy number variation in schizophrenia in Sweden. Mol Psychiatry 2014;19(7):762-73. PubMed

13. Todarello G, Feng N, Kolachana BS, et al. Incomplete penetrance of NRXN1 deletions in families with schizophrenia. Schizophr Res 2014;155(1-3):1-7. PubMed

1. Aleksic B, Kushima I, Ohye T, et al. Definition and refinement of the 7q36.3 duplication region associated with schizophrenia. Sci Rep 2013;3:2587. PubMed

2. Bloom RJ, Kahler AK, Collins AL, et al. Comprehensive analysis of copy number variation in monozygotic twins discordant for bipolar disorder or schizophrenia. Schizophr Res 2013;146(1-3):289-90. PubMed

3. Costain G, Lionel AC, Merico D, et al. Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays. Hum Mol Genet 2013;22(22):4485-501. PubMed

4. Guha S, Rees E, Darvasi A, et al. Implication of a rare deletion at distal 16p11.2 in schizophrenia. JAMA Psychiatry 2013;70(3):253-60. PubMed

5. Priebe L, Degenhardt F, Strohmaier J, et al. Copy number variants in German patients with schizophrenia. PLoS One 2013;8(7):e64035. PubMed

6. Rippey C, Walsh T, Gulsuner S, et al. Formation of chimeric genes by copy-number variation as a mutational mechanism in schizophrenia. Am J Hum Genet 2013;93(4):697-710. PubMed

7. Ruderfer DM, Chambert K, Moran J, et al. Mosaic copy number variation in schizophrenia. Eur J Hum Genet 2013;21(9):1007-11. PubMed

8. Szatkiewicz JP, Neale BM, O'Dushlaine C, et al. Detecting large copy number variants using exome genotyping arrays in a large Swedish schizophrenia sample. Mol Psychiatry 2013;18(11):1178-84. PubMed

9. Van Den Bossche MJ, Strazisar M, Cammaerts S, et al. Identification of rare copy number variants in high burden schizophrenia families. Am J Med Genet B Neuropsychiatr Genet 2013;162B(3):273-82. PubMed

10. Zhao Q, Li T, Zhao X, et al. Rare CNVs and tag SNPs at 15q11.2 are associated with schizophrenia in the Han Chinese population. Schizophr Bull 2013;39(3):712-9. PubMed

1. Bergen SE, O'Dushlaine CT, Ripke S, et al. Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder. Mol Psychiatry 2012;17(9):880-6. PubMed

2. Kirov G, Pocklington AJ, Holmans P, et al. De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia. Mol Psychiatry 2012;17(2):142-53. PubMed

3. Liao HM, Chao YL, Huang AL, et al. Identification and characterization of three inherited genomic copy number variations associated with familial schizophrenia. Schizophr Res 2012;139(1-3):229-36. PubMed

4. Liu J, Ulloa A, Perrone-Bizzozero N, et al. A pilot study on collective effects of 22q13.31 deletions on gray matter concentration in schizophrenia. PLoS One 2012;7(12):e52865. PubMed

5. Ye T, Lipska BK, Tao R, et al. Analysis of copy number variations in brain DNA from patients with schizophrenia and other psychiatric disorders. Biol Psychiatry 2012;72(8):651-4. PubMed

1. Buizer-Voskamp JE, Muntjewerff JW, Genetic R, et al. Genome-wide analysis shows increased frequency of copy number variation deletions in Dutch schizophrenia patients. Biol Psychiatry 2011;70(7):655-62. PubMed

2. Ingason A, Kirov G, Giegling I, et al. Maternally derived microduplications at 15q11-q13: implication of imprinted genes in psychotic illness. Am J Psychiatry 2011;168(4):408-17. PubMed

3. Ingason A, Rujescu D, Cichon S, et al. Copy number variations of chromosome 16p13.1 region associated with schizophrenia. Mol Psychiatry 2011;16(1):17-25. PubMed

4. Levinson DF, Duan J, Oh S, et al. Copy number variants in schizophrenia: confirmation of five previous findings and new evidence for 3q29 microdeletions and VIPR2 duplications. Am J Psychiatry 2011;168(3):302-16. PubMed

5. Maiti S, Kumar KH, Castellani CA, O'Reilly RSingh SM. Ontogenetic de novo copy number variations (CNVs) as a source of genetic individuality: studies on two families with MZD twins for schizophrenia. PLoS One 2011;6(3):e17125. PubMed

6. Malhotra D, McCarthy S, Michaelson JJ, et al. High frequencies of de novo CNVs in bipolar disorder and schizophrenia. Neuron 2011;72(6):951-63. PubMed

7. Melhem N, Middleton F, McFadden K, et al. Copy number variants for schizophrenia and related psychotic disorders in Oceanic Palau: risk and transmission in extended pedigrees. Biol Psychiatry 2011;70(12):1115-21. PubMed

