The DOI matches its Crossref record; 32 of the 32 references it cites were found in a registry or an index.
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.
Overview
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
Verification
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?
The source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
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]
Experimental — accuracy not yet measured
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]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
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
Flagged first, then by citations
Cited by
Sorted by citations
Items 601–700 of 1,002
Shen, Y., & Wu, B.-L. (2009) · Journal of genetics and genomics/Journal of Genetics and Genomics · doi:10.1016/s1673-8527(08)60113-7 · Cited by 51
What have the genomics ever done for the psychoses?
Gill, M., Donohoe, G. J., & Corvin, A. P. (2009) · Psychological Medicine · doi:10.1017/s0033291709991139 · Cited by 51
Modelling Learning and Memory in Drosophila to Understand Intellectual Disabilities
Mariano, V., Achsel, T., Bagni, C., & Kanellopoulos, A. K. (2020) · Neuroscience · doi:10.1016/j.neuroscience.2020.07.034 · Cited by 51
Comparing Copy Number Variations in a Danish Case Cohort of Individuals With Psychiatric Disorders
Sánchez, X. C., Helenius, D., Bybjerg‐Grauholm, J., Pedersen, C. B., HOUGAARD, D. M., Børglum, A. D., Nordentoft, M., Mors, O. N., Mortensen, P. B., Geschwind, D. H., et al. (2021) · JAMA Psychiatry · doi:10.1001/jamapsychiatry.2021.3392 · Cited by 51
Self-citationRisk architecture of schizophrenia
Švrakić, D. M., Zorumski, C. F., Svrakic, N. M., Zwir, I. J. S., & Cloninger, C. R. (2013) · Current Opinion in Psychiatry · doi:10.1097/yco.0b013e32835d8329 · Cited by 50
Gender‐specificCOMTVal158Met polymorphism association in Spanish schizophrenic patients
Hoenicka, J., Garrido, E., Martínez, I., Ponce, G., Aragüés, M., Rodríguez–Jiménez, R., España‐Serrano, L., Alvira-Botero, X., Santos, J. L., Rubio, G., et al. (2009) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30957 · Cited by 50
Hayashi‐Takagi, A., & Sawa, A. (2010) · Brain Research Bulletin · doi:10.1016/j.brainresbull.2010.04.007 · Cited by 50
Lu, Q., Aguilar, B. J., Li, M., Jiang, Y., & Chen, Y. (2016) · Human Genetics · doi:10.1007/s00439-016-1705-3 · Cited by 50
Germline 16p11.2 Microdeletion Predisposes to Neuroblastoma
Egolf, L. E., Vaksman, Z., López, G., Rokita, J. L., Modi, A., Basta, P. V., Hakonarson, H. H., Olshan, A. F., & Diskin, S. J. (2019) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2019.07.020 · Cited by 50
Carvill, G. L., & Mefford, H. C. (2013) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2013.03.004 · Cited by 50
Lukoshe, A., White, T., Schmidt, M. N., van der Lugt, A., & Hokken-Koelega, A. C. (2013) · Journal of Neurodevelopmental Disorders · doi:10.1186/1866-1955-5-31 · Cited by 49
Induced pluripotent stem cells: A new tool to confront the challenge of neuropsychiatric disorders
Vaccarino, F. M., Stevens, H. E., Kocabas, A. M., Palejev, D., Szekely, A. M., Grigorenko, E. L., & Weissman, S. M. (2011) · Neuropharmacology · doi:10.1016/j.neuropharm.2011.02.021 · Cited by 49
Neurodevelopment in Schizophrenia: The Role of the Wnt Pathways
Panaccione, I., Napoletano, F., Forte, A. M., Kotzalidis, G. D., CASALE, A. D., Rapinesi, C., Brugnoli, C., Serata, D., Caccia, F., Cuomo, I., et al. (2013) · Current Neuropharmacology · doi:10.2174/1570159x113119990037 · Cited by 49
Biamino, E., Gregorio, E. D., Belligni, E. F., Keller, R., Riberi, E., Gandione, M., Calcia, A., Mancini, C., Giorgio, E., Cavalieri, S., et al. (2015) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32406 · Cited by 49
