The DOI matches its Crossref record; 27 of the 28 references it cites were found in a registry or an index.
The Penetrance of Copy Number Variations for Schizophrenia and Developmental Delay
Open accessAbstract
BACKGROUND: Several recurrent copy number variants (CNVs) have been shown to increase the risk of developing schizophrenia (SCZ), developmental delay (DD), autism spectrum disorders (ASD), and various congenital malformations (CM). Their penetrance for SCZ has been estimated to be modest. However, comparisons between their penetrance for SCZ or DD/ASD/CM, or estimates of the total penetrance for any of these disorders have not yet been made. METHODS: We use data from the largest available studies on SCZ and DD/ASD/CM, including a new sample of 6882 cases and 6316 controls, to estimate the frequencies of 70 implicated CNVs in carriers with these disorders, healthy control subjects, and the general population. On the basis of these frequencies, we estimate their penetrance. We also estimate the strength of the selection pressure against CNVs and correlate this against their overall penetrance. RESULTS: The rates of nearly all CNVs are higher in DD/ASD/CM compared with SCZ. The penetrance of CNVs is at least several times higher for the development of a disorder from the group of DD/ASD/CM. The overall penetrance of SCZ-associated CNVs for developing any disorder is high, ranging between 10.6% and 100%. CONCLUSIONS: CNVs associated with SCZ have high pathogenicity. The majority of the increased risk conferred by CNVs is toward the development of an earlier-onset disorder, such as DD/ASD/CM, rather than SCZ. The penetrance of CNVs correlates strongly with their selection coefficients. The improved estimates of penetrance will provide crucial information for genetic counselling.
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?
In the citing paper
“Carriers of the 16p11.2duplication also have a high probability of developing SZ”
From Neural circuits regulating prosocial behaviors (2023) · cites this paper as [136]
In the citing paper
“unlike individuals with a 22q11.2deletion, only a small percentage of these subjects also present with intellectual disabilities [136,137].”
From Neural circuits regulating prosocial behaviors (2023) · cites this paper as [136]
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
Probable Inference, the Law of Succession, and Statistical Inference
Wilson, E. B. (1927) · Journal of the American Statistical Association · doi:10.1080/01621459.1927.10502953 · Cited by 4,476
Comprehensive Textbook of Psychiatry
Freedman, A. M., & Kaplan, H. I. (1967) · The American Journal of the Medical Sciences · doi:10.1097/00000441-196712000-00052 · Cited by 3,825
Baird, G., Simonoff, E., Pickles, A., Chandler, S., Loucas, T., Meldrum, D., & Charman, T. (2006) · The Lancet · doi:10.1016/s0140-6736(06)69041-7 · Cited by 2,104
Burnside, R. D. (2015) · Cytogenetic and Genome Research · doi:10.1159/000438708 · Cited by 1,964
Large recurrent microdeletions associated with schizophrenia.
GROUP, Stefansson, H., Rujescu, D., Cichon, S., Pietiläinen, O. P. H., Ingason, A., Steinberg, S., Fossdal, R., Sigurdsson, E., Sigmundsson, T., et al. (2008) · Nature · doi:10.1038/nature07229 · Cited by 1,745
Kaplan & Sadock's Comprehensive Textbook of Psychiatry
Sadock, B. J., & Sadock, V. A. (2000) · Cited by 1,523
Rare chromosomal deletions and duplications increase risk of schizophrenia
The International Schizophrenia Consortium (2008) · Nature · doi:10.1038/nature07239 · Cited by 1,475
Kaplan and Sadock's Comprehensive Text Book of Psychiatry