8. Ramalingam A, Zhou XG, Fiedler SD, et al. 16p13.11 duplication is a risk factor for a wide spectrum of neuropsychiatric disorders. J Hum Genet 2011;56(7):541-4. PubMed

9. Vacic V, McCarthy S, Malhotra D, et al. Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia. Nature 2011;471(7339):499-503. PubMed

1. Mulle JG, Dodd AF, McGrath JA, et al. Microdeletions of 3q29 confer high risk for schizophrenia. Am J Hum Genet 2010;87(2):229-36. PubMed

2. Rodriguez-Santiago B, Brunet A, Sobrino B, et al. Association of common copy number variants at the glutathione S-transferase genes and rare novel genomic changes with schizophrenia. Mol Psychiatry 2010;15(10):1023-33. PubMed

3. Saus E, Brunet A, Armengol L, et al. Comprehensive copy number variant (CNV) analysis of neuronal pathways genes in psychiatric disorders identifies rare variants within patients. J Psychiatr Res 2010;44(14):971-8. PubMed

4. Tam GW, van de Lagemaat LN, Redon R, et al. Confirmed rare copy number variants implicate novel genes in schizophrenia. Biochem Soc Trans 2010;38(2):445-51. PubMed

5. Amar S, Ovadia O, Maier W, et al. Copy number variation of the SELENBP1 gene in schizophrenia. Behav Brain Funct 2010;6:40. PubMed

6. Bassett AS, Costain G, Fung WL, et al. Clinically detectable copy number variations in a Canadian catchment population of schizophrenia. J Psychiatr Res 2010;44(15):1005-9. PubMed

7. Ikeda M, Aleksic B, Kirov G, et al. Copy number variation in schizophrenia in the Japanese population. Biol Psychiatry 2010;67(3):283-6. PubMed

8. Lee CH, Liu CM, Wen CC, Chang SMHwu HG. Genetic copy number variants in sib pairs both affected with schizophrenia. J Biomed Sci 2010;17:2. PubMed

9. Magri C, Sacchetti E, Traversa M, et al. New copy number variations in schizophrenia. PLoS One 2010;5(10):e13422. PubMed

10. Moreno-De-Luca D, Consortium S, Mulle JG, et al. Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia. Am J Hum Genet 2010;87(5):618-30. PubMed

1. Bruce HA, Sachs N, Rudnicki DD, et al. Long tandem repeats as a form of genomic copy number variation: structure and length polymorphism of a chromosome 5p repeat in control and schizophrenia populations. Psychiatr Genet 2009;19(2):64-71. PubMed

2. Kirov G, Grozeva D, Norton N, et al. Support for the involvement of large copy number variants in the pathogenesis of schizophrenia. Hum Mol Genet 2009;18(8):1497-503. PubMed

3. McCarthy SE, Makarov V, Kirov G, et al. Microduplications of 16p11.2 are associated with schizophrenia. Nat Genet 2009;41(11):1223-7. PubMed

4. Need AC, Ge D, Weale ME, et al. A genome-wide investigation of SNPs and CNVs in schizophrenia. PLoS Genet 2009;5(2):e1000373. PubMed

5. Rujescu D, Ingason A, Cichon S, et al. Disruption of the neurexin 1 gene is associated with schizophrenia. Hum Mol Genet 2009;18(5):988-96. PubMed

6. Xu B, Woodroffe A, Rodriguez-Murillo L, et al. Elucidating the genetic architecture of familial schizophrenia using rare copy number variant and linkage scans. Proc Natl Acad Sci U S A 2009;106(39):16746-51. PubMed

1. Kirov G, Gumus D, Chen W, et al. Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia. Hum Mol Genet 2008;17(3):458-65. PubMed

2. Stefansson H, Rujescu D, Cichon S, et al. Large recurrent microdeletions associated with schizophrenia. Nature 2008;455(7210):232-6. PubMed

3. International Schizophrenia Consortium. Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature 2008;455(7210):237-41. PubMed

4. Vrijenhoek T, Buizer-Voskamp JE, van der Stelt I, et al. Recurrent CNVs disrupt three candidate genes in schizophrenia patients. Am J Hum Genet 2008;83(4):504-10. PubMed

5. Walsh T, McClellan JM, McCarthy SE, et al. Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science 2008;320(5875):539-43. PubMed

6. Xu B, Roos JL, Levy S, et al. Strong association of de novo copy number mutations with sporadic schizophrenia. Nat Genet 2008;40(7):880-5. PubMed

1. Sutrala SR, Goossens D, Williams NM, et al. Gene copy number variation in schizophrenia. Schizophr Res 2007;96(1-3):93-9. PubMed

1. Wilson GM, Flibotte S, Chopra V, et al. DNA copy-number analysis in bipolar disorder and schizophrenia reveals aberrations in genes involved in glutamate signaling. Hum Mol Genet 2006;15(5):743-9. PubMed