Exome arrays capture polygenic rare variant contributions to schizophrenia
Open accessAbstract
Schizophrenia is a highly heritable disorder. Genome-wide association studies based largely on common alleles have identified over 100 schizophrenia risk loci, but it is also evident from studies of copy number variants (CNVs) and from exome-sequencing studies that rare alleles are also involved. Full characterization of the contribution of rare alleles to the disorder awaits the deployment of sequencing technology in very large sample sizes, meanwhile, as an interim measure, exome arrays allow rare non-synonymous variants to be sampled at a fraction of the cost. In an analysis of exome array data from 13 688 individuals (5585 cases and 8103 controls) from the UK, we found that rare (minor allele frequency < 0.1%) variant association signal was enriched among genes that map to autosomal loci that are genome-wide significant (GWS) in common variant studies of schizophrenia genome-wide association study (PGWAS = 0.01) as well as gene sets known to be enriched for rare variants in sequencing studies (PRARE = 0.026). We also identified the gene-wise equivalent of GWS support for WDR88 (WD repeat-containing protein 88), a gene of unknown function (P = 6.5 × 10(-7)). Rare alleles represented on exome chip arrays contribute to the genetic architecture of schizophrenia, but as is the case for GWAS, very large studies are required to reveal additional susceptibility alleles for the disorder.
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
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?
For less-rare segregating variants of even modest allele frequencies, the authors were unable to detect any excess in affected relative to unaffected individuals.
“For less-rare (segregating) variants of even modest allele frequencies, we were unable to detect any excess in affected relative to unaffected individuals, consistent with a previous analysis of non-ultra-rare exonic variants in other cohorts47.”
From Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia (2016) · cites this paper as [47]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
Gene Ontology: tool for the unification of biology
Ashburner, M., Ball, C. A., Blake, J. A., Botstein, D., Butler, H., Cherry, J. M., Davis, A. P., Dolinski, K., Dwight, S. S., Eppig, J. T., et al. (2000) · Nature Genetics · doi:10.1038/75556 · Cited by 43,206 · see citing works
KEGG: Kyoto Encyclopedia of Genes and Genomes
Kanehisa, M. (2000) · Nucleic Acids Research · doi:10.1093/nar/28.1.27 · Cited by 37,077 · see citing works
PLINK: a tool set for whole-genome association and population-based linkage analyses.
Purcell, S., Neale, B., Todd-Brown, K., Thomas, L., Ferreira, M. A. R., Bender, D., Maller, J., Sklar, P., de Bakker, P. I. W., Daly, M. J., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/519795 · Cited by 34,089 · see citing works
Self-citationKEGG: Kyoto Encyclopedia of Genes and Genomes
Ogata, H., Goto, S., Sato, K., Fujibuchi, W., Bono, H., & Kanehisa, M. (1999) · Nucleic Acids Research · doi:10.1093/nar/27.1.29 · Cited by 31,232 · see citing works
Principal components analysis corrects for stratification in genome-wide association studies
