Diverse types of genetic variation converge on functional gene networks involved in schizophrenia
Open accessAbstract
Despite the successful identification of several relevant genomic loci, the underlying molecular mechanisms of schizophrenia remain largely unclear. We developed a computational approach (NETBAG+) that allows an integrated analysis of diverse disease-related genetic data using a unified statistical framework. The application of this approach to schizophrenia-associated genetic variations, obtained using unbiased whole-genome methods, allowed us to identify several cohesive gene networks related to axon guidance, neuronal cell mobility, synaptic function and chromosomal remodeling. The genes forming the networks are highly expressed in the brain, with higher brain expression during prenatal development. The identified networks are functionally related to genes previously implicated in schizophrenia, autism and intellectual disability. A comparative analysis of copy number variants associated with autism and schizophrenia suggests that although the molecular networks implicated in these distinct disorders may be related, the mutations associated with each disease are likely to lead, at least on average, to different functional consequences.
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?
NETBAG+ applied to large sets of SNVs and CNVs in schizophrenia and ASD confirmed convergence of disease genes onto shared pathways.
“An extension of the NETBAG approach (dubbed NETBAG+) has also been applied to simultaneously evaluate large sets of single-nucleotide variants (SNVs) and CNVs in schizophrenia131 and ASD132, confirming the convergence of disease genes onto shared pathways.”
From Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders (2015) · cites this paper as [131]
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
Common polygenic variation contributes to risk of schizophrenia and bipolar disorder
The International Schizophrenia Consortium (2009) · Nature · doi:10.1038/nature08185 · Cited by 4,821 · see citing works
Goh, K.-I., Cusick, M. E., Valle, D., Childs, B., Vidal, M., & Barabási, A.-L. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0701361104 · Cited by 3,242 · 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
Functional impact of global rare copy number variation in autism spectrum disorders
Pinto, D., Pagnamenta, A. T., Klei, L., Anney, R., Merico, D., Regan, R., Conroy, J., Magalhaes, T. R., Correia, C., Abrahams, B. S., et al. (2010) · Nature · doi:10.1038/nature09146 · Cited by 2,013 · 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
Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia
Walsh, T., McClellan, J. M., McCarthy, S. E., Addington, A. M., Pierce, S. B., Cooper, G. M., Nord, A. S., Kusenda, M., Malhotra, D., Bhandari, A., et al. (2008) · Science · doi:10.1126/science.1155174 · Cited by 1,800 · see citing works
Large recurrent microdeletions associated with schizophrenia.
GROUP, Stefansson, H., Rujescu, D., Cichon, S., Pietiläinen, O. P. H., Ingason, A., Steinberg, S., Fossdal, R., Sigurdsson, E., Sigmundsson, T., et al. (2008) · Nature · doi:10.1038/nature07229 · Cited by 1,745 · 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
Decreased Dendritic Spine Density on Prefrontal Cortical Pyramidal Neurons in Schizophrenia
Glantz, L. A., & Lewis, D. A. (2000) · Archives of General Psychiatry · doi:10.1001/archpsyc.57.1.65 · Cited by 1,636 · see citing works
Shank3 mutant mice display autistic-like behaviours and striatal dysfunction
Peça, J., Feliciano, C., Ting, J. T., Wang, W., Wells, M. F., Venkatraman, T. N., Lascola, C. D., Fu, Z., & Feng, G. (2011) · Nature · doi:10.1038/nature09965 · Cited by 1,570 · see citing works
Dendritic spine pathology in neuropsychiatric disorders
Penzes, P., Cahill, M. E., Jones, K. A., VanLeeuwen, J.-E., & Woolfrey, K. M. (2011) · Nature Neuroscience · doi:10.1038/nn.2741 · Cited by 1,523 · see citing works
Modelling schizophrenia using human induced pluripotent stem cells
Brennand, K. J., Simone, A., Jou, J., Gelboin-Burkhart, C., Tran, N., Sangar, S., Li, Y., Mu, Y., Chen, G., Yu, D., et al. (2011) · Nature · doi:10.1038/nature09915 · Cited by 1,375 · see citing works
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
O'Roak, B. J., Deriziotis, P., Lee, C., Vives, L., Schwartz, J. J., Girirajan, S., Karakoc, E., MacKenzie, A. P., Ng, S. B., Baker, C., et al. (2011) · Nature Genetics · doi:10.1038/ng.835 · Cited by 1,203 · see citing works
Common variants on chromosome 6p22.1 are associated with schizophrenia
Shi, J., Levinson, D. F., Duan, J., Sanders, A. R., Zheng, Y., Pe’er, I., Dudbridge, F., Holmans, P., Whittemore, A. S., Mowry, B. J., et al. (2009) · Nature · doi:10.1038/nature08192 · Cited by 1,154 · see citing works
Identification of loci associated with schizophrenia by genome-wide association and follow-up
Molecular Genetics of Schizophrenia Collaboration, O'Donovan, M. C., Craddock, N., Norton, N., Williams, H., Peirce, T., Moskvina, V., Nikolov, I., Hamshere, M., Carroll, L., et al. (2008) · Nature Genetics · doi:10.1038/ng.201 · Cited by 1,070 · see citing works
Allen, N. C., Bagade, S., McQueen, M. B., Ioannidis, J. P. A., Kavvoura, F. K., Khoury, M. J., Tanzi, R. E., & Bertram, L. (2008) · Nature Genetics · doi:10.1038/ng.171 · Cited by 1,054 · see citing works
CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics
Malhotra, D., & Sebat, J. (2012) · Cell · doi:10.1016/j.cell.2012.02.039 · Cited by 854 · 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-citationDendritic Spine Pathology: Cause or Consequence of Neurological Disorders?