The Genetics of Eating Disorders
Helder, S. G., & Collier, D. A. (2010) · Current topics in behavioral neurosciences · doi:10.1007/7854_2010_79 · Cited by 49
Self-citationNeurodevelopmental Origins of Schizophrenia
Weinberger, D. R., & Levitt, P. R. (2010) · Wiley eBooks · doi:10.1002/9781444327298.ch19 · Cited by 49
Mefford, H. C. (2009) · Genetics in Medicine · doi:10.1097/gim.0b013e3181c175d2 · Cited by 49
Shen, Y., Chen, X., Wang, L., Guo, J., Shen, J., An, Y., Zhu, H., Zhu, Y., Xin, R., Bao, Y., et al. (2010) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.31147 · Cited by 48
Genetic contribution to common epilepsies
Sisodiya, S. M., & Mefford, H. C. (2011) · Current Opinion in Neurology · doi:10.1097/wco.0b013e328344062f · Cited by 48
Heredity in epilepsy: Neurodevelopment, comorbidity, and the neurological trait
Johnson, M. R., & Shorvon, S. D. (2011) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2011.07.031 · Cited by 48
Olfactory copy number association with age at onset of Alzheimer disease
Shaw, C. A., Li, Y., Wiszniewska, J., Chasse, S., Zaidi, S., Jin, W., Dawson, B., Wilhelmsen, K. C., Lupski, J. R., Belmont, J. W., et al. (2011) · Neurology · doi:10.1212/wnl.0b013e3182166df5 · Cited by 48
Donohoe, G. J., Walters, J., Morris, D. W., Quinn, E. M., Judge, R., Norton, N., Giegling, I., Hartmann, A. M., Möller, H. J., Muglia, P., et al. (2009) · Archives of General Psychiatry · doi:10.1001/archgenpsychiatry.2009.139 · Cited by 48
Self-citationCNV Concordance in 1,097 MZ Twin Pairs
Abdellaoui, A., Ehli, E. A., Hottenga, J., Weber, Z. M., Mbarek, H., Willemsen, G. A. H. M., van Beijsterveldt, T., Brooks, A. I., Hudziak, J. J., Sullivan, P. F., et al. (2015) · Twin Research and Human Genetics · doi:10.1017/thg.2014.86 · Cited by 48
Steen, V. M., Skrede, S., Polushina, T. V., López, M., Andreassen, O. A., Fernø, J., & Hellard, S. L. (2016) · European Neuropsychopharmacology · doi:10.1016/j.euroneuro.2016.07.011 · Cited by 48
Self-citationHigher Gestational Choline Levels in Maternal Infection Are Protective for Infant Brain Development
Freedman, R., Hunter, S. K., Law, A. J., Wagner, B. D., D’Alessandro, A., Christians, U., Noonan, K., Wyrwa, A., & Hoffman, M. C. (2019) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2018.12.010 · Cited by 48
Paired involvement of human-specific Olduvai domains and NOTCH2NL genes in human brain evolution
Fiddes, I. T., Pollen, A. A., Davis, J. M., & Sikela, J. M. (2019) · Human Genetics · doi:10.1007/s00439-019-02018-4 · Cited by 48
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
Matosin, N., Fernandez, F., Lum, J. S., & Newell, K. A. (2015) · Neuropharmacology · doi:10.1016/j.neuropharm.2015.08.003 · Cited by 47
Thomsen, M. S., Weyn, A., & Mikkelsen, J. D. (2011) · Bipolar Disorders · doi:10.1111/j.1399-5618.2011.00961.x · Cited by 47
Copy Number Variation Distribution in Six Monozygotic Twin Pairs Discordant for Schizophrenia
Castellani, C. A., Awamleh, Z., Melka, M. G., O’Reilly, R. L., & Singh, S. M. (2014) · Twin Research and Human Genetics · doi:10.1017/thg.2014.6 · Cited by 47
Szatkiewicz, J., Wang, W., Sullivan, P. F., Wang, W. W., & Sun, W. (2012) · Nucleic Acids Research · doi:10.1093/nar/gks1363 · Cited by 47
The Role of Nicotine in Schizophrenia
Featherstone, R. E., & Siegel, S. J. (2015) · International review of neurobiology · doi:10.1016/bs.irn.2015.07.002 · Cited by 47
22q11 deletion syndrome: a review of the neuropsychiatric features and their neurobiological basis
Squarcione, C., Torti, M. C., Di Fabio, F., & Biondi, M. (2013) · Neuropsychiatric Disease and Treatment · doi:10.2147/ndt.s52188 · Cited by 46
