Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection
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Abstract
Schizophrenia is a debilitating psychiatric condition often associated with poor quality of life and decreased life expectancy. Lack of progress in improving treatment outcomes has been attributed to limited knowledge of the underlying biology, although large-scale genomic studies have begun to provide insights. We report a new genome-wide association study of schizophrenia (11,260 cases and 24,542 controls), and through meta-analysis with existing data we identify 50 novel associated loci and 145 loci in total. Through integrating genomic fine-mapping with brain expression and chromosome conformation data, we identify candidate causal genes within 33 loci. We also show for the first time that the common variant association signal is highly enriched among genes that are under strong selective pressures. These findings provide new insights into the biology and genetic architecture of schizophrenia, highlight the importance of mutation-intolerant genes and suggest a mechanism by which common risk variants persist in the population. A new GWAS of schizophrenia (11,260 cases and 24,542 controls) and meta-analysis identifies 50 new associated loci and 145 loci in total. The common variant association signal is highly enriched in mutation-intolerant genes and in regions under strong background selection.
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The set of 158 schizophrenia-associated genomic loci was used.
“Using the set of 158 schizophrenia-associated genomic loci, we used Brown’s method (Brown, 1975) to calculate a combined p-value across all probes located within each region (based on hg19) using the probe-level p-values and correlation coefficients between all pairs of probes calculated from the DNA methylation values.”
From DNA methylation meta-analysis reveals cellular alterations in psychosis and markers of treatment-resistant schizophrenia (2021) · cites this paper as Pardiñas et al., 2018
The Results (GWAS and meta-analysis; page unavailable) report 145 independent schizophrenia-associated loci, not 158. The Methods (Fine-mapping, Hi-C and SMR; page unavailable) likewise refer to 145 identified loci. The source therefore does not identify the attributed set of 158 loci. (LLM, conf=0.88)
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Experimental — accuracy not yet measuredLarge-scale GWAS have identified approximately 160 regions of the genome harboring common variants robustly associated with the diagnosis of schizophrenia, with evidence for a substantial polygenic component in signals that individually fall below genome-wide levels of significance.
“Large-scale genome-wide association studies (GWAS) have identified approximately 160 regions of the genome harboring common variants robustly associated with the diagnosis of schizophrenia, with evidence for a substantial polygenic component in signals that individually fall below genome-wide levels of significance (Pardiñas et al., 2018; Ripke et al., 2014)”
From DNA methylation meta-analysis reveals cellular alterations in psychosis and markers of treatment-resistant schizophrenia (2021) · cites this paper as Pardiñas et al., 2018
Split into 2 atoms — 1 confirmed, 1 partially supported, 0 disputed, 0 misattributed, 0 unverifiable. Expand the claim to see per-atom verdicts.
Experimental — accuracy not yet measuredThe GWAS regions were taken from the largest published schizophrenia GWAS to date by Pardiñas et al., 2018.
“The GWAS regions were taken from the largest published schizophrenia GWAS to date by Pardiñas et al., 2018 made available through the Psychiatric Genomics Consortium (PGC) website (https://www.med.unc.edu/pgc/results-and-downloads).”
From DNA methylation meta-analysis reveals cellular alterations in psychosis and markers of treatment-resistant schizophrenia (2021) · cites this paper as Pardiñas et al., 2018
Functionally important regions of the genome contribute to SNP-h2 to a different extent compared to the other annotations tested.
“In our evolution-focused SNP-h2 enrichment analysis, we detected an overabundance of genic and LoF intolerant loci in both EAS and EUR, suggesting that functionally important regions of the genome contribute to SNP-h2 to a different extent compared to the other annotations tested [10, 33, 40, 44].”
From Denisovan and Neanderthal archaic introgression differentially impacted the genetics of complex traits in modern populations (2022) · cites this paper as [44]
A more recent study demonstrated that when accounting for purifying selection there is no evidence for a significant Neandertal contribution.
“A more recent study subsequently demonstrated that when accounting for purifying selection there is no evidence for a significant Neandertal contribution [44].”
From Neandertal introgression partitions the genetic landscape of neuropsychiatric disorders and associated behavioral phenotypes (2022) · cites this paper as [44]
A similar immutability is seen in schizophrenia-related genes [39].
“A similar immutability is seen in schizophrenia-related genes [39].”
From Enrichment of a subset of Neanderthal polymorphisms in autistic probands and siblings (2024) · cites this paper as [39]
The cMAGMA input file was made comparable to H-MAGMA by using the same gene model and SNP list, with a window of 35 kb upstream and 10 kb downstream of each gene.
“We generated an input file for cMAGMA that is comparable to H-MAGMA. We used the same gene model (Gencode v26) and a SNP list used for H-MAGMA, and allowed a window of 35kb upstream and 10kb downstream of each gene as previously described16,52.”
From A computational tool (H-MAGMA) for improved prediction of brain-disorder risk genes by incorporating brain chromatin interaction profiles (2020) · cites this paper as [52]
SLC39A8 rs13107325, previously a moderately high credible SNP, is now strongly supported as causal with posterior probability greater than 0.99.
“These include SLC39A8 in which rs13107325, previously a moderately high credible SNP23, is now strongly supported as causal (PP > 0.99).”
From Mapping genomic loci implicates genes and synaptic biology in schizophrenia (2022) · cites this paper as [23]
The 1111 schizophrenia genes (and the 321 high-confidence subset) resembled known schizophrenia-associated genes in several ways, showing enrichment for translational regulators, cholinergic receptors, calcium channels, synaptic genes, schizophrenia differentially expressed genes, and loss-of-function-intolerant genes.
“As expected, they shared many characteristics with known SCZ-associated genes, being enriched in translational regulators, cholinergic receptors, calcium channels, synaptic genes, SCZ differentially expressed genes, and loss-of-function-intolerant genes (fig. S45) (47).”
From Comprehensive functional genomic resource and integrative model for the human brain (2018) · cites this paper as [47]
The schizophrenia genes are highly expressed in neurons, particularly excitatory ones.
“Lastly, we integrated the SCZ genes with single-cell profiles and found that they are highly expressed in neurons, particularly excitatory ones, consistent with the recent findings (Fig. 6E) (47).”
From Comprehensive functional genomic resource and integrative model for the human brain (2018) · cites this paper as [47]
The schizophrenia genes represent an increase from the 22 genes reported in an earlier QTL study and a larger number than can be linked by genomic proximity (176).
“Overall, the SCZ genes represent an increase from the 22 genes reported in an earlier QTL study and a larger number than can be linked simply by genomic proximity (176) (Fig. 6A) (11, 47).”
From Comprehensive functional genomic resource and integrative model for the human brain (2018) · cites this paper as [47]
For the 142 schizophrenia GWAS loci, the authors identified 1111 putative schizophrenia-associated genes covering 119 loci.
“In particular, for the 142 SCZ GWAS loci, we identified a set of 1111 putative SCZ-associated genes, covering 119 loci (the SCZ genes) (Fig. 6A) (47).”
From Comprehensive functional genomic resource and integrative model for the human brain (2018) · cites this paper as [47]
The majority of human genetic variants imparting risk for brain diseases are located within non-coding elements.
“The majority of human genetic variants imparting risk for brain diseases are located within non-coding elements1.”
From Neuronal and glial 3D chromatin architecture informs the cellular etiology of brain disorders (2021) · cites this paper as [1]
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Cites
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
Wang, K., Li, M., & Hakonarson, H. H. (2010) · Nucleic Acids Research · doi:10.1093/nar/gkq603 · Cited by 14,380 · see citing works
Second-generation PLINK: rising to the challenge of larger and richer datasets
Chang, C. C., Chow, C. C., Tellier, L. C., Vattikuti, S., Purcell, S. M., & Lee, J. J. (2015) · Gigascience · doi:10.1186/s13742-015-0047-8 · Cited by 12,709 · see citing works