Fiala, J. C., Spacek, J., & Harris, K. M. (2002) · Brain Research Reviews · doi:10.1016/s0165-0173(02)00158-3 · Cited by 811 · see citing works
Increased dendritic spine densities on cortical projection neurons in autism spectrum disorders
Hutsler, J. J., & Zhang, H. (2010) · Brain Research · doi:10.1016/j.brainres.2009.09.120 · Cited by 765 · see citing works
Rare de novo and transmitted copy-number variation in autistic spectrum disorders
Levy, D., Ronemus, M., Yamrom, B., Lee, Y.-H., Leotta, A., Kendall, J., Marks, S., Lakshmi, B., Pai, D., Ye, K., et al. (2011) · Neuron · doi:10.1016/j.neuron.2011.05.015 · Cited by 712 · see citing works
Gilman, S. R., Iossifov, I., Levy, D., Ronemus, M., Wigler, M., & Vitkup, D. (2011) · Neuron · doi:10.1016/j.neuron.2011.05.021 · Cited by 701 · see citing works
Self-citationDe novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia
Xu, B., Ionita-Laza, I., Roos, J. L., Boone, B., Woodrick, S., Sun, Y., Levy, S., Gogos, J. A., & Karayiorgou, M. (2012) · Nature Genetics · doi:10.1038/ng.2446 · Cited by 442 · see citing works
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
Guilmatre, A., Dubourg, C., Mosca, A.-L., Legallic, S., Goldenberg, A., Drouin-Garraud, V., Layet, V., Rosier, A., Briault, S., Bonnet-Brilhault, F., et al. (2009) · Archives of General Psychiatry · doi:10.1001/archgenpsychiatry.2009.80 · Cited by 429 · see citing works
Schizophrenia, “Just the Facts”: What we know in 2008
Tandon, R., Keshavan, M. S., & Nasrallah, H. A. (2008) · Schizophrenia Research · doi:10.1016/j.schres.2008.01.022 · Cited by 412 · see citing works
Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia
Kirov, G., Gumus, D., Chen, W., Norton, N., Georgieva, L., Sari, M., O'Donovan, M. C., Erdogan, F., Owen, M. J., Ropers, H.-H., et al. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm323 · Cited by 377 · see citing works
Genomewide association for schizophrenia in the CATIE study: results of stage 1
Sullivan, P. F., Lin, D. Y., Tzeng, J., van den Oord, E. J. C. G., Perkins, D. O., Stroup, T. S., Wagner, M. J., Lee, S., Wright, F. A., Zou, F., et al. (2008) · Molecular Psychiatry · doi:10.1038/mp.2008.25 · Cited by 354 · 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-citationNetwork properties of genes harboring inherited disease mutations
Feldman, I., Rzhetsky, A., & Vitkup, D. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0701722105 · Cited by 295 · see citing works
Self-citationYue, W.-H., Wang, H.-F., Sun, L.-D., Tang, F.-L., Liu, Z.-H., Zhang, H.-X., Li, W.-Q., Zhang, Y.-L., Zhang, Y., Ma, C.-C., et al. (2011) · Nature Genetics · doi:10.1038/ng.979 · Cited by 289 · see citing works
Converging evidence for a pseudoautosomal cytokine receptor gene locus in schizophrenia
Lencz, T., Morgan, T., Athanasiou, M., Dain, B., Reed, C. R., Kane, J. M., Kucherlapati, R., & Malhotra, A. K. (2002) · Molecular Psychiatry · doi:10.1038/sj.mp.4001983 · Cited by 278 · see citing works
Next generation software for functional trend analysis
Berriz, G. F., Beaver, J. E., Cenik, C., Tasan, M., & Roth, F. P. (2009) · Bioinformatics · doi:10.1093/bioinformatics/btp498 · Cited by 277 · see citing works
Microdeletions of 3q29 confer high risk for schizophrenia
Mulle, J. G., Dodd, A. F., McGrath, J. A., Wolyniec, P. S., Mitchell, A. A., Shetty, A. C., Sobreira, N. L., Valle, D., Rudd, M. K., Satten, G., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.07.013 · Cited by 223 · see citing works
