De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia
Open accessAbstract
To evaluate evidence for de novo etiologies in schizophrenia, we sequenced at high coverage the exomes of families recruited from two populations with distinct demographic structures and history. We sequenced a total of 795 exomes from 231 parent-proband trios enriched for sporadic schizophrenia cases, as well as 34 unaffected trios. We observed in cases an excess of de novo nonsynonymous single-nucleotide variants as well as a higher prevalence of gene-disruptive de novo mutations relative to controls. We found four genes (LAMA2, DPYD, TRRAP and VPS39) affected by recurrent de novo events within or across the two populations, which is unlikely to have occurred by chance. We show that de novo mutations affect genes with diverse functions and developmental profiles, but we also find a substantial contribution of mutations in genes with higher expression in early fetal life. Our results help define the genomic and neural architecture of schizophrenia.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
CHD2, SYNGAP1, and SYNCRIP are also affected by LoF de novo SNVs in ID, and SYNGAP1 and DPYD are altered in schizophrenia.
“Three other genes affected by de novo CNVs (also picked by NETBAG)—CHD2, SYNGAP1, and SYNCRIP—are also affected by LoF de novo SNVs in ID,50,52 and two (SYNGAP1 and DPYD [MIM 612779]) are altered in schizophrenia.53”
From Convergence of genes and cellular pathways dysregulated in autism spectrum disorders (2014) · cites this paper as [53]
The authors did not find evidence of dURV enrichment in DPYD (two dURVs in cases, six in controls) or DISC1 (one in cases, two in controls).
“We did not find any evidence of enrichment of dURVs in DPYD19 (in which we found two dURVs in cases and six in controls), nor in DISC120 (one dURV among cases and two in controls) (Supplementary Table 3).”
From Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia (2016) · cites this paper as [19]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources
Huang, D. W., Sherman, B. T., & Lempicki, R. A. (2009) · Nature Protocols · doi:10.1038/nprot.2008.211 · Cited by 35,890 · see citing works
A method and server for predicting damaging missense mutations.
Adzhubei, I. A., Schmidt, S., Peshkin, L., Ramensky, V. E., Gerasimova, A., Bork, P., Kondrashov, A. S., & Sunyaev, S. R. (2010) · Nature Methods · doi:10.1038/nmeth0410-248 · Cited by 13,194 · see citing works
Human Splicing Finder: an online bioinformatics tool to predict splicing signals
Desmet, F.-O., Hamroun, D., Lalande, M., Collod‐Béroud, G., Claustres, M., & Béroud, C. (2009) · Nucleic Acids Research · doi:10.1093/nar/gkp215 · Cited by 2,513 · see citing works
Amino Acid Difference Formula to Help Explain Protein Evolution
Grantham, R. L. (1974) · Science · doi:10.1126/science.185.4154.862 · Cited by 2,363 · see citing works
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 · see citing works
Spatio-temporal transcriptome of the human brain
Kang, H. J., Kawasawa, Y. I., Cheng, F., Zhu, Y., Xu, X., Li, M., Sousa, A. M. M., Pletikos, M., Meyer, K. A., Sedmak, G., et al. (2011) · Nature · doi:10.1038/nature10523 · Cited by 2,084 · see citing works
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 · 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
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 · see citing works
Self-citationThrombospondins are astrocyte-secreted proteins that promote CNS synaptogenesis
Christopherson, K. S., Ullian, E. M., Stokes, C. C. A., Mullowney, C. E., Hell, J. W., Agah, A., Lawler, J., Mosher, D. F., Bornstein, P., & Barres, B. A. (2005) · Cell · doi:10.1016/j.cell.2004.12.020 · Cited by 1,688 · 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
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
Strong association of de novo copy number mutations with sporadic schizophrenia
Xu, B., Roos, J. L., Levy, S., van Rensburg, E. J., Gogos, J. A., & Karayiorgou, M. (2008) · Nature Genetics · doi:10.1038/ng.162 · Cited by 813 · see citing works
Self-citationCognition in schizophrenia: core psychological and neural mechanisms
Barch, D. M., & Ceaser, A. E. (2011) · Trends in Cognitive Sciences · doi:10.1016/j.tics.2011.11.015 · Cited by 752 · see citing works
Temporal dynamics and genetic control of transcription in the human prefrontal cortex
Colantuoni, C., Lipska, B. K., Ye, T., Hyde, T. M., Tao, R., Leek, J. T., Colantuoni, E. A., Elkahloun, A. G., Herman, M. M., Weinberger, D. R., et al. (2011) · Nature · doi:10.1038/nature10524 · Cited by 685 · see citing works
Altered brain microRNA biogenesis contributes to phenotypic deficits in a 22q11-deletion mouse model
Stark, K. L., Xu, B., Bagchi, A., Lai, W.-S., Liu, H., Hsu, R., Wan, X., Pavlidis, P., Mills, A. A., Karayiorgou, M., et al. (2008) · Nature Genetics · doi:10.1038/ng.138 · Cited by 648 · see citing works
Self-citationSchizophrenia susceptibility associated with interstitial deletions of chromosome 22q11.
