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De novo mutations in schizophrenia implicate synaptic networks
Open accessAbstract
Inherited alleles account for most of the genetic risk for schizophrenia. However, new (de novo) mutations, in the form of large chromosomal copy number changes, occur in a small fraction of cases and disproportionally disrupt genes encoding postsynaptic proteins. Here we show that small de novo mutations, affecting one or a few nucleotides, are overrepresented among glutamatergic postsynaptic proteins comprising activity-regulated cytoskeleton-associated protein (ARC) and N-methyl-d-aspartate receptor (NMDAR) complexes. Mutations are additionally enriched in proteins that interact with these complexes to modulate synaptic strength, namely proteins regulating actin filament dynamics and those whose messenger RNAs are targets of fragile X mental retardation protein (FMRP). Genes affected by mutations in schizophrenia overlap those mutated in autism and intellectual disability, as do mutation-enriched synaptic pathways. Aligning our findings with a parallel case-control study, we demonstrate reproducible insights into aetiological mechanisms for schizophrenia and reveal pathophysiology shared with other neurodevelopmental disorders.
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In the citing paper
“While most children with SCN2A variants fit into one of these three categories, there are some exceptions, including epileptic encephalopathy with choreoathetoid movements [26,27], benign infantile seizures with late-onset episodic ataxia [28–31], childhood-onset epileptic encephalopathy [32], and schizophrenia [33,34].”
From Progress in Understanding and Treating SCN2A-Mediated Disorders (2018) · cites this paper as [33]
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In the citing paper
“The human NDR2 gene (STK38l) has been identified as a susceptibility gene for neurodevelopmental disorders, intellectual disability (Madencioglu et al. 2021; Firth et al. 2009), and autism spectrum disorder (Fromer et al. 2014).”
From The Serine/Threonine Kinase NDR2 Regulates Integrin Signaling, Synapse Formation, and Synaptic Plasticity in the Hippocampus (2025) · cites this paper as Fromer et al. 2014
Experimental — accuracy not yet measuredIn the citing paper
“We tested for and found that genes in which rare variants increase risk of ASD and DD32,33 are also enriched for schizophrenia common variant associations.”
From Mapping genomic loci implicates genes and synaptic biology in schizophrenia (2022) · cites this paper as [32]
In the citing paper
“We controlled for a set of 10,360 genes with detectable expression in brain tissue measured as Fragments Per Kilobase of transcript per Million mapped reads (FPKM)32 to detect synaptic signals above signals simply reflecting the property of brain expression.”
From Mapping genomic loci implicates genes and synaptic biology in schizophrenia (2022) · cites this paper as [32]
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 [80]
In the citing paper
“Protein-truncating variants (PTVs) are among the most interpretable associations as they suggest that the effect on disease most commonly tracks with decreasing expression of the gene18.”
From Rare coding variants in ten genes confer substantial risk for schizophrenia (2022) · cites this paper as [18]
In the citing paper
“This elevation of protein-compromising URVs was several times larger than an analogously elevated rate for de novo mutations”
From Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia (2016) · cites this paper as [12]
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 [12]
In the citing paper
“we identified an ultra-rare splice donor variant in TAF1312, an ultra-rare nonsense variant in SETD1A16,17, and a single ultra-rare nonsense variant in NRXN1, a gene in which exonic deletions associate with schizophrenia18.”
From Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia (2016) · cites this paper as [12]
In the citing paper
“These data yielded an elevation of about 0.03 such DNMs per exome, based on the difference between rates of 0.185 (95% CI 0.151-0.219) for individuals with schizophrenia12 and 0.156 (95% CI 0.139-0.174) for unaffected individuals13.”
From Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia (2016) · cites this paper as [12]
In the citing paper
“Estimated 3rd and 5th principal components corresponded to previously observed Finnish and Northern-Southern Sweden clines12 (Supplementary Fig. 12d)”
From Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia (2016) · cites this paper as [12]
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 [7]
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Cites
Gene Ontology: tool for the unification of biology
Ashburner, M., Ball, C. A., Blake, J. A., Botstein, D., Butler, H., Cherry, J. M., Davis, A. P., Dolinski, K., Dwight, S. S., Eppig, J. T., et al. (2000) · Nature Genetics · doi:10.1038/75556 · Cited by 43,206
Sporadic 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
Rate of de novo mutations and the importance of father’s age to disease risk
Kong, A., Frigge, M. L., Masson, G., Besenbacher, S., Sulem, P., Magnusson, G., Gudjonsson, S. A., Sigurdsson, A., Jonasdottir, A., Jonasdottir, A., et al. (2012) · Nature · doi:10.1038/nature11396 · Cited by 2,134
De 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
Patterns and rates of exonic de novo mutations in autism spectrum disorders
Neale, B. M., Kou, Y., Liu, L., Ma’ayan, A., Samocha, K. E., Sabo, A., Lin, C.-F., Stevens, C., Wang, L.-S., Makarov, V., et al. (2012) · Nature · doi:10.1038/nature11011 · Cited by 1,734
Self-citationDiagnostic exome sequencing in persons with severe intellectual disability
de Ligt, J., Willemsen, M. H., van Bon, B. W. M., Kleefstra, T., Yntema, H. G., Kroes, T., Vulto-van Silfhout, A. T., Koolen, D. A., de Vries, P., Gilissen, C., et al. (2012) · New England Journal of Medicine · doi:10.1056/nejmoa1206524 · Cited by 1,546
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
Schizophrenia: Caused by a fault in programmed synaptic elimination during adolescence?
Feinberg, I. (1982) · Journal of Psychiatric Research · doi:10.1016/0022-3956(82)90038-3 · Cited by 1,395
A 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
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Animal models of gene–environment interaction in schizophrenia: A dimensional perspective
Ayhan, Y., McFarland, R., & Pletnikov, M. V. (2015) · Progress in Neurobiology · doi:10.1016/j.pneurobio.2015.10.002 · Cited by 82
Suhl, J. A., Chopra, P., Anderson, B. R., Bassell, G. J., & Warren, S. T. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddu272 · Cited by 81
Pak, C., Dankó, T., Mirabella, V. R., Wang, J., Liu, Y., Vangipuram, M., Grieder, S. D., Zhang, X., Ward, T., Huang, Y. A., et al. (2021) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2025598118 · Cited by 84
Park, C. Y., Zhou, J., Wong, A. K., Chen, K., Theesfeld, C. L., Darnell, R. B., & Troyanskaya, O. G. (2021) · Nature Genetics · doi:10.1038/s41588-020-00761-3 · Cited by 80
Modeling synaptogenesis in schizophrenia and autism using human iPSC derived neurons
Habela, C. W., Song, H., & Ming, G. (2015) · Molecular and Cellular Neuroscience · doi:10.1016/j.mcn.2015.12.002 · Cited by 80
Iyer, J. S., Singh, M. D., Jensen, M., Patel, P. T., Pizzo, L., Huber, E., Koerselman, H., Weiner, A. T., Lepanto, P., Vadodaria, K., et al. (2018) · Nature Communications · doi:10.1038/s41467-018-04882-6 · Cited by 81
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Radtke, F., Chapman, G., Hall, J., & Syed, Y. A. (2017) · BioMed Research International · doi:10.1155/2017/5071786 · Cited by 80