A genome-wide association study in 574 schizophrenia trios using DNA pooling
Kirov, G., Zaharieva, I. T., Georgieva, L., Moskvina, V., Nikolov, I., Cichon, S., Hillmer, A. M., Toncheva, D. I., Owen, M. J., & O’Donovan, M. C. (2008) · Molecular Psychiatry · doi:10.1038/mp.2008.33 · Cited by 161 · see citing works
Candidate genes for schizophrenia: A survey of association studies and gene ranking
Sun, J., Kuo, P., Riley, B. P., Kendler, K. S., & Zhao, Z. (2008) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30743 · Cited by 110 · see citing works
SZGR: a comprehensive schizophrenia gene resource
Jia, P., Sun, J., Guo, A., & Zhao, Z. (2010) · Molecular Psychiatry · doi:10.1038/mp.2009.93 · Cited by 87 · see citing works
Predicting genes for orphan metabolic activities using phylogenetic profiles
Chen, L., & Vitkup, D. (2006) · Genome biology · doi:10.1186/gb-2006-7-2-r17 · Cited by 86 · see citing works
Self-citationClinically detectable copy number variations in a Canadian catchment population of schizophrenia
Bassett, A. S., Costain, G., Fung, W. L. A., Russell, K. J., Pierce, L., Kapadia, R. K., Carter, R. F., Chow, E. W. C., & Forsythe, P. (2010) · Journal of Psychiatric Research · doi:10.1016/j.jpsychires.2010.06.013 · Cited by 72 · see citing works
Iossifov, I. H., Zheng, T., Baron, M., Gilliam, T. C., & Rzhetsky, A. (2008) · Genome Research · doi:10.1101/gr.075622.107 · Cited by 70 · 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-citationMolecules, Signaling, and Schizophrenia
Kvajo, M., McKellar, H., & Gogos, J. A. (2010) · Current topics in behavioral neurosciences · doi:10.1007/7854_2010_41 · Cited by 48 · see citing works
Self-citationSchizophrenia Genetics: Putting All the Pieces Together
Girard, S., Dion, P. A., & Rouleau, G. A. (2012) · Current Neurology and Neuroscience Reports · doi:10.1007/s11910-012-0266-7 · Cited by 38 · see citing works
Progress in defining the biological causes of schizophrenia
Pickard, B. S. (2011) · Expert Reviews in Molecular Medicine · doi:10.1017/s1462399411001955 · Cited by 38 · see citing works
Irwin (2001) · doi:10.1002/1096-8628(20010115)98:2
Flagged first, then by citations
1 of the 50 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
Gulsuner, 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).”
InfluentialGenetic 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
Defining the genetic, genomic, cellular, and diagnostic architectures of psychiatric disorders
Sullivan, P. F., & Geschwind, D. H. (2019) · Cell · doi:10.1016/j.cell.2019.01.015 · Cited by 452 · see citing works
“These efforts point at similar pathways and/or convergence of risk loci on similar biological processes (Corominas et al., 2014; Gilman et al., 2012; Li et al., 2014).”
BackgroundDe novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia
Xu, B., Ionita-Laza, I., Roos, J. L., Boone, B., Woodrick, S., Sun, Y., Levy, S., Gogos, J. A., & Karayiorgou, M. (2012) · Nature Genetics · doi:10.1038/ng.2446 · Cited by 442 · see citing works
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
“An extension of the NETBAG approach (dubbed NETBAG+) has also been applied to simultaneously evaluate large sets of single-nucleotide variants (SNVs) and CNVs in schizophrenia 131 and ASD 132 , confirming the convergence of disease genes onto shared pathways.”
MethodUnderstanding axon guidance: are we nearly there yet?