Saldanha, D. (2005) · Medical Journal Armed Forces India · doi:10.1016/s0377-1237(05)80189-3 · Cited by 1,164
Prevalence of autism-spectrum conditions: UK school-based population study
Baron-Cohen, S., Scott, F. J., Allison, C., Williams, J., Bolton, P., Matthews, F. E., & Brayne, C. (2009) · British Journal of Psychiatry · doi:10.1192/bjp.bp.108.059345 · Cited by 918
CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics
Malhotra, D., & Sebat, J. (2012) · Cell · doi:10.1016/j.cell.2012.02.039 · Cited by 854
Cited by
Sorted by citations
Owen, M. J., Sawa, A., & Mortensen, P. B. (2016) · The Lancet · doi:10.1016/s0140-6736(15)01121-6 · Cited by 1,870
Self-citationKahn, R. S., Sommer, I. E., Murray, R. M., Meyer‐Lindenberg, A., Weinberger, D. R., Cannon, T. D., O’Donovan, M. C., Correll, C. U., Kane, J. M., van Os, J., et al. (2015) · Nature Reviews Disease Primers · doi:10.1038/nrdp.2015.67 · Cited by 1,163
Self-citationGene expression elucidates functional impact of polygenic risk for schizophrenia
Fromer, M., Roussos, P., Sieberts, S. K., Johnson, J. S., Kavanagh, D. H., Perumal, T. M., Ruderfer, D. M., Oh, E. C., Topol, A., Shah, H. R., et al. (2016) · Nature Neuroscience · doi:10.1038/nn.4399 · Cited by 1,091
CNVs conferring risk of autism or schizophrenia affect cognition in controls
Stefansson, H., Meyer-Lindenberg, A., Steinberg, S., Magnusdottir, B., Morgen, K., Arnarsdottir, S., Bjornsdottir, G., Walters, G. B., Jonsdottir, G. A., Doyle, O. M., et al. (2014) · Nature · doi:10.1038/nature12818 · Cited by 699
The dysconnection hypothesis (2016)
Friston, K., Brown, H. R., Siemerkus, J., & Stephan, K. E. (2016) · Schizophrenia Research · doi:10.1016/j.schres.2016.07.014 · Cited by 561
Neurodevelopmental disorders—the history and future of a diagnosticconcept
Morris-Rosendahl, D. J., & Crocq, M. (2020) · Dialogues in Clinical Neuroscience · doi:10.31887/dcns.2020.22.1/macrocq · Cited by 607
Genetic insights into the neurodevelopmental origins of schizophrenia
Birnbaum, R., & Weinberger, D. R. (2017) · Nature reviews. Neuroscience · doi:10.1038/nrn.2017.125 · Cited by 509
The insula: an underestimated brain area in clinical neuroscience, psychiatry, and neurology
Namkung, H., Kim, S.-H., & Sawa, A. (2017) · Trends in Neurosciences · doi:10.1016/j.tins.2017.02.002 · Cited by 462
Study, S. S., Singh, T., Study, I., Study, D., UK10 K Consortium, Kurki, M. I., Curtis, D., Purcell, S. M., Crooks, L., McRae, J., et al. (2016) · Nature Neuroscience · doi:10.1038/nn.4267 · Cited by 452
Self-citationAnalysis of copy number variations at 15 schizophrenia-associated loci
Rees, E., Walters, J. T. R., Georgieva, L., Isles, A. R., Chambert, K. D., Richards, A. L., Mahoney-Davies, G., Legge, S. E., Moran, J. L., McCarroll, S. A., et al. (2014) · British Journal of Psychiatry · doi:10.1192/bjp.bp.113.131052 · Cited by 443
Self-citationQuantifying prion disease penetrance using large population control cohorts
Minikel, E. V., Vallabh, S. M., Lek, M., Estrada, K., Samocha, K. E., Sathirapongsasuti, J. F., McLean, C. Y., Tung, J. Y., Yu, L. P. C., Gambetti, P., et al. (2016) · Science Translational Medicine · doi:10.1126/scitranslmed.aad5169 · Cited by 442
Self-citationSchizophrenia 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-citationGenetic Relationships Between Schizophrenia, Bipolar Disorder, and Schizoaffective Disorder
Cardno, A. G., & Owen, M. J. (2014) · Schizophrenia Bulletin · doi:10.1093/schbul/sbu016 · Cited by 294
Self-citationThe genetics of bipolar disorder
Gordovez, F. J. A., & McMahon, F. J. (2020) · Molecular Psychiatry · doi:10.1038/s41380-019-0634-7 · Cited by 284