Price, A. L., Patterson, N. J., Plenge, R. M., Weinblatt, M. E., Shadick, N. A., & Reich, D. (2006) · Nature Genetics · doi:10.1038/ng1847 · Cited by 10,248 · see citing works
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls
The Wellcome Trust Case Control Consortium, Management Committee, Burton, P. R., Clayton, D. G., Cardon, L. R., Craddock, N., Deloukas, P., Duncanson, A., Kwiatkowski, D. P., McCarthy, M. I., et al. (2007) · Nature · doi:10.1038/nature05911 · Cited by 9,442 · see citing works
Self-citationDiagnostic and Statistical Manual of Mental Disorders (DSM-IV)
Hu, R. J. (2003) · Elsevier eBooks · doi:10.1016/b0-12-226870-9/01070-4 · Cited by 9,167 · see citing works
Biological insights from 108 schizophrenia-associated genetic loci
Schizophrenia Working Group of the Psychiatric Genomics Consortium (2014) · Nature · doi:10.1038/nature13595 · Cited by 7,577 · see citing works
Self-citationPopulation Structure and Eigenanalysis
Patterson, N., Price, A. L., & Reich, D. (2006) · PLoS Genetics · doi:10.1371/journal.pgen.0020190 · Cited by 5,280 · see citing works
Common polygenic variation contributes to risk of schizophrenia and bipolar disorder
The International Schizophrenia Consortium (2009) · Nature · doi:10.1038/nature08185 · Cited by 4,821 · see citing works
Self-citationGene Ontology Consortium: going forward
The Gene Ontology Consortium (2015) · Nucleic Acids Research · doi:10.1093/nar/gku1179 · Cited by 3,492 · see citing works
Data, information, knowledge and principle: back to metabolism in KEGG
Kanehisa, M. I., Goto, S., Sato, Y., Kawashima, M., Furumichi, M., & Tanabe, M. (2013) · Nucleic Acids Research · doi:10.1093/nar/gkt1076 · Cited by 3,103 · see citing works
SCAN: Schedules fonr Clinical Assessment in Neuropsychiatry
Wing, J. K. (1990) · Archives of General Psychiatry · doi:10.1001/archpsyc.1990.01810180089012 · Cited by 2,517 · see citing works
Large-scale gene function analysis with the PANTHER classification system
Mi, H., Muruganujan, A., Casagrande, J. T., & Thomas, P. D. (2013) · Nature Protocols · doi:10.1038/nprot.2013.092 · Cited by 2,422 · see citing works
FMRP Stalls Ribosomal Translocation on mRNAs Linked to Synaptic Function and Autism
Darnell, J. C., Van Driesche, S. J., Zhang, C., Hung, K. Y. S., Mele, A., Fraser, C. E., Stone, E. F., Chen, C., Fak, J. J., Chi, S. W., et al. (2011) · Cell · doi:10.1016/j.cell.2011.06.013 · Cited by 2,072 · see citing works
Purcell, S., Cherny, S. S., & Sham, P. C. (2003) · Bioinformatics · doi:10.1093/bioinformatics/19.1.149 · Cited by 2,057 · see citing works
The Reactome pathway knowledgebase
Croft, D., Mundo, A. F., Haw, R., Milacic, M., Weiser, J., Wu, G., Caudy, M., Garapati, P., Gillespie, M., Kamdar, M. R., et al. (2014) · Nucleic Acids Research · doi:10.1093/nar/gkt1102 · Cited by 1,889 · see citing works
Mi, H., Muruganujan, A., & Thomas, P. D. (2012) · Nucleic Acids Research · doi:10.1093/nar/gks1118 · Cited by 1,693 · see citing works
De novo mutations in schizophrenia implicate synaptic networks
Fromer, M., Pocklington, A. J., Kavanagh, D. H., Williams, H. J., Dwyer, S., Gormley, P., Georgieva, L., Rees, E., Palta, P., Ruderfer, D. M., et al. (2014) · Nature · doi:10.1038/nature12929 · Cited by 1,617 · see citing works
Self-citationPID: the Pathway Interaction Database
