The DOI matches its Crossref record; 51 of the 52 references it cites were found in a registry or an index.
A polygenic burden of rare disruptive mutations in schizophrenia
Open accessAbstract
Schizophrenia is a common disease with a complex aetiology, probably involving multiple and heterogeneous genetic factors. Here, by analysing the exome sequences of 2,536 schizophrenia cases and 2,543 controls, we demonstrate a polygenic burden primarily arising from rare (less than 1 in 10,000), disruptive mutations distributed across many genes. Particularly enriched gene sets include the voltage-gated calcium ion channel and the signalling complex formed by the activity-regulated cytoskeleton-associated scaffold protein (ARC) of the postsynaptic density, sets previously implicated by genome-wide association and copy-number variation studies. Similar to reports in autism, targets of the fragile X mental retardation protein (FMRP, product of FMR1) are enriched for case mutations. No individual gene-based test achieves significance after correction for multiple testing and we do not detect any alleles of moderately low frequency (approximately 0.5 to 1 per cent) and moderately large effect. Taken together, these data suggest that population-based exome sequencing can discover risk alleles and complements established gene-mapping paradigms in neuropsychiatric disease.
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
“These findings support our model in which CYFIP1 regulation of calcium channel subunits compromise intracellular calcium levels, resulting in delayed axonal development10,84,85 (Fig. 7).”
From CYFIP1 governs the development of cortical axons by modulating calcium availability (2025) · cites this paper as [10]
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
“Additionally, a polygenic pattern including a rare heterozygous disruptive nonsense variant, p.Arg624Ter, in CYFIP1 was detected in a patient diagnosed with SCZ115 (Table 2n).”
From The WAVE complex in developmental and adulthood brain disorders (2025) · cites this paper as [115]
Experimental — accuracy not yet measuredIn the citing paper
“direct comparisons of the contributions of common and rare genetic variation show that common variation dominates heritable risk for SCZ and ASD (Gaugler et al., 2014; Purcell et al., 2014)”
From Defining the genetic, genomic, cellular, and diagnostic architectures of psychiatric disorders (2019) · cites this paper as Purcell et al., 2014
In the citing paper
“In the instances where this has been studied directly, polygenic risk acts additively with major mutational burdens (Gaugler et al., 2014; Niemi et al., 2018; Purcell et al., 2014; Weiner et al., 2017).”
From Defining the genetic, genomic, cellular, and diagnostic architectures of psychiatric disorders (2019) · cites this paper as Purcell et al., 2014
In the citing paper
“Thus, many severe mutations do not converge on one specific phenotype but instead seem to cause a range of clinical disorders74,76,80,81,84,87,91.”
From Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders (2015) · cites this paper as [81]
In the citing paper
“Additionally, whole-exome sequencing studies of other neurodevelopmental disorders have found enrichment for FMRP targets in rare mutations in schizophrenia81, intellectual disability68 and epilepsy78.”
From Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders (2015) · cites this paper as [81]
In the citing paper
“Earlier schizophrenia sequencing studies have established that ultra-rare and de novo mutations contribute to risk as a category, and have prioritized disease-relevant tissues and processes, specifically observing an enrichment in neuronal genes and synaptic processes9,11,19–23.”
From Rare coding variants in ten genes confer substantial risk for schizophrenia (2022) · cites this paper as [19]
In the citing paper
“among 5,092 (of the 12,332) individuals who were also part of an earlier sequencing study9, the additional data allowed us to re-classify ~66% of variants that had been “singletons” as segregating variants (not URVs in the current analysis).”
From Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia (2016) · cites this paper as [9]
In the citing paper
“A strong and consistent finding in exome-sequencing studies of schizophrenia involves an excess of variants in genes whose mRNAs are bound by the fragile X mental retardation protein (FMRP)9,12,27.”
From Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia (2016) · cites this paper as [9]
In the citing paper
“The observed enrichment was consistent across data from previously analyzed exomes9 and newly generated data (Supplementary Fig. 5); as the previously analyzed exomes were sequenced across randomized batches with equal number of cases and controls in each batch, this provides additional evidence that the enrichment is not due to technical effects.”
From Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia (2016) · cites this paper as [9]
In the citing paper
“The fact that an analysis of the current scale (4,877 cases, 6,203 controls, and 45,376 other genomes used to help identify ultra-rare variants) did not implicate individual genes of large effect in an unbiased exome-wide search – while documenting a very clear exome-wide elevation of hundreds of pathogenic variants across 4,877 individuals affected with schizophrenia relative to controls – lends”
From Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia (2016) · cites this paper as [9]
In the citing paper
“Psychiatric cases with a diagnosis of schizophrenia or bipolar disorder were ascertained from the Swedish National Hospital Discharge Register as described in previous studies9,50, which captures all inpatient hospitalizations. Controls were randomly selected from population registers.”
From Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia (2016) · cites this paper as [9]
In the citing paper
“SCZ is truly complex and appears to result from a myriad of genetic variants exerting small effects on disease risk4,5, conforming closely to a classical polygenic model.”
From Gene expression elucidates functional impact of polygenic risk for schizophrenia (2016) · cites this paper as [5]
In the citing paper
“SCZ is truly complex and appears to result from a myriad of genetic variants exerting small effects on disease risk4,5, conforming closely to a classical polygenic model.”
From Gene expression elucidates functional impact of polygenic risk for schizophrenia (2016) · cites this paper as [5]
In the citing paper
“The available data are incomplete but implicate synaptic components, including calcium channel subunits and post-synaptic elements5–7.”
From Gene expression elucidates functional impact of polygenic risk for schizophrenia (2016) · cites this paper as [5]
In the citing paper
“We note that strong, independent support of our findings comes from the observation that analyses of rare variants have also implicated postsynaptic pathways in SCZ etiology23,24, suggesting that both rare and common variants are relevant.”
From Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways (2015) · cites this paper as [24]
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
Fast and accurate short read alignment with Burrows-Wheeler transform
Li, H., & Durbin, R. (2009) · Bioinformatics · doi:10.1093/bioinformatics/btp324 · Cited by 58,607
A framework for variation discovery and genotyping using next-generation DNA sequencing data
DePristo, M. A., Banks, E., Poplin, R. E., Garimella, K. V., Maguire, J., Hartl, C., Philippakis, A., del Angel, G., Rivas, M. A., Hanna, M., et al. (2011) · Nature Genetics · doi:10.1038/ng.806 · Cited by 11,457
Self-citationCommon polygenic variation contributes to risk of schizophrenia and bipolar disorder
The International Schizophrenia Consortium (2009) · Nature · doi:10.1038/nature08185 · Cited by 4,821
Self-citation(2013) · The Lancet · doi:10.1016/s0140-6736(12)62129-1 · Cited by 3,010
Rare-Variant Association Testing for Sequencing Data with the Sequence Kernel Association Test
Wu, M. C., Lee, S., Cai, T., Li, Y., Boehnke, M., & Lin, X. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.05.029 · Cited by 2,373
Schizophrenia as a Complex Trait: Evidence From a Meta-analysis of Twin Studies
Sullivan, P. F., Kendler, K. S., & Neale, M. C. (2003) · Archives of General Psychiatry · doi:10.1001/archpsyc.60.12.1187 · Cited by 2,356
Self-citationSporadic autism exomes reveal a highly interconnected protein network of de novo mutations
O’Roak, B. J., Vives, L., Girirajan, S., Karakoc, E., Krumm, N., Coe, B. P., Levy, R., Ko, A., Lee, C., Smith, J. D., et al. (2012) · Nature · doi:10.1038/nature10989 · Cited by 2,165
Lichtenstein, P., Yip, B. H., Björk, C., Pawitan, Y., Cannon, T. D., Sullivan, P. F., & Hultman, C. M. (2009) · The Lancet · doi:10.1016/s0140-6736(09)60072-6 · Cited by 2,125
Self-citationDe novo mutations revealed by whole-exome sequencing are strongly associated with autism
Sanders, S. J., Murtha, M. T., Gupta, A. R., Murdoch, J. D., Raubeson, M. J., Willsey, A. J., Ercan-Sencicek, A. G., DiLullo, N. M., Parikshak, N. N., Stein, J. L., et al. (2012) · Nature · doi:10.1038/nature10945 · Cited by 2,084
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
Cited by
Sorted by citations
Items 901–1,000 of 1,003
Common variants in the ARC gene are not associated with cognitive abilities
Myrum, C., Giddaluru, S., Jacobsen, K. K., Espeseth, T., Nyberg, L. H., Lundervold, A. J., Haavik, J., Nilsson, L., Reinvang, I., Steen, V. M., et al. (2015) · Brain and Behavior · doi:10.1002/brb3.376 · Cited by 10
Kovatch, P., Costa, A. B., Giles, Z., Fluder, E., Cho, H. M., & Mazurkova, S. (2015) · International Conference for High Performance Computing, Networking, Storage and Analysis (SC) · doi:10.1145/2807591.2807595 · Cited by 10