Karayiorgou, M., Morris, M. A., Morrow, B., Shprintzen, R. J., Goldberg, R., Borrow, J., Gos, A., Nestadt, G., Wolyniec, P. S., & Lasseter, V. K. (1995) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.92.17.7612 · Cited by 628 · see citing works
Self-citationKryukov, G. V., Pennacchio, L. A., & Sunyaev, S. R. (2007) · The American Journal of Human Genetics · doi:10.1086/513473 · Cited by 598 · see citing works
Exome sequencing supports a de novo mutational paradigm for schizophrenia
Xu, B., Roos, J. L., Dexheimer, P. J., Boone, B. E., Plummer, B., Levy, S., Gogos, J. A., & Karayiorgou, M. (2011) · Nature Genetics · doi:10.1038/ng.902 · Cited by 465 · see citing works
Self-citationIncreased exonic de novo mutation rate in individuals with schizophrenia
Girard, S. L., Gauthier, J., Noreau, A., Xiong, L., Zhou, S., Jouan, L., Dionne-Laporte, A., Spiegelman, D., Henrion, E., Diallo, O., et al. (2011) · Nature Genetics · doi:10.1038/ng.886 · Cited by 438 · see citing works
Rossin, E. J., Lage, K., Raychaudhuri, S., Xavier, R. J., Tatar, D., Benita, Y., Constortium, I. I. B. D. G., Cotsapas, C., & Daly, M. J. (2011) · PLoS Genetics · doi:10.1371/journal.pgen.1001273 · Cited by 438 · see citing works
High frequencies of de novo CNVs in bipolar disorder and schizophrenia
Malhotra, D., McCarthy, S., Michaelson, J. J., Vacic, V., Burdick, K. E., Yoon, S., Cichon, S., Corvin, A., Gary, S., Gershon, E. S., et al. (2011) · Neuron · doi:10.1016/j.neuron.2011.11.007 · Cited by 325 · see citing works
Self-citationEssential role of α6 integrins in cortical and retinal lamination
Georges‐Labouesse, E., Mark, M. P., Messaddeq, N., & Gansmüller, A. (1998) · Current Biology · doi:10.1016/s0960-9822(98)70402-6 · Cited by 304 · see citing works
Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency
Kuilenburg, A. B. P., Vreken, P., Abeling, N. G. G. M., Bakker, H. D., Meinsma, R., van LENTHE, H., ABREU, R. A. D., Smeitink, J. A. M., Kayserili, H., Apak, M. Y., et al. (1999) · Human Genetics · doi:10.1007/pl00008711 · Cited by 282 · see citing works
β-Alanine as a small molecule neurotransmitter
Tiedje, K. E., Stevens, K. T., Barnes, S., & Weaver, D. F. (2010) · Neurochemistry International · doi:10.1016/j.neuint.2010.06.001 · Cited by 213 · see citing works
Willemsen, M. H., Vallès, A., Kirkels, L. A. M. H., Mastebroek, M., Olde Loohuis, N., Kos, A., Wissink-Lindhout, W. M., de Brouwer, A. P. M., Nillesen, W. M., Pfundt, R., et al. (2011) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2011-100294 · Cited by 202 · see citing works
Diverse types of genetic variation converge on functional gene networks involved in schizophrenia
Gilman, S. R., Chang, J., Xu, B., Bawa, T. S., Gogos, J. A., Karayiorgou, M., & Vitkup, D. (2012) · Nature Neuroscience · doi:10.1038/nn.3261 · Cited by 200 · see citing works
Self-citationThe expanding phenotype of laminin α2 chain (merosin) abnormalities: case series and review
Jones, K., Morgan, G., Johnston, H., Tobias, V., Ouvrier, R. A., Wilkinson, I., & North, K. N. (2001) · Journal of Medical Genetics · doi:10.1136/jmg.38.10.649 · Cited by 181 · see citing works
Xu, B., Woodroffe, A., Rodriguez‐Murillo, L., Roos, J. L., van Rensburg, E. J., Abecasis, G. R., Gogos, J. A., & Karayiorgou, M. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0908584106 · Cited by 154 · see citing works
Self-citationThe Genetic Architecture of Schizophrenia: New Mutations and Emerging Paradigms
Rodriguez‐Murillo, L., Gogos, J. A., & Karayiorgou, M. (2011) · Annual Review of Medicine · doi:10.1146/annurev-med-072010-091100 · Cited by 120 · see citing works
Self-citationCarter, M., Nikkel, S., Fernandez, B., Marshall, C., Noor, A., Lionel, A., Prasad, A., Pinto, D., Joseph-George, A., Noakes, C., et al. (2011) · Clinical Genetics · doi:10.1111/j.1399-0004.2010.01578.x · Cited by 77 · see citing works
New directions in the epidemiology of schizophrenia
McGrath, J. J., & Susser, E. (2009) · The Medical Journal of Australia · doi:10.5694/j.1326-5377.2009.tb02366.x · Cited by 77 · see citing works
Ben‐David, E., Granot‐Hershkovitz, E., Monderer‐Rothkoff, G., Lerer, E., Levi, S., Yaari, M., Ebstein, R. P., Yirmiya, N., & Shifman, S. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr283 · Cited by 69 · see citing works
Genetic and cognitive windows into circuit mechanisms of psychiatric disease
Arguello, P. A., & Gogos, J. A. (2011) · Trends in Neurosciences · doi:10.1016/j.tins.2011.11.007 · Cited by 66 · see citing works
Self-citationThe best of times, the worst of times for psychiatric disease
the Genetic and Neural Complexity in Psychiatry 2011 Working Group, Karayiorgou, M., Jonathan Flint, C., Gogos, J. A., & Malenka, R. C. (2012) · Nature Neuroscience · doi:10.1038/nn.3115 · Cited by 45 · see citing works
Self-citationSobin, C. A., Roos, J. L., Pretorius, H., Lundy, L. S., & Karayiorgou, M. (2003) · Psychiatry Research · doi:10.1016/s0165-1781(02)00321-9 · Cited by 26 · see citing works
Self-citation
Flagged first, then by citations
1 of the 37 references couldn’t be matched to a known paper.
Cited by
Sorted by citations
Burnside, R. D. (2015) · Cytogenetic and Genome Research · doi:10.1159/000438708 · Cited by 1,958 · 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
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
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 · see citing works
“, 2012), although some data suggest a link with particular classes of gene, such as those with higher brain expression in early fetal life (Xu et al., 2012).”