Greenwood, T. A., Lazzeroni, L. C., Calkins, M. E., Freedman, R., Green, M. F., Gur, R. E., Gur, R. C., Light, G. A., Nuechterlein, K. H., D, A. O. M., et al. (2015) · Schizophrenia Research · doi:10.1016/j.schres.2015.11.008 · Cited by 79
The Landscape of Circular RNA Expression in the Human Brain
Gokoolparsadh, A., Anwar, F., & Voineagu, I. (2019) · Biological Psychiatry · doi:10.1016/j.biopsych.2019.07.029 · Cited by 79
Genome-wide analysis of differential RNA editing in epilepsyPreprint
Srivastava, P. K., Bagnati, M., Delahaye‐Duriez, A., Ko, J., Rotival, M., Langley, S. R., Shkura, K., Mazzuferi, M., Danis, B., van Eyll, J. M., et al. (2017) · Genome Research · doi:10.1101/gr.210740.116 · Cited by 79
Sungur, A. Ö., Schwarting, R. K. W., & Wöhr, M. (2015) · Autism Research · doi:10.1002/aur.1564 · Cited by 78
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Arnsten, A. F. T., Datta, D., & Wang, M. (2020) · Molecular Psychiatry · doi:10.1038/s41380-020-00973-3 · Cited by 79
Liu, D., Meyer, D., Fennessy, B., Feng, C., Cheng, E., Johnson, J., Park, Y. J., Rieder, M.-K., Ascolillo, S., de Pins, A. M., et al. (2023) · Nature Genetics · doi:10.1038/s41588-023-01305-1 · Cited by 78
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Rubeis, S. D., & Buxbaum, J. D. (2015) · Current Neurology and Neuroscience Reports · doi:10.1007/s11910-015-0553-1 · Cited by 77
Rees, E., O’Donovan, M. C., & Owen, M. J. (2014) · Current Opinion in Behavioral Sciences · doi:10.1016/j.cobeha.2014.07.001 · Cited by 77
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Guan, F., Ni, T., Zhu, W., Williams, L. K., Cui, L., Li, M., Tubbs, J. D., Sham, P. C., & Gui, H. (2021) · Molecular Psychiatry · doi:10.1038/s41380-021-01201-2 · Cited by 79
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Han, C. Z., Li, R. Z., Hansen, E., Trescott, S., Fixsen, B. R., Nguyen, C. T., Mora, C. M., Spann, N. J., Bennett, H. R., Poirion, O., et al. (2023) · Immunity · doi:10.1016/j.immuni.2023.07.016 · Cited by 84
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Yu, L., Sawle, A., Wynn, J., Aspelund, G., Stolar, C. J. H., Arkovitz, M. S., Potoka, D. A., Azarow, K. S., Mychaliska, G. B., Shen, Y., et al. (2015) · Human Molecular Genetics · doi:10.1093/hmg/ddv196 · Cited by 77
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Łepeta, K., & Kaczmarek, L. (2015) · Schizophrenia Bulletin · doi:10.1093/schbul/sbv036 · Cited by 76
Alural, B., Genç, Ş., & Haggarty, S. J. (2016) · Progress in Neuro-Psychopharmacology and Biological Psychiatry · doi:10.1016/j.pnpbp.2016.03.010 · Cited by 76
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Aryal, S., Bonanno, K., Song, B. J., Mani, D. R., Keshishian, H., Carr, S. A., Sheng, M., & Dejanovic, B. (2023) · Cell Reports · doi:10.1016/j.celrep.2023.112497 · Cited by 77
Fullard, J. F., Giambartolomei, C., Hauberg, M. E., Xu, K., Voloudakis, G., Shao, Z., Bare, C., Dudley, J. T., Mattheisen, M., Robakis, N. K. R. K., et al. (2017) · Human Molecular Genetics · doi:10.1093/hmg/ddx103 · Cited by 75
Self-citationChen, S., Fragoza, R., Klei, L., Liu, Y., Wang, J., Roeder, K., Devlin, B., & Yu, H. (2018) · Nature Genetics · doi:10.1038/s41588-018-0130-z · Cited by 75
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Andrade, A., Hope, J. M., Allen, A., Yorgan, V. A., Lipscombe, D., & Pan, J. Q. (2016) · Scientific Reports · doi:10.1038/srep34233 · Cited by 74
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Chelini, G., Pantazopoulos, H., Durning, P. T., & Berretta, S. (2018) · European Psychiatry · doi:10.1016/j.eurpsy.2018.02.003 · Cited by 73