Liao, J., DeWard, S. J., Madan‐Khetarpal, S., Surti, U., & Hu, J. (2011) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.34237 · Cited by 46
An emerging role for Wnt and GSK3 signaling pathways in schizophrenia
Singh, K. K. (2013) · Clinical Genetics · doi:10.1111/cge.12111 · Cited by 46
Genome-Wide Association Study of Copy Number Variations (CNVs) with Opioid Dependence
Li, D., Zhao, H., Kranzler, H. R., Li, M. D., Jensen, K. P., Zayats, T., Farrer, L. A., & Gelernter, J. E. (2014) · Neuropsychopharmacology · doi:10.1038/npp.2014.290 · Cited by 46
Patel, A., & Rosenfeld, J. A. (2016) · Journal of Pediatric Genetics · doi:10.1055/s-0036-1584306 · Cited by 46
Kupferschmidt, D. A., & Gordon, J. A. (2018) · Brain and Neuroscience Advances · doi:10.1177/2398212818771821 · Cited by 46
Endophenotypes in Schizophrenia: Digging Deeper to Identify Genetic Mechanisms
Greenwood, T. A., Shutes‐David, A., & Tsuang, D. W. (2019) · Journal of Psychiatry and Brain Science · doi:10.20900/jpbs.20190005 · Cited by 46
Human-Specific Genes, Cortical Progenitor Cells, and Microcephaly
Heide, M., & Huttner, W. Β. (2021) · Cells · doi:10.3390/cells10051209 · Cited by 46
Formation of Chimeric Genes by Copy-Number Variation as a Mutational Mechanism in Schizophrenia
Rippey, C., Walsh, T., Gülsüner, S., Brodsky, M., Nord, A. S., Gasperini, M. J., Pierce, S. B., Spurrell, C. H., Coe, B. P., Krumm, N., et al. (2013) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2013.09.004 · Cited by 45
Copy number variation associated with meiotic arrest in idiopathic male infertility
Eggers, S., DeBoer, K., van den Bergen, J., Gordon, L., White, S. J., Jamsai, D., McLachlan, R. I., Sinclair, A. H., & O’Bryan, M. K. (2014) · Fertility and Sterility · doi:10.1016/j.fertnstert.2014.09.030 · Cited by 45
Hu, Z., Gao, S., Lindberg, D. M., Panja, D., Wakabayashi, Y., Li, K., Kleinman, J. E., Zhu, J., & Li, Z. (2019) · Translational Psychiatry · doi:10.1038/s41398-019-0538-y · Cited by 45
Identifying Human Genome-Wide CNV, LOH and UPD by Targeted Sequencing of Selected Regions
Wang, Y., Li, W., Xia, Y., Wang, C., Tang, Y. T., Guo, W., Li, J., Zhao, X., Sun, Y., Hu, J., et al. (2015) · PLoS ONE · doi:10.1371/journal.pone.0123081 · Cited by 45
Copy number variants in genetic susceptibility and severity of systemic lupus erythematosus
Ptacek, T., Li, X., Kelley, J. M., & Edberg, J. C. (2008) · Cytogenetic and Genome Research · doi:10.1159/000184701 · Cited by 45
Goldenberg, P. C., Calkins, M. E., Richard, J. A., McDonald‐McGinn, D. M., Zackai, E. H., Mitra, N., Emanuel, B. S., Devoto, M., Borgmann‐Winter, K. E., Kohler, C. G., et al. (2011) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32005 · Cited by 45
Progranulin (GRN)in two siblings of a Latino family and in other patients with Schizophrenia
Momeni, P., DeTucci, K. A., Straub, R. E., Weinberger, D. R., Davies, P., Grafman, J. H., Hardy, J., & Huey, E. D. (2010) · Neurocase · doi:10.1080/13554790903456209 · Cited by 45
Incriminating genomic evidence
Lupski, J. R. (2008) · Nature · doi:10.1038/455178a · Cited by 44
Abdelmoity, A. T., LePichon, J.-B., Nyp, S. S., Soden, S. E., Daniel, C. A., & Yu, S. (2012) · Journal of Developmental & Behavioral Pediatrics · doi:10.1097/dbp.0b013e31826052ae · Cited by 44
Buizer‐Voskamp, J. E., Blauw, H. M., Boks, M. P., van Eijk, K. R., Veldink, J. H., Hennekam, E. A. M., Vorstman, J. A. S., Mulder, F., Tiemeier, H. W., Uitterlinden, A. G., et al. (2013) · Human Genetics · doi:10.1007/s00439-012-1261-4 · Cited by 44
Self-citationGenomic trade-offs: are autism and schizophrenia the steep price of the human brain?