Schaefer, C. F., Anthony, K., Krupa, S., Buchoff, J., Day, M., Hannay, T., & Buetow, K. H. (2009) · Nucleic Acids Research · doi:10.1093/nar/gkn653 · Cited by 1,603 · see citing works
Genome-wide association analysis identifies 13 new risk loci for schizophrenia
Multicenter Genetic Studies of Schizophrenia Consortium, Ripke, S., Psychosis Endophenotypes International Consortium, Wellcome Trust Case Control Consortium 2, O'Dushlaine, C., Chambert, K., Moran, J. L., Kähler, A. K., Akterin, S., Bergen, S. E., et al. (2013) · Nature Genetics · doi:10.1038/ng.2742 · Cited by 1,496 · see citing works
Self-citationA polygenic burden of rare disruptive mutations in schizophrenia
Purcell, S. M., Moran, J. L., Fromer, M., Ruderfer, D., Solovieff, N., Roussos, P., O’Dushlaine, C., Chambert, K., Bergen, S. E., Kähler, A., et al. (2014) · Nature · doi:10.1038/nature12975 · Cited by 1,385 · see citing works
Self-citationThe Reactome pathway Knowledgebase
Fabregat, A., Sidiropoulos, K., Garapati, P., Gillespie, M., Hausmann, K., Haw, R., Jassal, B., Jupe, S., Korninger, F., McKay, S., et al. (2016) · Nucleic Acids Research · doi:10.1093/nar/gkv1351 · Cited by 1,201 · see citing works
Genetic architectures of psychiatric disorders: the emerging picture and its implications
Sullivan, P. F., Daly, M. J., & O'Donovan, M. (2012) · Nature Reviews Genetics · doi:10.1038/nrg3240 · Cited by 1,177 · see citing works
Self-citationLee, S., Emond, M. J., Bamshad, M. J., Barnes, K. C., Rieder, M. J., Nickerson, D. A., Christiani, D. C., Wurfel, M. M., & Lin, X. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.06.007 · Cited by 1,040 · see citing works
Cohort profile: 1958 British birth cohort (National Child Development Study)
Power, C., & Elliott, J. (2005) · International Journal of Epidemiology · doi:10.1093/ije/dyi183 · Cited by 978 · see citing works
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 · see citing works
Self-citationA polygenic theory of schizophrenia.
Gottesman, I. I., & Shields, J. (1967) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.58.1.199 · Cited by 636 · see citing works
Searching for missing heritability: Designing rare variant association studies
Zuk, O., Schaffner, S. F., Samocha, K., Do, R., Hechter, E., Kathiresan, S., Daly, M. J., Neale, B. M., Sunyaev, S. R., & Lander, E. S. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1322563111 · Cited by 635 · see citing works
Self-citationPartitioning Heritability of Regulatory and Cell-Type-Specific Variants across 11 Common Diseases
Gusev, A., Lee, S. H., Trynka, G., Finucane, H., Vilhjálmsson, B. J., Xu, H., Zang, C., Ripke, S., Bulik-Sullivan, B., Stahl, E., et al. (2014) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2014.10.004 · Cited by 544 · see citing works
Self-citationGulsuner, S., Walsh, T., Watts, A. C., Lee, M. K., Thornton, A. M., Casadei, S., Rippey, C., Shahin, H., Braff, D., Cadenhead, K. S., et al. (2013) · Cell · doi:10.1016/j.cell.2013.06.049 · Cited by 536 · see citing works
Analysis 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 · see citing works
Self-citationDe novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia
Xu, B., Ionita-Laza, I., Roos, J. L., Boone, B., Woodrick, S., Sun, Y., Levy, S., Gogos, J. A., & Karayiorgou, M. (2012) · Nature Genetics · doi:10.1038/ng.2446 · Cited by 442 · see citing works