Stoeckli, E. T. (2018) · Development · doi:10.1242/dev.151415 · Cited by 302 · see citing works
“Genome-wide association studies of familial and spontaneous forms of developmental and degenerative disorders have identified genes involved in the formation of neural circuits (Antonell et al., 2013; Bossers et al., 2009; Gilman et al., 2012; Iossifov et al., 2014; Pinto et al., 2014).”
BackgroundAn Evolutionary Life History Framework for Psychopathology
Giudice, M. D. (2014) · Psychological Inquiry · doi:10.1080/1047840x.2014.884918 · Cited by 316 · see citing works
“Besides showing different sociocognitive profiles, ASDs and SSDs are characterized by opposite patterns of brain and body growth (Crespi & Badcock, 2008) and by diametrical patterns of genetic effects—for example upversus down-regulation of molecular pathways and larger versus smaller numbers of gene copies (Crespi, S…”
BackgroundThe discovery of integrated gene networks for autism and related disorders
Hormozdiari, F., Penn, O., Borenstein, E., & Eichler, E. E. (2015) · Genome Research · doi:10.1101/gr.178855.114 · Cited by 249 · see citing works
“2011) and a combination of CNVs and SNVs in schizophrenia (Gilman et al. 2012).”
BackgroundMethodGenetic Control of Expression and Splicing in Developing Human Brain Informs Disease Mechanisms
Walker, R. L., Ramaswami, G., Hartl, C., Mancuso, N., Gandal, M. J., de la Torre-Ubieta, L., Paşaniuc, B., Stein, J. L., & Geschwind, D. H. (2019) · Cell · doi:10.1016/j.cell.2019.09.021 · Cited by 259 · see citing works
Meda, S. A., Ruaño, G., Windemuth, A., O’Neil, K., Berwise, C., Dunn, S. M., Boccaccio, L. E., Narayanan, B., Kocherla, M., Sprooten, E., et al. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1313093111 · Cited by 242 · see citing works
“Taken together, our results are highly consistent with processes identified in recent studies using bioinformatics-based network approaches studying gene–disease relationships directly (5, 6).”
BackgroundResultInfluentialThe road to precision psychiatry: translating genetics into disease mechanisms
Gandal, M. J., Leppa, V., Won, H., Parikshak, N. N., & Geschwind, D. H. (2016) · Nature Neuroscience · doi:10.1038/nn.4409 · Cited by 223 · see citing works
Brain plasticity-based therapeutics
Merzenich, M. M., Vleet, T. V., & Nahum, M. (2014) · Frontiers in Human Neuroscience · doi:10.3389/fnhum.2014.00385 · Cited by 242 · see citing works
“…consider two simple examples: First, scientists have studied alterations in many disease states by documenting which genes are up-regulated—and which are down-regulated—in specific diseases (Gilman et al., 2012; Calciano et al., 2013; Fass et al., 2014; among several hundred citable examples).”
BackgroundKushima, I., Aleksic, B., Nakatochi, M., Shimamura, T., Okada, T., Uno, Y., Morikawa, M., Ishizuka, K., Shiino, T., Kimura, H., et al. (2018) · Cell Reports · doi:10.1016/j.celrep.2018.08.022 · Cited by 251 · 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
Genotype to phenotype relationships in autism spectrum disorders
Chang, J., Gilman, S. R., Chiang, A. H., Sanders, S. J., & Vitkup, D. (2015) · Nature Neuroscience · doi:10.1038/nn.3907 · Cited by 197 · see citing works
“…have previously demonstrated, ASD-associated mutations often perturb multiple signaling pathways that converge on the regulation of actin cytoskeleton and other structural processes that are required for neuron migration, cell-cell adhesion, and the development of neuronal projections 12, 21, 22 .”
InfluentialSelf-citationLoss-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
Self-citationHigh-Throughput Methods for Combinatorial Drug Discovery
Sun, X., Vilar, S., & Tatonetti, N. P. (2013) · Science Translational Medicine · doi:10.1126/scitranslmed.3006667 · Cited by 200 · see citing works
“Such approaches have already led to advances in our understanding of some notoriously complex diseases, including autism ( 16 ), schizophrenia ( 17 ), type 2 diabetes ( 18 ), and cardiovascular disease ( 19 ), as well as the identification of new uses for old drugs ( 20 , 21 ).”
BackgroundRecent 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
“Exome sequencing (in which the expressed regions of each gene are sequenced in their entirety) is revealing a spectrum of schizophrenia-associated genetic variants (Gilman et al., 2012; Gulsuner et al., 2013), as there is with other psychiatric disorders (Visscher et al., 2012).”