InfluentialKahn, R. S., Sommer, I. E., Murray, R. M., Meyer‐Lindenberg, A., Weinberger, D. R., Cannon, T. D., O’Donovan, M. C., Correll, C. U., Kane, J. M., van Os, J., et al. (2015) · Nature Reviews Disease Primers · doi:10.1038/nrdp.2015.67 · Cited by 1,132 · 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
Shared molecular neuropathology across major psychiatric disorders parallels polygenic overlap
Gandal, M. J., Haney, J. R., Parikshak, N. N., Leppa, V., Ramaswami, G., Hartl, C., Schork, A. J., Appadurai, V., Buil, A., Werge, T. M., et al. (2018) · Science · doi:10.1126/science.aad6469 · Cited by 1,095 · see citing works
InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines
Li, Q., & Wang, K. (2017) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.01.004 · Cited by 1,035 · see citing works
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders
Pinto, D., Delaby, E., Merico, D., Barbosa, M., Merikangas, A., Klei, L., Thiruvahindrapuram, B., Xu, X., Ziman, R., Wang, Z., et al. (2014) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2014.03.018 · Cited by 969 · see citing works
“Three other genes affected by de novo CNVs (also picked by NETBAG)—CHD2, SYNGAP1, and SYNCRIP—are also affected by LoF de novo SNVs in ID,(50,52) and two (SYNGAP1 and DPYD [MIM 612779]) are altered in schizophrenia.(53) CHD2 (discussed above) and SYNGAP1 (encoding a Ras/Rap GTP-activating protein) are both involved in…”
BackgroundThe Next-Generation Sequencing Revolution and Its Impact on Genomics
Koboldt, D. C., Steinberg, K. M., Larson, D. E., Wilson, R. K., & Mardis, E. R. (2013) · Cell · doi:10.1016/j.cell.2013.09.006 · Cited by 1,039 · see citing works
“De novo mutational paradigms have also been suggested by exome sequencing in sporadic psychiatric disorders, such as schizophrenia (Girard et al., 2011; Xu et al., 2012).”
A 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
Inferring the molecular and phenotypic impact of amino acid variants with MutPred2
Pejaver, V., Urresti, J., Lugo-Martinez, J., Pagel, K. A., Lin, G. N., Nam, H.-J., Mort, M., Cooper, D. N., Sebat, J., Iakoucheva, L. M., et al. (2020) · Nature Communications · doi:10.1038/s41467-020-19669-x · Cited by 923 · see citing works
A spectral approach integrating functional genomic annotations for coding and noncoding variants
Ionita‐Laza, I., McCallum, K., Xu, B., & Buxbaum, J. D. (2016) · Nature Genetics · doi:10.1038/ng.3477 · Cited by 588 · see citing works
“For SCZ, we have n =636 mutations of which 571 are missense [27, 28, 29, 30, 31].”
BackgroundSelf-citationThe dysconnection hypothesis (2016)
Friston, K., Brown, H. R., Siemerkus, J., & Stephan, K. E. (2016) · Schizophrenia Research · doi:10.1016/j.schres.2016.07.014 · Cited by 561 · see citing works
“…patients carry a higher burden of non-synonymous and deleterious de novo SNPs (variants that result from a new mutational event and are unique to the child) than normal controls (Girard et al., 2011; Xu et al., 2011), some of which have been replicated in unrelated patients (Xu et al., 2012).”
BackgroundGulsuner, S., Walsh, T., Watts, A. C., Lee, M. K., Thornton, A. M., Casadei, S., Rippey, C., Shahin, H., Braff, D., Cadenhead, K. S., et al. (2013) · Cell · doi:10.1016/j.cell.2013.06.049 · Cited by 536 · see citing works
“Genes implicated in schizophrenia and autism function in processes important to fetal brain development, including axon guidance, neuronal cell mobility, synaptic function, and chromosomal remodeling (Gilman et al., 2012; Xu et al., 2012).”
InfluentialDendritic structural plasticity and neuropsychiatric disease
Forrest, M. P., Parnell, E., & Penzes, P. (2018) · Nature Reviews Neuroscience · doi:10.1038/nrn.2018.16 · Cited by 464 · see citing works
Genetic insights into the neurodevelopmental origins of schizophrenia
Birnbaum, R., & Weinberger, D. R. (2017) · Nature reviews. Neuroscience · doi:10.1038/nrn.2017.125 · Cited by 493 · see citing works
Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia
Genovese, G., Fromer, M., Stahl, E. A., Ruderfer, D. M., Chambert, K., Landén, M., Moran, J. L., Purcell, S. M., Sklar, P., Sullivan, P. F., et al. (2016) · Nature Neuroscience · doi:10.1038/nn.4402 · Cited by 444 · see citing works
Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability
Lelieveld, S. H., Reijnders, M. R. F., Pfundt, R., Yntema, H. G., Kamsteeg, E.-J., de Vries, P., de Vries, B. B. A., Willemsen, M. H., Kleefstra, T., Löhner, K., et al. (2016) · Nature Neuroscience · doi:10.1038/nn.4352 · Cited by 442 · see citing works
De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies
Appenzeller, S., Balling, R., Barisic, N., Baulac, S., Caglayan, H., Craiu, D., De Jonghe, P., Depienne, C., Dimova, P., Djémié, T., et al. (2014) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2014.08.013 · Cited by 439 · see citing works
Genetics and genomics of psychiatric disease
Geschwind, D. H., & Flint, J. (2015) · Science · doi:10.1126/science.aaa8954 · Cited by 424 · see citing works
New insights into the generation and role of de novo mutations in health and disease
Acuña‐Hidalgo, R., Veltman, J. A., & Hoischen, A. (2016) · Genome biology · doi:10.1186/s13059-016-1110-1 · Cited by 451 · see citing works
“Recent studies have exposed a genetic overlap between neurodevelopmental disorders and schizophrenia, with de novo mutations in the same gene being involved in both early and late-onset disorders [138–140].”
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
O'Rawe, J., Jiang, T., Sun, G., Wu, Y., Wang, W., Hu, J., Bodily, P., Tian, L., Hakonarson, H. H., Johnson, W. E., et al. (2013) · Genome Medicine · doi:10.1186/gm432 · Cited by 443 · see citing works
“Although most studies utilizing NGS data to date have focused on ‘quads’ or ‘trios’ [47-51], studying large and/or consanguineous families can maximize the utility of filtering strategies and statistical approaches for identifying disease-contributory variants in genetic disease [52].”