Singh, T., Walters, J. T. R., Johnstone, M., Curtis, D., Suvisaari, J., Torniainen, M., Rees, E., Iyegbe, C., Blackwood, D., McIntosh, A. M., et al. (2017) · Nature Genetics · doi:10.1038/ng.3903 · Cited by 231
Self-citationDoherty, J. L., & Owen, M. J. (2014) · Genome Medicine · doi:10.1186/gm546 · Cited by 228
Self-citationKendall, 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. (2017) · Biological Psychiatry · doi:10.1016/j.biopsych.2016.08.014 · Cited by 226
Self-citationSchork, A. J., Won, H., Appadurai, V., Nudel, R., Gandal, M., Delaneau, O., Revsbech Christiansen, M., Hougaard, D. M., Bækved-Hansen, M., Bybjerg-Grauholm, J., et al. (2019) · Nature Neuroscience · doi:10.1038/s41593-018-0320-0 · Cited by 223
Dosage sensitivity is a major determinant of human copy number variant pathogenicity
Rice, A. M., & McLysaght, A. (2017) · Nature Communications · doi:10.1038/ncomms14366 · Cited by 193
Copy number variation in bipolar disorder
Green, E., Rees, E., Walters, J., Gordon‐Smith, K., Forty, L., Grozeva, D., Moran, J. L., Sklar, P. B., Ripke, S., Chambert, K. D., et al. (2015) · Molecular Psychiatry · doi:10.1038/mp.2014.174 · Cited by 183
Self-citationRecent genetic findings in schizophrenia and their therapeutic relevance
Harrison, P. J. (2014) · Journal of Psychopharmacology · doi:10.1177/0269881114553647 · Cited by 201
Progress in the genetics of autism spectrum disorder
Woodbury‐Smith, M., & Scherer, S. W. (2018) · Developmental Medicine & Child Neurology · doi:10.1111/dmcn.13717 · Cited by 187
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-citationAnalysis of Intellectual Disability Copy Number Variants for Association With Schizophrenia
Rees, E., Kendall, K., Pardiñas, A. F., Legge, S. E., Pocklington, A., Escott-Price, V., MacCabe, J. H., Collier, D. A., Holmans, P., O’Donovan, M. C., et al. (2016) · JAMA Psychiatry · doi:10.1001/jamapsychiatry.2016.1831 · Cited by 162
Self-citationGenomics of schizophrenia: time to consider the gut microbiome?
Dinan, T. G., Borre, Y. E., & Cryan, J. F. (2014) · Molecular Psychiatry · doi:10.1038/mp.2014.93 · Cited by 177
CNVs in neuropsychiatric disorders
Kirov, G. (2015) · Human Molecular Genetics · doi:10.1093/hmg/ddv253 · Cited by 159
Self-citationThapar, A., & Rutter, M. L. (2020) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-020-04685-z · 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-citationPleiotropy and Cross-Disorder Genetics Among Psychiatric Disorders
Lee, P. H., Feng, Y. A., & Smoller, J. W. (2020) · Biological Psychiatry · doi:10.1016/j.biopsych.2020.09.026 · Cited by 165
The implications of the shared genetics of psychiatric disorders
O'Donovan, M. C., & Owen, M. J. (2016) · Nature Medicine · doi:10.1038/nm.4196 · Cited by 157
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-citationCommon alleles contribute to schizophrenia in CNV carriers
Tansey, K. E., Rees, E., Linden, D. E., Ripke, S., Chambert, K. D., Moran, J. L., McCarroll, S. A., Holmans, P., Kirov, G., Walters, J., et al. (2016) · Molecular Psychiatry · doi:10.1038/mp.2015.143 · Cited by 132
Self-citationGenetic architecture of schizophrenia: a review of major advancements
Legge, S. E., Santoro, M. L., Periyasamy, S., Okewole, A., Arsalan, A., & Kowalec, K. (2021) · Psychological Medicine · doi:10.1017/s0033291720005334 · Cited by 156
Self-citationOlsen, L., Sparsø, T., Weinsheimer, S., Santos, M. B. Q. D., Mazin, W., Rosengren, A., Sánchez, X. C., Hoeffding, L. K., Schmock, H., Bækvad‐Hansen, M., et al. (2018) · The Lancet Psychiatry · doi:10.1016/s2215-0366(18)30168-8 · Cited by 137