BackgroundRegulation of histone H3K4 methylation in brain development and disease
Shen, E., Shulha, H. P., Weng, Z., & Akbarian, S. (2014) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.2013.0514 · Cited by 164 · 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-citationTherapeutic Potential of α7 Nicotinic Acetylcholine Receptors
Bertrand, D., Lee, C., Flood, D. G., Marger, F., & Donnelly‐Roberts, D. L. (2015) · Pharmacological Reviews · doi:10.1124/pr.113.008581 · Cited by 139 · see citing works
“…a7 nAChRs and brain development is rather limited, developments in imaging technologies, combined with genetic associations and clinical phenotypes are paving the way to future research, as illustrated by the computer analysis of multiple genes contributing to schizophrenia (Gilman et al., 2012).”
BackgroundIncreased body mass index is associated with specific regional alterations in brain structure
Medic, N., Ziauddeen, H., Ersche, K. D., Farooqi, I. S., Bullmore, E. T., Nathan, P. J., Ronan, L., & Fletcher, P. C. (2016) · International Journal of Obesity · doi:10.1038/ijo.2016.42 · Cited by 135 · see citing works
“Mutations affecting synaptic morphology and plasticity have been implicated in intellectual disability, schizophrenia and autism spectrum disorders (23,24).”
Genetic Associations between Voltage-Gated Calcium Channels and Psychiatric Disorders
Andrade, A., Brennecke, A., Mallat, S., Brown, J., Gomez-Rivadeneira, J., Czepiel, N., & Londrigan, L. (2019) · International Journal of Molecular Sciences · doi:10.3390/ijms20143537 · Cited by 127 · see citing works
Molecular genetic studies of ADHD and its candidate genes: A review
Li, Z., Chang, S., Zhang, L., Gao, L., & Wang, J. (2014) · Psychiatry Research · doi:10.1016/j.psychres.2014.05.005 · Cited by 123 · see citing works
“Lastly, the enrichment of various types of genetic data calls for cross validation, convergent and integration analyses as in other psychiatric disorders (Ayalew et al., 2012; Gilman et al., 2012).”
BackgroundProtein–protein interactions and genetic diseases: The interactome
Lage, K. (2014) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2014.05.028 · 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
“Their contribution remains to be determined, but it is noteworthy that we have recently described an overrepresentation of developmentally regulated genes involved in chromatin remodeling among targets of de novo mutations in SCZ (Gilman et al., 2012; Xu et al., 2012a).”
BackgroundSelf-citationFunctional genomics reveal gene regulatory mechanisms underlying schizophrenia risk
Huo, Y., Li, S., Liu, J., Li, X., & Luo, X. (2019) · Nature Communications · doi:10.1038/s41467-019-08666-4 · Cited by 116 · see citing works
SZDB: A Database for Schizophrenia Genetic Research
Wu, Y., Yao, Y., & Luo, X. (2016) · Schizophrenia Bulletin · doi:10.1093/schbul/sbw102 · Cited by 113 · see citing works
The 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
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
Cuthbert, B. N. (2014) · Psychophysiology · doi:10.1111/psyp.12342 · Cited by 104 · see citing works
Epigenetic mechanisms in schizophrenia
Shorter, K. R., & Miller, B. H. (2015) · Progress in Biophysics and Molecular Biology · doi:10.1016/j.pbiomolbio.2015.04.008 · Cited by 103 · see citing works
“Most recently, copy number variant analysis and exome sequencing of patients with schizophrenia show a significant over-representation of mutations in brain development-related genes, particularly genes associated with the NMDA signaling pathway (Gilman et al., 2012; Hall et al., 2014).”
BackgroundNetwork-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
“Gilman et al. (2012) designed an approach named NETBAG for NAA of rare de novo variants (Gilman et al. 2011), and they later successfully extended their approach to diverse types of genetic variants.”
MethodGerring, Z. F., Gamazon, E. R., & Derks, E. M. (2019) · PLoS Genetics · doi:10.1371/journal.pgen.1008245 · Cited by 92 · see citing works
“schizophrenia [19], and psychosis [20].”