BackgroundDe Novo Mutations in Moderate or Severe Intellectual Disability
Hamdan, F. F., Srour, M., Capo-Chichi, J.-M., Daoud, H., Nassif, C., Patry, L., Massicotte, C., Ambalavanan, A., Spiegelman, D., Diallo, O., et al. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1004772 · Cited by 419 · see citing works
“We found a significant excess of these de novo nonsense and splice site mutations in the probands of our cohort when compared to data from exome sequencing of 54 control trios with no family history of ID [4,11] or of 593 quartets, including unaffected siblings of individuals with ASD (R binomial test, p = 0.”
BackgroundResultLarge-scale genomics unveils the genetic architecture of psychiatric disorders
Gratten, J., Wray, N. R., Keller, M. C., & Visscher, P. M. (2014) · Nature Neuroscience · doi:10.1038/nn.3708 · Cited by 363 · see citing works
Skene, N., & Grant, S. G. N. (2016) · Frontiers in Neuroscience · doi:10.3389/fnins.2016.00016 · Cited by 332 · see citing works
“Raw cell type mRNA expression data was downloaded from the Linnarsson lab webpage (data annotated as being from 17th August 2014) (Zeisel et al., 2015).”
BackgroundMethodInfluentialWhole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios
Zhu, X., Petrovski, S., Xie, P., Ruzzo, E. K., Lu, Y., McSweeney, K. M., Ben‐Zeev, B., Nissenkorn, A., Anikster, Y., Oz-Levi, D., et al. (2015) · Genetics in Medicine · doi:10.1038/gim.2014.191 · Cited by 340 · see citing works
McCarthy, S. E., Gillis, J., Kramer, M., Lihm, J., Yoon, S. C., Berstein, Y., Mistry, M., Pavlidis, P., Solomon, R., Ghiban, E., et al. (2014) · Molecular Psychiatry · doi:10.1038/mp.2014.29 · Cited by 332 · see citing works
Genetic Risk for Schizophrenia: Convergence on Synaptic Pathways Involved in Plasticity
Hall, J., Trent, S., Thomas, K. L., O’Donovan, M. C., & Owen, M. J. (2015) · Biological Psychiatry · doi:10.1016/j.biopsych.2014.07.011 · Cited by 290 · see citing works
“The conclusions that can be derived from similar studies in schizophrenia populations have previously been less clear, possibly due to limited sample sizes and/or differences in analysis methods (28,29).”
ResultExome sequencing reveals new causal mutations in children with epileptic encephalopathies
Veeramah, K. R., Johnstone, L. M., Karafet, T. M., Wolf, D., Sprissler, R. S., Salogiannis, J., Barth‐Maron, A., Greenberg, M. E., Stuhlmann, T., Weinert, S., et al. (2013) · Epilepsia · doi:10.1111/epi.12201 · Cited by 294 · see citing works
“…in identifying candidate pathogenic de novo mutations in patients with neurodevelopmental disorders (Vissers et al., 2010; de Ligt et al., 2012; Neale et al., 2012; O’Roak et al., 2012; Rauch et al., 2012; Sanders et al., 2012; Xu et al., 2012), including epilepsy (Veeramah et al., 2012).”
BackgroundGenetic Relationships Between Schizophrenia, Bipolar Disorder, and Schizoaffective Disorder
Cardno, A. G., & Owen, M. J. (2014) · Schizophrenia Bulletin · doi:10.1093/schbul/sbu016 · Cited by 275 · see citing works
Turner, T. N., Hormozdiari, F., Duyzend, M., McClymont, S. A., Hook, P. W., Iossifov, I. H., Raja, A. N., Baker, C. A., Hoekzema, K., Stessman, H. A. F., et al. (2015) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2015.11.023 · Cited by 263 · see citing works
“The gene is highly expressed in human neurons derived from induced pluripotent stem cells(59) and has been predicted to be a protein-protein interaction hub associated with de novomutations in individuals with schizophrenia.(60) Interestingly, this particular affected female individual has the highest burden of de nov…”
BackgroundSingh, 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
Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy
McMichael, G., Bainbridge, M. N., Haan, E., Corbett, M. A., Gardner, A. E., Thompson, S. C., van Bon, B. W. M., van Eyk, C. L., Broadbent, J., Reynolds, C. A., et al. (2015) · Molecular Psychiatry · doi:10.1038/mp.2014.189 · Cited by 244 · see citing works
Molecular psychiatry of zebrafish
Stewart, A. M., Ullmann, J. F. P., Norton, W., Parker, M. O., Brennan, C. H., Gerlai, R. T., & Kalueff, A. V. (2014) · Molecular Psychiatry · doi:10.1038/mp.2014.128 · Cited by 230 · see citing works
Loss-of-Function Variants in Schizophrenia Risk and SETD1A as a Candidate Susceptibility Gene
Takata, A., Xu, B., Ionita-Laza, I., Roos, J. L., Gogos, J. A., & Karayiorgou, M. (2014) · Neuron · doi:10.1016/j.neuron.2014.04.043 · Cited by 204 · see citing works
“…2–5) in genes in which LOF de novo variant(s) were identified in the previous WES studies for SCZ (Girard et al., 2011; Gulsuner et al., 2013; Xu et al., 2012; Xu et al., 2011) or high-reliability candidate(s) were detected in our present analysis from our case subjects, to maximize the…”
InfluentialSelf-citationNovel 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
Li, J., Cai, T., Jiang, Y. W., Chen, H., He, X., Chen, C., Li, X., Shao, Q., Xia, R., Li, Z., et al. (2015) · Molecular Psychiatry · doi:10.1038/mp.2015.40 · Cited by 208 · see citing works
McKie, S. J., Neuman, K. C., & Maxwell, A. (2021) · BioEssays · doi:10.1002/bies.202000286 · Cited by 205 · see citing works
“Deletion or mutation of the topo IIIβ gene is linked to schizophrenia and autism.[53,57,58] InDrosophila, neuronal synapse for-”
BackgroundDiverse types of genetic variation converge on functional gene networks involved in schizophrenia
Gilman, S. R., Chang, J., Xu, B., Bawa, T. S., Gogos, J. A., Karayiorgou, M., & Vitkup, D. (2012) · Nature Neuroscience · doi:10.1038/nn.3261 · Cited by 200 · see citing works
Self-citationDe Novo Coding Variants Are Strongly Associated with Tourette Disorder
Willsey, A. J., Fernandez, T. V., Yu, D., King, R. A., Dietrich, A., Xing, J., Sanders, S. J., Mandell, J. D., Huang, A. Y., Richer, P., et al. (2017) · Neuron · doi:10.1016/j.neuron.2017.04.024 · Cited by 187 · see citing works
Takata, A., Matsumoto, N., & Kato, T. (2017) · Nature Communications · doi:10.1038/ncomms14519 · Cited by 184 · see citing works
“…was reported that a subset of de novo germline mutations, whose important roles in the genetic aetiology of neuropsychiatric disorders such as autism spectrum disorders (ASDs) and schizophrenia has been established 6–10 , probably contribute to the risk of ASD and schizophrenia by affecting AS 11 .”