Obi-Nagata, K., Temma, Y., & Hayashi‐Takagi, A. (2019) · Proceedings of the Japan Academy Series B · doi:10.2183/pjab.95.014 · Cited by 72
Nakamura, T., & Takata, A. (2023) · Molecular Psychiatry · doi:10.1038/s41380-023-02005-2 · Cited by 72
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Zhang, Q., Gao, X., Li, C., Feliciano, C., Wang, D., Zhou, D., Yuan, M., Monteiro, P., Anand, M., Itohara, S., et al. (2016) · Journal of Neuroscience · doi:10.1523/jneurosci.2528-15.2016 · Cited by 74
Hall, L. S., Medway, C. W., Pain, O., Pardiñas, A. F., Rees, E., Escott‐Price, V., Pocklington, A. J., Bray, N. J., Holmans, P., Walters, J., et al. (2019) · Human Molecular Genetics · doi:10.1093/hmg/ddz253 · Cited by 72
Self-citationCappi, C., Brentani, H., Lima, L., Sanders, S. J., Zai, G., Diniz, B. J., Reis, V. N. S., Hounie, A. G., Conceição do Rosário, M., Mariani, D., et al. (2016) · Translational Psychiatry · doi:10.1038/tp.2016.30 · Cited by 71
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Pouget, J. G., Gonçalves, V. F., Spain, S. L., Finucane, H. K., Raychaudhuri, S., Kennedy, J. L., & Knight, J. (2016) · Schizophrenia Bulletin · doi:10.1093/schbul/sbw059 · Cited by 71
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Wang, W., Corominas, R., & Lin, G. N. (2019) · Frontiers in Genetics · doi:10.3389/fgene.2019.00258 · Cited by 70
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Tomoda, T., Sumitomo, A., Jaaro-Peled, H., & Sawa, A. (2016) · Neuroscience · doi:10.1016/j.neuroscience.2015.12.061 · Cited by 70
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Liu, S., Zhou, L., Yuan, H., Vieira, M., Sanz-Clemente, A., Badger, J. D., Lu, W., Traynelis, S. F., & Roche, K. W. (2017) · The Journal of Neuroscience · doi:10.1523/jneurosci.0827-16.2017 · Cited by 69
Neale, B. M., & Sklar, P. B. (2014) · Current Opinion in Neurobiology · doi:10.1016/j.conb.2014.12.001 · Cited by 69
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Lal, D., May, P., Samocha, K. E., Kosmicki, J. A., Robinson, E., Møller, R., Krause, R., Nüernberg, P., Weckhuysen, S., Jonghe, P. D., et al. (2020) · Genome Medicine · doi:10.1186/s13073-020-00725-6 · Cited by 69
Self-citationMereu, M., Contarini, G., Buonaguro, E. F., Latte, G., Managò, F., Iasevoli, F., de Bartolomeis, A., & Papaleo, F. (2017) · Neuropharmacology · doi:10.1016/j.neuropharm.2017.04.037 · Cited by 69
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Liu, Y., Chang, X., Hahn, C.-G., Gur, R. E., Abou‐Sleiman, P. M., & Hakonarson, H. H. (2018) · Translational Psychiatry · doi:10.1038/s41398-017-0030-5 · Cited by 69
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Katrancha, S. M., Wu, Y., Zhu, M., Eipper, B. A., Koleske, A. J., & Mains, R. E. (2017) · Human Molecular Genetics · doi:10.1093/hmg/ddx355 · Cited by 68
Wray, N. R., & Maier, R. (2014) · Current Epidemiology Reports · doi:10.1007/s40471-014-0023-3 · Cited by 67
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Volkmann, R. A., Fanger, C. M., Anderson, D. R., Sirivolu, V. R., Paschetto, K. A., Gordon, E., Virginio, C., Gleyzes, M., Buisson, B., Steidl, E., et al. (2016) · PLoS ONE · doi:10.1371/journal.pone.0148129 · Cited by 67
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Birnbaum, R., Jaffe, A. E., Chen, Q., Shin, J. H., BrainSeq Consortium, Schubert, C. R., O'Donnell, P., Quan, J., Wendland, J. R., Xi, H. S., et al. (2018) · Molecular Psychiatry · doi:10.1038/mp.2017.89 · Cited by 67
Chang, H., Xiao, X., & Li, M. (2017) · Molecular Psychiatry · doi:10.1038/mp.2017.19 · Cited by 66