Leiserson, M. D. M., Eldridge, J. V., Ramachandran, S., & Raphael, B. J. (2013) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2013.09.003 · Cited by 93 · see citing works
“NETBAG + [40 ] BIND + BioGRID + DIP + HPRD + InNetDB + IntAct + BiGG + MINT + MIPS De novo CNVs + SNVs + GWAS-implicated loci Exhaustive search of 2-step networks NIMMI [44] BioGRID GWAS SNPs”
BackgroundMethodInfluentialSchizophrenia as a Disorder of Molecular Pathways
Horváth, S., & Mirnics, K. (2014) · Biological Psychiatry · doi:10.1016/j.biopsych.2014.01.001 · Cited by 90 · see citing works
“are a cumulative readout of different genetic susceptibilities and environmental insults, which converge onto common molecular (and ultimately functional cellular) pathways (5,27).”
BackgroundEpigenetic mechanisms in schizophrenia
Akbarian, S. (2014) · Dialogues in Clinical Neuroscience · doi:10.31887/dcns.2014.16.3/sakbarian · Cited by 89 · see citing works
First glimpses of the neurobiology of autism spectrum disorder
Sanders, S. J. (2015) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2015.10.002 · Cited by 84 · see citing works
Layer specific and general requirements for ERK/MAPK signaling in the developing neocortex
Xing, L., Larsen, R. S., Bjorklund, G. R., Li, X., Wu, Y., Philpot, B. D., Snider, W. D., & Newbern, J. M. (2016) · eLife · doi:10.7554/elife.11123 · Cited by 80 · see citing works
“2 mutated in ~1% of cases of autism (Eichler and Zimmerman, 2008; Gilman et al., 2012; Gilman et al., 2011; Kumar et al., 2008; Pinto et al., 2010; Pucilowska et al., 2015; Weiss et al., 2008).”
BackgroundWang, W., Corominas, R., & Lin, G. N. (2019) · Frontiers in Genetics · doi:10.3389/fgene.2019.00258 · Cited by 70 · see citing works
“To this end, NETBAG+ (Gilman et al., 2012), has been developed to consider multiple lines of mutational data from diseases, such as de novo SNVs, de novo CNVs, and SNP data from GWAS studies, and performed the PPI network-based integrative analysis to investigate the convergence of heterogeneous neuropsychiatric genet…”
BackgroundMethodDesrivières, S., Lourdusamy, A., Tao, C., Toro, R., Jia, T., Loth, E., Medina, L. M., Kepa, A., Fernandes, A. R., Ruggeri, B., et al. (2014) · Molecular Psychiatry · doi:10.1038/mp.2013.197 · Cited by 69 · see citing works
“…brain tissue of patients with various types of intellectual disabilities 56, 57 and mutations are found in many different types of cognitive disorders, including intellectual disability (ID), schizophrenia and autism spectrum disorders (ASDs) which affect synaptic morphology and plasticity 58-60 .”
Alsabban, A. H., Morikawa, M., Tanaka, Y., Takei, Y., & Hirokawa, N. (2019) · The EMBO Journal · doi:10.15252/embj.2018101090 · Cited by 67 · see citing works
“Recently, a link between Wnt signaling components and SCZ has been revealed (Gilman et al , 2012; Inestrosa et al , 2012; Singh, 2013; Byars et al , 2014; Mohn et al , 2014).”
The cAMP responsive element-binding (CREB)-1 gene increases risk of major psychiatric disorders
Xiao, X., Zhang, C., Grigoroiu‐Serbânescu, M., Wang, L., Li, L., Zhou, D., Yuan, T.-F., Wang, C., Chang, H., Wu, Y. F., et al. (2017) · Molecular Psychiatry · doi:10.1038/mp.2017.243 · Cited by 66 · see citing works
Krämer, P., & Bressan, P. (2015) · Perspectives on Psychological Science · doi:10.1177/1745691615583131 · Cited by 66 · see citing works
De novo Mutations (DNMs) in Autism Spectrum Disorder (ASD): Pathway and Network Analysis
Alonso-González, A., Rodriguez‐Fontenla, C., & Carracedo, Á. (2018) · Frontiers in Genetics · doi:10.3389/fgene.2018.00406 · Cited by 65 · see citing works
Zhao, Y.-H., & Castellanos, F. (2016) · Journal of Child Psychology and Psychiatry and Allied Disciplines · doi:10.1111/jcpp.12503 · Cited by 73 · see citing works
“…and thus systems or network approaches have allowed the construction of several genetic regulatory networks involved in various psychiatric disorders such as SZ and ASD and in the connections between disorders (Gilman et al., 2012, Alawieh et al., 2012, Gaiteri et al., 2014, Chang et al., 2015).”
