The DOI matches its Crossref record; 32 of the 32 references it cites were found in a registry or an index.
Cognitive Performance Among Carriers of Pathogenic Copy Number Variants: Analysis of 152,000 UK Biobank Subjects
Open accessAbstract
Background The UK Biobank is a unique resource for biomedical research, with extensive phenotypic and genetic data on half a million adults from the general population. We aimed to examine the effect of neurodevelopmental copy number variants (CNVs) on the cognitive performance of participants.Methods We used Affymetrix Power Tools and PennCNV-Affy software to analyze Affymetrix microarrays of the first 152,728 genotyped individuals. We annotated a list of 93 CNVs and compared their frequencies with control datasets. We analyzed the performance on seven cognitive tests of carriers of 12 CNVs associated with schizophrenia (n = 1087) and of carriers of another 41 neurodevelopmental CNVs (n = 484).Results The frequencies of the 93 CNVs in the Biobank subjects were remarkably similar to those among 26,628 control subjects from other datasets. Carriers of schizophrenia-associated CNVs and of the group of 41 other neurodevelopmental CNVs had impaired performance on the cognitive tests, with nine of 14 comparisons remaining statistically significant after correction for multiple testing. They also had lower educational and occupational attainment (p values between 10-7 and 10-18). The deficits in cognitive performance were modest (Z score reductions between 0.01 and 0.51), compared with individuals with schizophrenia in the Biobank (Z score reductions between 0.35 and 0.90).Conclusions This is the largest study on the cognitive phenotypes of CNVs to date. Adult carriers of neurodevelopmental CNVs from the general population have significant cognitive deficits. The UK Biobank will allow unprecedented opportunities for analysis of further phenotypic consequences of CNVs.
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
“The deletion is significantly enriched in the SJCHU (OR 1.9, 95% CI 1.5 to 2.4) and OUH CMA database (OR 3.1, 95% CI 1.6 to 5.7), compared with the deletion prevalence from the UK BIOBANK (0.36%, 544/151619)16 (table 2).”
From Estimating the effect size of the 15Q11.2 BP1–BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice (2019) · cites this paper as [16]
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
“The deletion is significantly enriched in the SJCHU (OR 1.9, 95% CI 1.5 to 2.4) and OUH CMA database (OR 3.1, 95% CI 1.6 to 5.7), compared with the deletion prevalence from the UK BIOBANK (0.36%, 544/151619)16 (table 2).”
From Estimating the effect size of the 15Q11.2 BP1–BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice (2019) · cites this paper as [16]
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
“We used data on CNV frequency from the UK BIOBANK (151 619 individuals),16 which is an unselected population.”
From Estimating the effect size of the 15Q11.2 BP1–BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice (2019) · cites this paper as [16]
Experimental — accuracy not yet measuredThe cited source says what the claim attributes to it.
In the citing paper
“The reciprocal duplication is not enriched in both the SJCHU and OUH cohorts (table 2) when using the prevalence in an unselected population provided by the UK BIOBANK (0.5%, 762/151619)16 and is therefore used as a control neutral CNV throughout the rest of this study.”
From Estimating the effect size of the 15Q11.2 BP1–BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice (2019) · cites this paper as [16]
The cited source says what the claim attributes to it.
In the citing paper
“The reciprocal duplication is not enriched in both the SJCHU and OUH cohorts (table 2) when using the prevalence in an unselected population provided by the UK BIOBANK (0.5%, 762/151619)16 and is therefore used as a control neutral CNV throughout the rest of this study.”
From Estimating the effect size of the 15Q11.2 BP1–BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice (2019) · cites this paper as [16]
The check wasn’t confident either way, so it gives no verdict — never disputed.
In the citing paper
“There is, however, no significant enrichment 1.55 (95% CI 0.97 to 2.48) if the UK BIOBANK population frequency of 0.36% is used as the control group.”
From Estimating the effect size of the 15Q11.2 BP1–BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice (2019) · cites this paper as [16]
Experimental — accuracy not yet measuredThe check wasn’t confident either way, so it gives no verdict — never disputed.
In the citing paper
“Currently, the best estimates range from 0.36% (UK BIOBANK)16 to 0.24% (Icelandic population).41”
From Estimating the effect size of the 15Q11.2 BP1–BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice (2019) · cites this paper as [16]
Experimental — accuracy not yet measuredIn the citing paper
“penetrance can be highly variable, ranging from subtle effects detectable by neuropsychological tests to mild degrees of anxiety/ADHD to co-occurrence of severe psychiatric disorders (Kendall et al., 2017; Stefansson et al., 2014; Ulfarsson et al., 2017)”
From Defining the genetic, genomic, cellular, and diagnostic architectures of psychiatric disorders (2019) · cites this paper as Kendall et al., 2017
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
Schizophrenia: A Concise Overview of Incidence, Prevalence, and Mortality
McGrath, J., Saha, S., Chant, D., & Welham, J. (2008) · Epidemiologic Reviews · doi:10.1093/epirev/mxn001 · Cited by 2,280
Structural variation in the human genome
Feuk, L., Carson, A. R., & Scherer, S. W. (2006) · Nature Reviews Genetics · doi:10.1038/nrg1767 · Cited by 2,111
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
Rare chromosomal deletions and duplications increase risk of schizophrenia
The International Schizophrenia Consortium (2008) · Nature · doi:10.1038/nature07239 · Cited by 1,475
What makes UK Biobank special?