Increased exonic de novo mutation rate in individuals with schizophrenia
Girard, S. L., Gauthier, J., Noreau, A., Xiong, L., Zhou, S., Jouan, L., Dionne-Laporte, A., Spiegelman, D., Henrion, E., Diallo, O., et al. (2011) · Nature Genetics · doi:10.1038/ng.886 · Cited by 438 · see citing works
The Penetrance of Copy Number Variations for Schizophrenia and Developmental Delay
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., et al. (2014) · Biological Psychiatry · doi:10.1016/j.biopsych.2013.07.022 · Cited by 368 · see citing works
Self-citationThe Mouse Genome Database (MGD): facilitating mouse as a model for human biology and disease
Eppig, J. T., Blake, J. A., Bult, C. J., Kadin, J. A., Richardson, J. E., & The Mouse Genome Database Group (2014) · Nucleic Acids Research · doi:10.1093/nar/gku967 · Cited by 358 · see citing works
Annotating Cancer Variants and Anti-Cancer Therapeutics in Reactome
Orlic-Milacic, M., Haw, R., Rothfels, K., Wu, G., Croft, D. W., Hermjakob, H., D’Eustachio, P., & Stein, L. D. (2012) · Cancers · doi:10.3390/cancers4041180 · Cited by 281 · see citing works
Sebat, J., Levy, D. L., & McCarthy, S. E. (2009) · Trends in Genetics · doi:10.1016/j.tig.2009.10.004 · Cited by 260 · see citing works
Hamshere, M. L., Walters, J., Smith, R. L., Richards, A. L., Green, E., Grozeva, D., Jones, I. R., Forty, L., Jones, L. A., Gordon‐Smith, K., et al. (2012) · Molecular Psychiatry · doi:10.1038/mp.2012.67 · Cited by 245 · see citing works
Self-citationzCall: a rare variant caller for array-based genotyping
Goldstein, J. I., Crenshaw, A., Carey, J., Grant, G. B., Maguire, J., Fromer, M., O’Dushlaine, C., Moran, J. L., Chambert, K., Stevens, C., et al. (2012) · Bioinformatics · doi:10.1093/bioinformatics/bts479 · Cited by 196 · see citing works
Self-citationRichards, A. L., Jones, L., Moskvina, V, Kirov, G., Gejman, P. V., Levinson, D. F., Sanders, A. R., Molecular Genetics of Schizophrenia Collaboration (MGS), International Schizophrenia Consortium (ISC), Purcell, S., et al. (2012) · Molecular Psychiatry · doi:10.1038/mp.2011.11 · Cited by 123 · see citing works
Self-citationMowry, B. J., & Nancarrow, D. (2001) · Clinical and Experimental Pharmacology and Physiology · doi:10.1046/j.1440-1681.2001.03399.x · Cited by 89 · see citing works
Strachan, D. P., Rudnicka, A. R., Power, C., Shepherd, P., Fuller, E., Davis, A. C., Gibb, I., Meena Kumari, B., Rumley, A., Macfarlane, G. J., et al. (2007) · International Journal of Epidemiology · doi:10.1093/ije/dyl309 · Cited by 79 · see citing works
Mutation screening of the 3q29 microdeletion syndrome candidate genes DLG1 and PAK2 in schizophrenia
Carroll, L. S., Williams, H. J., Walters, J., Kirov, G., O’Donovan, M. C., & Owen, M. (2011) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.31231 · Cited by 29 · see citing works
Self-citationCardno, A. G., & Gottesman, I. I. (2000) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(200021)97:1
Flagged first, then by citations
Cited by
Sorted by citations
GERAD1 Consortium, Pardiñas, A. F., CRESTAR Consortium, Holmans, P., Pocklington, A. J., Escott-Price, V., Ripke, S., Carrera, N., Legge, S. E., Bishop, S., et al. (2018) · Nature Genetics · doi:10.1038/s41588-018-0059-2 · Cited by 1,552 · see citing works