BackgroundMethodCharacterization of intellectual disability and autism comorbidity through gene panel sequencing
Aspromonte, M. C., Bellini, M., Gasparini, A., Carraro, M., Bettella, E., Polli, R., Cesca, F., Bigoni, S., Boni, S., Carlet, O., et al. (2019) · Human Mutation · doi:10.1002/humu.23822 · Cited by 62 · see citing works
“Alterations of the same classes of protein functions and biological processes involved in neuronal development, such as the mammalian target of rapamycin (mTOR) pathways, GABA receptor function or glutamate NMDA receptor function, have been also found implicated in intellectual disability, epilepsy, and schizophrenia…”
BackgroundGiudice, M. D., Klimczuk, A. C. E., Traficonte, D. M., & Dario Maestripieri, A. (2014) · Evolution and Human Behavior · doi:10.1016/j.evolhumbehav.2014.05.007 · Cited by 63 · see citing works
“…ASDs and SSDs are associated with opposite patterns of copy number variation (more versus fewer copies of a genetic region), opposite methylation patterns (hyper-versus hypo-methylation), and so forth (see Crespi & Badcock, 2008; Crespi et al., 2010; Gilman et al., 2012; see also Kalkman, 2012).”
BackgroundIdentifying phenotypic signatures of neuropsychiatric disorders from electronic medical records
Lyalina, S., Percha, B., LePendu, P., Iyer, S. V., Altman, R. B., & Shah, N. H. (2013) · Journal of the American Medical Informatics Association · doi:10.1136/amiajnl-2013-001933 · Cited by 61 · see citing works
Shohat, S., Ben‐David, E., & Shifman, S. (2017) · Cell Reports · doi:10.1016/j.celrep.2017.02.007 · Cited by 58 · see citing works
Integrin adhesion in brain assembly: From molecular structure to neuropsychiatric disorders
Jaudon, F., Thalhammer, A., & Cingolani, L. A. (2020) · European Journal of Neuroscience · doi:10.1111/ejn.14859 · Cited by 59 · see citing works
“…axon guidance, cell adhesion and actin cytoskeleton dynamics, have been implicated in schizophrenia (SCZ; Aberg et al., 2013; Fromer et al., 2014; Gilman et al., 2012; Kahler et al., 2008; Lips et al., 2012; O'Dushlaine et al., 2011; Perkins et al., 2007; Zhao et al., 2015).”
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
“previous studies reporting genes with higher expression in prenatal developmental stages (10,11,24).”
BackgroundResultInfluentialSuliman-Lavie, R., Title, B., Cohen, Y., Hamada, N., Tal, M., Tal, N., Monderer‐Rothkoff, G., Gudmundsdottir, B., Gudmundsson, K. O., Keller, J. R., et al. (2020) · Nature Communications · doi:10.1038/s41467-020-19577-0 · Cited by 58 · see citing works
Copy‐number variation in the pathogenesis of autism spectrum disorder
Shishido, E., Aleksić, B., & Ozaki, N. (2013) · Psychiatry and Clinical Neurosciences · doi:10.1111/pcn.12128 · Cited by 58 · see citing works
“used cluster analysis to analyze how genetic loci are interconnected in terms of their biological function.(49) This type of analysis integrates many sources of evidence for protein interactions (proteins are selected because they are disrupted by small CNV), using them as features for a classifier of interactions/non…”
MethodConvergent lines of evidence support CAMKK2 as a schizophrenia susceptibility gene
Luo, X.-J., Mei, L. I., Huang, L., Steinberg, S., Mattheisen, M., Liang, G., Donohoe, G. J., Shi, Y., Chen, C., Yue, W., et al. (2013) · Molecular Psychiatry · doi:10.1038/mp.2013.103 · Cited by 56 · see citing works
“59,84 To further test whether CAMKK 2 is involved in schizophrenia, we constructed a PPI network by using the top schizophrenia genes (Supplementary Table S2–S4).”
Transcriptome-wide association study identifies new susceptibility genes and pathways for depression
Li, X., Su, X., Liu, J., Li, H., Li, M., Li, W., & Luo, X. (2021) · Translational Psychiatry · doi:10.1038/s41398-021-01411-w · Cited by 55 · see citing works
“More detailed information about spatio-temporal expression pattern analysis can be found in the study of Gilman et al.(43).”
BackgroundAhmad, M., Shen, W., Li, W., Xue, Y., Zou, S., Xu, D., & Wang, W. (2016) · Nucleic Acids Research · doi:10.1093/nar/gkw1293 · Cited by 53 · see citing works
“Because autism and schizophrenia share common etiology factors (24,25), we investigated whether Top3 (cid”
Risk architecture of schizophrenia
Švrakić, D. M., Zorumski, C. F., Svrakic, N. M., Zwir, I. J. S., & Cloninger, C. R. (2013) · Current Opinion in Psychiatry · doi:10.1097/yco.0b013e32835d8329 · Cited by 51 · see citing works
“Fortunately, some acceptable approaches, for example, specific network inference tools for specific applications, are beginning to emerge [52,55].”