Homberg, J. R., Kyzar, E. J., Scattoni, M. L., Norton, W., Pittman, J. T., Gaikwad, S., Nguyen, M., Poudel, M. K., Ullmann, J. F. P., Diamond, D. M., et al. (2016) · Brain Research Bulletin · doi:10.1016/j.brainresbull.2016.04.015 · Cited by 67
Profiling and Leveraging Relatedness in a Precision Medicine Cohort of 92,455 Exomes
Staples, J. C., Maxwell, E. K., Gosalia, N., Gonzaga-Jauregui, C. G., Snyder, C., Hawes, A. C., Penn, J., Ulloa, R. H., Bai, X., Lopez, A. E., et al. (2018) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2018.03.012 · Cited by 66
Alsabban, A. H., Morikawa, M., Tanaka, Y., Takei, Y., & Hirokawa, N. (2019) · The EMBO Journal · doi:10.15252/embj.2018101090 · Cited by 66
Dendritic spine actin cytoskeleton in autism spectrum disorder
Joensuu, M., Lanoue, V., & Hotulainen, P. (2018) · Progress in Neuro-Psychopharmacology and Biological Psychiatry · doi:10.1016/j.pnpbp.2017.08.023 · Cited by 65
The role of Extracellular Vesicles during CNS development
Sangani, N. B., Gomes, A. R., Curfs, L., & Reutelingsperger, C. P. M. (2021) · Progress in Neurobiology · doi:10.1016/j.pneurobio.2021.102124 · Cited by 68
Park, B., Kebets, V., Larivière, S., Hettwer, M. D., Paquola, C., van Rooij, D., Buitelaar, J. K., Franke, B., Hoogman, M., Schmaal, L., et al. (2022) · Communications Biology · doi:10.1038/s42003-022-03963-z · Cited by 65
An insight into sex-specific neurotoxicity and molecular mechanisms of DEHP: A critical review
Liu, Y., Guo, Z., Zhu, R., Gou, D., Jia, P., & Pei, D. (2022) · Environmental Pollution · doi:10.1016/j.envpol.2022.120673 · Cited by 65
Banerjee, A., Wang, H.-Y., Borgmann‐Winter, K. E., MacDonald, M. L., Kaprielian, H., Stucky, A., Kvasic, J., Egbujo, C. N., Ray, R., Talbot, K., et al. (2014) · Molecular Psychiatry · doi:10.1038/mp.2014.115 · Cited by 65
MacDonald, M. L., Ding, Y., Newman, J. T., Hemby, S. E., Penzes, P., Lewis, D. A., Yates, N. A., & Sweet, R. A. (2014) · Biological Psychiatry · doi:10.1016/j.biopsych.2014.09.006 · Cited by 65
Calibrating the Human Mutation Rate via Ancestral Recombination Density in Diploid Genomes
Lipson, M., Loh, P., Sankararaman, S., Patterson, N. J., Berger, B., & Reich, D. (2015) · PLoS Genetics · doi:10.1371/journal.pgen.1005550 · Cited by 65
Bradshaw, N. J., & Korth, C. (2018) · Molecular Psychiatry · doi:10.1038/s41380-018-0133-2 · Cited by 66
De novo POGZ mutations are associated with neurodevelopmental disorders and microcephalyPreprint
Ye, Y., Cho, M. T., Retterer, K., Alexander, N., Ben‐Omran, T., Al‐Mureikhi, M., Cristian, I., Wheeler, P. G., Crain, C., Zand, D. J., et al. (2015) · Molecular Case Studies · doi:10.1101/mcs.a000455 · Cited by 65
Cyfip1 Regulates Presynaptic Activity during Development
Hsiao, K., Harony-Nicolas, H., Buxbaum, J. D., Bozdagi-Gunal, O., & Benson, D. L. (2016) · The Journal of Neuroscience · doi:10.1523/jneurosci.0511-15.2016 · Cited by 64
Villalonga-Rosso, E., Mosrin-Huaman, C., Normand, T., Girardin, C., Serrano, A., Žunar, B., Doudeau, M., Godin, F., Bénédetti, H., & Vallée, B. (2023) · Cells · doi:10.3390/cells12050805 · Cited by 64
Schizophrenia genomics: genetic complexity and functional insights
Sullivan, P. F., Yao, S., & Hjerling‐Leffler, J. (2024) · Nature reviews. Neuroscience · doi:10.1038/s41583-024-00837-7 · Cited by 64
Bayés, À., Collins, M. O., Galtrey, C. M., Simonnet, C., Roy, M. M., Croning, M. D. R., Gou, G., van de Lagemaat, L. N., Milward, D., Whittle, I. R., et al. (2014) · Molecular Brain · doi:10.1186/s13041-014-0088-4 · Cited by 64