Collins, R. (2012) · The Lancet · doi:10.1016/s0140-6736(12)60404-8 · Cited by 1,128
Intelligence and socioeconomic success: A meta-analytic review of longitudinal research
Strenze, T. (2006) · Intelligence · doi:10.1016/j.intell.2006.09.004 · Cited by 1,019
Standard occupational classification
Surveys (1990) · HMSO eBooks · Cited by 963
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 · cited 4×
“Much less is known about the effects of these CNVs in adults from the general population (9, 10).”
InfluentialSelf-citationCoe, B. P., Witherspoon, K., Rosenfeld, J. A., van Bon, B. W. M., Vulto-van Silfhout, A. T., Bosco, P., Friend, K. L., Baker, C., Buono, S., Vissers, L. E. L. M., et al. (2014) · Nature Genetics · doi:10.1038/ng.3092 · Cited by 720
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
Self-citation
Cited by
Sorted by citations
Defining the genetic, genomic, cellular, and diagnostic architectures of psychiatric disorders
Sullivan, P. F., & Geschwind, D. H. (2019) · Cell · doi:10.1016/j.cell.2019.01.015 · Cited by 452
Schizophrenia and the neurodevelopmental continuum:evidence from genomics
Owen, M. J., & O’Donovan, M. C. (2017) · World Psychiatry · doi:10.1002/wps.20440 · Cited by 339
Self-citationA large data resource of genomic copy number variation across neurodevelopmental disorders
Zarrei, M., Burton, C. L., Engchuan, W., Young, E. J., Higginbotham, E. J., MacDonald, J. R., Trost, B., Chan, A. J. S., Walker, S., Lamoureux, S., et al. (2019) · npj Genomic Medicine · doi:10.1038/s41525-019-0098-3 · Cited by 187
Li, Y., Sahakian, B. J., Kang, J., Langley, C., Zhang, W., Xie, C., Xiang, S., Yu, J., Cheng, W., & Feng, J. (2022) · Nature Aging · doi:10.1038/s43587-022-00210-2 · Cited by 185
Medical consequences of pathogenic CNVs in adults: analysis of the UK Biobank
Crawford, K., Bracher-Smith, M., Owen, D., Kendall, K. M., Rees, E., Pardiñas, A. F., Einon, M., Escott-Price, V., Walters, J. T. R., O’Donovan, M. C., et al. (2019) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2018-105477 · Cited by 175
Self-citationTaylor, M. J., Martin, J., Lu, Y., Brikell, I., Lundström, S., Larsson, H., & Lichtenstein, P. (2019) · JAMA Psychiatry · doi:10.1001/jamapsychiatry.2018.3652 · Cited by 174
Kendall, K. M., Bracher‐Smith, M., Fitzpatrick, H., Lynham, A. J., Rees, E., Escott‐Price, V., Owen, M. J., O’Donovan, M. C., Walters, J., & Kirov, G. (2019) · The British Journal of Psychiatry · doi:10.1192/bjp.2018.301 · Cited by 167
Self-citationAssociation of Genetic Liability to Psychotic Experiences With Neuropsychotic Disorders and Traits
Legge, S. E., Jones, H. J., Kendall, K. M., Pardiñas, A. F., Menzies, G. E., Bracher‐Smith, M., Escott‐Price, V., Rees, E., Davis, K. A. S., Hotopf, M. H., et al. (2019) · JAMA Psychiatry · doi:10.1001/jamapsychiatry.2019.2508 · Cited by 155
Self-citationAssociation of Rare Copy Number Variants With Risk of Depression
Kendall, K. M., Rees, E., Bracher-Smith, M., Legge, S., Riglin, L., Zammit, S., O’Donovan, M. C., Owen, M. J., Jones, I., Kirov, G., et al. (2019) · JAMA Psychiatry · doi:10.1001/jamapsychiatry.2019.0566 · Cited by 144
Self-citationAssessing the evidence for shared genetic risks across psychiatric disorders and traits
Martin, J., Taylor, M. J., & Lichtenstein, P. (2017) · Psychological Medicine · doi:10.1017/s0033291717003440 · Cited by 141
Whole genome sequencing in psychiatric disorders: the WGSPD consortium
(WGSPD), W. G. S. F. P. D., Sanders, S., Neale, B. M., Huang, H., Werling, D. M., An, J., Dong, S., Abecasis, G. R., Arguello, P. A., Blangero, J., et al. (2017) · Nature Neuroscience · doi:10.1038/s41593-017-0017-9 · Cited by 128