High-resolution copy number variation analysis of schizophrenia in Japan
Kushima, I., Aleksić, B., Nakatochi, M., Shimamura, T., Shiino, T., Yoshimi, A., Kimura, H., Takasaki, Y., Wang, C., Xing, J., et al. (2016) · Molecular Psychiatry · doi:10.1038/mp.2016.88 · Cited by 130
Millan, M. J., Goodwin, G. M., Meyer-Lindenberg, A., & Ove Ögren, S. (2015) · European Neuropsychopharmacology · doi:10.1016/j.euroneuro.2015.01.016 · Cited by 132
Genetic Associations between Voltage-Gated Calcium Channels and Psychiatric Disorders
Andrade, A., Brennecke, A., Mallat, S., Brown, J., Gomez-Rivadeneira, J., Czepiel, N., & Londrigan, L. (2019) · International Journal of Molecular Sciences · doi:10.3390/ijms20143537 · Cited by 131
Rees, E., Walters, J., Chambert, K., O'Dushlaine, C., Szatkiewicz, J., Richards, A. L., Georgieva, L., Mahoney‐Davies, G., Legge, S. E., Moran, J. L., et al. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt540 · Cited by 131
Self-citationGenetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion
Cleynen, I., Engchuan, W., Hestand, M. S., Heung, T., Holleman, A. M., Johnston, H. R., Monfeuga, T., McDonald‐McGinn, D. M., Gur, R. E., Morrow, B. E., et al. (2020) · Molecular Psychiatry · doi:10.1038/s41380-020-0654-3 · Cited by 129
Self-citationTorres, F., Barbosa, M., & Maciel, P. (2015) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2015-103366 · Cited by 126
A 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
Munawar, N., Ahsan, K., Muhammad, K., Ahmad, A., Anwar, M. A., Shah, I., Ameri, A. A., & Mughairbi, F. A. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22147671 · Cited by 107
Copy number variation and neuropsychiatric illness
Rees, E., & Kirov, G. (2021) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2021.02.014 · Cited by 106
Self-citationIsles, A. R., Ingason, A., Lowther, C., Walters, J., Gawlik, M., Stöber, G., Rees, E., Martin, J., Little, R. B., Potter, H. G., et al. (2016) · PLoS Genetics · doi:10.1371/journal.pgen.1005993 · Cited by 102
Self-citationHayashi-Takagi, A., Araki, Y., Nakamura, M., Vollrath, B., Duron, S. G., Yan, Z., Kasai, H., Huganir, R. L., Campbell, D. A., & Sawa, A. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1321109111 · Cited by 101
Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome
Bassett, A. S., Lowther, C., Merico, D., Costain, G., Chow, E. W. C., van Amelsvoort, T., McDonald‐McGinn, D. M., Gur, R. E., Swillen, A., van den Bree, M. B. M., et al. (2017) · American Journal of Psychiatry · doi:10.1176/appi.ajp.2017.16121417 · Cited by 103
Self-citationIdentification and functional characterization of rare SHANK2 variants in schizophrenia
Peykov, S. Z., Berkel, S., Schoen, M., Weiss, K., Degenhardt, F., Strohmaier, J., Weiss, B., Proepper, C., Schratt, G. M., Nöthen, M. M., et al. (2015) · Molecular Psychiatry · doi:10.1038/mp.2014.172 · Cited by 100
Mok, K. Y., Sheerin, U., Simón‐Sánchez, J., Salaka, A. S., Chester, L. A., Escott‐Price, V., Mantripragada, K. K., Doherty, K. A., Noyce, A. J., Mencacci, N. E., et al. (2016) · The Lancet Neurology · doi:10.1016/s1474-4422(16)00071-5 · Cited by 91
Self-citationSchizophrenia genetics: emerging themes for a complex disorder
Kavanagh, D. H., Tansey, K. E., O’Donovan, M. C., & Owen, M. J. (2014) · Molecular Psychiatry · doi:10.1038/mp.2014.148 · Cited by 93
Self-citationDe novo CNVs in bipolar affective disorder and schizophrenia
Georgieva, L., Rees, E., Moran, J. L., Chambert, K. D., Milanova, V. K., Craddock, N. J., Purcell, S., Sklar, P. B., McCarroll, S. A., Holmans, P., et al. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddu379 · Cited by 87