Self-citationCoupling of exocytosis and endocytosis at the presynaptic active zone
Maritzen, T., & Haucke, V. (2017) · Neuroscience Research · doi:10.1016/j.neures.2017.09.013 · Cited by 64
Jansen, S., Hoischen, A., Coe, B. P., Carvill, G. L., Esch, H. V., Bosch, D. G. M., Andersen, U. A., Baker, C. A., Bauters, M., Bernier, R., et al. (2017) · European Journal of Human Genetics · doi:10.1038/s41431-017-0039-5 · Cited by 64
Guo, H., Bettella, E., Marcogliese, P. C., Zhao, R., Andrews, J. C., Nowakowski, T. J., Gillentine, M. A., Hoekzema, K., Wang, T., Wu, H., et al. (2019) · Nature Communications · doi:10.1038/s41467-019-12435-8 · Cited by 64
Gene4Denovo: an integrated database and analytic platform for de novo mutations in humans
Zhao, G., Li, K., Li, B., Wang, Z., Fang, Z., Wang, X., Zhang, Y., Luo, T., Zhou, Q., Wang, L., et al. (2019) · Nucleic Acids Research · doi:10.1093/nar/gkz923 · Cited by 64
MacGillavry, H. D., Kerr, J. M., Kassner, J. D., Frost, N. A., & Blanpied, T. A. (2015) · European Journal of Neuroscience · doi:10.1111/ejn.13129 · Cited by 63
Zhao, Y., & Castellanos, F. X. (2016) · Journal of Child Psychology and Psychiatry · doi:10.1111/jcpp.12503 · Cited by 63
Forsyth, J. K., Nachun, D. C., Gandal, M. J., Geschwind, D. H., Anderson, A., Coppola, G., & Bearden, C. E. (2019) · Biological Psychiatry · doi:10.1016/j.biopsych.2019.06.029 · Cited by 62
Extracellular LGALS3BP regulates neural progenitor position and relates to human cortical complexity
Kyrousi, C., O’Neill, A. C., Brazovskaja, A., He, Z., Kielkowski, P., Coquand, L., Giaimo, R. D., Andrea, P. D., Belka, A., Forero, A., et al. (2021) · Nature Communications · doi:10.1038/s41467-021-26447-w · Cited by 62
Genetic links between ovarian ageing, cancer risk and de novo mutation rates
Stankovic, S., Shekari, S., Huang, Q. Q., Gardner, E. J., Ivarsdottir, E. V., Owens, N. D. L., Mavaddat, N., Azad, A., Hawkes, G., Kentistou, K. A., et al. (2024) · Nature · doi:10.1038/s41586-024-07931-x · Cited by 62
A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology
Migliavacca, E., Golzio, C., Männik, K., Blumenthal, I., Oh, E. C. T., Harewood, L., Kosmicki, J. A., Loviglio, M. N., Giannuzzi, G., Hippolyte, L., et al. (2015) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2015.04.002 · Cited by 62
Wang, Q., Lu, Q., & Zhao, H. (2015) · Frontiers in Genetics · doi:10.3389/fgene.2015.00149 · Cited by 62
Escudero, I., & Johnstone, M. (2014) · Current Psychiatry Reports · doi:10.1007/s11920-014-0502-8 · Cited by 61
On the Teneurin track: a new synaptic organization molecule emerges
Mosca, T. J. (2015) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2015.00204 · Cited by 61
Föcking, M., Dicker, P., Lopez, L. M., Hryniewiecka, M., Wynne, K. J., English, J. A., Cagney, G., & Cotter, D. (2016) · Translational Psychiatry · doi:10.1038/tp.2016.224 · Cited by 61
Chen, Y.-C., Sudre, G. P., Sharp, W. S., Donovan, F. X., Chandrasekharappa, S. C., Hansen, N. F., Elnitski, L. L., & Shaw, P. (2017) · Molecular Psychiatry · doi:10.1038/mp.2017.45 · Cited by 61
Metadata
- Authors
- Fromer, M., Pocklington, A. J., Kavanagh, D. H., Williams, H. J., Dwyer, S., Gormley, P., Georgieva, L., Rees, E., Palta, P., Ruderfer, D. M., Carrera, N., Humphreys, I., Johnson, J. S., Roussos, P., Barker, D. D., Banks, E., Milanova, V., Grant, S. G., Hannon, E., Rose, S. A., Chambert, K., Mahajan, M., Scolnick, E. M., Moran, J. L., Kirov, G., Palotie, A., McCarroll, S. A., Holmans, P., Sklar, P., Owen, M. J., Purcell, S. M., & O’Donovan, M. C.