Schizophrenia Genetics: Building the Foundations of the Future
Tansey, K. E., Owen, M. J., & O’Donovan, M. C. (2014) · Schizophrenia Bulletin · doi:10.1093/schbul/sbu162 · Cited by 10
Rittenhouse, A. R., Ortiz-Miranda, S., & Jurczyk, A. (2021) · Neuronal Signaling · doi:10.1042/ns20180122 · Cited by 10
Transcriptomic and Proteomic Analysis of CRISPR/Cas9-Mediated ARC-Knockout HEK293 Cells
Wang, Y., Hsu, S.-H., Tsai, H.-Y., Cheng, F.-Y., & Cheng, M.-C. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23094498 · Cited by 10
GWAS, Cytomegalovirus Infection, and Schizophrenia
Grove, J., Børglum, A. D., & Pearce, B. D. (2014) · Current Behavioral Neuroscience Reports · doi:10.1007/s40473-014-0022-1 · Cited by 10
Konigorski, S., Yilmaz, Y. E., & Pischon, T. (2017) · PLoS ONE · doi:10.1371/journal.pone.0178504 · Cited by 10
Genomic and Imaging Biomarkers in Schizophrenia
Reddaway, J., Doherty, J. L., Lancaster, T. M., Linden, D. E. J., Walters, J., & Hall, J. (2018) · Current topics in behavioral neurosciences · doi:10.1007/7854_2018_52 · Cited by 10
The Sex Chromosome Hypothesis of Schizophrenia: Alive, Dead, or Forgotten? A Commentary and Review
Bache, W. K., & DeLisi, L. E. (2018) · Complex Psychiatry · doi:10.1159/000491489 · Cited by 10
Hu, T., Wang, Y.-C., Wu, C., Hsu, S.-H., Tsai, H.-Y., & Cheng, M.-C. (2020) · Frontiers in Genetics · doi:10.3389/fgene.2020.524258 · Cited by 10
Progress in mechanistically novel treatments for schizophrenia
Neef, J., & Palacios, D. S. (2021) · RSC Medicinal Chemistry · doi:10.1039/d1md00096a · Cited by 10
SERINC2increases the risk of bipolar disorder in the Chinese population
Dong, Y., Chen, J., Cheng, X., Cao, B., Chang, H., Li, X., Yang, C., Wu, Q., Sun, J., Manry, D., et al. (2021) · Depression and Anxiety · doi:10.1002/da.23186 · Cited by 10
Jensen, M., Tyryshkina, A., Pizzo, L., Smolen, C., Das, M., Huber, E., Krishnan, A., & Girirajan, S. (2021) · Genome Medicine · doi:10.1186/s13073-021-00982-z · Cited by 10
Lago, S. G., Tomasik, J., van Rees, G. F., Rustogi, N., Vázquez-Bourgón, J., Papiol, S., Suárez‐Pinilla, P., Crespo‐Facorro, B., & Bahn, S. (2022) · Brain Behavior and Immunity · doi:10.1016/j.bbi.2022.03.016 · Cited by 10
Exonic deletions in IMMP2L in schizophrenia with enhanced glycation stress subtype
Yoshikawa, A., Kushima, I., Miyashita, M., Suzuki, K., Iino, K., Toriumi, K., Horiuchi, Y., Kawaji, H., Ozaki, N., Itokawa, M., et al. (2022) · PLoS ONE · doi:10.1371/journal.pone.0270506 · Cited by 10
Pandit, S. A. (2025) · Routledge eBooks · doi:10.4324/9781003506249 · Cited by 10
Duan, J., Sanders, A. R., Moy, W., Drigalenko, E. I., Brown, E. C., Freda, J., Leites, C., Göring, H. H. H., MGS, & Gejman, P. V. (2015) · Human Molecular Genetics · doi:10.1093/hmg/ddv199 · Cited by 10
Proteomics in pharmaceutical research and development
Cutler, P., & Voshol, H. (2015) · PROTEOMICS - CLINICAL APPLICATIONS · doi:10.1002/prca.201400181 · Cited by 10
Ori, A. P. S., Bot, M. H. M., Molenhuis, R. T., Loohuis, L. M. O., & Ophoff, R. A. (2018) · Biological Psychiatry · doi:10.1016/j.biopsych.2018.08.019 · Cited by 10
Bartsch, J., Schott, B. H., & Behr, J. (2019) · Pharmacopsychiatry · doi:10.1055/a-0960-9846 · Cited by 10
Altered Expression of a Unique Set of Genes Reveals Complex Etiology of Schizophrenia
Kumar, A., Singh, H. N., Pareek, V., Raza, K., Pavan, K., Faiq, M. A., Mochan, S., Dantham, S., & Upadhyaya, A. D. (2019) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2019.00906 · Cited by 10
Fine‐mapping of ZDHHC2 identifies risk variants for schizophrenia in the Han Chinese population
Zhang, H., Li, X., Ma, C., Wang, K., Zhou, J., Chen, J., Wang, Y., & Shi, Y. (2020) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.1190 · Cited by 10
The Imbalanced Plasticity Hypothesis of Schizophrenia-Related Psychosis: A Predictive Perspective