Chawner, S. J. R. A., Owen, M. J., Holmans, P., Raymond, F. L., Skuse, D., Hall, J., & van den Bree, M. B. M. (2019) · The Lancet Psychiatry · doi:10.1016/s2215-0366(19)30123-3 · Cited by 129
Self-citationA framework for the investigation of rare genetic disorders in neuropsychiatry
Sanders, S., Şahin, M., Hostyk, J. A., Thurm, A. E., Jacquemont, S., Avillach, P., Douard, E. A., Martin, C. L., Modi, M. E., Moreno-De-Luca, A., et al. (2019) · Nature Medicine · doi:10.1038/s41591-019-0581-5 · Cited by 131
The genetics of neuropsychiatric disorders
Bray, N. J., & O’Donovan, M. C. (2018) · Brain and Neuroscience Advances · doi:10.1177/2398212818799271 · Cited by 113
Self-citationChung, W. K., Roberts, T. P. L., Sherr, E. H., Snyder, L. G., & Spiro, J. E. (2021) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2021.01.011 · Cited by 106
Huguet, G., Schramm, C., Douard, E., Jiang, L., Labbe, A., Tihy, F., Mathonnet, G., Nizard, S., Lemyre, E., Mathieu, A., et al. (2018) · JAMA Psychiatry · doi:10.1001/jamapsychiatry.2018.0039 · Cited by 96
Is It Possible to Predict the Future in First-Episode Psychosis?
Suvisaari, J., Mantere, O., Keinänen, J., Mäntylä, T. J. S., Rikandi, E., Lindgren, M., Kieseppä, T., & Raij, T. T. (2018) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2018.00580 · Cited by 96
Writing Committee for the ENIGMA-CNV Working Group, van der Meer, D., Sønderby, I. E., Kaufmann, T., Walters, G. B., Abdellaoui, A., Ames, D., Amunts, K., Andersson, M., Armstrong, N. J., et al. (2020) · JAMA Psychiatry · doi:10.1001/jamapsychiatry.2019.3779 · Cited by 87
Self-citationThe individual and global impact of copy-number variants on complex human traits
Auwerx, C., Lepamets, M., Sadler, M. C., Patxot, M., Stojanov, M., Baud, D., Mägi, R., Esko, T., Metspalu, A., Milani, L. A., et al. (2022) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2022.02.010 · Cited by 94
Translating insights from neuropsychiatric genetics and genomics for precision psychiatry
Rees, E., & Owen, M. J. (2020) · Genome Medicine · doi:10.1186/s13073-020-00734-5 · Cited by 86
Self-citationSmajlagić, D., Lavrichenko, K., Berland, S., Helgeland, Ø., Knudsen, G. P., Vaudel, M., Haavik, J., Knappskog, P. M., Njølstad, P. R., Houge, G., et al. (2020) · European Journal of Human Genetics · doi:10.1038/s41431-020-00707-7 · Cited by 83
Genome-wide association studies in schizophrenia: Recent advances, challenges and future perspective
Dennison, C. A., Legge, S. E., Pardiñas, A. F., & Walters, J. (2019) · Schizophrenia Research · doi:10.1016/j.schres.2019.10.048 · Cited by 84
Self-citationJønch, A. E., Douard, E., Moreau, C., Van Dijck, A., Passeggeri, M., Kooy, F., Puechberty, J., Campbell, C., Sanlaville, D., Lefroy, H., et al. (2019) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2018-105879 · Cited by 75
Phenome-wide Burden of Copy-Number Variation in the UK Biobank
Aguirre, M., Rivas, M. A., & Priest, J. R. (2019) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2019.07.001 · Cited by 78
The contribution of copy number variants to psychiatric symptoms and cognitive ability
Mollon, J., Almasy, L. A., Jacquemont, S., & Glahn, D. C. (2023) · Molecular Psychiatry · doi:10.1038/s41380-023-01978-4 · Cited by 78
Effects of pathogenic CNVs on physical traits in participants of the UK Biobank
Owen, D. C., Bracher-Smith, M., Kendall, K. M., Rees, E., Einon, M., Escott‐Price, V., Owen, M. J., O’Donovan, M. C., & Kirov, G. (2018) · BMC Genomics · doi:10.1186/s12864-018-5292-7 · Cited by 74
Self-citationBeygo, J., Buiting, K., Ramsden, S., Ellis, R., Clayton‐Smith, J., & Kanber, D. (2019) · European Journal of Human Genetics · doi:10.1038/s41431-019-0435-0 · Cited by 69