Fast model-based estimation of ancestry in unrelated individuals
Alexander, D. H., Novembre, J., & Lange, K. (2009) · Genome Research · doi:10.1101/gr.094052.109 · Cited by 9,898 · see citing works
Analysis of protein-coding genetic variation in 60,706 humans
Exome Aggregation Consortium, Lek, M., Karczewski, K. J., Minikel, E. V., Samocha, K. E., Banks, E., Fennell, T., O’Donnell-Luria, A. H., Ware, J. S., Hill, A. J., et al. (2016) · Nature · doi:10.1038/nature19057 · Cited by 9,587 · see citing works
Self-citationBiological 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
KEGG as a reference resource for gene and protein annotation
Kanehisa, M., Sato, Y., Kawashima, M., Furumichi, M., & Tanabe, M. (2016) · Nucleic Acids Research · doi:10.1093/nar/gkv1070 · Cited by 7,387 · see citing works
O'Leary, N. A., Wright, M. W., Brister, J. R., Ciufo, S., Haddad, D., McVeigh, R., Rajput, B., Robbertse, B., Smith-White, B., Ako-Adjei, D., et al. (2016) · Nucleic Acids Research · doi:10.1093/nar/gkv1189 · Cited by 6,357 · see citing works
LD Score regression distinguishes confounding from polygenicity in genome-wide association studies
Schizophrenia Working Group of the Psychiatric Genomics Consortium, Bulik-Sullivan, B. K., Loh, P.-R., Finucane, H. K., Ripke, S., Yang, J., Patterson, N., Daly, M. J., Price, A. L., & Neale, B. M. (2015) · Nature Genetics · doi:10.1038/ng.3211 · Cited by 5,559 · 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
METAL: fast and efficient meta-analysis of genomewide association scans
Willer, C. J., Li, Y., & Abecasis, G. R. (2010) · Bioinformatics · doi:10.1093/bioinformatics/btq340 · Cited by 5,205 · see citing works
The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans
The GTEx Consortium, Ardlie, K. G., Deluca, D. S., Segrè, A. V., Sullivan, T. J., Young, T. R., Gelfand, E. T., Trowbridge, C. A., Maller, J. B., Tukiainen, T., et al. (2015) · Science · doi:10.1126/science.1262110 · Cited by 5,062 · see citing works
Meta-Analysis of 74,046 Individuals Identifies 11 New Susceptibility Loci for Alzheimer’s Disease
(EADI), E. A. D. I., Lambert, J.-C., (GERAD), G. A. E. R. I. A. D., Alzheimer's Disease Genetic Consortium (ADGC), (CHARGE), C. F. H. A. A. R. I. G. E., Ibrahim-Verbaas, C. A., Harold, D., Naj, A. C., Sims, R., Bellenguez, C., et al. (2013) · Nature Genetics · doi:10.1038/ng.2802 · Cited by 4,336 · see citing works
Self-citationAn atlas of genetic correlations across human diseases and traits
ReproGen Consortium, Bulik-Sullivan, B., Psychiatric Genomics Consortium, Genetic Consortium for Anorexia Nervosa of the Wellcome Trust Case Control Consortium 3, Finucane, H. K., Anttila, V., Gusev, A., Day, F. R., Loh, P.-R., Duncan, L., et al. (2015) · Nature Genetics · doi:10.1038/ng.3406 · Cited by 4,255 · see citing works
Fagerberg, L., Hallström, B. M., Oksvold, P., Kampf, C., Djureinovic, D., Odeberg, J., Habuka, M., Tahmasebpoor, S., Danielsson, A., Edlund, K., et al. (2014) · Molecular & Cellular Proteomics · doi:10.1074/mcp.m113.035600 · Cited by 3,665 · see citing works
MAGMA: Generalized Gene-Set Analysis of GWAS Data
de Leeuw, C. A., Mooij, J. M., Heskes, T., & Posthuma, D. (2015) · PLOS Computational Biology · doi:10.1371/journal.pcbi.1004219 · Cited by 3,653 · see citing works
Gene Ontology Consortium: going forward
The Gene Ontology Consortium (2015) · Nucleic Acids Research · doi:10.1093/nar/gku1179 · Cited by 3,492 · see citing works
Integration of summary data from GWAS and eQTL studies predicts complex trait gene targets
Zhu, Z., Zhang, F., Hu, H., Bakshi, A., Robinson, M. R., Powell, J. E., Montgomery, G. W., Goddard, M. E., Wray, N. R., Visscher, P. M., et al. (2016) · Nature Genetics · doi:10.1038/ng.3538 · Cited by 3,352 · see citing works
Self-citationHarold, D., Abraham, R., Hollingworth, P., Sims, R., Gerrish, A., Hamshere, M. L., Pahwa, J. S., Moskvina, V., Dowzell, K., Williams, A., et al. (2009) · Nature Genetics · doi:10.1038/ng.440 · Cited by 3,326 · see citing works
Self-citationIntegrating common and rare genetic variation in diverse human populations
The International HapMap 3 Consortium (2010) · Nature · doi:10.1038/nature09298 · Cited by 3,026 · see citing works
A Map of Recent Positive Selection in the Human Genome
Voight, B. F., Kudaravalli, S., Wen, X., & Pritchard, J. K. (2006) · PLoS Biology · doi:10.1371/journal.pbio.0040072 · Cited by 2,912 · see citing works
The NHGRI GWAS Catalog, a curated resource of SNP-trait associations
Welter, D., MacArthur, J., Morales, J., Burdett, T., Hall, P., Junkins, H., Klemm, A., Flicek, P., Manolio, T., Hindorff, L., et al. (2014) · Nucleic Acids Research · doi:10.1093/nar/gkt1229 · Cited by 2,707 · see citing works
Amberger, J. S., Bocchini, C. A., Schiettecatte, F., Scott, A. F., & Hamosh, A. (2015) · Nucleic Acids Research · doi:10.1093/nar/gku1205 · Cited by 2,691 · see citing works
Partitioning heritability by functional annotation using genome-wide association summary statistics
ReproGen Consortium, Finucane, H. K., Schizophrenia Working Group of the Psychiatric Genomics Consortium, The RACI Consortium, Bulik-Sullivan, B., Gusev, A., Trynka, G., Reshef, Y., Loh, P.-R., Anttila, V., et al. (2015) · Nature Genetics · doi:10.1038/ng.3404 · Cited by 2,604 · see citing works
Self-citationSCAN: 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
Schizophrenia: A Concise Overview of Incidence, Prevalence, and Mortality
McGrath, J., Saha, S., Chant, D., & Welham, J. (2008) · Epidemiologic Reviews · doi:10.1093/epirev/mxn001 · Cited by 2,280 · see citing works
Genome-wide detection and characterization of positive selection in human populations
The International HapMap Consortium, Sabeti, P. C., Varilly, P., Fry, B., Lohmueller, J., Hostetter, E., Cotsapas, C., Xie, X., Byrne, E. H., McCarroll, S. A., et al. (2007) · Nature · doi:10.1038/nature06250 · Cited by 2,131 · see citing works
Self-citationFMRP 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
Linkage disequilibrium in finite populations
Hill, W. G., & Robertson, A. (1968) · Theoretical and Applied Genetics · doi:10.1007/bf01245622 · Cited by 2,035 · see citing works
Genome-wide association study identifies five new schizophrenia loci
The Schizophrenia Psychiatric Genome-Wide Association Study (GWAS) Consortium (2011) · Nature Genetics · doi:10.1038/ng.940 · Cited by 1,919 · see citing works
Owen, M. J., Sawa, A., & Mortensen, P. B. (2016) · The Lancet · doi:10.1016/s0140-6736(15)01121-6 · Cited by 1,870 · see citing works
Self-citationThe effect of deleterious mutations on neutral molecular variation.
Charlesworth, B., Morgan, M. T., & Charlesworth, D. (1993) · Genetics · doi:10.1093/genetics/134.4.1289 · Cited by 1,831 · see citing works
Fast and accurate genotype imputation in genome-wide association studies through pre-phasing
Howie, B., Fuchsberger, C., Stephens, M., Marchini, J., & Abecasis, G. R. (2012) · Nature Genetics · doi:10.1038/ng.2354 · Cited by 1,737 · see citing works
Common variants conferring risk of schizophrenia
†Genetic Risk and Outcome in Psychosis (GROUP), Stefansson, H., Ophoff, R. A., Steinberg, S., Andreassen, O. A., Cichon, S., Rujescu, D., Werge, T., Pietiläinen, O. P. H., Mors, O., et al. (2009) · Nature · doi:10.1038/nature08186 · Cited by 1,677 · see citing works
Self-citationNeuregulin 1 and Susceptibility to Schizophrenia
Stefánsson, H., Pétursson, H., Sigurðsson, E., Steinthórsdóttir, V., Bjornsdottir, S., Sigmundsson, T., Ghosh, S., Brynjolfsson, J., Gunnarsdottir, S., Ivarsson, O., et al. (2002) · The American Journal of Human Genetics · doi:10.1086/342734 · Cited by 1,671 · 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-citationThe Danish Psychiatric Central Research Register
Mors, O., Perto, G. P., & Mortensen, P. B. (2011) · Scandinavian Journal of Public Health · doi:10.1177/1403494810395825 · Cited by 1,589 · see citing works
Self-citationLifetime Prevalence of Psychotic and Bipolar I Disorders in a General Population
Perälä, J., Suvisaari, J., Saarni, S. I., Kuoppasalmi, K. I., Isometsä, E. T., Pirkola, S. P., Partonen, T., Tuulio‐Henriksson, A., Hintikka, J., Kieseppä, T., et al. (2007) · Archives of General Psychiatry · doi:10.1001/archpsyc.64.1.19 · Cited by 1,523 · 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-citationPrevalence and architecture of de novo mutations in developmental disorders
Study, D. D. D. (2017) · Nature · doi:10.1038/nature21062 · Cited by 1,480 · see citing works
De Novo Gene Disruptions in Children on the Autistic Spectrum
Iossifov, I., Ronemus, M., Levy, D., Wang, Z., Hakker, I., Rosenbaum, J., Yamrom, B., Lee, Y.-H., Narzisi, G., Leotta, A., et al. (2012) · Neuron · doi:10.1016/j.neuron.2012.04.009 · Cited by 1,446 · see citing works
Insights into autism spectrum disorder genomic architecture and biology from 71 risk loci
Sanders, S. J., He, X., Willsey, A. J., Ercan-Sencicek, A. G., Samocha, K. E., Cicek, A. E., Murtha, M. T., Bal, V. H., Bishop, S. L., Dong, S., et al. (2015) · Neuron · doi:10.1016/j.neuron.2015.09.016 · Cited by 1,430 · 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-citationData quality control in genetic case-control association studies