Guterman, Y., Ataria, Y., & Silverstein, S. M. (2021) · Cognitive Affective & Behavioral Neuroscience · doi:10.3758/s13415-021-00911-y · Cited by 10
SCHIZOPHRENIA: THE SEARCH FOR GENETIC RISK FACTORS
Pomohaibo, V., Berezan, O. I., & Petrushov, A. (2019) · Psychology and Personality · doi:10.33989/2226-4078.2019.1.164024 · Cited by 10
Kopanitsa, M. V., van de Lagemaat, L. N., Afinowi, N. O., Strathdee, D., Strathdee, K. E., Fricker, D. G., Tuck, E. J., Elsegood, K. A., Croning, M. D. R., Komiyama, N. H., et al. (2018) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/500447 · Cited by 10
Self-citationChignon, A., & Lettre, G. (2025) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2024.118621 · Cited by 9
A review of post-GWAS studies in schizophrenia
Maserrat, S., & Cairns, M. J. (2025) · Translational Psychiatry · doi:10.1038/s41398-025-03656-1 · Cited by 10
Benachenhou, S., Laroui, A., Dionne, O., Rojas, D., Toupin, A., & Çaku, A. (2023) · International review of neurobiology · doi:10.1016/bs.irn.2023.08.011 · Cited by 9
Investigation of Recessive Effects in Schizophrenia Using Next‐Generation Exome Sequence Data
Curtis, D. (2015) · Annals of Human Genetics · doi:10.1111/ahg.12109 · Cited by 9
Genetics: Finding Genes for Schizophrenia
Flint, J., & Munafo, M. R. (2014) · Current Biology · doi:10.1016/j.cub.2014.07.018 · Cited by 9
Orchestration of Ion Channels and Transporters in Neocortical Development and Neurological Disorders
Bando, Y., Ishibashi, M., Yamagishi, S., Fukuda, A., & Sato, K. (2022) · Frontiers in Neuroscience · doi:10.3389/fnins.2022.827284 · Cited by 9
Wang, C., Horigane, S., Wakamori, M., Ueda, S., Kawabata, T., Fujii, H., Kushima, I., Kimura, H., Ishizuka, K., Nakamura, Y., et al. (2022) · Translational Psychiatry · doi:10.1038/s41398-022-01851-y · Cited by 9
The psychiatric risk gene BRD1 modulates mitochondrial bioenergetics by transcriptional regulation
Paternoster, V., Cömert, C., Kirk, L. S., la Cour, S. H., Fryland, T., Guerra, P. F., Stougaard, M., Nyengaard, J. R., Qvist, P., Bross, P., et al. (2022) · Translational Psychiatry · doi:10.1038/s41398-022-02053-2 · Cited by 9
Refisch, A., Komatsuzaki, S., Ungelenk, M., Schumann, A., Chung, H., Schilling, S. S., Jantzen, W., Schröder, S., Nöthen, M. M., Mühleisen, T. W., et al. (2022) · Genes · doi:10.3390/genes13112132 · Cited by 9
Ma, Y., Gao, K., Sun, X., Wang, J., Yang, Y., Wu, J., Chai, A., Li, Y., Liu, N., Yu, H., et al. (2024) · 中国科学通报：英文版 · doi:10.1016/j.scib.2024.02.013 · Cited by 9
Kang, S., Chee, I., Lee, K., & Lee, J. (2017) · Human Psychopharmacology Clinical and Experimental · doi:10.1002/hup.2562 · Cited by 9
Rare PDCD11 variations are not associated with risk of schizophrenia in J apan
Hoya, S., Watanabe, Y., Hishimoto, A., Nunokawa, A., Kaneko, N., Muratake, T., Shinmyo, N., Otsuka, I., Okuda, S., Inoue, E., et al. (2017) · Psychiatry and Clinical Neurosciences · doi:10.1111/pcn.12549 · Cited by 9
Curtis, D. (2018) · Psychiatric Genetics · doi:10.1097/ypg.0000000000000197 · Cited by 9
Synaptic combinatorial molecular mechanisms generate repertoires of innate and learned behaviorPreprint
Komiyama, N. H., van de Lagemaat, L. N., Stanford, L. E., Pettit, C. M., Strathdee, D., Strathdee, K. E., Fricker, D. G., Tuck, E. J., Elsegood, K. A., Ryan, T. J., et al. (2018) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/500389 · Cited by 9
Self-citationNon-additive effects of schizophrenia risk genes reflect convergent downstream functionPreprint
Deans, P. M., Seah, C., Johnson, J., García‐González, J., Townsley, K. G., Cao, E., Schrode, N., Stahl, E. A., O’Reilly, P. F., Huckins, L. M., et al. (2023) · medRxiv · doi:10.1101/2023.03.20.23287497 · Cited by 9
Self-citationThe WAVE complex in developmental and adulthood brain disorders
Kim, H.-G., Berdasco, C., Nairn, A. C., & Kim, Y. (2025) · Experimental & Molecular Medicine · doi:10.1038/s12276-024-01386-w · Cited by 8