Self-citationARUK Consortium, Sims, R., GERAD/PERADES, C., van der Lee, S. J., Naj, A. C., Bellenguez, C., Badarinarayan, N., Jakobsdottir, J., Kunkle, B. W., Boland, A., et al. (2017) · Nature Genetics · doi:10.1038/ng.3916 · Cited by 1,126 · see citing works
Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia
Genovese, G., Fromer, M., Stahl, E. A., Ruderfer, D. M., Chambert, K., Landén, M., Moran, J. L., Purcell, S. M., Sklar, P., Sullivan, P. F., et al. (2016) · Nature Neuroscience · doi:10.1038/nn.4402 · Cited by 444 · see citing works
Self-citationHui, C. W., St-Pierre, A., Hajj, H. E., Remy, Y., Hébert, S. S., Luheshi, G. N., Srivastava, L. K., & Tremblay, M. (2018) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2018.00013 · Cited by 158 · see citing works
Genetics of Schizophrenia: Overview of Methods, Findings and Limitations
Henriksen, M. G., Nordgaard, J., & Jansson, L. B. (2017) · Frontiers in Human Neuroscience · doi:10.3389/fnhum.2017.00322 · Cited by 169 · see citing works
Legge, S. E., Hamshere, M. L., Ripke, S., Pardiñas, A. F., Goldstein, J. I., Rees, E., Richards, A. L., Leonenko, G., Jorskog, L. F., Chambert, K. D., et al. (2016) · Molecular Psychiatry · doi:10.1038/mp.2016.97 · Cited by 93 · see citing works
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 59 · see citing works
Coding and regulatory variants are associated with serum protein levels and disease
Emilsson, V., Guðmundsdóttir, V., Guðjónsson, A., Jónmundsson, Þ., Jonsson, B. G., Karim, M. A., Ilkov, M., Staley, J. R., Gudmundsson, E. F., Launer, L. J., et al. (2022) · Nature Communications · doi:10.1038/s41467-022-28081-6 · Cited by 54 · see citing works
Rammos, A., Gonzalez, L. A. N., Weinberger, D. R., Mitchell, K. J., & Nicodemus, K. K. (2019) · Neuropsychopharmacology · doi:10.1038/s41386-019-0410-z · Cited by 51 · see citing works
Ruiz‐Pinto, S., Pita, G., Martín, M., Alonso‐Gordoa, T., Barnes, D. R., Alonso, M. R., Herráez, B., García‐Miguel, P., Alonso, J., Pérez‐Martínez, A., et al. (2017) · Breast Cancer Research and Treatment · doi:10.1007/s10549-017-4497-9 · Cited by 30 · see citing works
Mini‐review: Update on the genetics of schizophrenia
Coelewij, L., & Curtis, D. (2018) · Annals of Human Genetics · doi:10.1111/ahg.12259 · Cited by 28 · see citing works
Genetics of Childhood-onset Schizophrenia 2019 Update
Forsyth, J. K., & Asarnow, R. F. (2019) · Child and Adolescent Psychiatric Clinics of North America · doi:10.1016/j.chc.2019.08.007 · Cited by 29 · see citing works
Lencz, T., Yu, J., Khan, R. R., Flaherty, E. K., Carmi, S., Lam, M., Ben‐Avraham, D., Barzilai, N., Bressman, S., Darvasi, A., et al. (2021) · Neuron · doi:10.1016/j.neuron.2021.03.004 · Cited by 29 · see citing works
Genetic association of FMRP targets with psychiatric disorders
Clifton, N. E., Rees, E., Holmans, P., Pardiñas, A. F., Harwood, J. C., Florio, A. D., Kirov, G., Walters, J., O’Donovan, M. C., Owen, M. J., et al. (2020) · Molecular Psychiatry · doi:10.1038/s41380-020-00912-2 · Cited by 27 · see citing works
Self-citationFMRP and CYFIP1 at the Synapse and Their Role in Psychiatric Vulnerability
Clifton, N. E., Thomas, K. L., Wilkinson, L. S., Hall, J., & Trent, S. (2020) · Complex Psychiatry · doi:10.1159/000506858 · Cited by 28 · see citing works