- Affiliations
- Broad Institute (US)
- Cardiff University (GB)
- University of Helsinki (FI)
- Icahn School of Medicine at Mount Sinai (US)
- Medical University of Sofia (BG)
- University of Edinburgh (GB)
- Corresponding author
- Owen, Michael J.
- ORCID
- Fromer, Menachem
- Pocklington, Andrew J.
- Williams, Hywel J.
- Dwyer, Sarah
- Gormley, Padhraig
- Rees, Elliott
- Palta, Priit
- Ruderfer, Douglas M.
- Carrera, Noa
- Johnson, Jessica S.
- Roussos, Panos
- Banks, Eric
- Milanova, Vihra
- Grant, Seth G.
- Hannon, Eilis
- Rose, Samuel A.
- Scolnick, Edward M.
- Moran, Jennifer L.
- Kirov, George
- Palotie, Aarno
- McCarroll, Steven A.
- Holmans, Peter
- Sklar, Pamela
- Owen, Michael J.
- Purcell, Shaun M.
- O’Donovan, Michael C.
- Venue
- Nature
- Published
- 2014-01-22
- Volume
- 506
- Issue
- 7487
- Pages
- 179-184
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- PMC
- PMC4237002
- OpenAlex
- W2023962370
- Cited by
- 1,617
- References
- 43
- Citations by year
- 2026: 39 · 2025: 68 · 2024: 64 · 2023: 91 · 2022: 114 · 2021: 134 · 2020: 127 · 2019: 168 · 2018: 149 · 2017: 193 · 2016: 186 · 2015: 164 · 2014: 120
- FWCI
- 168.61
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Nature (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- RePEc: Research Papers in Economics (submittedVersion)
- UCL Discovery (University College London) (submittedVersion)
- ORCA Online Research @Cardiff (Cardiff University) (submittedVersion)
- Funders
- U.S. Department of Veterans Affairs (I01BX002395)
- Wellcome Trust (089062, WT 098051, WT089062, 098051)
- Medical Research Council (MR/L010305/1)
- National Institute of Mental Health (P50MH066392, R01MH071681, R01MH099126)
- National Human Genome Research Institute (R01HG005827)
- Topics
- Health Sciences › Medicine › Psychiatry and Mental health › Schizophrenia research and treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Keywords
- schizophrenia, de novo mutations, synaptic proteins, glutamatergic synapses, activity-regulated cytoskeleton-associated protein, NMDA receptor, FMRP, actin filament dynamics, autism spectrum disorder, intellectual disability, neurodevelopmental disorders, synaptic efficacy
- MeSH terms
- Child Development Disorders, Pervasive, Cytoskeletal Proteins, Humans, Intellectual Disability, Models, Neurological, Mutation, Nerve Net, Nerve Tissue Proteins, Neural Pathways, Phenotype, RNA, Messenger, Schizophrenia, Substrate Specificity, Synapses, Receptors, N-Methyl-D-Aspartate, Fragile X Messenger Ribonucleoprotein 1, Exome, Mutation Rate
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