Anderson, C. A., Pettersson, F. H., Clarke, G. M., Cardon, L. R., Morris, A. P., & Zondervan, K. T. (2010) · Nature Protocols · doi:10.1038/nprot.2010.116 · Cited by 1,318 · see citing works
Improved whole-chromosome phasing for disease and population genetic studies
Delaneau, O., Zagury, J., & Marchini, J. (2012) · Nature Methods · doi:10.1038/nmeth.2307 · Cited by 1,309 · see citing works
Disruption of two novel genes by a translocation co-segregating with schizophrenia
Millar, J. K. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.9.1415 · Cited by 1,254 · see citing works
The 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-citationPositive Natural Selection in the Human Lineage
Sabeti, P. C., Schaffner, S. F., Fry, B., Lohmueller, J., Varilly, P., Shamovsky, O., Palma, A., Mikkelsen, T. S., Altshuler, D., & Lander, E. S. (2006) · Science · doi:10.1126/science.1124309 · Cited by 1,157 · see citing works
The Nearly Neutral Theory of Molecular Evolution
Ohta, T. (1992) · Annual Review of Ecology and Systematics · doi:10.1146/annurev.es.23.110192.001403 · Cited by 1,149 · see citing works
FOXG1-Dependent Dysregulation of GABA/Glutamate Neuron Differentiation in Autism Spectrum Disorders
Mariani, J., Coppola, G., Zhang, P., Abyzov, A., Provini, L., Tomasini, L., Amenduni, M., Szekely, A., Palejev, D., Wilson, M., et al. (2015) · Cell · doi:10.1016/j.cell.2015.06.034 · Cited by 1,149 · see citing works
Cunningham, F., Amode, M. R., Barrell, D., Beal, K., Billis, K., Brent, S., Carvalho-Silva, D., Clapham, P., Coates, G., Fitzgerald, S., et al. (2015) · Nucleic Acids Research · doi:10.1093/nar/gku1010 · Cited by 1,115 · see citing works
A high-resolution map of human evolutionary constraint using 29 mammals
Broad Institute Sequencing Platform and Whole Genome Assembly Team, Lindblad-Toh, K., Baylor College of Medicine Human Genome Sequencing Center Sequencing Team, Genome Institute at Washington University, Garber, M., Zuk, O., Lin, M. F., Parker, B. J., Washietl, S., Kheradpour, P., et al. (2011) · Nature · doi:10.1038/nature10530 · Cited by 1,108 · see citing works
The genomic landscape of Neanderthal ancestry in present-day humans
Sankararaman, S., Mallick, S., Dannemann, M., Prüfer, K., Kelso, J., Pääbo, S., Patterson, N., & Reich, D. (2014) · Nature · doi:10.1038/nature12961 · Cited by 1,107 · see citing works
Gene 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 · see citing works
Self-citationPremature Mortality Among Adults With Schizophrenia in the United States
Olfson, M., Gerhard, T., Huang, C., Crystal, S., & Stroup, T. S. (2015) · JAMA Psychiatry · doi:10.1001/jamapsychiatry.2015.1737 · Cited by 1,083 · see citing works
DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) Consortium, Mahajan, A., Asian Genetic Epidemiology Network Type 2 Diabetes (AGEN-T2D) Consortium, South Asian Type 2 Diabetes (SAT2D) Consortium, Mexican American Type 2 Diabetes (MAT2D) Consortium, Type 2 Diabetes Genetic Exploration by Next-generation sequencing in multi-Ethnic Samples (T2D-GENES) Consortium, Go, M. J., Zhang, W., Below, J. E., Gaulton, K. J., et al. (2014) · Nature Genetics · doi:10.1038/ng.2897 · Cited by 1,034 · see citing works
Self-citationA framework for the interpretation of de novo mutation in human disease
Samocha, K. E., Robinson, E. B., Sanders, S. J., Stevens, C., Sabo, A., McGrath, L. M., Kosmicki, J. A., Rehnström, K., Mallick, S., Kirby, A., et al. (2014) · Nature Genetics · doi:10.1038/ng.3050 · Cited by 979 · 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
Transcriptional Regulatory Elements in the Human Genome
Maston, G. A., Evans, S. K., & Green, M. R. (2006) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.7.080505.115623 · Cited by 937 · see citing works
‘Rejuvenation’ protects neurons in mouse models of Parkinson’s disease
Chan, C. S., Guzmán, J. N., Ilijić, E., Mercer, J. N., Rick, C., Tkatch, T., Meredith, G. E., & Surmeier, D. J. (2007) · Nature · doi:10.1038/nature05865 · Cited by 899 · see citing works
Zheng, J., Erzurumluoglu, A. M., Elsworth, B. L., Kemp, J. P., Howe, L., Haycock, P. C., Hemani, G., Tansey, K., Laurin, C., Early Genetics and Lifecourse Epidemiology (EAGLE) Eczema Consortium, et al. (2017) · Bioinformatics · doi:10.1093/bioinformatics/btw613 · Cited by 869 · see citing works
A review of Parkinson's disease
Davie, C. A. (2008) · British Medical Bulletin · doi:10.1093/bmb/ldn013 · Cited by 858 · 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-citationThe National Collaborating Centre for Mental Health
Kendall, T., & Pilling, S. (2004) · UCL Discovery (University College London) · Cited by 840 · see citing works
HERITABILITY OF THRESHOLD CHARACTERS
Dempster, E. R., & Lerner, I. M. (1950) · Genetics · doi:10.1093/genetics/35.2.212 · Cited by 816 · see citing works
FINEMAP: efficient variable selection using summary data from genome-wide association studies
Benner, C., Spencer, C. C. A., Havulinna, A. S., Salomaa, V., Ripatti, S., & Pirinen, M. (2016) · Bioinformatics · doi:10.1093/bioinformatics/btw018 · Cited by 815 · see citing works
Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways
The Network and Pathway Analysis Subgroup of the Psychiatric Genomics Consortium (2015) · Nature Neuroscience · doi:10.1038/nn.3922 · Cited by 755 · see citing works
CrossMap: a versatile tool for coordinate conversion between genome assemblies
Zhao, H., Sun, Z., Wang, J., Huang, H., Kocher, J., & Wang, L. (2013) · Bioinformatics · doi:10.1093/bioinformatics/btt730 · Cited by 718 · see citing works
Detecting Natural Selection in Genomic Data
Vitti, J. J., Grossman, S. R., & Sabeti, P. C. (2013) · Annual Review of Genetics · doi:10.1146/annurev-genet-111212-133526 · Cited by 694 · see citing works
DISC1 and PDE4B Are Interacting Genetic Factors in Schizophrenia That Regulate cAMP Signaling
Millar, J. K., Pickard, B. S., Mackie, S., James, R., Christie, S., Buchanan, S. R., Malloy, M. P., Chubb, J. E., Huston, E., Baillie, G. S., et al. (2005) · Science · doi:10.1126/science.1112915 · Cited by 648 · see citing works
Self-citationDemographic history and rare allele sharing among human populations
Gravel, S., Henn, B. M., Gutenkunst, R. N., Indap, A. R., Marth, G., Clark, A. G., Yu, F., Gibbs, R. A., The 1000 Genomes Project, Bustamante, C. D., et al. (2011) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1019276108 · Cited by 625 · see citing works
Chromosome conformation elucidates regulatory relationships in developing human brain
Won, H., de la Torre-Ubieta, L., Stein, J. L., Parikshak, N. N., Huang, J., Opland, C. K., Gandal, M. J., Sutton, G. J., Hormozdiari, F., Lu, D., et al. (2016) · Nature · doi:10.1038/nature19847 · Cited by 584 · see citing works
Self-citationStatistical power and significance testing in large-scale genetic studies
Sham, P. C., & Purcell, S. M. (2014) · Nature Reviews Genetics · doi:10.1038/nrg3706 · Cited by 573 · see citing works
Physical health disparities and mental illness: the scandal of premature mortality
Thornicroft, G. (2011) · British Journal of Psychiatry · doi:10.1192/bjp.bp.111.092718 · Cited by 573 · see citing works
Wellcome Trust Case Control Consortium, Green, E. K., Grozeva, D., Jones, I., Jones, L., Kirov, G., Caesar, S., Gordon-Smith, K., Fraser, C., Forty, L., et al. (2010) · Molecular Psychiatry · doi:10.1038/mp.2009.49 · Cited by 526 · see citing works
Self-citationDisruption of the neurexin 1 gene is associated with schizophrenia
Rujescu, D., Ingason, A., Cichon, S., Pietiläinen, O. P. H., Barnes, M. R., Toulopoulou, T., Picchioni, M., Vassos, E., Ettinger, U., Bramon, E., et al. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddn351 · Cited by 471 · see citing works
Self-citationHaworth, C., Davis, O., & Plomin, R. (2012) · Twin Research and Human Genetics · doi:10.1017/thg.2012.91 · Cited by 467 · see citing works
Self-citationWidespread Genomic Signatures of Natural Selection in Hominid Evolution
McVicker, G., Gordon, D., Davis, C., & Green, P. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000471 · Cited by 456 · see citing works
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 · see citing works
Self-citationWray, N. R., Pergadia, M. L., Blackwood, D. H. R., Penninx, B. W. J. H., Gordon, S. D., Nyholt, D. R., Ripke, S., MacIntyre, D. J., McGhee, K. A., Maclean, A. W., et al. (2012) · Molecular Psychiatry · doi:10.1038/mp.2010.109 · Cited by 444 · see citing works
Self-citationIncreased 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-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 · see citing works
Self-citationSystems biology and gene networks in neurodevelopmental and neurodegenerative disorders
Parikshak, N. N., Gandal, M. J., & Geschwind, D. H. (2015) · Nature Reviews Genetics · doi:10.1038/nrg3934 · Cited by 430 · see citing works
Self-citationThe Genetic Cost of Neanderthal Introgression
Harris, K., & Nielsen, R. (2016) · Genetics · doi:10.1534/genetics.116.186890 · Cited by 419 · see citing works
Detection of human adaptation during the past 2000 years