Parker, E. M., Kindja, N. L., DeGiosio, R. A., Salisbury, R., Krivinko, J. M., Cheetham, C. E. J., MacDonald, M. L., Fan, W., Cheng, B., & Sweet, R. A. (2024) · Translational Psychiatry · doi:10.1038/s41398-024-03181-7 · Cited by 8
Genomics of Obsessive-Compulsive Disorder and Related Disorders
Crowley, J. J. (2022) · Psychiatric Clinics of North America · doi:10.1016/j.psc.2022.11.003 · Cited by 8
Sun, Y. F., Men, W., Fang, W., 周恩兴, Yang, W., Li, Z., Zheng, H., & Rao, Y. (2024) · Genetics · doi:10.1093/genetics/iyae047 · Cited by 8
Genetic and genomic analyses as a basis for new diagnostic nosologies
Gershon, E. S., & Grennan, K. S. (2015) · Dialogues in Clinical Neuroscience · doi:10.31887/dcns.2015.17.1/egershon · Cited by 8
Balu, D. T., & Coyle, J. T. (2017) · ACS Chemical Neuroscience · doi:10.1021/acschemneuro.7b00404 · Cited by 8
Construction of an Exome‐Wide Risk Score for Schizophrenia Based on a Weighted Burden Test
Curtis, D. (2017) · Annals of Human Genetics · doi:10.1111/ahg.12212 · Cited by 8
Horigane, S., Hamada, S., Kamijo, S., Yamada, H., Yamasaki, M., Watanabe, M., Bito, H., Ohtsuka, T., & Takemoto‐Kimura, S. (2020) · Neuroscience Research · doi:10.1016/j.neures.2020.06.003 · Cited by 8
Wang, Z., Zhu, Y., Ye, L., Li, Q., Guo, B., Zhao, H., Bao, X., Zhuo, Q., Yang, T., Li, Z., et al. (2020) · Schizophrenia · doi:10.1038/s41537-021-00159-y · Cited by 8
Openshaw, R. L., Pratt, J. A., & MORRIS, B. J. (2022) · Disease Models & Mechanisms · doi:10.1242/dmm.049310 · Cited by 8
Barbu, M. C., Viejo-Romero, M., Thng, G., Adams, M. J., Marwick, K. F. M., Grant, S. G. N., McIntosh, A. M., Lawrie, S. M., & Whalley, H. C. (2023) · Biological Psychiatry Global Open Science · doi:10.1016/j.bpsgos.2023.03.004 · Cited by 8
Self-citationA new conceptual framework for investigating complex genetic disease
Hussain, S. (2015) · Frontiers in Genetics · doi:10.3389/fgene.2015.00327 · Cited by 8
Rare genetic variants and schizophrenia
Flint, J. (2016) · Nature Neuroscience · doi:10.1038/nn.4271 · Cited by 8
Determination of candidate genes involved in schizophrenia using the whole-exome sequencing
Senormanci, O., Celik, S. K., Valipour, E., Dogan, V., & Senormanci, G. (2018) · Bratislavské lekárske listy/Bratislava medical journal · doi:10.4149/bll_2018_104 · Cited by 8
Girotti, M., Silva, J. D., George, C. M., & Morilak, D. A. (2019) · Neuropharmacology · doi:10.1016/j.neuropharm.2019.107791 · Cited by 8
Khavari, B., Mahmoudi, E., Geaghan, M. P., & Cairns, M. J. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21239182 · Cited by 8
Noh, Y. W., Yook, C., Kang, J., Lee, S., Kim, Y., Yang, E., Kim, H., & Kim, E. (2022) · Communications Biology · doi:10.1038/s42003-022-03813-y · Cited by 8
González‐Peñas, J., Arrojo, M., Paz, E., Brenlla, J., Páramo, M., & Costas, J. (2015) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32324 · Cited by 8
Genetic Rat Models for Schizophrenia
Ellenbroek, B. A., & Karl, T. (2015) · Handbook of behavioral neuroscience · doi:10.1016/b978-0-12-800981-9.00018-3 · Cited by 8
Yang, Z., Li, M., Hu, X., Xiang, B., Deng, W., Wang, Q., Wang, Y., Zhao, L., Ma, X., Sham, P. C., et al. (2017) · Translational Psychiatry · doi:10.1038/tp.2016.291 · Cited by 8
Minică, C. C., Genovese, G., Hultman, C. M., Pool, R., Vink, J. M., Neale, M. C., Dolan, C. V., & Neale, B. M. (2017) · Twin Research and Human Genetics · doi:10.1017/thg.2017.7 · Cited by 8
Self-citationExpression Analysis of CYFIP1 and CAMKK2 Genes in the Blood of Epileptic and Schizophrenic Patients
Sayad, A., Ranjbaran, F., Ghafouri‐Fard, S., Arsang‐Jang, S., & Taheri, M. N. (2018) · Journal of Molecular Neuroscience · doi:10.1007/s12031-018-1106-2 · Cited by 8
Schiff, E., Frampton, M., Ben-Yosef, N., Avila, B. E., Semplici, F., Pontikos, N., Bloom, S. L., McCartney, S. A., Vega, R., Lovat, L. B., et al. (2018) · Human Genetics · doi:10.1007/s00439-018-1927-7 · Cited by 8
Discovery of rare variants implicated in schizophrenia using next-generation sequencing