Self-citationTranslating 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-citationOhnologs are overrepresented in pathogenic copy number mutations
McLysaght, A., Makino, T., Grayton, H. M., Tropeano, M., Mitchell, K. J., Vassos, E., & Collier, D. A. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1309324111 · Cited by 88
Pak, C., Dankó, T., Mirabella, V. R., Wang, J., Liu, Y., Vangipuram, M., Grieder, S. D., Zhang, X., Ward, T., Huang, Y. A., et al. (2021) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2025598118 · Cited by 84
Jønch, 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
NRXN1 deletion syndrome; phenotypic and penetrance data from 34 families
Shehhi, M. R. A., Forman, E., Fitzgerald, J. E., McInerney, V., Krawczyk, J., Shen, S., Betts, D. R., Ardle, L. M., Gorman, K. M., King, M. D., et al. (2018) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2018.07.015 · Cited by 78
Rees, E., O’Donovan, M. C., & Owen, M. J. (2014) · Current Opinion in Behavioral Sciences · doi:10.1016/j.cobeha.2014.07.001 · Cited by 77
Self-citationNeural circuits regulating prosocial behaviors
Walsh, J. J., Christoffel, D. J., & Malenka, R. C. (2023) · Neuropsychopharmacology · doi:10.1038/s41386-022-01348-8 · Cited by 72
van de Leemput, J., Hess, J., Glatt, S. J., & Tsuang, M. T. (2016) · Advances in genetics · doi:10.1016/bs.adgen.2016.08.001 · Cited by 71
Tropeano, M., Howley, D., Gazzellone, M. J., Wilson, C., Ahn, J. W., Stavropoulos, D. J., Murphy, C. M., Eis, P. S., Hatchwell, E., Dobson, R., et al. (2016) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2015-103621 · Cited by 69
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
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-citationMoreau, C. A., Urchs, S. G. W., Kumar, K., Orban, P., Schramm, C., Dumas, G., Labbe, A., Huguet, G., Douard, E. A., Quirion, P.-O., et al. (2020) · Nature Communications · doi:10.1038/s41467-020-18997-2 · Cited by 64
Bacchelli, E., Cameli, C., Viggiano, M., Igliozzi, R., Mancini, A., Tancredi, R., Battaglia, A., & Maestrini, E. (2020) · Scientific Reports · doi:10.1038/s41598-020-59922-3 · Cited by 64
Jacquemont, S., Huguet, G., Klein, M., Chawner, S. J. R. A., Donald, K. A., van den Bree, M. B. M., Sebat, J. L., Ledbetter, D. H., Constantino, J. N., Earl, R. K., et al. (2022) · American Journal of Psychiatry · doi:10.1176/appi.ajp.2021.21040432 · Cited by 65
Chaste, P., Sanders, S. J., Mohan, K. N., Klei, L., Song, Y., Murtha, M. T., Hus, V., Lowe, J. K., Willsey, A. J., Moreno‐De‐Luca, D., et al. (2014) · Autism Research · doi:10.1002/aur.1378 · Cited by 61
Escudero, I., & Johnstone, M. (2014) · Current Psychiatry Reports · doi:10.1007/s11920-014-0502-8 · Cited by 61
Exome arrays capture polygenic rare variant contributions to schizophrenia
Richards, A. L., Leonenko, G., Walters, J. T., Kavanagh, D. H., Rees, E. G., Evans, A., Chambert, K. D., Moran, J. L., Goldstein, J., Neale, B. M., et al. (2016) · Human Molecular Genetics · doi:10.1093/hmg/ddv620 · Cited by 50
Self-citationForsyth, J. K., Nachun, D. C., Gandal, M. J., Geschwind, D. H., Anderson, A., Coppola, G., & Bearden, C. E. (2019) · Biological Psychiatry · doi:10.1016/j.biopsych.2019.06.029 · Cited by 62
Genetics 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
Increased Ca2+ signaling in NRXN1α+/− neurons derived from ASD induced pluripotent stem cells
Avazzadeh, S., McDonagh, K., Reilly, J., Wang, Y., Boomkamp, S. D., McInerney, V., Krawczyk, J., Fitzgerald, J., Feerick, N., O’Sullivan, M., et al. (2019) · Molecular Autism · doi:10.1186/s13229-019-0303-3 · Cited by 57