Field, Y., Boyle, E. A., Telis, N., Gao, Z., Gaulton, K. J., Golan, D., Yengo, L., Rocheleau, G., Froguel, P., McCarthy, M. I., et al. (2016) · Science · doi:10.1126/science.aag0776 · Cited by 383 · see citing works
Identifying Recent Adaptations in Large-Scale Genomic Data
Grossman, S. R., Andersen, K. G., Shlyakhter, I., Tabrizi, S., Winnicki, S., Yen, A., Park, D. J., Griesemer, D., Karlsson, E. K., Wong, S. H., et al. (2013) · Cell · doi:10.1016/j.cell.2013.01.035 · Cited by 368 · see citing works
Accounting for ancestry: population substructure and genome-wide association studies
Tian, C., Gregersen, P. K., & Seldin, M. F. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddn268 · Cited by 368 · see citing works
Detecting Marker-Disease Association by Testing for Hardy-Weinberg Disequilibrium at a Marker Locus
Nielsen, D. M., Ehm, M. G., & Weir, B. S. (1998) · The American Journal of Human Genetics · doi:10.1086/302114 · Cited by 366 · see citing works
Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel
Huang, J., Howie, B., McCarthy, S., Memari, Y., Walter, K., Min, J. L., Danecek, P., Malerba, G., Trabetti, E., Zheng, H., et al. (2015) · Nature Communications · doi:10.1038/ncomms9111 · Cited by 346 · see citing works
Self-citationKosmicki, J. A., Samocha, K. E., Howrigan, D. P., Sanders, S. J., Slowikowski, K., Lek, M., Karczewski, K. J., Cutler, D. J., Devlin, B., Roeder, K., et al. (2017) · Nature Genetics · doi:10.1038/ng.3789 · Cited by 340 · see citing works
A Better Coefficient of Determination for Genetic Profile Analysis
Lee, S., Goddard, M. E., Wray, N. R., & Visscher, P. M. (2012) · Genetic Epidemiology · doi:10.1002/gepi.21614 · Cited by 338 · see citing works
Self-citationPower, R. A., Kyaga, S., Uher, R., MacCabe, J. H., Långström, N., Landen, M., McGuffin, P., Lewis, C. M., Lichtenstein, P., & Svensson, A. C. (2013) · JAMA Psychiatry · doi:10.1001/jamapsychiatry.2013.268 · Cited by 336 · see citing works
Self-citationSLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation
Park, J. H., Hogrebe, M., Grüneberg, M., Chesne, I. D., von der Heiden, A., Reunert, J., Schlingmann, K. P., Boycott, K. M., Beaulieu, C. L., Mhanni, A. A., et al. (2015) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2015.11.003 · Cited by 315 · see citing works
The effect of recombination on background selection
Nordborg, M., Charlesworth, B., & Charlesworth, D. (1996) · Genetics Research · doi:10.1017/s0016672300033619 · Cited by 312 · see citing works
The Effects of Deleterious Mutations on Evolution at Linked Sites
Charlesworth, B. (2012) · Genetics · doi:10.1534/genetics.111.134288 · Cited by 304 · see citing works
Quantitative proteomics of the Cav2 channel nano-environments in the mammalian brain
Müller, C. S., Haupt, A., Bildl, W., Schindler, J., Knaus, H., Meissner, M., Rammner, B., Striessnig, J., Flockerzi, V., Fakler, B., et al. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1005940107 · Cited by 299 · see citing works
Brisbane Adolescent Twin Study: Outline of study methods and research projects
Wright, M., & Martin, N. (2004) · Australian Journal of Psychology · doi:10.1080/00049530410001734865 · Cited by 288 · see citing works
Self-citationThe statistical properties of gene-set analysis
de Leeuw, C., Neale, B. M., Heskes, T., & Posthuma, D. (2016) · Nature Reviews Genetics · doi:10.1038/nrg.2016.29 · Cited by 286 · see citing works
Evolutionary and Physiological Importance of Hub Proteins
Batada, N. N., Hurst, L. D., & Tyers, M. (2005) · PLoS Computational Biology · doi:10.1371/journal.pcbi.0020088 · Cited by 284 · see citing works
Fernández, E., Collins, M. O., Uren, R. T., Kopanitsa, M. V., Komiyama, N. H., Croning, M. D. R., Zografos, L., Armstrong, J. D., Choudhary, J. S., & Grant, S. G. N. (2009) · Molecular Systems Biology · doi:10.1038/msb.2009.27 · Cited by 275 · see citing works
Genome-wide analysis of over 106 000 individuals identifies 9 neuroticism-associated loci
Smith, D. J., Escott-Price, V, Davies, G., Bailey, M. E. S., Colodro-Conde, L., Ward, J., Vedernikov, A., Marioni, R., Cullen, B., Lyall, D., et al. (2016) · Molecular Psychiatry · doi:10.1038/mp.2016.49 · Cited by 259 · see citing works
Self-citationSchizophrenia as a Genetic Morphism
Huxley, J. S., Mayr, E., Osmond, H., & Hoffer, A. (1964) · Nature · doi:10.1038/204220a0 · Cited by 250 · see citing works
Reappraising the long-term course and outcome of psychotic disorders: the AESOP-10 study
Morgan, C., Lappin, J., Heslin, M., Donoghue, K., Lomas, B., Reininghaus, U., Onyejiaka, A., Croudace, T., Jones, P. B., Murray, R. M., et al. (2014) · Psychological Medicine · doi:10.1017/s0033291714000282 · Cited by 248 · see citing works
Rands, C. M., Meader, S., Ponting, C. P., & Lunter, G. A. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1004525 · Cited by 247 · 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-citationEvaluation of diagnostic procedures in Swedish patients with schizophrenia and related psychoses
Ekholm, B., Ekholm, A., Adolfsson, R., Vares, M., Ösby, U., Sedvall, G. C., & Jönsson, E. G. (2005) · Nordic Journal of Psychiatry · doi:10.1080/08039480500360906 · Cited by 242 · see citing works
Copy number variation in schizophrenia in Sweden
Szatkiewicz, J., O'Dushlaine, C., Chen, G., Chambert, K., Moran, J. L., Neale, B. M., Fromer, M., Ruderfer, D. M., Akterin, S., Bergen, S. E., et al. (2014) · Molecular Psychiatry · doi:10.1038/mp.2014.40 · Cited by 240 · see citing works
Self-citationCommon variants on 8p12 and 1q24.2 confer risk of schizophrenia
Shi, Y., Li, Z., Xu, Q., Wang, T., Li, T., Shen, J., Zhang, F., Chen, J., Zhou, G., Ji, W., et al. (2011) · Nature Genetics · doi:10.1038/ng.980 · Cited by 234 · see citing works
Self-citationSelection at Linked Sites Shapes Heritable Phenotypic Variation in C. elegans
Rockman, M. V., Skrovanek, S. M., & Kruglyak, L. (2010) · Science · doi:10.1126/science.1194208 · Cited by 233 · see citing works
Eyre‐Walker, A. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0906182107 · Cited by 231 · see citing works
Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures
Carvill, G. L., McMahon, J. M., Schneider, A., Zemel, M., Myers, C. T., Saykally, J., Nguyen, J., Robbiano, A., Zara, F., Specchio, N., et al. (2015) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2015.02.016 · Cited by 227 · see citing works
Schizophrenia as a Genetic Morphism
Hoffer, A. (1965) · Nature · doi:10.1038/208306a0 · Cited by 224 · see citing works
Natural Selection on Genes that Underlie Human Disease Susceptibility
Blekhman, R., Man, O., Herrmann, L., Boyko, A. R., Indap, A. R., Kosiol, C., Bustamante, C. D., Teshima, K. M., & Przeworski, M. (2008) · Current Biology · doi:10.1016/j.cub.2008.04.074 · Cited by 222 · see citing works
RBFOX1 regulates both splicing and transcriptional networks in human neuronal development
Fogel, B. L., Wexler, E., Wahnich, A., Friedrich, T., Vijayendran, C., Gao, F., Parikshak, N., Konopka, G., & Geschwind, D. H. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds240 · Cited by 216 · see citing works
Self-citationThe Mouse Genome Database: integration of and access to knowledge about the laboratory mouse
Blake, J. A., Bult, C. J., Eppig, J. T., Kadin, J. A., Richardson, J. E., & The Mouse Genome Database Group (2013) · Nucleic Acids Research · doi:10.1093/nar/gkt1225 · Cited by 210 · see citing works
Comeron, J. M., Williford, A., & Kliman, R. M. (2007) · Heredity · doi:10.1038/sj.hdy.6801059 · Cited by 207 · see citing works
Novel Findings from CNVs Implicate Inhibitory and Excitatory Signaling Complexes in Schizophrenia
Pocklington, A. J., Rees, E., Walters, J. T. R., Han, J., Kavanagh, D. H., Chambert, K. D., Holmans, P., Moran, J. L., McCarroll, S. A., Kirov, G., et al. (2015) · Neuron · doi:10.1016/j.neuron.2015.04.022 · Cited by 193 · see citing works
Self-citationSLiM: Simulating Evolution with Selection and Linkage
Messer, P. W. (2013) · Genetics · doi:10.1534/genetics.113.152181 · Cited by 191 · see citing works
The role of genetic variation in the causation of mental illness: an evolution-informed framework
Uher, R. (2009) · Molecular Psychiatry · doi:10.1038/mp.2009.85 · Cited by 189 · see citing works
GROUP investigators, Børglum, A. D., Demontis, D., Grove, J., Pallesen, J., Hollegaard, M. V., Pedersen, C. B., Hedemand, A., Mattheisen, M., Uitterlinden, A., et al. (2014) · Molecular Psychiatry · doi:10.1038/mp.2013.2 · Cited by 186 · see citing works
Self-citationEvidence that duplications of 22q11.2 protect against schizophrenia
Wellcome Trust Case Control Consortium, Rees, E., Kirov, G., Sanders, A., Walters, J. T. R., Chambert, K. D., Shi, J., Szatkiewicz, J., O'Dushlaine, C., Richards, A. L., et al. (2014) · Molecular Psychiatry · doi:10.1038/mp.2013.156 · Cited by 183 · see citing works
Self-citationSynaptic multiprotein complexes associated with 5‐HT2C receptors: a proteomic approach
Bécamel, C., Alonso, G., Galéotti, N., Demey, E., Jouin, P., Ullmer, C., Dumuis, A., Bockaert, J., & Marin, P. (2002) · The EMBO Journal · doi:10.1093/emboj/21.10.2332 · Cited by 173 · see citing works