Rhoades, R. E., Jackson, F. L. C., & Teng, S. (2019) · Journal of Translational Genetics and Genomics · doi:10.20517/jtgg.2018.26 · Cited by 8
From Schizophrenia Genetics to Disease Biology: Harnessing New Concepts and Technologies
Duan, J., Sanders, A. R., & Gejman, P. V. (2019) · Journal of Psychiatry and Brain Science · doi:10.20900/jpbs.20190014 · Cited by 8
Convex combination sequence kernel association test for rare‐variant studies
Posner, D. C., Lin, H., Meigs, J. B., Kolaczyk, E. D., & Dupuis, J. (2020) · Genetic Epidemiology · doi:10.1002/gepi.22287 · Cited by 8
Adult neural stem cells and schizophrenia
Hu, L., & Zhang, L. (2022) · World Journal of Stem Cells · doi:10.4252/wjsc.v14.i3.219 · Cited by 8
Evaluation of chromatin accessibility in prefrontal cortex of schizophrenia cases and controls
Bryois, J., Garrett, M. E., Song, L., Safi, A., Giusti-Rodriguez, P., Johnson, G. D., Demur, A. B., Fullard, J. F., Roussos, P., Sklar, P., et al. (2017) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/141986 · Cited by 7
Self-citationPerspective: Revealing molecular secrets
Hyman, S. E. (2014) · Nature · doi:10.1038/508s20a · Cited by 7
Pathophysiological Roles of Auxiliary Calcium Channel α2δ Subunits
Hessenberger, M., Haddad, S., & Obermair, G. J. (2023) · Handbook of experimental pharmacology · doi:10.1007/164_2022_630 · Cited by 7
González‐Peñas, J., Amigo, J., Santomé, L., Sobrino, B., Brenlla, J., Agra, S., Paz, E., Páramo, M., Carracedo, Á., Arrojo, M., et al. (2016) · Schizophrenia Research · doi:10.1016/j.schres.2016.03.029 · Cited by 7
Leguay, D. (2016) · L Encéphale · doi:10.1016/j.encep.2016.05.007 · Cited by 7
Chang, H., Li, L., Peng, T., Li, M., Gao, L., & Xiao, X. (2016) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32502 · Cited by 7
Rampino, A., Torretta, S., Gelao, B., Veneziani, F., Iacoviello, M., Marakhovskaia, A., Masellis, R., Andriola, I., Sportelli, L., Pergola, G., et al. (2021) · European Psychiatry · doi:10.1192/j.eurpsy.2021.26 · Cited by 7
Cheng, J., Zhou, Q., Fu, J., Wei, C., Zhang, L., Khan, M. S. S., Lv, H., Anuchapreeda, S., & Fu, J. (2021) · 3 Biotech · doi:10.1007/s13205-021-02761-4 · Cited by 7
Pol-Fuster, J., Cañellas, F., Ruiz-Guerra, L., Medina-Dols, A., Bisbal-Carrió, B., Ortega-Vila, B., Llinàs, J., Hernández-Rodríguez, J., Lladó, J., Olmos, G., et al. (2021) · Scientific Reports · doi:10.1038/s41598-021-93555-4 · Cited by 7
A genetic risk score using human chromosomal-scale length variation can predict schizophrenia
Toh, C., & Brody, J. P. (2021) · Scientific Reports · doi:10.1038/s41598-021-97983-0 · Cited by 7
Waldron, S., Pass, R., Griesius, S., Mellor, J. R., Robinson, E. S. J., Thomas, K. L., Wilkinson, L. S., Humby, T., Hall, J., & Dwyer, D. M. (2022) · Genes Brain & Behavior · doi:10.1111/gbb.12797 · Cited by 7
Puvogel, S., Blanchard, K., Casas, B. S., Miller, R. L., Garrido-Jara, D., Arizabalos, S., Rehen, S. K., Sanhueza, M., & Palma, V. (2021) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2022.935360 · Cited by 7
Recent natural selection conferred protection against schizophrenia by non-antagonistic pleiotropy
González‐Peñas, J., de Hoyos, L., Díaz‐Caneja, C. M., Andreu-Bernabeu, Á., Stella, C., Gurriarán, X., Fañanás, L., Bobes, J., González-Pinto, A. M., Crespo‐Facorro, B., et al. (2023) · Scientific Reports · doi:10.1038/s41598-023-42578-0 · Cited by 7
Mitterœcker, P., & Merola, G. P. (2024) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2024.105636 · Cited by 7
Ishchenko, Y., Jeng, A. T., Feng, S., Nottoli, T., Manriquez-Rodriguez, C., Nguyen, K. K., Carrizales, M. G., Vitarelli, M. J., Corcoran, E. E., Greer, C. A., et al. (2024) · eLife · doi:10.7554/elife.103620.3 · Cited by 7
Secondary association of PDLIM5 with paranoid schizophrenia in Emirati patients
Moselhy, H. F., Eapen, V., Akawi, N. A., Younis, A. A., Salih, B., Othman, A. R., Yousef, S., Clarke, R. A., & Ali, B. R. (2015) · Meta Gene · doi:10.1016/j.mgene.2015.07.002 · Cited by 7
Genetics: Unravelling complexity