Sikela, J. M., & Quick, V. B. S. (2018) · Human Genetics · doi:10.1007/s00439-017-1865-9 · Cited by 44
Bodkin, J. A., Coleman, M. J., Godfrey, L., Carvalho, C. M. B., Morgan, C. J., Suckow, R. F., Anderson, T., Öngür, D., Kaufman, M. J., Lewandowski, K. E., et al. (2019) · Biological Psychiatry · doi:10.1016/j.biopsych.2019.04.031 · Cited by 44
Self-citationAlexander‐Bloch, A. F., Huguet, G., Schultz, L. M., Huffnagle, N., Jacquemont, S., Seidlitz, J., Saci, Z., Moore, T. M., Bethlehem, R. A. I., Mollon, J., et al. (2022) · JAMA Psychiatry · doi:10.1001/jamapsychiatry.2022.1017 · Cited by 43
The genetics of Tourette disorder
State, M. W. (2011) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2011.01.007 · Cited by 43
Common Variants in the BCL9 Gene Conferring Risk of Schizophrenia
Li, J., Zhou, G., Ji, W., Feng, G., Zhao, Q., Liu, J., Li, T., Li, Y., Chen, P., Zeng, Z., et al. (2011) · Archives of General Psychiatry · doi:10.1001/archgenpsychiatry.2011.1 · Cited by 43
Self-citationOwens, S. F., Picchioni, M., Rijsdijk, F. V., Stahl, D. R., Vassos, E., Rodger, A. K., Collier, D. A., Murray, R. M., & Toulopoulou, T. (2010) · Psychological Medicine · doi:10.1017/s0033291710000942 · Cited by 43
Self-citationA Common Molecular Mechanism Underlies Two Phenotypically Distinct 17p13.1 Microdeletion Syndromes
Shlien, A., Baskin, B., Achatz, M. I., Stavropoulos, D. J., Nichols, K. E., Hudgins, L., Morel, C. F., Adam, M. P., Zhukova, N., Rotin, L. E., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.10.007 · Cited by 43
Genomic Landscape of a Three-Generation Pedigree Segregating Affective Disorder
Yang, S., Wang, K., Gregory, B. L., Berrettini, W. H., Wang, L., Hakonarson, H. H., & Bućan, M. (2009) · PLoS ONE · doi:10.1371/journal.pone.0004474 · Cited by 43
Sasaki, H., Emi, M., Iijima, H., Ito, N., Sato, H., Yabe, I., Kato, T., Utsumi, J., & Matsubara, K. (2011) · Molecular Brain · doi:10.1186/1756-6606-4-24 · Cited by 43
From De Novo Mutations to Personalized Therapeutic Interventions in Autism
Brandler, W. M., & Sebat, J. L. (2015) · Annual Review of Medicine · doi:10.1146/annurev-med-091113-024550 · Cited by 43
A population-based association study of 2q32.3 and 8q21.3 loci with schizophrenia in Han Chinese
Guan, F., Wei, S., Zhang, C., Zhang, H., Zhang, B., Xing, B., Feng, Z., Gao, C., Liu, X., & Li, S. (2013) · Journal of Psychiatric Research · doi:10.1016/j.jpsychires.2013.01.025 · Cited by 43
Jalbrzikowski, M., Lázaro, M. T., Gao, F., Huang, A., Chow, C. C., Geschwind, D. H., Coppola, G., & Bearden, C. E. (2015) · PLoS ONE · doi:10.1371/journal.pone.0132542 · Cited by 43
The Role of Structural Variation in Adaptation and Evolution of Yeast and Other Fungi
Gorkovskiy, A., & Verstrepen, K. J. (2021) · Genes · doi:10.3390/genes12050699 · Cited by 44
Lacaria, M., Saha, P., Potocki, L., Bi, W., Yan, J., Girirajan, S., Burns, B., Elsea, S. H., Walz, K., Chan, L., et al. (2012) · PLoS Genetics · doi:10.1371/journal.pgen.1002713 · Cited by 43
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
Self-citationCopy number variation and autism: New insights and clinical implications
Chung, B. H., Tao, V. Q., & Tso, W. W. Y. (2013) · Journal of the Formosan Medical Association · doi:10.1016/j.jfma.2013.01.005 · Cited by 42