Dudbridge, F. (2016) · Genetic Epidemiology · doi:10.1002/gepi.21966 · Cited by 156 · see citing works
Stephan, W. (2015) · Molecular Ecology · doi:10.1111/mec.13288 · Cited by 156 · see citing works
Brain-specific Foxp1 deletion impairs neuronal development and causes autistic-like behaviour
Bacon, C., Schneider, M., Le Magueresse, C., Froehlich, H., Sticht, C., Gluch, C., Monyer, H., & Rappold, G. A. (2015) · Molecular Psychiatry · doi:10.1038/mp.2014.116 · Cited by 148 · see citing works
WINNEY, B. J., Boumertit, A., Day, T., Davison, D., Echeta, C., Evseeva, I., Hutnik, K., Leslie, S., Nicodemus, K. K., Røyrvik, E. C., et al. (2011) · European Journal of Human Genetics · doi:10.1038/ejhg.2011.127 · Cited by 139 · see citing works
Xu, K., Schadt, E. E., Pollard, K. S., Roussos, P., & Dudley, J. T. (2015) · Molecular Biology and Evolution · doi:10.1093/molbev/msv031 · Cited by 133 · see citing works
Common 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 · see citing works
Self-citationPocklington, A. J., Cumiskey, M. A., Armstrong, J. D., & Grant, S. G. N. (2006) · Molecular Systems Biology · doi:10.1038/msb4100041 · Cited by 130 · see citing works
Self-citationGenetic Markers of Human Evolution Are Enriched in Schizophrenia
Srinivasan, S., Bettella, F., Mattingsdal, M., Wang, Y., Witoelar, A., Schork, A. J., Thompson, W. K., Zuber, V., Winsvold, B. S., Zwart, J.-A., et al. (2016) · Biological Psychiatry · doi:10.1016/j.biopsych.2015.10.009 · Cited by 129 · see citing works
Self-citationTakata, A., Ionita‐Laza, I., Gogos, J. A., Xu, B., & Karayiorgou, M. (2016) · Neuron · doi:10.1016/j.neuron.2016.02.024 · Cited by 126 · see citing works
Detecting recent selective sweeps while controlling for mutation rate and background selection
Huber, C. D., DeGiorgio, M., Hellmann, I., & Nielsen, R. (2015) · Molecular Ecology · doi:10.1111/mec.13351 · Cited by 124 · see citing works
Selection and Adaptation in the Human Genome
Fu, W., & Akey, J. M. (2013) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-091212-153509 · Cited by 123 · see citing works
Including known covariates can reduce power to detect genetic effects in case-control studies
Pirinen, M., Donnelly, P., & Spencer, C. C. A. (2012) · Nature Genetics · doi:10.1038/ng.2346 · Cited by 117 · see citing works
Shoichet, S. A., Kunde, S., Viertel, P., et al. (2005) · Human Genetics · doi:10.1007/s00439-005-1310-3 · Cited by 117 · see citing works
Genetic Recombination and Molecular EvolutionPreprint
Charlesworth, B., Betancourt, A. J., Kaiser, V. B., & Gordo, I. (2009) · Cold Spring Harbor Symposia on Quantitative Biology · doi:10.1101/sqb.2009.74.015 · Cited by 111 · see citing works
Learning Natural Selection from the Site Frequency Spectrum
Ronen, R., Udpa, N., Halperin, E., & Bafna, V. (2013) · Genetics · doi:10.1534/genetics.113.152587 · Cited by 109 · see citing works
The evolutionary paradox and the missing heritability of schizophrenia
van Dongen, J., & Boomsma, D. I. (2013) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32135 · Cited by 106 · see citing works
Common variant at 16p11.2 conferring risk of psychosis
Steinberg, S., de Jong, S., Mattheisen, M., Costas, J., Demontis, D., Jamain, S., Pietiläinen, O. P. H., Lin, K., Papiol, S., Huttenlocher, J., et al. (2014) · Molecular Psychiatry · doi:10.1038/mp.2012.157 · Cited by 104 · see citing works
Self-citationHuman disease genes: patterns and predictions
Smith, N. G. C., & Eyre‐Walker, A. (2003) · Gene · doi:10.1016/s0378-1119(03)00772-8 · Cited by 99 · see citing works
Choi, K., Wykes, T., & Kurtz, M. M. (2013) · The British Journal of Psychiatry · doi:10.1192/bjp.bp.111.107359 · Cited by 99 · see citing works
Fertility and number of children in patients with Alzheimer's disease
Ptok, U., Barkow, K., & Heun, R. (2002) · Archives of Women s Mental Health · doi:10.1007/s00737-002-0142-6 · Cited by 98 · see citing works
Delays in neuronal differentiation in Mash1/Ascl1 mutants
Pattyn, A., Guillemot, F., & Brunet, J. (2006) · Developmental Biology · doi:10.1016/j.ydbio.2006.03.008 · Cited by 90 · see citing works
MacLean, C., Hong, N. C., & Prendergast, J. G. D. (2015) · Molecular Biology and Evolution · doi:10.1093/molbev/msv172 · Cited by 84 · see citing works
Acetylcholinesterase inhibitors for schizophrenia
Singh, J. A., Kour, K., & Jayaram, M. (2012) · Cochrane Database of Systematic Reviews · doi:10.1002/14651858.cd007967.pub2 · Cited by 84 · see citing works
Robustness of genome-wide scanning using archived dried blood spot samples as a DNA source
Hollegaard, M. V., Grove, J., Grauholm, J., Kreiner-Møller, E., Bønnelykke, K., Nørgaard, M., Benfield, T. L., Nørgaard-Pedersen, B., Mortensen, P. B., Mors, O., et al. (2011) · BMC Genetics · doi:10.1186/1471-2156-12-58 · Cited by 83 · see citing works
Self-citationZuvich, R. L., Armstrong, L. L., Bielinski, S. J., Bradford, Y., Carlson, C. S., Crawford, D. C., Crenshaw, A., de Andrade, M., Doheny, K. F., Haines, J. L., et al. (2011) · Genetic Epidemiology · doi:10.1002/gepi.20639 · Cited by 82 · see citing works
Recombination affects accumulation of damaging and disease-associated mutations in human populations
Hussin, J., Hodgkinson, A., Idaghdour, Y., Grenier, J., Goulet, J.-P., Gbeha, E., Hip-Ki, E., & Awadalla, P. (2015) · Nature Genetics · doi:10.1038/ng.3216 · Cited by 81 · see citing works
Schizophrenia as one extreme of a sexually selected fitness indicator
Shaner, A. L., Miller, G. F., & Mintz, J. (2003) · Schizophrenia Research · doi:10.1016/j.schres.2003.09.014 · Cited by 75 · see citing works
Background Selection 20 Years on
Charlesworth, B. (2013) · Journal of Heredity · doi:10.1093/jhered/ess136 · Cited by 71 · see citing works
Distilling Pathophysiology from Complex Disease Genetics
Chakravarti, A., Clark, A. G., & Mootha, V. K. (2013) · Cell · doi:10.1016/j.cell.2013.09.001 · Cited by 69 · see citing works
Improving the Power of GWAS and Avoiding Confounding from Population Stratification with PC-Select
Tucker, G., Price, A. L., & Berger, B. (2014) · Genetics · doi:10.1534/genetics.114.164285 · Cited by 64 · see citing works
Whitworth, K. W., Baird, D. D., Stene, L. C., Skjærven, R., & Longnecker, M. P. (2010) · Diabetologia · doi:10.1007/s00125-010-2003-6 · Cited by 63 · see citing works
Bouaziz, M., Ambroise, C., & Guedj, M. (2011) · PLoS ONE · doi:10.1371/journal.pone.0028845 · Cited by 63 · see citing works
Unbiased estimation of odds ratios: combining genomewide association scans with replication studies
Bowden, J., & Dudbridge, F. (2009) · Genetic Epidemiology · doi:10.1002/gepi.20394 · Cited by 62 · see citing works
Birth-Cohort Effects in the Association Between Personality and Fertility
Jokela, M. M. (2012) · Psychological Science · doi:10.1177/0956797612439067 · Cited by 62 · see citing works
Pers, T. H., Timshel, P. N., Ripke, S., Sullivan, P. F., O’Donovan, M. C., Franke, L., & Hirschhorn, J. N. (2016) · Human Molecular Genetics · doi:10.1093/hmg/ddw007 · Cited by 60 · see citing works
Self-citationPointwise testing with functional data using the Westfall-Young randomization method
Cox, D. D., & Lee, J. S. (2008) · Biometrika · doi:10.1093/biomet/asn021 · Cited by 60 · see citing works
Recent genomic heritage in Scotland
Amador, C., Huffman, J. E., Trochet, H., Campbell, A. I., Porteous, D. J., Scotland, G., Wilson, J. F., Hastie, N. D., Vitart, V., Hayward, C., et al. (2015) · BMC Genomics · doi:10.1186/s12864-015-1605-2 · Cited by 52 · see citing works
Self-citationExome 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 · see citing works
Self-citationHuman adaptation and population differentiation in the light of ancient genomes
Key, F. M., Fu, Q., Romagné, F., Lachmann, M., & Andrés, A. M. (2016) · Nature Communications · doi:10.1038/ncomms10775 · Cited by 43 · see citing works
Dikow, N., Maas, B., Karch, S., Granzow, M., Janssen, J. W. G., Jauch, A. S., Hinderhofer, K., Sutter, C., Schubert‐Bast, S., Anderlid, B. M., et al. (2014) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.36761 · Cited by 43 · see citing works
Liu, J., Ogden, A. G., Comery, T., Spiros, Ä., Roberts, P., & Geerts, H. (2014) · CPT Pharmacometrics & Systems Pharmacology · doi:10.1038/psp.2014.7 · Cited by 35 · see citing works
Hilner, J. E., Perdue, L., Sides, E. G., Pierce, J. J., Wägner, A. M., Aldrich, A., Loth, A., Albret, L., Wagenknecht, L. E., Nierras, C. R., et al. (2010) · Clinical Trials · doi:10.1177/1740774510373497 · Cited by 35 · see citing works
Erratum: Genome-wide analysis of over 106 000 individuals identifies 9 neuroticism-associated loci
Smıth, D. J., Escott‐Price, V., Davies, G. E., Bailey, M. E. S., Colodro‐Conde, L., Ward, J., Vedernikov, A., Marioni, R. E., Cullen, B., Lyall, D. M., et al. (2016) · Molecular Psychiatry · doi:10.1038/mp.2016.177 · Cited by 33 · see citing works
Self-citationHamshere, 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. (2013) · Molecular Psychiatry · doi:10.1038/mp.2012.89 · Cited by 26 · see citing works
Self-citationPeloso, G. M., & Lunetta, K. L. (2011) · BMC Genetics · doi:10.1186/1471-2156-12-64 · Cited by 21 · see citing works