Wright, J. R. (2014) · Nature · doi:10.1038/508s6a · Cited by 7
Desbonnet, L., Cox, R. F., Tighe, O., Lai, D., Harvey, R. P., Waddington, J. L., & O’Tuathaigh, C. M. P. (2016) · Behavioural Brain Research · doi:10.1016/j.bbr.2016.11.049 · Cited by 7
Fernandez, A., Meechan, D. W., Baker, J. L., Karpinski, B. A., LaMantia, A., & Maynard, T. M. (2014) · Elsevier eBooks · doi:10.1016/b978-0-12-405945-0.00036-3 · Cited by 7
Fatima, A., Abdullah, U., Farooq, M., Mang, Y., Mehrjouy, M. M., Asif, M., Ali, Z., Tommerup, N., & Baig, S. M. (2021) · Genes · doi:10.3390/genes12121899 · Cited by 7
Neuropsychiatric genomics in precision medicine: diagnostics, gene discovery, and translation
Need, A. C., & Goldstein, D. B. (2016) · Dialogues in Clinical Neuroscience · doi:10.31887/dcns.2016.18.3/aneed · Cited by 7
Regulation of the Expression of the Psychiatric Risk Gene Cacna1c during Associative Learning
Sykes, L., Clifton, N. E., Hall, J., & Thomas, K. L. (2018) · Complex Psychiatry · doi:10.1159/000493917 · Cited by 7
Caponnetto, P., & Polosa, R. (2020) · Health Psychology Research · doi:10.4081/hpr.2020.9237 · Cited by 7
Update on the genetic architecture of schizophrenia
Degenhardt, F. (2020) · Medizinische Genetik · doi:10.1515/medgen-2020-2009 · Cited by 7
Ben‐Mahmoud, A., Jun, K. R., Gupta, V. R., Shastri, P., de la Fuente, A., Park, Y., Shin, K. C., Kim, C. A., da Cruz, A. D., Pinto, I. P., et al. (2022) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2022.979061 · Cited by 7
Jahan, M. S., Tsuzuki, T., Ito, T., Bhuiyan, M. E. R., Takahashi, I., Takamatsu, H., Kumanogoh, A., Negishi, T., & Yukawa, K. (2022) · IBRO Neuroscience Reports · doi:10.1016/j.ibneur.2022.11.002 · Cited by 7
Genetic underpinnings of left superior temporal gyrus thickness in patients with schizophrenia
Wolthusen, R. P. F., Haß, J., Walton, E., Turner, J. A., Roessner, V., Sponheim, S. R., Ho, B., Holt, D. J., Gollub, R. L., Calhoun, V. D., et al. (2015) · The World Journal of Biological Psychiatry · doi:10.3109/15622975.2015.1062915 · Cited by 7
A balanced translocation disrupting BCL2L10 and PNLDC1 segregates with affective psychosis
Bouwkamp, C. G., Kievit, A. J. A., Olgiati, S., Breedveld, G. J., Coesmans, M., Bonifati, V., & Kushner, S. A. (2016) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32465 · Cited by 7
Sleep, memory and schizophrenia
Manoach, D. S., & Stickgold, R. (2015) · Sleep Medicine · doi:10.1016/j.sleep.2015.01.009 · Cited by 7
Schizophrenia and human self-domestication: an evolutionary linguistics approachPreprint
Benítez‐Burraco, A., Pietro, L. D., Barba, M., & Lattanzi, W. (2016) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/072751 · Cited by 7
Polygenic selection underlies evolution of human brain structure and behavioral traitsPreprint
Beiter, E. R., Khramtsova, E. A., van der Merwe, C., Chimusa, E. R., Simonti, C., Stein, J., Thompson, P. M., Fisher, S. E., Stein, D. J., Capra, J. A., et al. (2017) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/164707 · Cited by 7
Chen, J., Landback, P., Arsala, D., Guzzetta, A., Xia, S., Atlas, J., Sosa, D., Zhang, Y. E., Cheng, J., Shen, B., et al. (2025) · Genome Research · doi:10.1101/gr.279498.124 · Cited by 7
TULP4, a novel E3 ligase gene, participates in neuronal migration as a candidate in schizophrenia
Bi, Y., Ren, D., Yuan, F., Zhang, Z., Zhou, D., Yi, X., Ji, L., Li, K., Yang, F., Wu, X., et al. (2023) · CNS Neuroscience & Therapeutics · doi:10.1111/cns.14423 · Cited by 6
Metadata
- Authors
- Purcell, S. M., Moran, J. L., Fromer, M., Ruderfer, D., Solovieff, N., Roussos, P., O’Dushlaine, C., Chambert, K., Bergen, S. E., Kähler, A., Duncan, L., Stahl, E., Genovese, G., Fernández, E., Collins, M. O., Komiyama, N. H., Choudhary, J. S., Magnusson, P. K. E., Banks, E., Shakir, K., Garimella, K., Fennell, T., DePristo, M., Grant, S. G. N., Haggarty, S. J., Gabriel, S., Scolnick, E. M., Lander, E. S., Hultman, C. M., Sullivan, P. F., McCarroll, S. A., & Sklar, P.