Charney, A. W., Stahl, E. A., Green, E., Chen, C., Moran, J. L., Chambert, K., Belliveau, R. A., Forty, L., Gordon‐Smith, K., Lee, P. H., et al. (2018) · Biological Psychiatry · doi:10.1016/j.biopsych.2018.12.009 · Cited by 70
Sønderby, I. E., Ching, C. R. K., Thomopoulos, S. I., van der Meer, D., Sun, D., Villalon‐Reina, J. E., Agartz, I., Amunts, K., Arango, C., Armstrong, N. J., et al. (2022) · Human Brain Mapping · doi:10.1002/hbm.25354 · Cited by 67
Zhou, R., Chen, H.-W., Li, F., Zhong, Q., Huang, Y., & Wu, X. (2023) · Journal of the American Medical Directors Association · doi:10.1016/j.jamda.2023.05.023 · Cited by 69
Warland, A., Kendall, K. M., Rees, E., Kirov, G., & Caseras, X. (2019) · Molecular Psychiatry · doi:10.1038/s41380-019-0355-y · Cited by 68
Self-citationDose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia
Sønderby, I. E., Gústafsson, Ó., Doan, N. T., Hibar, D. P., Martin-Brevet, S., Abdellaoui, A., Ames, D., Amunts, K., Andersson, M., Armstrong, N. J., et al. (2020) · Molecular Psychiatry · doi:10.1038/s41380-018-0118-1 · Cited by 66
An estimation of the prevalence of genomic disorders using chromosomal microarray data
Gillentine, M. A., Lupo, P. J., Stankiewicz, P., & Schaaf, C. P. (2018) · Journal of Human Genetics · doi:10.1038/s10038-018-0451-x · Cited by 61
Reduced reproductive success is associated with selective constraint on human genes
Gardner, E. J., Neville, M. D. C., Samocha, K. E., Barclay, K., Kolk, M., Niemi, M. E. K., Kirov, G., Martin, H. C., & Hurles, M. E. (2022) · Nature · doi:10.1038/s41586-022-04549-9 · Cited by 72
Self-citationGenetics of Schizophrenia: Ready to Translate?
Foley, C., Corvin, A. P., & Nakagome, S. (2017) · Current Psychiatry Reports · doi:10.1007/s11920-017-0807-5 · Cited by 61
Influences of rare copy-number variation on human complex traits
Hujoel, M. L. A., Sherman, M. A., Barton, A. R., Mukamel, R. E., Sankaran, V. G., Terao, C., & Loh, P. (2022) · Cell · doi:10.1016/j.cell.2022.09.028 · Cited by 59
Rare copy-number variants as modulators of common disease susceptibility
Auwerx, C., Lepamets, M., Sadler, M. C., Tesio, N., Ojavee, S. E., Clark, C. J., Mägi, R., Esko, T., Metspalu, A., Milani, L. A., et al. (2024) · Genome Medicine · doi:10.1186/s13073-023-01265-5 · Cited by 53
Underwood, J. F. G., Kendall, K. M., Berrett, J., Lewis, C., Anney, R., van den Bree, M. B. M., & Hall, J. (2019) · The British Journal of Psychiatry · doi:10.1192/bjp.2019.30 · Cited by 50
Self-citationFan, C. C., Loughnan, R. J., Wilson, S., Hewitt, J. K., ABCD Genetic Working Group, Arpana Agrawal, A., Dowling, G. J., Garavan, H., LeBlanc, K. H., Neale, M. C., et al. (2023) · Behavior Genetics · doi:10.1007/s10519-023-10143-0 · Cited by 53
Self-citationBrcic, L., Underwood, J. F. G., Kendall, K. M., Caseras, X., Kirov, G., & Davies, W. (2020) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2019-106676 · Cited by 46
Self-citationBirnbaum, R., Mahjani, B., Loos, R. J. F., & Sharp, A. J. (2022) · JAMA Psychiatry · doi:10.1001/jamapsychiatry.2021.4080 · Cited by 48
Raabe, F. J., Galinski, S., Papiol, S., Falkai, P., Schmitt, A., & Rossner, M. J. (2018) · Schizophrenia · doi:10.1038/s41537-018-0066-4 · Cited by 48
the Emory 3q29 Project, Pollak, R. M., Murphy, M. M., Epstein, M. P., Zwick, M. E., Klaiman, C., Saulnier, C. A., & Mullé, J. G. (2019) · Molecular Autism · doi:10.1186/s13229-019-0281-5 · Cited by 42
Alexander‐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
Heterogeneous associations of multiplexed environmental factors and multidimensional aging metrics