Couchman, L., Morgan, P. E., Spencer, E. P., et al. (2010) · Therapeutic Drug Monitoring · doi:10.1097/ftd.0b013e3181f0a1a2 · Cited by 21 · see citing works
Complex trait architecture: the pleiotropic model revisited
North, T.-L., & Beaumont, M. (2015) · Scientific Reports · doi:10.1038/srep09351 · Cited by 12 · see citing works
Linkage disequilibrium among neutral mutant alleles in finite population
Hill, W. G. (1976) · Advances in Applied Probability · doi:10.1017/s0001867800041227 · Cited by 1 · see citing works
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Mapping genomic loci implicates genes and synaptic biology in schizophrenia
Trubetskoy, V., Pardiñas, A. F., Qi, T., Panagiotaropoulou, G., Awasthi, S., Bigdeli, T. B., Bryois, J., Chen, C.-Y., Dennison, C. A., Hall, L. S., et al. (2022) · Nature · doi:10.1038/s41586-022-04434-5 · Cited by 2,964 · see citing works
Self-citationIdentification of common genetic risk variants for autism spectrum disorder
Autism Spectrum Disorder Working Group of the Psychiatric Genomics Consortium, Grove, J., BUPGEN, Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium, 23andMe Research Team, Ripke, S., Als, T. D., Mattheisen, M., Walters, R. K., Won, H., et al. (2019) · Nature Genetics · doi:10.1038/s41588-019-0344-8 · Cited by 2,421 · see citing works
Self-citationMullins, N., Forstner, A. J., O’Connell, K. S., Coombes, B., Coleman, J. R. I., Qiao, Z., Als, T. D., Bigdeli, T. B., Børte, S., Bryois, J., et al. (2021) · Nature Genetics · doi:10.1038/s41588-021-00857-4 · Cited by 1,517 · see citing works
Self-citationTranscriptome-scale spatial gene expression in the human dorsolateral prefrontal cortex
Maynard, K. R., Collado-Torres, L., Weber, L. M., Uytingco, C., Barry, B. K., Williams, S. R., Catallini, J. L., Tran, M. N., Besich, Z., Tippani, M., et al. (2021) · Nature Neuroscience · doi:10.1038/s41593-020-00787-0 · Cited by 1,222 · see citing works
Transcriptome-wide isoform-level dysregulation in ASD, schizophrenia, and bipolar disorder
Gandal, M. J., Zhang, P., Hadjimichael, E., Walker, R. L., Chen, C., Liu, S., Won, H., van Bakel, H., Varghese, M., Wang, Y., et al. (2018) · Science · doi:10.1126/science.aat8127 · Cited by 1,247 · see citing works
Self-citationComprehensive functional genomic resource and integrative model for the human brain
Wang, D., Liu, S., Warrell, J., Won, H., Shi, X., Navarro, F. C. P., Clarke, D., Gu, M., Emani, P., Yang, Y. T., et al. (2018) · Science · doi:10.1126/science.aat8464 · Cited by 965 · see citing works
Self-citationSynGO: An Evidence-Based, Expert-Curated Knowledge Base for the Synapse
Koopmans, F., van Nierop, P., Andres-Alonso, M., Byrnes, A., Cijsouw, T., Coba, M. P., Cornelisse, L. N., Farrell, R. J., Goldschmidt, H. L., Howrigan, D. P., et al. (2019) · Neuron · doi:10.1016/j.neuron.2019.05.002 · Cited by 938 · see citing works
Trujillo, C. A., Gao, R., Negraes, P. D., Gu, J., Buchanan, J., Preissl, S., Wang, A., Wu, W., Haddad, G. G., Chaim, I. A., et al. (2019) · Cell Stem Cell · doi:10.1016/j.stem.2019.08.002 · Cited by 974 · see citing works
The genetic architecture of the human cerebral cortex
Grasby, K. L., Jahanshad, N., Painter, J. N., Colodro-Conde, L., Bralten, J., Hibar, D. P., Lind, P. A., Pizzagalli, F., Ching, C. R. K., McMahon, M. A. B., et al. (2020) · Science · doi:10.1126/science.aay6690 · Cited by 876 · see citing works
Self-citationIntegrative functional genomic analysis of human brain development and neuropsychiatric risks
Li, M., Santpere, G., Imamura Kawasawa, Y., Evgrafov, O. V., Gulden, F. O., Pochareddy, S., Sunkin, S. M., Li, Z., Shin, Y., Zhu, Y., et al. (2018) · Science · doi:10.1126/science.aat7615 · Cited by 810 · see citing works
Self-citationBrain cell type–specific enhancer–promoter interactome maps and disease <b>-</b> risk association
Nott, A., Holtman, I. R., Coufal, N. G., Schlachetzki, J. C. M., Yu, M., Hu, R., Han, C. Z., Pena, M., Xiao, J., Wu, Y., et al. (2019) · Science · doi:10.1126/science.aay0793 · Cited by 823 · see citing works
Single-nucleus chromatin accessibility and transcriptomic characterization of Alzheimer’s disease
Morabito, S., Miyoshi, E., Michael, N., Shahin, S., Martini, A. C., Head, E., Silva, J., Leavy, K., Perez-Rosendahl, M., & Swarup, V. (2021) · Nature Genetics · doi:10.1038/s41588-021-00894-z · Cited by 643 · see citing works
Comparative genetic architectures of schizophrenia in East Asian and European populations
Schizophrenia Working Group of the Psychiatric Genomics Consortium, Lam, M., Indonesia Schizophrenia Consortium, Genetic REsearch on schizophreniA neTwork-China and the Netherlands (GREAT-CN), Chen, C.-Y., Li, Z., Martin, A. R., Bryois, J., Ma, X., Gaspar, H., et al. (2019) · Nature Genetics · doi:10.1038/s41588-019-0512-x · Cited by 655 · see citing works
Self-citationGenetic identification of brain cell types underlying schizophrenia
Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium, Skene, N. G., Bryois, J., Bakken, T. E., Breen, G., Crowley, J. J., Gaspar, H. A., Giusti-Rodriguez, P., Hodge, R. D., Miller, J. A., et al. (2018) · Nature Genetics · doi:10.1038/s41588-018-0129-5 · Cited by 651 · see citing works
Self-citationWootton, R. E., Richmond, R. C., Stuijfzand, B. G., Lawn, R. B., Sallis, H. M., Taylor, G. M. J., Hemani, G., Jones, H. J., Zammit, S., Davey Smith, G., et al. (2020) · Psychological Medicine · doi:10.1017/s0033291719002678 · Cited by 587 · see citing works
A Single-Cell Transcriptomic Atlas of Human Neocortical Development during Mid-gestation
Polioudakis, D., de la Torre-Ubieta, L., Langerman, J., Elkins, A. G., Shi, X., Stein, J. L., Vuong, C. K., Nichterwitz, S., Gevorgian, M., Opland, C. K., et al. (2019) · Neuron · doi:10.1016/j.neuron.2019.06.011 · Cited by 513 · see citing works
Self-citationAdvancing human genetics research and drug discovery through exome sequencing of the UK Biobank
Szustakowski, J. D., Balasubramanian, S., Kvikstad, E., Khalid, S., Bronson, P. G., Sasson, A., Wong, E., Liu, D., Wade Davis, J., Haefliger, C., et al. (2021) · Nature Genetics · doi:10.1038/s41588-021-00885-0 · Cited by 401 · see citing works
Large-scale GWAS reveals insights into the genetic architecture of same-sex sexual behavior
Ganna, A., Verweij, K. J. H., Nivard, M. G., Maier, R., Wedow, R., Busch, A. S., Abdellaoui, A., Guo, S., Sathirapongsasuti, J. F., 23andMe Research Team, et al. (2019) · Science · doi:10.1126/science.aat7693 · Cited by 406 · see citing works
Common genetic variants contribute to risk of rare severe neurodevelopmental disorders
Niemi, M. E. K., Martin, H. C., Rice, D. L., Gallone, G., Gordon, S., Kelemen, M., McAloney, K., McRae, J., Radford, E. J., Yu, S., et al. (2018) · Nature · doi:10.1038/s41586-018-0566-4 · Cited by 340 · see citing works
Self-citationComparing Within- and Between-Family Polygenic Score Prediction
Selzam, S., Ritchie, S. J., Pingault, J.-B., Reynolds, C. A., O’Reilly, P. F., & Plomin, R. (2019) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2019.06.006 · Cited by 289 · see citing works
Self-citationZhao, B., Luo, T., Li, T., Li, Y., Zhang, J., Shan, Y., Wang, X., Yang, L., Zhou, F., Zhu, Z., et al. (2019) · Nature Genetics · doi:10.1038/s41588-019-0516-6 · Cited by 295 · see citing works
Single-cell and spatial transcriptomics: deciphering brain complexity in health and disease
Piwecka, M., Rajewsky, N., & Rybak-Wolf, A. (2023) · Nature Reviews Neurology · doi:10.1038/s41582-023-00809-y · Cited by 320 · see citing works
Sey, N. Y. A., Hu, B., Mah, W., Fauni, H., McAfee, J. C., Rajarajan, P., Brennand, K. J., Akbarian, S., & Won, H. (2020) · Nature Neuroscience · doi:10.1038/s41593-020-0603-0 · Cited by 297 · see citing works
Self-citationDeterminants of Base Editing Outcomes from Target Library Analysis and Machine Learning
Arbab, M., Shen, M. W., Mok, B., Wilson, C., Matuszek, Ż., Cassa, C. A., & Liu, D. R. (2020) · Cell · doi:10.1016/j.cell.2020.05.037 · Cited by 294 · see citing works
Mullins, N., Bigdeli, T. B., Børglum, A. D., Coleman, J. R. I., Demontis, D., Mehta, D., Power, R. A., Ripke, S., Stahl, E. A., Starnawska, A., et al. (2019) · American Journal of Psychiatry · doi:10.1176/appi.ajp.2019.18080957 · Cited by 270 · see citing works
Self-citationSingh, 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 · see citing works
Self-citationChromatin accessibility dynamics in a model of human forebrain development
Trevino, A. E., Sinnott-Armstrong, N., Andersen, J., Yoon, S.-J., Huber, N., Pritchard, J. K., Chang, H. Y., Greenleaf, W. J., & Pașca, S. P. (2020) · Science · doi:10.1126/science.aay1645 · Cited by 251 · see citing works
Gong, W., Guo, P., Li, Y., Liu, L., Yan, R., Liu, S., Wang, S., Xue, F., Zhou, X., & Yuan, Z. (2023) · JAMA Psychiatry · doi:10.1001/jamapsychiatry.2022.4974 · Cited by 225 · see citing works
Assembling human brain organoids
Paşca, S. P. (2019) · Science · doi:10.1126/science.aau5729 · Cited by 208 · see citing works
Neuron-specific signatures in the chromosomal connectome associated with schizophrenia risk