Shared Molecular Neuropathology Across Major Psychiatric Disorders Parallels Polygenic Overlap
Gandal, M. J., Haney, J. R., Parikshak, N., Leppä, V., Ramaswami, G., Hartl, C., Schork, A. J., Appadurai, V., Buil, A., Werge, T. M., et al. (2019) · FOCUS The Journal of Lifelong Learning in Psychiatry · doi:10.1176/appi.focus.17103 · Cited by 209 · see citing works
Witt, S. H., Streit, F., Jungkunz, M., Frank, J., Awasthi, S., Reinbold, C. S., Treutlein, J., Degenhardt, F., Forstner, A. J., Heilmann‐Heimbach, S., et al. (2017) · Translational Psychiatry · doi:10.1038/tp.2017.115 · Cited by 193 · see citing works
Howrigan, D. P., Rose, S. A., Samocha, K. E., Fromer, M., Cerrato, F., Chen, W. J., Churchhouse, C., Chambert, K., Chandler, S. D., Daly, M. J., et al. (2020) · Nature Neuroscience · doi:10.1038/s41593-019-0564-3 · Cited by 168 · see citing works
Kenny, E. M., Cormican, P., Furlong, S., Heron, E. A., Kenny, G., Fahey, C., Kelleher, E., Ennis, S., Tropea, D., Anney, R., et al. (2013) · Molecular Psychiatry · doi:10.1038/mp.2013.127 · Cited by 190 · see citing works
Recent genetic findings in schizophrenia and their therapeutic relevance
Harrison, P. J. (2014) · Journal of Psychopharmacology · doi:10.1177/0269881114553647 · Cited by 186 · see citing works
“Similarly, genes predominantly expressed in fetal brain are less appealing as drug targets, other things being equal, than those abundantly expressed throughout adulthood (see Gulsuner et al., 2013; Xu et al., 2012).”
BackgroundZech, M., Boesch, S., Maier, E. M., Borggraefe, I., Vill, K., Laccone, F. A., Pilshofer, V., Ceballos-Baumann, A., Alhaddad, B., Berutti, R., et al. (2016) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2016.10.010 · Cited by 172 · see citing works
Deletion of TOP3β, a component of FMRP-containing mRNPs, contributes to neurodevelopmental disorders
Stoll, G., Pietiläinen, O. P. H., Linder, B., Suvisaari, J., Brosi, C., Hennah, W., Leppä, V., Torniainen‐Holm, M., Ripatti, S., Ala‐Mello, S., et al. (2013) · Nature Neuroscience · doi:10.1038/nn.3484 · Cited by 172 · see citing works
Proteomic and genomic evidence implicates the postsynaptic density in schizophrenia
Föcking, M., Lopez, L. M., English, J. A., Dicker, P., Wolff, A., Brindley, E., Wynne, K. J., Cagney, G., & Cotter, D. (2014) · Molecular Psychiatry · doi:10.1038/mp.2014.63 · Cited by 156 · see citing works
Prioritization of neurodevelopmental disease genes by discovery of new mutations
Hoischen, A., Krumm, N., & Eichler, E. E. (2014) · Nature Neuroscience · doi:10.1038/nn.3703 · Cited by 149 · see citing works
Xu, D., Shen, W., Guo, R., Xue, Y., Peng, W., Sima, J., Yang, J., Sharov, A. A., Srikantan, S., Yang, J., et al. (2013) · Nature Neuroscience · doi:10.1038/nn.3479 · Cited by 146 · see citing works
Xu, B., Hsu, P.-K., Stark, K. L., Karayiorgou, M., & Gogos, J. A. (2013) · Cell · doi:10.1016/j.cell.2012.11.052 · Cited by 145 · see citing works
Self-citationRecapitulation and Reversal of Schizophrenia-Related Phenotypes in Setd1a-Deficient Mice
Mukai, J., Cannavò, E., Crabtree, G. W., Sun, Z., Diamantopoulou, A., Thakur, P., Chang, C., Cai, Y., Lomvardas, S., Takata, A., et al. (2019) · Neuron · doi:10.1016/j.neuron.2019.09.014 · Cited by 144 · see citing works
Self-citationGenetics of Schizophrenia: Overview of Methods, Findings and Limitations
Henriksen, M. G., Nordgaard, J., & Jansson, L. B. (2017) · Frontiers in Human Neuroscience · doi:10.3389/fnhum.2017.00322 · Cited by 169 · see citing works
“Some studies have reported a slightly increased exome-wide level of rare and/or de novo SNVs in patients with schizophrenia compared to controls (Xu et al., 2012; McCarthy et al., 2014a, 2016) but this finding has not been replicated in larger studies (Fromer et al., 2014; Purcell et al., 2014).”