Pu, F., Chen, W., Li, C., Fu, J., Gao, W., Ma, C., Cao, X., Zhang, L., Hao, M., Zhou, J., et al. (2024) · Nature Communications · doi:10.1038/s41467-024-49283-0 · Cited by 39
Thygesen, J. H., Wolfe, K., McQuillin, A., Viñas‐Jornet, M., Baena, N., Brison, N., D'Haenens, G., Esteba‐Castillo, S., Gabau, E., Ribas‐Vidal, N., et al. (2018) · The British Journal of Psychiatry · doi:10.1192/bjp.2017.65 · Cited by 39
Riggs, E. R., Nelson, T. H., Merz, A., Ackley, T., Bunke, B. P., Collins, C. D., Collinson, M. N., Fan, Y., Goodenberger, M. L., Golden, D. M., et al. (2018) · Human Mutation · doi:10.1002/humu.23610 · Cited by 38
1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans
Sønderby, I. E., van der Meer, D., Moreau, C. A., Kaufmann, T., Walters, G. B., Ellegaard, M., Abdellaoui, A., Ames, D. J., Amunts, K., Andersson, M., et al. (2021) · Translational Psychiatry · doi:10.1038/s41398-021-01213-0 · Cited by 39
D’Abate, L., Walker, S., Yuen, R. K. C., Tammimies, K., Buchanan, J. A., Davies, R., Thiruvahindrapuram, B., Wei, J., Brian, J. A., Bryson, S. E., et al. (2019) · Nature Communications · doi:10.1038/s41467-019-13380-2 · Cited by 39
Rare Copy Number Variants Are Associated With Poorer Cognition in Schizophrenia
Hubbard, L., Rees, E., Morris, D. W., Lynham, A. J., Richards, A. L., Pardiñas, A. F., Legge, S. E., Harold, D. H., Zammit, S., Corvin, A. P., et al. (2020) · Biological Psychiatry · doi:10.1016/j.biopsych.2020.11.025 · Cited by 37
Self-citationFoo, H., Thalamuthu, A., Jiang, J., Koch, F. C., Mather, K. A., Wen, W. X., & Sachdev, P. S. (2021) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2021.758817 · Cited by 35
Copy number variation and neuropsychiatric problems in females and males in the general population
Martin, J., Tammimies, K., Karlsson, R., Lu, Y., Larsson, H., Lichtenstein, P., & Magnusson, P. K. E. (2018) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32685 · Cited by 34
Dennison, C. A., Legge, S. E., Bracher‐Smith, M., Menzies, G. E., Escott‐Price, V., Smıth, D. J., Doherty, A., Owen, M. J., O’Donovan, M. C., & Walters, J. (2021) · PLoS ONE · doi:10.1371/journal.pone.0249189 · Cited by 37
Self-citationGuyatt, A. L., Stergiakouli, E., Martin, J., Walters, J., O’Donovan, M. C., Owen, M. J., Thapar, A., Kirov, G., Rodrı́guez, S., Rai, D., et al. (2018) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32637 · Cited by 35
Self-citationHiramoto, T., Sumiyoshi, A., Yamauchi, T., Tanigaki, K., Shi, Q., Kang, G., Ryoke, R., Nonaka, H., Enomoto, S., Izumi, T., et al. (2021) · Molecular Psychiatry · doi:10.1038/s41380-021-01318-4 · Cited by 32
García‐González, P., de Rojas, I., Moreno–Grau, S., Montrreal, L., Puerta, R., Alarcón‐Martín, E., Quintela, I., Orellana, A., Andrade, V., Adami, P. V. M., et al. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms24020898 · Cited by 32
Polygenic risk for schizophrenia and season of birth within the UK Biobank cohort
Escott‐Price, V., Smıth, D. J., Kendall, K. M., Ward, J., Kirov, G., Owen, M. J., Walters, J., & O’Donovan, M. C. (2018) · Psychological Medicine · doi:10.1017/s0033291718000454 · Cited by 32
Self-citationEscott‐Price, V., Bracher‐Smith, M., Menzies, G. E., Walters, J., Kirov, G., Owen, M. J., & O’Donovan, M. C. (2019) · Molecular Psychiatry · doi:10.1038/s41380-018-0328-6 · Cited by 30
Self-citationNakatochi, M., Kushima, I., & Ozaki, N. (2020) · Journal of Human Genetics · doi:10.1038/s10038-020-00838-1 · Cited by 35
Reproductive fitness and genetic risk of psychiatric disorders in the general population
Mullins, N., Ingason, A., Porter, H. F., Euesden, J., Gillett, A. C., Ólafsson, S., Gudbjartsson, D. F., Lewis, C. M., Sigurðsson, E., Sæmundsen, E., et al. (2017) · Nature Communications · doi:10.1038/ncomms15833 · Cited by 28