Rajarajan, P., Borrman, T., Liao, W., Schrode, N., Flaherty, E., Casiño, C., Powell, S., Yashaswini, C., LaMarca, E. A., Kassim, B., et al. (2018) · Science · doi:10.1126/science.aat4311 · Cited by 219 · see citing works
Self-citationTran, M. N., Maynard, K. R., Spangler, A., Huuki, L. A., Montgomery, K. D., Sadashivaiah, V., Tippani, M., Barry, B. K., Hancock, D. B., Hicks, S. C., et al. (2021) · Neuron · doi:10.1016/j.neuron.2021.09.001 · Cited by 219 · see citing works
Xu, R., Brawner, A. T., Li, S., Liu, J.-J., Kim, H., Xue, H., Pang, Z. P., Kim, W.-Y., Hart, R. P., Liu, Y., et al. (2019) · Cell Stem Cell · doi:10.1016/j.stem.2019.04.014 · Cited by 193 · see citing works
Evaluation of chromatin accessibility in prefrontal cortex of individuals with schizophrenia
Bryois, J., Garrett, M. E., Song, L., Safi, A., Giusti-Rodriguez, P., Johnson, G. D., Shieh, A. W., Buil, A., Fullard, J. F., Roussos, P., et al. (2018) · Nature Communications · doi:10.1038/s41467-018-05379-y · Cited by 167 · see citing works
Self-citationPerry, B. I., Upthegrove, R., Kappelmann, N., Jones, P. B., Burgess, S., & Khandaker, G. M. (2021) · Brain, Behavior, and Immunity · doi:10.1016/j.bbi.2021.07.009 · Cited by 187 · see citing works
Neuronal defects in a human cellular model of 22q11.2 deletion syndrome
Khan, T. A., Revah, O., Gordon, A., Yoon, S.-J., Krawisz, A. K., Goold, C., Sun, Y., Kim, C. H., Tian, Y., Li, M.-Y., et al. (2020) · Nature Medicine · doi:10.1038/s41591-020-1043-9 · Cited by 186 · see citing works
Self-citationInternational 22q11.2 Brain and Behavior Consortium, Davies, R. W., Fiksinski, A. M., Breetvelt, E. J., Williams, N. M., Hooper, S. R., Monfeuga, T., Bassett, A. S., Owen, M. J., Gur, R. E., et al. (2020) · Nature Medicine · doi:10.1038/s41591-020-1103-1 · Cited by 139 · see citing works
Self-citationHannon, E., Dempster, E. L., Mansell, G., Burrage, J., Bass, N., Bohlken, M. M., Corvin, A., Curtis, C. J., Dempster, D., Di Forti, M., et al. (2021) · eLife · doi:10.7554/elife.58430 · Cited by 132 · see citing works
Self-citationGROUP Investigators, Rees, E., Han, J., Morgan, J., Carrera, N., Escott-Price, V., Pocklington, A. J., Duffield, M., Hall, L. S., Legge, S. E., et al. (2020) · Nature Neuroscience · doi:10.1038/s41593-019-0565-2 · Cited by 129 · see citing works
Self-citationDevelopmental Dysfunction of VIP Interneurons Impairs Cortical Circuits
Batista-Brito, R., Vinck, M., Ferguson, K. A., Chang, J. T., Laubender, D., Lur, G., Mossner, J. M., Hernandez, V. G., Ramakrishnan, C., Deisseroth, K., et al. (2017) · Neuron · doi:10.1016/j.neuron.2017.07.034 · Cited by 135 · see citing works
Genome-Wide Association Study of Suicide Death and Polygenic Prediction of Clinical Antecedents
Docherty, A. R., Shabalin, A. A., DiBlasi, E., Monson, E., Mullins, N., Adkins, D. E., Bacanu, S.-A., Bakian, A. V., Crowell, S., Chen, D., et al. (2020) · American Journal of Psychiatry · doi:10.1176/appi.ajp.2020.19101025 · Cited by 124 · see citing works
Self-citationBrain-derived neurotrophic factor and schizophrenia
Di Carlo, P., Punzi, G., & Ursini, G. (2019) · Psychiatric Genetics · doi:10.1097/ypg.0000000000000237 · Cited by 110 · see citing works
Neuronal and glial 3D chromatin architecture informs the cellular etiology of brain disorders
Hu, B., Won, H., Mah, W., Park, R. B., Kassim, B., Spiess, K., Kozlenkov, A., Crowley, C. A., Pochareddy, S., The PsychENCODE Consortium, et al. (2021) · Nature Communications · doi:10.1038/s41467-021-24243-0 · Cited by 103 · see citing works
Self-citationDisrupted sleep and circadian rhythms in schizophrenia and their interaction with dopamine signaling
Ashton, A., & Jagannath, A. (2020) · Frontiers in Neuroscience · doi:10.3389/fnins.2020.00636 · Cited by 106 · see citing works
Zhu, T., Liu, J., Beck, S., Pan, S., Capper, D., Lechner, M., Thirlwell, C., Breeze, C. E., & Teschendorff, A. E. (2022) · Nature Methods · doi:10.1038/s41592-022-01412-7 · Cited by 103 · see citing works
Social and non-social autism symptoms and trait domains are genetically dissociable
Warrier, V., Toro, R., Won, H., Leblond, C. S., Cliquet, F., Delorme, R., De Witte, W., Bralten, J., Chakrabarti, B., Børglum, A. D., et al. (2019) · Communications Biology · doi:10.1038/s42003-019-0558-4 · Cited by 94 · see citing works
Self-citationAnderson, A. G., Rogers, B. B., Loupe, J. M., Rodriguez-Nunez, I., Roberts, S. C., White, L. M., Brazell, J. N., Bunney, W. E., Bunney, B. G., Watson, S. J., et al. (2023) · Cell Genomics · doi:10.1016/j.xgen.2023.100263 · Cited by 82 · see citing works
Genome-wide association study meta-analysis of suicide death and suicidal behavior
Li, Q. S., Shabalin, A. A., DiBlasi, E., Gopal, S., Canuso, C. M., FinnGen, I. S. G. C., Palotie, A., Drevets, W. C., Docherty, A. R., & Coon, H. (2023) · Molecular Psychiatry · doi:10.1038/s41380-022-01828-9 · Cited by 68 · see citing works
Genome-wide association identifies the first risk loci for psychosis in Alzheimer disease
DeMichele-Sweet, M. A. A., Klei, L., Creese, B., Harwood, J. C., Weamer, E. A., McClain, L., Sims, R., Hernandez, I., Moreno-Grau, S., Tárraga, L., et al. (2021) · Molecular Psychiatry · doi:10.1038/s41380-021-01152-8 · Cited by 64 · see citing works
Self-citationOhi, K., Otowa, T., Shimada, M., Sasaki, T., & Tanii, H. (2020) · Psychological Medicine · doi:10.1017/s003329171900059x · Cited by 61 · see citing works
Jansen, A. G., Dieleman, G. C., Jansen, P. R., Verhulst, F. C., Posthuma, D., & Polderman, T. J. C. (2020) · Behavior Genetics · doi:10.1007/s10519-019-09965-8 · Cited by 58 · see citing works
The 22q11.2 region regulates presynaptic gene-products linked to schizophrenia
Nehme, R., Pietiläinen, O., Artomov, M., Tegtmeyer, M., Valakh, V., Lehtonen, L., Bell, C., Singh, T., Trehan, A., Sherwood, J., et al. (2022) · Nature Communications · doi:10.1038/s41467-022-31436-8 · Cited by 58 · see citing works
Self-citationShaw, A. D., Knight, L., Freeman, T. C. A., Williams, G. M., Moran, R. J., Friston, K. J., Walters, J. T. R., & Singh, K. D. (2019) · Schizophrenia Bulletin · doi:10.1093/schbul/sbz066 · Cited by 54 · see citing works
Kim, S. S., Truong, B., Jagadeesh, K., Dey, K. K., Shen, A. Z., Raychaudhuri, S., Kellis, M., & Price, A. L. (2024) · Nature Communications · doi:10.1038/s41467-024-44742-0 · Cited by 56 · see citing works
Mah, W., & Won, H. (2020) · Schizophrenia Research · doi:10.1016/j.schres.2019.03.007 · Cited by 38 · see citing works
Self-citationProgram, T. V. M. V., Bone, W. P., Siewert, K. M., Jha, A., Klarin, D., Damrauer, S. M., Chang, K.-M., Tsao, P. S., Assimes, T. L., Ritchie, M. D., et al. (2021) · Alzheimer's Research & Therapy · doi:10.1186/s13195-021-00773-z · Cited by 41 · see citing works
Genetic liability to schizophrenia is associated with exposure to traumatic events in childhood
Sallis, H. M., Croft, J., Havdahl, A., Jones, H. J., Dunn, E. C., Davey Smith, G., Zammit, S., & Munafò, M. R. (2021) · Psychological Medicine · doi:10.1017/s0033291720000537 · Cited by 38 · see citing works
Epigenome-wide association study of alcohol use disorder in five brain regions
Zillich, L., Frank, J., Streit, F., Friske, M. M., Foo, J. C., Sirignano, L., Heilmann-Heimbach, S., Dukal, H., Degenhardt, F., Hoffmann, P., et al. (2022) · Neuropsychopharmacology · doi:10.1038/s41386-021-01228-7 · Cited by 36 · see citing works
Applying Deep Neural Network Analysis to High-Content Image-Based Assays
Yang, S. J., Lipnick, S. L., Makhortova, N. R., Venugopalan, S., Fan, M., Armstrong, Z., Schlaeger, T. M., Deng, L., Chung, W. K., O’Callaghan, L., et al. (2019) · SLAS DISCOVERY · doi:10.1177/2472555219857715 · Cited by 36 · see citing works
Single cell epigenomic atlas of the developing human brain and organoids
Ziffra, R. S., Kim, C. N., Wilfert, A., Turner, T. N., Haeussler, M., Casella, A. M., Przytycki, P. F., Kreimer, A., Pollard, K. S., Ament, S. A., et al. (2019) · doi:10.1101/2019.12.30.891549 · Cited by 33 · see citing works
Koller, D., Wendt, F. R., Pathak, G. A., De Lillo, A., De Angelis, F., Cabrera-Mendoza, B., Tucci, S., & Polimanti, R. (2022) · BMC Biology · doi:10.1186/s12915-022-01449-2 · Cited by 27 · see citing works
“In our evolution-focused SNP-h2 enrichment analysis, we detected an overabundance of genic and LoF intolerant loci in both EAS and EUR, suggesting that functionally important regions of the genome contribute to SNP-h2 to a different extent compared to the other annotations tested [10, 33, 40, 44].”
BackgroundResultMontagnese, M., Knolle, F., Haarsma, J., Griffin, J. D., Richards, A., Vertes, P. E., Kiddle, B., Fletcher, P. C., Jones, P. B., Owen, M. J., et al. (2020) · Schizophrenia Research · doi:10.1016/j.schres.2020.04.022 · Cited by 26 · see citing works
Self-citationDannemann, M., Milaneschi, Y., Yermakovich, D., Stiglbauer, V., Kariis, H. M., Krebs, K., Friese, M. A., Otte, C., Estonian Biobank Research Team, Esko, T., et al. (2022) · Translational Psychiatry · doi:10.1038/s41398-022-02196-2 · Cited by 23 · see citing works
“A more recent study subsequently demonstrated that when accounting for purifying selection there is no evidence for a significant Neandertal contribution [44].”