ResultSystems genetics identifies a convergent gene network for cognition and neurodevelopmental disease
Johnson, M. R., Shkura, K., Langley, S. R., Delahaye‐Duriez, A., Srivastava, P. K., Hill, W. D., Rackham, O. J. L., Davies, G., Harris, S. E., Moreno‐Moral, A., et al. (2015) · Nature Neuroscience · doi:10.1038/nn.4205 · Cited by 132 · see citing works
Wang, Q., Chen, R., Cheng, F., Wei, Q., Ji, Y., Hai, Y., Zhong, X. Y., Tao, R., Wen, Z., Sutcliffe, J. S., et al. (2019) · Nature Neuroscience · doi:10.1038/s41593-019-0382-7 · Cited by 130 · see citing works
One gene, many neuropsychiatric disorders: lessons from Mendelian diseases
Zhu, X., Need, A. C., Petrovski, S., & Goldstein, D. B. (2014) · Nature Neuroscience · doi:10.1038/nn.3713 · Cited by 131 · see citing works
Analysis of miR-137 expression and rs1625579 in dorsolateral prefrontal cortex
Guella, I., Sequeira, A., Rollins, B. L., Morgan, L., Torri, F., van Erp, T. G. M., Myers, R., Barchas, J. D., Schatzberg, A. F., Watson, S. J., et al. (2013) · Journal of Psychiatric Research · doi:10.1016/j.jpsychires.2013.05.021 · Cited by 132 · see citing works
“It is noteworthy to mention that a recent paper by Xu et al. (Xu et al., 2012) reported two de novo mutations in the DPYD gene.”
BackgroundCostain, G., Lionel, A. C., Merico, D., Forsythe, P., Russell, K., Lowther, C., Yuen, T., Husted, J., Stavropoulos, D. J., Speevak, M. D., et al. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt297 · Cited by 134 · see citing works
“Indeed, there was a notable degree of overlap between the promising candidate genes overlapped by rare CNVs in our sample (Tables 1, 2, 4) and those genes containing rare SNVs in schizophrenia cases in recent next-generation sequencing studies (34,35).”
BackgroundResultInfluentialGenetic 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
The Intolerance of Regulatory Sequence to Genetic Variation Predicts Gene Dosage Sensitivity
Petrovski, S., Gussow, A. B., Wang, Q., Halvorsen, M., Han, Y., Weir, W. H., Allen, A. S., & Goldstein, D. B. (2015) · PLoS Genetics · doi:10.1371/journal.pgen.1005492 · Cited by 126 · see citing works
Takata, 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
Self-citationLiu, Y., Ouyang, P., Zheng, Y., Mi, L., Zhao, J., Ning, Y., & Guo, W. (2021) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2021.664535 · Cited by 129 · see citing works
Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes
2p15 Consortium, Loviglio, M. N., 16p11.2 Consortium, Leleu, M., Männik, K., Passeggeri, M., Giannuzzi, G., van der Werf, I., Waszak, S. M., Zazhytska, M., et al. (2017) · Molecular Psychiatry · doi:10.1038/mp.2016.84 · Cited by 118 · see citing works
De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions
Mencacci, N. E., Kamsteeg, E.-J., Nakashima, K., R’Bibo, L., Lynch, D. S., Balint, B., Willemsen, M. A. A. P., Adams, M. E., Wiethoff, S., Suzuki, K., et al. (2016) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2016.02.015 · Cited by 123 · see citing works
The Pattern of Cortical Dysfunction in a Mouse Model of a Schizophrenia-Related Microdeletion
Fénelon, K., Xu, B., Lai, C. S., Mukai, J., Markx, S., Stark, K. L., Hsu, P.-K., Gan, W.-B., Fischbach, G. D., MacDermott, A. B., et al. (2013) · The Journal of Neuroscience · doi:10.1523/jneurosci.1611-13.2013 · Cited by 116 · see citing works
Self-citationKim, J., Shinde, D. N., Reijnders, M. R. F., Hauser, N. S., Belmonte, R. L., Wilson, G. R., Bosch, D. G. M., Bubulya, P. A., Shashi, V., Petrovski, S., et al. (2016) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2016.06.029 · Cited by 111 · see citing works
A unified haplotype-based method for accurate and comprehensive variant calling
Cooke, D. P., Wedge, D. C., & Lunter, G. A. (2021) · Nature Biotechnology · doi:10.1038/s41587-021-00861-3 · Cited by 112 · see citing works
The FMRP regulon: from targets to disease convergence
Fernández, E., Rajan, N., & Bagni, C. (2013) · Frontiers in Neuroscience · doi:10.3389/fnins.2013.00191 · Cited by 111 · see citing works
“Recently, it has been observed that topoisomerase Top3β, a risk gene for SCZ and ASD (Iossifov et al., 2012; Xu et al., 2012; Stoll et al., 2013), binds to FMRP and modifies the function of this protein in vitro, thereby supporting normal neurodevelopment and averting mental disorders (Xu et al.,…”
BackgroundThe developmental transcriptome of the human brain: implications for neurodevelopmental disorders
Tebbenkamp, A. T. N., Willsey, A. J., State, M. W., & Šestan, N. (2014) · Current Opinion in Neurology · doi:10.1097/wco.0000000000000069 · Cited by 110 · 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
Kim, T., Yao, R., Monnell, T. E., Cho, J.-H., Vasudevan, A., Koh, A., Peeyush, K. T., Moon, M., Datta, D., Bolshakov, V. Y., et al. (2014) · Stem Cells · doi:10.1002/stem.1704 · Cited by 106 · see citing works
Classics in Chemical Neuroscience: Ketamine