Saito, R., Koebis, M., Nagai, T., Shimizu, K., Liao, J., Wulaer, B., Sugaya, Y., Nagahama, K., Uesaka, N., Kushima, I., et al. (2020) · Translational Psychiatry · doi:10.1038/s41398-020-0723-z · Cited by 63
Thinking About Schizophrenia in an Era of Genomic Medicine
Weinberger, D. R. (2019) · American Journal of Psychiatry · doi:10.1176/appi.ajp.2018.18111275 · Cited by 53
A Neurodevelopment Approach for a Transitional Model of Early Onset Schizophrenia
Berardis, D. D., Filippis, S. D., Masi, G., Vicari, S., & Zuddas, A. (2021) · Brain Sciences · doi:10.3390/brainsci11020275 · Cited by 57
Demkow, U. A., & Wolańczyk, T. (2017) · Translational Psychiatry · doi:10.1038/tp.2017.106 · Cited by 54
What have we learned from the Psychiatric Genomics Consortium
O’Donovan, M. C. (2015) · World Psychiatry · doi:10.1002/wps.20270 · Cited by 51
Self-citationZhou, C., Zhang, W., Chen, W., Yin, Y., Atyah, M. M., Liu, S., Guo, L., Shi, Y., Ye, Q., Dong, Q., et al. (2017) · Scientific Reports · doi:10.1038/s41598-017-11029-y · Cited by 51
Behavioral characterization of dup15q syndrome: Toward meaningful endpoints for clinical trials
DiStefano, C., Wilson, R. B., Hyde, C., Cook, E. H., Thibert, R. L., Reiter, L. T., Vogel‐Farley, V. K., Hipp, J. F., & Jeste, S. (2019) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.61385 · Cited by 49
Nielsen, J., Fejgin, K., Sotty, F., Nielsen, V., Mørk, A., Christoffersen, C. T., Yavich, L., Lauridsen, J. B., Clausen, D., Larsen, P. H., et al. (2017) · Translational Psychiatry · doi:10.1038/s41398-017-0011-8 · Cited by 52
Experience of chromosomal microarray applied in prenatal and postnatal settings in Hong Kong
Cheng, S. S. W., Chan, K. Y. K., Leung, K. K. P., Au, P. K. C., Tam, W., Li, S. K. M., Luk, H., Kan, A. S. Y., Chung, B. H., Lo, I. F. M., et al. (2019) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31697 · Cited by 47
Cheng, W., van der Meer, D., Parker, N., Hindley, G., O’Connell, K. S., Wang, Y., Shadrin, A. A., Alnæs, D., Bahrami, S., Lin, A., et al. (2022) · Molecular Psychiatry · doi:10.1038/s41380-022-01751-z · Cited by 45
Stern, S., Hacohen, N., Meiner, V., Yagel, S., Zenvirt, S., Shkedi‐Rafid, S., Macarov, M., Valsky, D. V., Porat, S., Yanai, N., et al. (2020) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.22026 · Cited by 44
Patel, A., & Rosenfeld, J. A. (2016) · Journal of Pediatric Genetics · doi:10.1055/s-0036-1584306 · Cited by 46
Roussos, P., Guennewig, B., Kaczorowski, D. C., Barry, G., & Brennand, K. (2016) · JAMA Psychiatry · doi:10.1001/jamapsychiatry.2016.2575 · Cited by 46
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
Lin, A., Vajdi, A., Kushan, L., Hellemann, G., Pacheco-Hansen, L., Jonas, R. K., Jalbrzikowski, M., Kingsbury, L., Raznahan, A., & Bearden, C. E. (2020) · Biological Psychiatry · doi:10.1016/j.biopsych.2019.12.028 · Cited by 46
Woodbury‐Smith, M., Nicolson, R., Zarrei, M., Yuen, R. K. C., Walker, S., Howe, J., Uddin, M. J., Hoang, N., Buchanan, J. A., Chrysler, C., et al. (2017) · npj Genomic Medicine · doi:10.1038/s41525-017-0020-9 · Cited by 44
Hiroi, N. (2018) · Psychiatry and Clinical Neurosciences · doi:10.1111/pcn.12641 · Cited by 43
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
Beekhuis-Hoekstra, S. D., Stringer, S., Heine, V. M., & Posthuma, D. (2017) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2017.00164 · Cited by 42
An interaction-based model for neuropsychiatric features of copy-number variants