BackgroundA selection pressure landscape for 870 human polygenic traits
Song, W., Shi, Y., Wang, W., Pan, W., Qian, W., Yu, S., Zhao, M., & Lin, G. N. (2021) · Nature Human Behaviour · doi:10.1038/s41562-021-01231-4 · Cited by 25 · see citing works
Gregory, M. D., Eisenberg, D. P., Hamborg, M., Kippenhan, J. S., Kohn, P., Kolachana, B., Dickinson, D., & Berman, K. F. (2021) · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32872 · Cited by 24 · see citing works
H‐MAGMA, inheriting a shaky statistical foundation, yields excess false positives
Yurko, R., Roeder, K., Devlin, B., & G'Sell, M. (2021) · Annals of Human Genetics · doi:10.1111/ahg.12412 · Cited by 23 · see citing works
Transcriptome-wide association study reveals two genes that influence mismatch negativity
Bhat, A., Irizar, H., Thygesen, J. H., Kuchenbaecker, K., Pain, O., Adams, R. A., Zartaloudi, E., Harju-Seppänen, J., Austin-Zimmerman, I., Wang, B., et al. (2021) · Cell Reports · doi:10.1016/j.celrep.2021.108868 · Cited by 17 · see citing works
Liu, Y., Ren, H., Zhang, Y., Deng, W., Ma, X., Zhao, L., Li, X., Sham, P., Wang, Q., & Li, T. (2024) · Psychological Medicine · doi:10.1017/s003329172400014x · Cited by 15 · see citing works
Yao, Y., Yang, J., Xie, Y., Liao, H., Yang, B., Xu, Q., & Rao, S. (2020) · Schizophrenia Bulletin · doi:10.1093/schbul/sbz048 · Cited by 10 · see citing works
Enrichment of a subset of Neanderthal polymorphisms in autistic probands and siblings
Pauly, R., Johnson, L., Feltus, F. A., & Casanova, E. L. (2024) · Molecular Psychiatry · doi:10.1038/s41380-024-02593-7 · Cited by 7 · see citing works
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 · see citing works
Self-citation
- Authors
- GERAD1 Consortium, Pardiñas, A. F., CRESTAR Consortium, Holmans, P., Pocklington, A. J., Escott-Price, V., Ripke, S., Carrera, N., Legge, S. E., Bishop, S., Cameron, D., Hamshere, M. L., Han, J., Hubbard, L., Lynham, A., Mantripragada, K., Rees, E., MacCabe, J. H., McCarroll, S. A., Baune, B. T., Breen, G., Byrne, E. M., Dannlowski, U., Eley, T. C., Hayward, C., Martin, N. G., McIntosh, A. M., Plomin, R., Porteous, D. J., Wray, N. R., Caballero, A., Geschwind, D. H., Huckins, L. M., Ruderfer, D. M., Santiago, E., Sklar, P., Stahl, E. A., Won, H., Agerbo, E., Als, T. D., Andreassen, O. A., Bækvad-Hansen, M., Mortensen, P. B., Pedersen, C. B., Børglum, A. D., Bybjerg-Grauholm, J., Djurovic, S., Durmishi, N., Pedersen, M. G., Golimbet, V., Grove, J., Hougaard, D. M., Mattheisen, M., Molden, E., Mors, O., Nordentoft, M., Pejovic-Milovancevic, M., Sigurdsson, E., Silagadze, T., Hansen, C. S., Stefansson, K., Stefansson, H., Steinberg, S., Tosato, S., Werge, T., Collier, D. A., Rujescu, D., Kirov, G., Owen, M. J., O’Donovan, M. C., & Walters, J. T. R.
- Affiliations
- Cardiff University (GB)
- Massachusetts General Hospital (US)
- King's College London (GB)
- Broad Institute (US)
- The University of Adelaide (AU)
- The University of Queensland (AU)
- University of Münster (DE)
- Institute of Genetics and Cancer (GB)
- University of Edinburgh (GB)
- Universidade de Vigo (ES)
- University of California, Los Angeles (US)
- Icahn School of Medicine at Mount Sinai (US)
- Universidad de Oviedo (ES)
- Aarhus University (DK)
- Oslo University Hospital (NO)
- PHI University Psychiatric Clinic - Skopje (MK)
- Statens Serum Institut (DK)
- Diakonhjemmet Hospital (NO)
- Aarhus University Hospital (DK)
- University of Copenhagen (DK)
- University of Belgrade (RS)
- Tbilisi State Medical University (GE)
- deCODE Genetics (Iceland) (IS)
- University of Verona (IT)
- Martin Luther University Halle-Wittenberg (DE)
- Corresponding author
- Owen, Michael J.
- O’Donovan, Michael C.
- Walters, James T. R.
- ORCID
- Pardiñas, Antonio F.
- Holmans, Peter
- Pocklington, Andrew J.
- Ripke, Stephan
- Carrera, Noa
- Legge, Sophie E.
- Bishop, Sophie
- Cameron, Darren
- Hamshere, Marian L.
- Han, Jun
- Hubbard, Leon
- Lynham, Amy
- Mantripragada, Kiran
- Rees, Elliott
- MacCabe, James H.
- McCarroll, Steven A.
- Baune, Bernhard T.
- Breen, Gerome
- Byrne, Enda M.
- Dannlowski, Udo
- Eley, Thalia C.
- Hayward, Caroline
- Martin, Nicholas G.
- McIntosh, Andrew M.
- Plomin, Robert
- Porteous, David J.
- Wray, Naomi R.
- Caballero, Armando
- Geschwind, Daniel H.
- Huckins, Laura M.
- Ruderfer, Douglas M.
- Santiago, Enrique
- Sklar, Pamela
- Stahl, Eli A.
- Won, Hyejung
- Agerbo, Esben
- Als, Thomas D.
- Andreassen, Ole A.
- Mortensen, Preben Bo
- Pedersen, Carsten Bøcker
- Børglum, Anders D.
- Bybjerg-Grauholm, Jonas
- Djurovic, Srdjan
- Grove, Jakob
- Hougaard, David M.
- Mattheisen, Manuel
- Molden, Espen
- Mors, Ole
- Nordentoft, Merete
- Pejovic-Milovancevic, Milica
- Sigurdsson, Engilbert
- Silagadze, Teimuraz
- Hansen, Christine Søholm
- Steinberg, Stacy
- Tosato, Sarah
- Werge, Thomas
- Collier, David A.
- Rujescu, Dan
- Kirov, George
- Owen, Michael J.
- O’Donovan, Michael C.
- Walters, James T. R.
- Venue
- Nature Genetics
- Published
- 2018-02-26
- Volume
- 50
- Issue
- 3
- Pages
- 381-389
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- PMC
- PMC5918692
- OpenAlex
- W2777388159
- Cited by
- 1,552
- References
- 170
- Citations by year
- 2026: 75 · 2025: 109 · 2024: 148 · 2023: 162 · 2022: 233 · 2021: 288 · 2020: 233 · 2019: 207 · 2018: 74 · 2017: 19
- FWCI
- 31.27
- Type
- journal article
- Language
- en
- Update notices
- correction (2019-06-03)
- Open access
- green
- doi.org
- Licence
- cc-by-nc-nd
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- bioRxiv (Cold Spring Harbor Laboratory) (acceptedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- Research at the University of Copenhagen (University of Copenhagen) (publishedVersion, other-oa)
- ORCA Online Research @Cardiff (Cardiff University) (acceptedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Consultation of the Doctoral Thesis Database (TESEO) (Ministerio de Educación, Cultura y Deporte) (submittedVersion, cc-by-nc-nd)
- Adelaide Research & Scholarship (AR&S) (University of Adelaide) (submittedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- ORCA Online Research @Cardiff (Cardiff University) (submittedVersion)
- Research Portal (King's College London) (submittedVersion, other-oa)
- DZNE Pub (submittedVersion)
- Edinburgh Research Explorer (University of Edinburgh) (submittedVersion, other-oa)
- Hirsla (Landspítali University Hospital) (submittedVersion)
- Funders
- Aarhus Universitet
- NHS Blood and Transplant
- Wellcome Trust (083270, G0000934, 10436/Z/14/Z, 088262, G0901245, UK10K, 06854/Z/02/Z, 088262/Z/09/Z, MR/L010305/1, WT091310, 076113, 076113/C/04/Z)
- Scottish Government (CZD/16/6)
- QIMR Berghofer Medical Research Institute
- Alzheimer's Society
- National Institute for Health and Care Research (RP-PG-0310-1002)
- Scottish Funding Council (HR03006)
- King's College London
- European Commission (QLG2-CT-2002-01254, 279227, 201413, 01254, 241909)
- Cardiff University (MR/L010305/1, G0800509, MR/L011794/1)
- Deutsche Forschungsgemeinschaft (Dan3/012/17, FOR 2107/ DA1151/5-1, TRR‐58, DA1151/5-1, FOR 2107, SFB TRR 58)
- Bundesministerium für Bildung und Forschung
- Lundbeckfonden (R155-2014-1724, R102‐A9118, R248‐2017‐2003)
- Alfried Krupp von Bohlen und Halbach-Stiftung
- Xunta de Galicia (ED431C, ED431C 2016-037)
- H. Lundbeck A/S
- National Institutes of Health (G0901245, G0000934, 389875, DA12854)
- Chief Scientist Office, Scottish Government Health and Social Care Directorate (CZD/16/6)
- Medical Research Council (MR/L023784/2, MR/L011794/1, G0901245, MR/P005748/1, MR/K026992/1, G0500079, G0000934, MR/L010305/1, 1078901, MR/L011794, MC_UU_00007/10, G0800509)
- Australian Research Council (FT0991360, FT0991022)
- National Health and Medical Research Council (496739, 613674, 613602, 389927, 1078901, 389891, 552485, 619667, 552498, 442981, 613608, 389938, 241944, 339462, 442915, 389875, 496675, 389892, G0000934)
- European Regional Development Fund (ED431C2016-037, ED431C, CGL2016)
- Strategic Research Council
- Agencia Estatal de Investigación (CGL2016-75904-C2, CGL2016-75904-C2-1-P)
- National Institute on Alcohol Abuse and Alcoholism (R01AA013321, R01AA013326, R01AA013320, R01AA014041, R01AA007535)
- National Institute of Mental Health (R01MH110927, R00MH113823, R01MH066206, K99MH113823)
- National Institute on Drug Abuse (R56DA012854, K08DA019951, R01DA012854)
- National Human Genome Research Institute
- National Institute of Allergy and Infectious Diseases
- National Institute of Diabetes and Digestive and Kidney Diseases
- National Institute of Child Health and Human Development (HD059215, 389875)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01HD059215, R01HD044454)
- FP7 Ideas: European Research Council (294838)
- 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, genetic architecture, background selection, positive selection, fine mapping, brain gene expression, chromosome conformation, causal genes
- MeSH terms
- Alleles, Gene Frequency, Genes, Lethal, Humans, Schizophrenia, Selection, Genetic, Case-Control Studies, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Inheritance Patterns, Genome-Wide Association Study, Genetic Loci
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