Nguyen, H. D., & Kim, M. (2022) · Journal of Affective Disorders · doi:10.1016/j.jad.2022.09.108 · Cited by 25 · see citing works
Rigor and reproducibility in genetic research on eating disorders
Hübel, C., Leppä, V., Breen, G. D., & Bulik, C. M. (2018) · International Journal of Eating Disorders · doi:10.1002/eat.22896 · Cited by 22 · see citing works
Tylee, D. S., Espinoza, A. J., Hess, J., Tahir, M. A., Mccoy, S. Y., Rim, J., Dhimal, T., Cohen, O. S., & Glatt, S. J. (2016) · Autism Research · doi:10.1002/aur.1679 · Cited by 21 · see citing works
Exome array analysis suggests an increased variant burden in families with schizophrenia
McCarthy, N. S., Melton, P. E., Ward, S. V., Allan, S. M., Dragović, M., Clark, M. L., Morar, B., Rubio, J. P., Blangero, J., Badcock, J. C., et al. (2016) · Schizophrenia Research · doi:10.1016/j.schres.2016.12.007 · Cited by 21 · see citing works
Emamalizadeh, B., Movafagh, A., Darvish, H., Kazeminasab, S., Andarva, M., Namdar‐Aligoodarzi, P., & Ohadi, M. (2017) · Molecular Genetics and Genomics · doi:10.1007/s00438-017-1294-4 · Cited by 21 · see citing works
Leonenko, G., Richards, A. L., Walters, J., Pocklington, A. J., Chambert, K., AlEissa, M. M., Sharp, S. I., O’Brien, N. L., Curtis, D., Bass, N. J., et al. (2017) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32560 · Cited by 20 · see citing works
Self-citationSalvetat, N., Checa-Robles, F. J., Delacrétaz, A., Cayzac, C., Dubuc, B., Vetter, D., Dainat, J., Lang, J.-P., Gamma, F., & Weissmann, D. (2024) · Journal of Affective Disorders · doi:10.1016/j.jad.2024.04.022 · Cited by 20 · see citing works
Nandakumar, P., Lee, D., Richard, M. A., Ayele, F. T., Tayo, B. O., Ware, E. B., Sung, Y. J., Salako, B. L., Ogunniyi, A. O., Gu, C. C., et al. (2017) · Journal of Hypertension · doi:10.1097/hjh.0000000000001319 · Cited by 19 · see citing works
Genome-wide association analyses of common infections in a large practice-based biobank
Jiang, L., Kerchberger, V. E., Shaffer, C. M., Dickson, A. L., Ormseth, M. J., Daniel, L. L., Leon, B. G. C., Cox, N. J., Chung, C. P., Wei, W., et al. (2022) · BMC Genomics · doi:10.1186/s12864-022-08888-9 · Cited by 16 · see citing works
Alexeeva, E. I., Shingarova, M., Dvoryakovskaya, T. M., Lomakina, O. L., Fetisova, A. N., Isaeva, K., Чомахидзе, А. М., Chibisova, K. V., Krekhova, E. A., Kozodaeva, A., et al. (2023) · Frontiers in Medicine · doi:10.3389/fmed.2023.1257045 · Cited by 15 · see citing works
Investigation of Schizophrenia with Human Induced Pluripotent Stem Cells
Powell, S. K., O’Shea, C. P., Shannon, S. R., Akbarian, S., & Brennand, K. (2020) · Advances in neurobiology · doi:10.1007/978-3-030-45493-7_6 · Cited by 15 · see citing works
Exploring the role of low-frequency and rare exonic variants in alcohol and tobacco use
Marees, A. T., Hammerschlag, A. R., Bastarache, L. A., de Kluiver, H., Vorspan, F., van den Brink, W., Smit, D. J. A., Denys, D. A. J. P., Gamazon, E. R., Li‐Gao, R., et al. (2018) · Drug and Alcohol Dependence · doi:10.1016/j.drugalcdep.2018.03.026 · Cited by 15 · see citing works
Untreated PKU patients without intellectual disability: SHANK gene family as a candidate modifier
Klaassen, K., Djordjevic, M., Skakić, A., Kecman, B., Drmanac, R., Pavlović, S., & Stojiljković, M. (2021) · Molecular Genetics and Metabolism Reports · doi:10.1016/j.ymgmr.2021.100822 · Cited by 14 · see citing works