Jensen, M., & Girirajan, S. (2019) · PLoS Genetics · doi:10.1371/journal.pgen.1007879 · Cited by 39
Zug, R. (2022) · Biology Open · doi:10.1242/bio.058896 · Cited by 45
Forsingdal, A., Jørgensen, T. N., Olsen, L., Werge, T. M., Didriksen, M., & Nielsen, J. (2018) · Biological Psychiatry · doi:10.1016/j.biopsych.2018.07.004 · Cited by 42
Human stem cell-based models for studying autism spectrum disorder-related neuronal dysfunction
Cheffer, A., Flitsch, L. J., Krutenko, T., Röderer, P., Sokhranyaeva, L., Iefremova, V., Hajo, M., Peitz, M., Schwarz, M. K., & Brüstle, O. (2020) · Molecular Autism · doi:10.1186/s13229-020-00383-w · Cited by 43
Mapping a shared genetic basis for neurodevelopmental disorders
Jensen, M., & Girirajan, S. (2017) · Genome Medicine · doi:10.1186/s13073-017-0503-4 · Cited by 40
Incomplete penetrance of NRXN1 deletions in families with schizophrenia
Todarello, G., Feng, N., Kolachana, B. S., Li, C., Vakkalanka, R., Bertolino, A., Weinberger, D. R., & Straub, R. E. (2014) · Schizophrenia Research · doi:10.1016/j.schres.2014.02.023 · Cited by 39
Improved ethical guidance for the return of results from psychiatric genomics research
Lázaro‐Muñoz, G., Farrell, M. S., Crowley, J. J., Filmyer, D. M., Shaughnessy, R. A., Josiassen, R. C., & Sullivan, P. F. (2017) · Molecular Psychiatry · doi:10.1038/mp.2017.228 · Cited by 38
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
Enzymatic Degradation of Cortical Perineuronal Nets Reverses GABAergic Interneuron Maturation
Willis, A., Pratt, J. A., & MORRIS, B. J. (2022) · Molecular Neurobiology · doi:10.1007/s12035-022-02772-z · Cited by 38
Bristow, G. C., Thomson, D. M., Openshaw, R. L., Mitchell, E. J., Pratt, J. A., Dawson, N., & Morris, B. J. (2020) · Cell Reports · doi:10.1016/j.celrep.2020.107536 · Cited by 36
Role of late amniocentesis in the era of modern genomic technologies
Daum, H., David, A. B., Nadjari, M., Zenvirt, S., Helman, S., Yanai, N., Meiner, V., Yagel, S., Frumkin, A., Shkedi‐Rafid, S., et al. (2018) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.20113 · Cited by 35
Metadata
- Authors
- Kirov, G., Rees, E., Walters, J. T. R., Escott-Price, V., Georgieva, L., Richards, A. L., Chambert, K. D., Davies, G., Legge, S. E., Moran, J. L., McCarroll, S. A., O’Donovan, M. C., & Owen, M. J.
- Affiliations
- Cardiff University (GB)
- Broad Institute (US)
- Corresponding author
- Kirov, George
- ORCID
- Venue
- Biological Psychiatry
- Publisher
- Elsevier BV
- Published
- 2014-03
- Volume
- 75
- Issue
- 5
- Pages
- 378-385
- ISSN
- 0006-3223 (ISSN-L)
- PMC
- PMC4229045
- OpenAlex
- W2170090311
- Cited by
- 368
- References
- 28
- Citations by year
- 2026: 6 · 2025: 21 · 2024: 16 · 2023: 23 · 2022: 25 · 2021: 43 · 2020: 39 · 2019: 50 · 2018: 22 · 2017: 29 · 2016: 35 · 2015: 27 · 2014: 26
- FWCI
- 20.58
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Locations
- Biological Psychiatry (publishedVersion, cc-by)
- PubMed (publishedVersion)
- ORCA Online Research @Cardiff (Cardiff University) (acceptedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- Medical Research Council (MRC) Centre (G0800509)
- Program Grants (G0801418)
- 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, schizophrenia, developmental delay, autism spectrum disorder, congenital malformations, penetrance, selection pressure, genetic counseling, recurrent CNVs, genetic risk
- MeSH terms
- Developmental Disabilities, Chromosome Aberrations, Female, Humans, Male, Schizophrenia, Penetrance, Genetic Predisposition to Disease, DNA Copy Number Variations
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review