Tyler, M. W., Yourish, H. B., Ionescu, D. F., & Haggarty, S. J. (2017) · ACS Chemical Neuroscience · doi:10.1021/acschemneuro.7b00074 · Cited by 106 · see citing works
Tamura, M., Mukai, J., Gordon, J. A., & Gogos, J. A. (2016) · Neuron · doi:10.1016/j.neuron.2016.01.025 · Cited by 98 · see citing works
Self-citationRees, E., Creeth, H., Hwu, H., Chen, W. J., Tsuang, M. T., Glatt, S. J., Rey, R., Kirov, G., Walters, J., Holmans, P., et al. (2021) · Nature Communications · doi:10.1038/s41467-021-25532-4 · Cited by 103 · see citing works
Next-generation sequencing for research and diagnostics in kidney disease
Renkema, K. Y., Stokman, M. F., Giles, R. H., & Knoers, N. V. A. M. (2014) · Nature Reviews Nephrology · doi:10.1038/nrneph.2014.95 · Cited by 105 · see citing works
Kataoka, M., Matoba, N., Sawada, T., Kazuno, A.-A., Ishiwata, M., Fujii, K., Matsuo, K., Takata, A., & Kato, T. (2016) · Molecular Psychiatry · doi:10.1038/mp.2016.69 · Cited by 104 · see citing works
Schizophrenia in 2020: Trends in diagnosis and therapy
Gäebel, W., & Zielasek, J. (2015) · Psychiatry and Clinical Neurosciences · doi:10.1111/pcn.12322 · Cited by 104 · see citing works
Crabtree, G. W., & Gogos, J. A. (2014) · Frontiers in Synaptic Neuroscience · doi:10.3389/fnsyn.2014.00028 · Cited by 102 · see citing works
“Overall these findings of cognitive deficits in the face of largely normal hippocampal electrophysiological function suggest that the primary dysfunction in the deletion syndrome mouse is likely due to a primary functional deficit in PFC microcircuit function and the connectivity between the PFC…”
BackgroundSelf-citationBreen, M. S., Dobbyn, A. L., Li, Q., Roussos, P., Hoffman, G. E., Stahl, E. A., Chess, A. J., Sklar, P. B., Li, J. B., Devlin, B., et al. (2019) · Nature Neuroscience · doi:10.1038/s41593-019-0463-7 · Cited by 101 · see citing works
“Large-scale mapping of genetic risk variants has identified multiple rare copy number variants 3 , several rare single nucleotide variants 4,5 , and >100 common genetic loci 6 , the latter exerting small polygenetic effects on disease risk.”
Network-assisted analysis to prioritize GWAS results: principles, methods and perspectives
Jia, P., & Zhao, Z. (2013) · Human Genetics · doi:10.1007/s00439-013-1377-1 · Cited by 100 · see citing works
“With the growing awareness of NAA's advantages, many original GWA or genetic studies have included such analyses to help interpret their association results (Arning et al. 2012; Neale et al. 2012; Xu et al. 2012).”
BackgroundPOGZ truncating alleles cause syndromic intellectual disability
White, J. J., Beck, C. R., Harel, T., Posey, J. E., Jhangiani, S. N., Tang, S., Hagman, K. D. F., Powis, Z., Mendelsohn, N. J., Baker, J. A., et al. (2016) · Genome Medicine · doi:10.1186/s13073-015-0253-0 · Cited by 99 · see citing works
“NDDs [5, 7, 8].”
Prenatal Expression Patterns of Genes Associated With Neuropsychiatric Disorders
Birnbaum, R., Jaffe, A. E., Hyde, T. M., Kleinman, J. E., & Weinberger, D. R. (2014) · American Journal of Psychiatry · doi:10.1176/appi.ajp.2014.13111452 · Cited by 97 · see citing works
Lal, D., Ruppert, A., Trucks, H., Schulz, H., de Kovel, C. G. F., Trenité, D. G. A. K.-N., Sonsma, A. C. M., Koeleman, B. P. C., Lindhout, D., Weber, Y. G., et al. (2015) · PLoS Genetics · doi:10.1371/journal.pgen.1005226 · Cited by 97 · see citing works
“3 [32 – 34], CADM2 /3p12.”
The genomics of schizophrenia: update and implications
Giusti‐Rodríguez, P., & Sullivan, P. F. (2013) · Journal of Clinical Investigation · doi:10.1172/jci66031 · Cited by 95 · see citing works
“Xu et al. carried out exome sequencing of 231 trios with no family history (i.e., “sporadic” cases) and 34 unaffected trios (58, 59).”
Stuck in traffic: an emerging theme in diseases of the nervous system
Neefjes, J., & van der Kant, R. (2014) · Trends in Neurosciences · doi:10.1016/j.tins.2013.11.006 · Cited by 95 · see citing works
Questions about DISC1 as a genetic risk factor for schizophrenia
Sullivan, P. F. (2013) · Molecular Psychiatry · doi:10.1038/mp.2012.182 · Cited by 93 · see citing works
Identification and functional characterization of rare SHANK2 variants in schizophrenia
Peykov, S. Z., Berkel, S., Schoen, M., Weiss, K., Degenhardt, F., Strohmaier, J., Weiss, B., Proepper, C., Schratt, G. M., Nöthen, M. M., et al. (2015) · Molecular Psychiatry · doi:10.1038/mp.2014.172 · Cited by 94 · see citing works
Fernández, E., Collins, M. O., Frank, R., Zhu, F., Kopanitsa, M. V., Nithianantharajah, J., Lemprière, S. A., Fricker, D. G., Elsegood, K. A., McLaughlin, C. L., et al. (2017) · Cell Reports · doi:10.1016/j.celrep.2017.09.045 · Cited by 88 · see citing works
“…epilepsy (EuroEPINOMICS-RES Consortium et al., 2014), ID (de Ligt et al., 2012; Hamdan et al., 2014; Rauch et al., 2012), and schizophrenia (Fromer et al., 2014; Girard et al., 2011; Gulsuner et al., 2013; Kirov et al., 2012; McCarthy et al., 2014; Xu et al., 2012 do not contain NMDA receptors.”