Sheerin, C. M., Kovalchick, L. V., Overstreet, C. M., Rappaport, L. M., Williamson, V. S., Vladimirov, V. I., Ruggiero, K. J., & Amstadter, A. B. (2019) · Brain Sciences · doi:10.3390/brainsci9060146 · Cited by 10 · see citing works
Exome Variant Analysis of Chronic Periodontitis in 2 Large Cohort Studies
Kasbohm, E., Holtfreter, B., Völker, U., Petersmann, A., Samietz, S., Biffar, R., Völzke, H., Meisel, P., Kacprowski, T., Homuth, G., et al. (2016) · Journal of Dental Research · doi:10.1177/0022034516665076 · Cited by 9 · see citing works
Larson, N. B., McDonnell, S. K., Cannon‐Albright, L., Teerlink, C. C., Stanford, J. L., Ostrander, E. A., Isaacs, W. B., Xu, J., Cooney, K. A., Lange, E. M., et al. (2017) · Genetic Epidemiology · doi:10.1002/gepi.22036 · Cited by 9 · see citing works
Epigenetic studies of schizophrenia: current status and future directions
Migdalska‐Richards, A., & Mill, J. S. (2019) · Current Opinion in Behavioral Sciences · doi:10.1016/j.cobeha.2018.12.003 · Cited by 9 · see citing works
Coding and regulatory variants affect serum protein levels and common diseasePreprint
Emilsson, V., Guðmundsdóttir, V., Guðjónsson, A., Karim, M. A., Ilkov, M., Staley, J. R., Gudmundsson, E. F., Jonsson, B. G., Launer, L. J., Lindeman, J. H. N., et al. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.05.06.080440 · Cited by 9 · see citing works
Errichiello, E., Giorda, R., Gambale, A., Iolascon, A., Zuffardi, O., & Giglio, S. (2020) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.1561 · Cited by 7 · see citing works
Lian, J., Han, M., Su, Y., Hodgson, J., & Deng, C. (2022) · Pharmacology Biochemistry and Behavior · doi:10.1016/j.pbb.2022.173453 · Cited by 7 · see citing works
Shokrgozar, A., Rahimi, M., & Shoraka, S. (2025) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2025.1464676 · Cited by 6 · see citing works
Dattani, S., Sham, P. C., Jermy, B. S., Coleman, J. R. I., Howard, D. M., & Lewis, C. M. (2023) · Translational Psychiatry · doi:10.1038/s41398-023-02324-6 · Cited by 9 · see citing works
Harold, D. H., Connolly, S., Riley, B. P., Kendler, K. S., McCarthy, S., McCombie, W. R., Richards, A., Owen, M. J., O’Donovan, M. C., Walters, J., et al. (2019) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32716 · Cited by 5 · see citing works
Self-citationAn association study of the HSPA8 gene polymorphisms with schizophrenia in a Polish population
Kowalczyk, M., Owczarek, A. J., Suchanek-Raif, R., Kucia, K. A., & Kowalski, J. (2021) · Cell Stress and Chaperones · doi:10.1007/s12192-021-01249-7 · Cited by 4 · see citing works
Sheerin, C. M., Vladimirov, V. I., Williamson, V. S., Bountress, K. E., Danielson, C. K., Ruggiero, K. J., & Amstadter, A. B. (2019) · European Journal of Psychotraumatology · doi:10.1080/20008198.2019.1688935 · Cited by 4 · see citing works
Zhang, Y., Xing, X., Huang, L., Su, Y., Liu, G., Zhang, X., & Yang, Y. (2024) · Heliyon · doi:10.1016/j.heliyon.2024.e38263 · Cited by 3 · see citing works
Askland, K. D., Strong, D. R., Wright, M. N., & Moore, J. H. (2021) · Genetic Epidemiology · doi:10.1002/gepi.22383 · Cited by 2 · see citing works