Fode, P., Jespersgaard, C., Hardwick, R. J., Bogle, H., Theisen, M., Dodoo, D., Leníček, M., Vı́tek, L., Vieira, A., Freitas, J., et al. (2011) · PLoS ONE · doi:10.1371/journal.pone.0016768 · Cited by 42
de Leeuw, N., Hehir‐Kwa, J. Y., Simons, A., van Kessel, A. G., Smeets, D., Faas, B. H. W., & Pfundt, R. (2011) · Cytogenetic and Genome Research · doi:10.1159/000331273 · Cited by 42
An EJC Factor RBM8a Regulates Anxiety Behaviors
Alachkar, A., Jiang, D., Harrison, M. A., Zhou, Y., Chen, G., & Mao, Y. (2013) · Current Molecular Medicine · doi:10.2174/15665240113139990019 · Cited by 42
Kotlar, A., Mercer, K. B., Zwick, M. E., & Mullé, J. G. (2015) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2015.10.008 · Cited by 42
A genome‐wide association study of copy number variations with umbilical hernia in swine
Long, Y., Su, Y., Ai, H., Zhang, Z., Yang, B. J., Ruan, G., Xiao, S., Liao, X., Ren, J., Huang, L., et al. (2016) · Animal Genetics · doi:10.1111/age.12402 · Cited by 42
Biomarkers for Psychiatric Disorders
Turck, C. W. (2009) · Springer eBooks · doi:10.1007/978-0-387-79251-4 · Cited by 42
Yang, T., Guo, Y., Papasian, C. J., & Deng, H. (2012) · Elsevier eBooks · doi:10.1016/b978-0-12-387829-8.00009-3 · Cited by 42
Ranlund, S. M., Rosa, M. J., de Jong, S., Cole, J. H., Kyriakopoulos, M., Fu, C. H. Y., Mehta, M. A., & Dima, D. (2018) · NeuroImage Clinical · doi:10.1016/j.nicl.2018.10.008 · Cited by 42
Global Deep-Sea Biodiversity Research Trends Highlighted by Science Mapping Approach
Costa, C., Fanelli, E., Marini, S., Danovaro, R., & Aguzzi, J. (2020) · Frontiers in Marine Science · doi:10.3389/fmars.2020.00384 · Cited by 42
Kato, T., Sato, H., Emi, M., Seino, T., Arawaka, S., Iseki, C., Takahashi, Y., Wada, M., & Kawanami, T. (2011) · Internal Medicine · doi:10.2169/internalmedicine.50.4505 · Cited by 42
Schizophrenia Genetics: Putting All the Pieces Together
Girard, S., Dion, P. A., & Rouleau, G. A. (2012) · Current Neurology and Neuroscience Reports · doi:10.1007/s11910-012-0266-7 · Cited by 41
Predictive and Diagnostic Genetic Testing in Psychiatry
Mitchell, P. B., Meiser, B., Wilde, A., Fullerton, J. M., Donald, J. A., Wilhelm, K. A., & Schofield, P. R. (2010) · Clinics in Laboratory Medicine · doi:10.1016/j.cll.2010.07.001 · Cited by 41
Schizophrenia: The “BLOC” May Be in the Endosomes
Ryder, P. V., & Faúndez, V. (2009) · Science Signaling · doi:10.1126/scisignal.293pe66 · Cited by 41
Catanzaro, D., Chaplick, S., Felsner, S., Halldórsson, B. V., Halldórsson, M. M., Hixon, T., & Stacho, J. (2015) · Discrete Applied Mathematics · doi:10.1016/j.dam.2015.08.019 · Cited by 41
Das, D. K., Tapias, V., D’Aiuto, L., Chowdari, K. V., Francis, L., Zhi, Y., Ghosh, A., Surti, U., Tischfield, J. A., Sheldon, M., et al. (2015) · Complex Psychiatry · doi:10.1159/000430916 · Cited by 41
Positive Traits in the Bipolar Spectrum: The Space between Madness and Genius
Greenwood, T. A. (2016) · Complex Psychiatry · doi:10.1159/000452416 · Cited by 41
Common variants in polygenic schizophrenia
Glessner, J., & Hakonarson, H. H. (2009) · Genome biology · doi:10.1186/gb-2009-10-9-236 · Cited by 41
Ingason, A., Giegling, I., Hartmann, A. M., Genius, J., Konte, B., Friedl, M., Ripke, S., Sullivan, P. F., Clair, D. S., Collier, D. A., et al. (2015) · Translational Psychiatry · doi:10.1038/tp.2015.151 · Cited by 41
Self-citationWhole genome association studies in complex diseases: where do we stand?