- Affiliations
- Broad Institute (US)
- Icahn School of Medicine at Mount Sinai (US)
- Massachusetts General Hospital (US)
- Karolinska Institutet (SE)
- KU Leuven (BE)
- Wellcome Sanger Institute (GB)
- University of Edinburgh (GB)
- University of North Carolina at Chapel Hill (US)
- Corresponding author
- Purcell, Shaun M.
- ORCID
- Purcell, Shaun M.
- Moran, Jennifer L.
- Fromer, Menachem
- Ruderfer, Douglas
- Solovieff, Nadia
- Roussos, Panos
- Bergen, Sarah E.
- Kähler, Anna
- Duncan, Laramie
- Genovese, Giulio
- Fernández, Esperanza
- Collins, Mark O.
- Komiyama, Noboru H.
- Choudhary, Jyoti S.
- Magnusson, Patrik K. E.
- Banks, Eric
- Garimella, Kiran
- Fennell, Tim
- Grant, Seth G. N.
- Haggarty, Stephen J.
- Gabriel, Stacey
- Scolnick, Edward M.
- Lander, Eric S.
- Sullivan, Patrick F.
- McCarroll, Steven A.
- Sklar, Pamela
- Venue
- Nature
- Published
- 2014-01-22
- Volume
- 506
- Issue
- 7487
- Pages
- 185-190
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- PMC
- PMC4136494
- OpenAlex
- W2132297623
- Cited by
- 1,385
- References
- 52
- Citations by year
- 2026: 23 · 2025: 39 · 2024: 34 · 2023: 60 · 2022: 96 · 2021: 98 · 2020: 123 · 2019: 145 · 2018: 158 · 2017: 169 · 2016: 169 · 2015: 158 · 2014: 113
- FWCI
- 154.88
- Type
- journal article
- Language
- en
- Open access
- Locations
- Nature (publishedVersion)
- PubMed (publishedVersion)
- White Rose Research Online (University of Leeds, The University of Sheffield, University of York) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Carolina Digital Repository (University of North Carolina at Chapel Hill) (submittedVersion)
- RePEc: Research Papers in Economics (submittedVersion)
- UNC Libraries
- Funders
- U.S. Department of Veterans Affairs (I01BX002395)
- Wellcome Trust
- European Commission (242167, 241995)
- Nederlandse Organisatie voor Wetenschappelijk Onderzoek (645-000-003)
- Karolinska Institutet
- Vetenskapsrådet (R01 MH077139)
- National Institutes of Health (241995)
- Stanley Center for Psychiatric Research, Broad Institute
- Medical Research Council
- National Heart, Lung, and Blood Institute
- National Institute of Mental Health (R01MH077139, T32MH017119, TT32MH017119, R01MH095088, RC2MH089905, R01MH095034, MH077139, R01MH091115, R01MH099126)
- National Human Genome Research Institute (U54HG003067, R01HG005827)
- 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 › Genomics and Rare Diseases
- Keywords
- schizophrenia, polygenic burden, exome sequencing, activity-regulated cytoskeleton-associated protein, postsynaptic density, FMRP, glutamatergic synapses, autism spectrum disorder
- MeSH terms
- Disks Large Homolog 4 Protein, Autistic Disorder, Cytoskeletal Proteins, Female, Humans, Male, Membrane Proteins, Intellectual Disability, Mutation, Nerve Tissue Proteins, Schizophrenia, Calcium Channels, Receptors, N-Methyl-D-Aspartate, Multifactorial Inheritance, Intracellular Signaling Peptides and Proteins, Fragile X Messenger Ribonucleoprotein 1, Genome-Wide Association Study, 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