BackgroundExome Sequencing in 53 Sporadic Cases of Schizophrenia Identifies 18 Putative Candidate Genes
Guipponi, M., Santoni, F. A., Setola, V., Gehrig, C., Rothärmel, M., Cuenca, M., Guillin, O., Dikeos, D. G., Georgantopoulos, G., Papadimitriou, G. N., et al. (2014) · PLoS ONE · doi:10.1371/journal.pone.0112745 · Cited by 89 · see citing works
“conserved splice site (¡2) and frameshift Indels) [20, 21, 22, 23] and this study (Table S5) revealed a marginally significant enrichment for genes involved in cellular component morphogenesis (GOTERM_BP_FAT Gene Ontology, Benjamini p-value 53.”
BackgroundResultInfluentialPagel, K. A., Pejaver, V. R., Lin, G. N., Nam, H.-J., Mort, M. E., Cooper, D. N., Sebat, J. L., Iakoucheva, L. M., Mooney, S. D., & Predrag Radivojac, A. (2017) · Bioinformatics · doi:10.1093/bioinformatics/btx272 · Cited by 88 · see citing works
“…and a control set of 172 de novo LOF mutations from healthy siblings (Gulsuner et al. , 2013; Iossifov et al. , 2012, 2014; O’Roak et al. , 2011, 2012b; Rauch et al. , 2012; Sanders et al. , 2012; Xu et al. , 2011, 2012; S.Jonathan et al., unpub-lished data, doi: https://doi.org/10.1101/102327).”
InfluentialPaternal-age-related de novo mutations and risk for five disorders
Taylor, J. L., Debost, J.-C., Morton, S. U., Wigdor, E. M., Heyne, H., Lal, D., Howrigan, D. P., Bloemendal, A., Larsen, J. T., Kosmicki, J. A., et al. (2019) · Nature Communications · doi:10.1038/s41467-019-11039-6 · Cited by 91 · see citing works
Coding mutations in NUS1 contribute to Parkinson’s disease
Guo, J., Zhang, L., Li, K., Mei, J., Xue, J., Chen, J., Tang, X., Shen, L. H., Jiang, H. F., Chen, C., et al. (2018) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1809969115 · Cited by 90 · see citing works
“A collection of 22,866 individual inherited mutations, which were thought to be rare neutral mutations (21), was used for comparison with de novo mutations in probands and siblings as benchmark to evaluate their probability of being genetic risk factors for disease.”
BackgroundSusser, E., & Clair, D. S. (2013) · Social Science & Medicine · doi:10.1016/j.socscimed.2013.02.049 · Cited by 89 · see citing works
“Moreover, converging lines of evidence suggest substantial overlap in the causes of autism and schizophrenia (Karayiorgou, Flint, Gogos, & Malenka, 2012; State & Sestan, 2012; Sullivan et al., 2012; Xu et al., 2012).”
BackgroundProgress in the Genetics of Polygenic Brain Disorders: Significant New Challenges for Neurobiology
McCarroll, S. A., & Hyman, S. E. (2013) · Neuron · doi:10.1016/j.neuron.2013.10.046 · Cited by 87 · see citing works
Ionita‐Laza, I., Lee, S., Makarov, V., Buxbaum, J. D., & Lin, X. (2013) · European Journal of Human Genetics · doi:10.1038/ejhg.2012.308 · Cited by 87 · see citing works
Self-citationSchizophrenia genetics: emerging themes for a complex disorder
Kavanagh, D. H., Tansey, K. E., O’Donovan, M. C., & Owen, M. J. (2014) · Molecular Psychiatry · doi:10.1038/mp.2014.148 · Cited by 86 · see citing works
Delahaye‐Duriez, A., Srivastava, P. K., Shkura, K., Langley, S. R., Laaniste, L., Moreno‐Moral, A., Danis, B., Mazzuferi, M., Foerch, P., Gazina, E. V., et al. (2016) · Genome biology · doi:10.1186/s13059-016-1097-7 · Cited by 87 · see citing works
“For controls, we used 1891 non-neurological control samples from seven published studies [61, 63, 90, 94, 96, 101, 102].”
Method
- Authors
- Xu, B., Ionita-Laza, I., Roos, J. L., Boone, B., Woodrick, S., Sun, Y., Levy, S., Gogos, J. A., & Karayiorgou, M.
- Affiliations
- Columbia University (US)
- HudsonAlpha Institute for Biotechnology (US)
- Corresponding author
- Gogos, Joseph A
- Karayiorgou, Maria
- Venue
- Nature Genetics
- Published
- 2012-10-03
- Volume
- 44
- Issue
- 12
- Pages
- 1365-1369
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- PMC
- PMC3556813
- OpenAlex
- W2166328287
- Cited by
- 442
- References
- 37
- Citations by year
- 2026: 6 · 2025: 10 · 2024: 7 · 2023: 18 · 2022: 12 · 2021: 25 · 2020: 28 · 2019: 35 · 2018: 28 · 2017: 45 · 2016: 55 · 2015: 48 · 2014: 65 · 2013: 56 · 2012: 3
- FWCI
- 39.29
- Type
- journal article
- Language
- en
- Open access
- green
- europepmc.org
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Alliance for Research on Schizophrenia and Depression
- National Institutes of Health
- National Institute of Mental Health (MH061399, R01MH061399, R01MH077235, MH077235, R01MH095797)
- Topics
- Health Sciences › Medicine › Psychiatry and Mental health › Schizophrenia research and treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- schizophrenia, de novo mutations, non-synonymous mutations, LAMA2, dihydropyrimidine dehydrogenase, TRRAP, VPS39, fetal brain development
- MeSH terms
- Autophagy-Related Proteins, Adult, Base Sequence, Brain, Female, Humans, Laminin, Male, Molecular Sequence Data, Mutation, Neurons, Nuclear Proteins, Schizophrenia, South Africa, United States, Cohort Studies, Sequence Analysis, DNA, Gene Expression Regulation, Developmental, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Vesicular Transport Proteins, Dihydrouracil Dehydrogenase (NADP), Intracellular Signaling Peptides and Proteins, Adaptor Proteins, Signal Transducing, Young Adult, Exome
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