Need, A. C., & Goldstein, D. B. (2010) · Dialogues in Clinical Neuroscience · doi:10.31887/dcns.2010.12.1/aneed · Cited by 40
Self-citationKvajo, M., McKellar, H., & Gogos, J. A. (2011) · Neuroscience · doi:10.1016/j.neuroscience.2011.07.051 · Cited by 40
Common recurrent microduplication syndromes: Diagnosis and management in clinical practice
Berg, J. S., Potocki, L., & Bacino, C. A. (2010) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33185 · Cited by 40
Rare copy number variants in neuropsychiatric disorders: Specific phenotype or not?
Bossche, M. J. A. V. D., Johnstone, M., Stražišar, M., Pickard, B. S., Goossens, D., Lenaerts, A., Zutter, S. D., Nordin, A., Norrback, K., Mendlewicz, J., et al. (2012) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32088 · Cited by 40
Dickinson, D., Straub, R. E., Trampush, J. W., Gao, Y., Feng, N., Xie, B., Shin, J. H., Lim, H. K., Ursini, G., Bigos, K. L., et al. (2014) · JAMA Psychiatry · doi:10.1001/jamapsychiatry.2014.157 · Cited by 40
Self-citationProgress in defining the biological causes of schizophrenia
Pickard, B. S. (2011) · Expert Reviews in Molecular Medicine · doi:10.1017/s1462399411001955 · Cited by 40
Degenhardt, F., Priebe, L., Herms, S., Mattheisen, M., Mühleisen, T. W., Meier, S., Moebus, S., Strohmaier, J., Groß, M., Breuer, R., et al. (2012) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32034 · Cited by 40
Self-citationBigdeli, T. B., Ripke, S., Bacanu, S., Lee, S., Wray, N. R., Gejman, P. V., Rietschel, M., Cichon, S., Clair, D. S., Corvin, A. P., et al. (2015) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32402 · Cited by 40
Self-citationWatmuff, B., Berkovitch, S. S., Huang, J., Iaconelli, J., Toffel, S., & Karmacharya, R. (2016) · Molecular and Cellular Neuroscience · doi:10.1016/j.mcn.2016.01.003 · Cited by 40
Chen, J., Calhoun, V. D., Perrone‐Bizzozero, N. I., Pearlson, G. D., Jing Sui （Beijing Normal University）， my correct affiliation is beijing normal university, N. Q. U. O. S. A. T., Du, Y.-X., & Liu, J. (2016) · Translational Psychiatry · doi:10.1038/tp.2016.96 · Cited by 40
Rutkowski, T. P., Schroeder, J. P., Gafford, G. M., Warren, S. T., Weinshenker, D., Caspary, T., & Mullé, J. G. (2016) · Journal of Neuroscience Research · doi:10.1002/jnr.23970 · Cited by 40
Epigenetics, genomic mutations and cognitive function
Reichenberg, A., Mill, J. S., & MacCabe, J. H. (2009) · Cognitive Neuropsychiatry · doi:10.1080/13546800902978417 · Cited by 40
Patient participation in fundamental psychiatric genomics research: a Dutch case study
Baart, I., & Abma, T. (2010) · Health Expectations · doi:10.1111/j.1369-7625.2010.00634.x · Cited by 40
Development of animal models for schizophrenia
Arguello, P. A., Markx, S., Gogos, J. A., & Karayiorgou, M. (2010) · Disease Models & Mechanisms · doi:10.1242/dmm.003996 · Cited by 40
Alpha-7 Nicotinic Receptors in Nervous System Disorders: From Function to Therapeutic Perspectives
Jaco, A. D., Bernardini, L., Rosati, J. D., & Tata, A. M. (2016) · Central Nervous System Agents in Medicinal Chemistry · doi:10.2174/1871524916666160729111446 · Cited by 40
Population-Based Risk of Psychiatric Disorders Associated With Recurrent Copy Number Variants
Vaez, M., Montalbano, S., Sánchez, X. C., Hellberg, K.-L. G., Dehkordi, S. R., Krebs, M. D., Meijsen, J. J., Shorter, J. R., Bybjerg‐Grauholm, J., Mortensen, P. B., et al. (2024) · JAMA Psychiatry · doi:10.1001/jamapsychiatry.2024.1453 · Cited by 39
Self-citation
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
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