Williams, S. G., Nakev, A., Guo, H., Frain, S., Tenin, G., Liakhovitskaia, A., Saha, P., Priest, J. R., Hentges, K. E., & Keavney, B. D. (2020) · European Journal of Human Genetics · doi:10.1038/s41431-020-0626-8 · Cited by 29
Genetic copy number variants, cognition and psychosis: a meta-analysis and a family study
Thygesen, J. H., Presman, A., Harju‐Seppänen, J., Irizar, H., Jones, R., Kuchenbaecker, K. B., Lin, K., Alizadeh, B. Z., Austin-Zimmerman, I., Bartels‐Velthuis, A. A., et al. (2020) · Molecular Psychiatry · doi:10.1038/s41380-020-0820-7 · Cited by 31
O’Connell, K. S., Sønderby, I. E., Frei, O., van der Meer, D., Athanasiu, L., Smeland, O. B., Alnæs, D., Kaufmann, T., Westlye, L. T., Steen, V. M., et al. (2021) · Psychological Medicine · doi:10.1017/s0033291721000179 · Cited by 26
Clinical evaluation of patients with a neuropsychiatric risk copy number variant
Chawner, S. J. R. A., Watson, C. J., & Owen, M. J. (2021) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2020.12.012 · Cited by 25
Self-citationGenetic Heterogeneity Shapes Brain Connectivity in Psychiatry
Moreau, C. A., Harvey, A., Kumar, K., Huguet, G., Urchs, S. G. W., Douard, E. A., Schultz, L. M., Sharmarke, H., Jizi, K., Martin, C.-O., et al. (2022) · Biological Psychiatry · doi:10.1016/j.biopsych.2022.08.024 · Cited by 24
Self-citationChawner, S. J. R. A., Evans, A., Wolstencroft, J., Chawner, S. J. R. A., Hall, J., van den Bree, M. B. M., Owen, M. J., Skuse, D., Raymond, F. L., Williams, N. M., et al. (2023) · Translational Psychiatry · doi:10.1038/s41398-022-02296-z · Cited by 25
Self-citationCopy number variants (CNVs): a powerful tool for iPSC-based modelling of ASD
Drakulić, D., Djurovic, S., Syed, Y. A., Trattaro, S., Caporale, N., Falk, A., Ofir, R., Heine, V. M., Chawner, S. J. R. A., Moreno, A. R., et al. (2020) · Molecular Autism · doi:10.1186/s13229-020-00343-4 · Cited by 24
Sisk, L. M., Rapuano, K. M., Conley, M. I., Greene, A. S., Horien, C. L., Rosenberg, M. D., Scheinost, D., Constable, R. T., Glatt, C. E., Casey, B. J., et al. (2021) · Journal of Neuroscience Research · doi:10.1002/jnr.24946 · Cited by 24
Jadhav, B., Garg, P., van Vugt, J. J. F. A., Ibáñez, K., Gagliardi, D., Lee, W., Shadrina, M., Mokveld, T., Dolzhenko, E., Martin-Trujillo, A., et al. (2024) · Nature Genetics · doi:10.1038/s41588-024-01917-1 · Cited by 22
Genetic testing in children and adolescents with intellectual disability
Bass, N. J., & Skuse, D. (2018) · Current Opinion in Psychiatry · doi:10.1097/yco.0000000000000456 · Cited by 22
Brain functional connectivity mirrors genetic pleiotropy in psychiatric conditions
Moreau, C. A., Kumar, K., Harvey, A., Huguet, G., Urchs, S. G. W., Schultz, L. M., Sharmarke, H., Jizi, K., Martin, C.-O., Younis, N., et al. (2022) · Brain · doi:10.1093/brain/awac315 · Cited by 22
Self-citationLinli, Z., Rolls, E. T., Zhao, W. D., Kang, J., Feng, J., & Guo, S. (2022) · Progress in Neuro-Psychopharmacology and Biological Psychiatry · doi:10.1016/j.pnpbp.2022.110698 · Cited by 21
Ringin, E., Dunstan, D. W., McIntyre, R. S., Owen, N. G., Berk, M., Rossell, S. L., Hallgren, M. Å., & Rheenen, T. E. V. (2023) · Mental health and physical activity · doi:10.1016/j.mhpa.2023.100514 · Cited by 21
Silva, A. I., Ehrhart, F., Ulfarsson, M. O., Stefánsson, H., Stefánsson, K., Wilkinson, L. S., Hall, J., & Linden, D. E. J. (2022) · Biological Psychiatry · doi:10.1016/j.biopsych.2022.03.018 · Cited by 21
Gene copy number variation and pediatric mental health/neurodevelopment in a general population