John, J., Kukshal, P., Triptish Bhatia, A., Harripaul, R., Nimgaonkar, V. L., Deshpande, S. N., & Thelma, B. K. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/829101 · Cited by 2 · see citing works
Erosion of representativeness in a cohort studyPreprint
Christodoulou, M. D., Brettschneider, J. A., & Steinsaltz, D. (2020) · medRxiv · doi:10.1101/2020.02.13.20022012 · Cited by 1 · see citing works
Jones, H. J., Zammit, S., & Walters, J. (2020) · Elsevier eBooks · doi:10.1016/b978-0-12-813201-2.00010-7
Self-citationSarmah, T., & Bhattacharyya, D. K. (2023) · Lecture notes in computer science · doi:10.1007/978-3-031-45170-6_79
Jiang, L., Kerchberger, V. E., Shaffer, C. M., Dickson, A. L., Ormseth, M. J., Daniel, L. L., Leon, B. G. C., Cox, N. J., Chung, C. P., Wei, W.-Q., et al. (2022) · Figshare · doi:10.6084/m9.figshare.21220157
Jiang, L., Kerchberger, V. E., Shaffer, C. M., Dickson, A. L., Ormseth, M. J., Daniel, L. L., Leon, B. G. C., Cox, N. J., Chung, C. P., Wei, W.-Q., et al. (2022) · Figshare · doi:10.6084/m9.figshare.21220166
Jiang, L., Kerchberger, V. E., Shaffer, C. M., Dickson, A. L., Ormseth, M. J., Daniel, L. L., Leon, B. G. C., Cox, N. J., Chung, C. P., Wei, W.-Q., et al. (2022) · Figshare · doi:10.6084/m9.figshare.21220160
Jiang, L., Kerchberger, V. E., Shaffer, C. M., Dickson, A. L., Ormseth, M. J., Daniel, L. L., Leon, B. G. C., Cox, N. J., Chung, C. P., Wei, W.-Q., et al. (2022) · Figshare · doi:10.6084/m9.figshare.21220163
- Authors
- 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., McCarroll, S. A., Pocklington, A. J., Holmans, P. A., Owen, M. J., & O'Donovan, M. C.
- Affiliations
- Cardiff University (GB)
- Broad Institute (US)
- ORCID
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2016-01-05
- Volume
- 25
- Issue
- 5
- Pages
- 1001-1007
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- PMC
- PMC4754044
- OpenAlex
- W2274013562
- Cited by
- 50
- References
- 45
- Citations by year
- 2025: 1 · 2024: 2 · 2023: 3 · 2022: 8 · 2021: 4 · 2020: 7 · 2019: 8 · 2018: 5 · 2017: 7 · 2016: 5
- FWCI
- 7.41
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- cc-by
- Locations
- Human Molecular Genetics (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- ORCA Online Research @Cardiff (Cardiff University) (acceptedVersion)
- Digital Access to Scholarship at Harvard (DASH) (Harvard University) (submittedVersion, cc-by)
- HighWire Press Open Archive (submittedVersion)
- Funders
- Medical Research Council (MRC) Centre (G0800509)
- Program Grants (G0801418)
- the European Community's Seventh Framework Programme (HEALTH-F2-2010-241909)
- Stanley Center for Psychiatric Research
- Topics
- Health Sciences › Medicine › Psychiatry and Mental health › Schizophrenia research and treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Keywords
- schizophrenia, rare variants, polygenic risk, non-synonymous variants, genetic architecture, copy number variation, genetic susceptibility loci
- MeSH terms
- Alleles, Female, Gene Frequency, Humans, Male, Nerve Tissue Proteins, Proteins, Schizophrenia, Case-Control Studies, Sample Size, Quantitative Trait, Heritable, Genetic Predisposition to Disease, Oligonucleotide Array Sequence Analysis, Polymorphism, Single Nucleotide, Quantitative Trait Loci, Genome-Wide Association Study, DNA Copy Number Variations, Exome
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