Zarrei, M., Burton, C. L., Engchuan, W., Higginbotham, E. J., Wei, J., Shaikh, S., Roslin, N. M., MacDonald, J. R., Pellecchia, G., Nalpathamkalam, T., et al. (2023) · Human Molecular Genetics · doi:10.1093/hmg/ddad074 · Cited by 19
Vorstman, J. A. S., & Scherer, S. W. (2021) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2020.12.017 · Cited by 20
Mechanisms of copy number variants in neuropsychiatric disorders: From genes to therapeutics
Forrest, M. P., & Penzes, P. (2023) · Current Opinion in Neurobiology · doi:10.1016/j.conb.2023.102750 · Cited by 19
Liu, Y., Feng, H., Du, J., Yang, L., Xue, H., Zhang, J., Liang, Y. Y., & Liu, Y. (2024) · Psychiatry and Clinical Neurosciences · doi:10.1111/pcn.13671 · Cited by 18
The pleiotropic spectrum of proximal 16p11.2 CNVs
Auwerx, C., Kutalik, Z., & Reymond, A. (2024) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2024.08.015 · Cited by 19
The psychiatric phenotypes of 1q21 distal deletion and duplication
Linden, S. C., Watson, C. J., Smith, J., Chawner, S. J. R. A., Lancaster, T. M., Evans, F., Williams, N. M., Skuse, D., Raymond, F. L., Hall, J., et al. (2021) · Translational Psychiatry · doi:10.1038/s41398-021-01226-9 · Cited by 17
Self-citationSaarentaus, E., Havulinna, A. S., Mars, N., Ahola‐Olli, A., Kiiskinen, T., Partanen, J., Ruotsalainen, S., Kurki, M., Urpa, L., Chen, L., et al. (2021) · Molecular Psychiatry · doi:10.1038/s41380-021-01026-z · Cited by 18
Silva, A. I., Kirov, G., Kendall, K. M., Bracher-Smith, M., Wilkinson, L. S., Hall, J., Ulfarsson, M. O., Walters, G. B., Stefánsson, H., Stefánsson, K., et al. (2021) · Biological Psychiatry · doi:10.1016/j.biopsych.2021.02.969 · Cited by 18
Self-citationFoley, C., Heron, E. A., Harold, D. H., Walters, J., Owen, M. J., O’Donovan, M. C., Sebat, J. L., Kelleher, E., Mooney, C., Durand, A., et al. (2020) · The British Journal of Psychiatry · doi:10.1192/bjp.2019.262 · Cited by 18
Self-citationPathogenic recurrent copy number variants in 7,078 pregnancies via chromosomal microarray analysis
Kang, H., Chen, Y., Wang, L., Gao, C., Li, X., & Hu, Y. (2023) · Journal of Perinatal Medicine · doi:10.1515/jpm-2022-0580 · Cited by 16
Ringin, E., Dunstan, D. W., McIntyre, R. S., Berk, M., Owen, N. G., Rossell, S. L., & Rheenen, T. E. V. (2022) · Neuropsychopharmacology · doi:10.1038/s41386-022-01471-6 · Cited by 16
Du, J., Koch, F. C., Xia, A., Jiang, J., Crawford, J. D., Lam, B. C. P., Thalamuthu, A., Lee, T., Kochan, N. A., Fawns‐Ritchie, C., et al. (2021) · NeuroImage · doi:10.1016/j.neuroimage.2021.118381 · Cited by 15
RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes
Brownstein, C. A., Smith, R. S., Rodan, L. H., Gorman, M., Hojlo, M. A., Garvey, E. A., Li, J., Cabral, K., Bowen, J. J., Rao, A. S., et al. (2021) · Molecular Psychiatry · doi:10.1038/s41380-021-01035-y · Cited by 17
Ultrarare Coding Variants and Cognitive Function in Schizophrenia
Creeth, H., Rees, E., Legge, S. E., Dennison, C. A., Holmans, P., Walters, J., O’Donovan, M. C., & Owen, M. J. (2022) · JAMA Psychiatry · doi:10.1001/jamapsychiatry.2022.2289 · Cited by 16
Self-citationLynham, A. J., Knott, S., Underwood, J. F. G., Hubbard, L., Agha, S. S., Bisson, J. I., van den Bree, M. B. M., Chawner, S. J. R. A., Craddock, N. J., O’Donovan, M. C., et al. (2023) · BJPsych Open · doi:10.1192/bjo.2022.636 · Cited by 16
Self-citationCaseras, X., Kirov, G., Kendall, K. M., Rees, E., Legge, S. E., Bracher‐Smith, M., Escott‐Price, V., & Murphy, K. (2020) · The British Journal of Psychiatry · doi:10.1192/bjp.2020.139 · Cited by 13
Self-citationKlinefelter syndrome or testicular dysgenesis: Genetics, endocrinology, and neuropsychology
Skakkebaek, A. H., Wallentin, M., & Gravholt, C. H. (2021) · Handbook of clinical neurology · doi:10.1016/b978-0-12-820683-6.00032-4 · Cited by 13
The genetics of cognition in schizophrenia
Owen, M. J., & O’Donovan, M. C. (2024) · Genomic psychiatry : · doi:10.61373/gp024i.0040 · Cited by 12
Self-citationPsychopathology in adults with copy number variants
Adams, R., Baird, A., Smith, J., Williams, N. M., van den Bree, M. B. M., Linden, D. E. J., Owen, M. J., Hall, J., & Linden, S. C. (2022) · Psychological Medicine · doi:10.1017/s0033291721005201 · Cited by 12
Self-citationMolloy, C. J., Quigley, C., McNicholas, Á., Lisanti, L., & Gallagher, L. (2023) · Translational Psychiatry · doi:10.1038/s41398-023-02421-6 · Cited by 14
Donnelly, N. A., Cunningham, A. C., Salas, S. M., Bracher‐Smith, M., Chawner, S. J. R. A., Štochl, J., Ford, T. J., Raymond, F. L., Escott‐Price, V., & van den Bree, M. B. M. (2023) · Molecular Autism · doi:10.1186/s13229-023-00549-2 · Cited by 12
Self-citationRingin, E., Dunstan, D. W., Meyer, D., McIntyre, R. S., Owen, N. G., Berk, M., Hallgren, M. Å., Rossell, S. L., & Rheenen, T. E. V. (2024) · Psychological Medicine · doi:10.1017/s0033291724000722 · Cited by 11
Cognitive Genomics: Recent Advances and Current Challenges
Fitzgerald, J. C., Morris, D. W., & Donohoe, G. J. (2020) · Current Psychiatry Reports · doi:10.1007/s11920-019-1125-x · Cited by 11
Vainieri, I., Martin, J., Rommel, A., Asherson, P. J., Banaschewski, T., Buitelaar, J. K., Cormand, B., Crosbie, J., Faraone, S. V., Franke, B., et al. (2021) · Psychological Medicine · doi:10.1017/s0033291720005218 · Cited by 11
Rammos, A., Kirov, G., Hubbard, L., Walters, J., Holmans, P., Owen, M. J., O’Donovan, M. C., & Rees, E. (2023) · Molecular Psychiatry · doi:10.1038/s41380-023-02013-2 · Cited by 11
Self-citationEvaluation of the Genetic Association Between Adult Obesity and Neuropsychiatric Disease
Stahel, P., Nahmias, A., Sud, S. K., Lee, S. J., Pucci, A. B. F., Yousseif, A., Youseff, A., Jackson, T. D., Urbach, D. R., Okrainec, A., et al. (2019) · Diabetes · doi:10.2337/db18-1254 · Cited by 12
Metadata
- Authors
- Kendall, K. M., Rees, E., Escott-Price, V., Einon, M., Thomas, R., Hewitt, J., O’Donovan, M. C., Owen, M. J., Walters, J. T. R., & Kirov, G.
- Affiliations
- Cardiff University (GB)
- University Hospital Llandough (GB)
- Corresponding author
- Kirov, George
- ORCID
- Venue
- Biological Psychiatry
- Publisher
- Elsevier BV
- Published
- 2017-07
- Volume
- 82
- Issue
- 2
- Pages
- 103-110
- ISSN
- 0006-3223 (ISSN-L)
- OpenAlex
- W2513914028
- Cited by
- 226
- References
- 32
- Citations by year
- 2026: 18 · 2025: 14 · 2024: 23 · 2023: 29 · 2022: 36 · 2021: 30 · 2020: 18 · 2019: 31 · 2018: 19 · 2017: 8
- FWCI
- 15.60
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Biological Psychiatry (publishedVersion)
- PubMed (publishedVersion)
- ORCA Online Research @Cardiff (Cardiff University) (acceptedVersion)
- ORCA Online Research @Cardiff (Cardiff University) (submittedVersion, cc-by-nc-nd)
- Newcastle University ePrints (Newcastle Univesity)
- Funders
- Wellcome Trust (201171/Z/16/Z)
- Cardiff University (MR/L010305/1, G0800509)
- Medical Research Council (MR/L023784/2, MR/P005748/1, MR/L010305/1, G0800509, MR/L023784/1, No. MR/L010305/1)
- 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
- copy number variation, neurodevelopmental disorders, cognitive performance, schizophrenia, educational attainment, occupational attainment, UK Biobank, cognitive impairment
- MeSH terms
- Adult, Aged, Female, United Kingdom, Humans, Male, Middle Aged, Neuropsychological Tests, Schizophrenia, Biological Specimen Banks, DNA Copy Number Variations, Cognitive Dysfunction, Neurodevelopmental Disorders
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