BackgroundResultThe Regulatory Machinery of Neurodegeneration in In Vitro Models of Amyotrophic Lateral Sclerosis
Ikiz, B., Alvarez, M. J., Ré, D. B., Verche, V. L., Politi, K. A., Lotti, F., Phani, S., Pradhan, R., Yu, C., Croft, G. F., et al. (2015) · Cell Reports · doi:10.1016/j.celrep.2015.06.019 · Cited by 49 · see citing works
“…analysis of a coexpression network using both gene expression and GWAS data was used to rank-order genes that may play a role in lateonset Alzheimer’s disease (Zhang et al., 2013) and to elucidate networks that may play roles in autism and schizophrenia (Chang et al., 2015; Gilman et al., 2012).”
Facial emotion recognition in paranoid schizophrenia and autism spectrum disorder
Sachse, M., Schlitt, S., Hainz, D., Ciaramidaro, A., Walter, H., Poustka, F., Bölte, S., & Freitag, C. M. (2014) · Schizophrenia Research · doi:10.1016/j.schres.2014.08.030 · Cited by 48 · see citing works
“Still, underlying genetic risk factors are partly shared (Gilman et al., 2012).”
BackgroundNarayanan, B., Soh, P., Calhoun, V. D., Ruaño, G., Kocherla, M., Windemuth, A., Clementz, B. A., Tamminga, C. A., Sweeney, J. A., Keshavan, M. S., et al. (2015) · Translational Psychiatry · doi:10.1038/tp.2015.76 · Cited by 43 · see citing works
“92,93 The current fi ndings are in agreement with prior pathway based studies that revealed similar mechanisms including axon guidance, 94 – 96 cell adhesion 97,98 and glutamate pathways 93 that were associated with psychosis.”
ResultChang, S., Fang, K., Zhang, K., & Wang, J. (2015) · PLoS ONE · doi:10.1371/journal.pone.0133404 · Cited by 41 · see citing works
“05 and with gene numbers less than 350 were retained as [41].”
BackgroundFish, K. N., Rocco, B. R., DeDionisio, A. M., Dienel, S. J., Sweet, R. A., & Lewis, D. A. (2021) · Biological Psychiatry · doi:10.1016/j.biopsych.2021.02.009 · Cited by 38 · see citing works
Chang, X., Lima, L. D. A., Liu, Y., Li, J., Li, Q. S., Abou‐Sleiman, P. M., & Hakonarson, H. H. (2018) · Frontiers in Genetics · doi:10.3389/fgene.2018.00434 · Cited by 38 · see citing works
Zebrafish models of epigenetic regulation of CNS functions
Lakstygal, A. M., de Abreu, M. S., & Kalueff, A. V. (2018) · Brain Research Bulletin · doi:10.1016/j.brainresbull.2018.08.022 · Cited by 37 · see citing works
Expression of Genes Involved in Axon Guidance: How Much Have We Learned?
Kim, S. W., & Kim, K. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21103566 · Cited by 35 · see citing works
Knowles, E. E. M., Carless, M. A., Almeida, M., Curran, J. E., McKay, D., Sprooten, E., Dyer, T. D., Göring, H. H. H., Olvera, R. L., Fox, P. T., et al. (2013) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32211 · Cited by 35 · see citing works
“3 is associated with autism risk which is interesting given the large amount of genetic overlap between psychosis and autism risk [Marshall et al., 2008; Gilman et al., 2012].”
BackgroundCourchet, V., Roberts, A. J., Meyer-Dilhet, G., del Carmine, P., Lewis, T. L., Polleux, F., & Courchet, J. (2018) · Nature Communications · doi:10.1038/s41467-018-06584-5 · Cited by 32 · see citing works
Dixit, P. D., Lyashenko, E., Niepel, M., & Vitkup, D. (2019) · Cell Systems · doi:10.1016/j.cels.2019.11.010 · Cited by 34 · see citing works
“Because Akt is a key hub of mammalian cell signaling (Manning and Toker, 2017), sustained activity of pAkt is implicated in diverse human diseases, such as psychiatric disorders (Gilman et al., 2012) and cancer (Vivanco and Sawyers, 2002).”
BackgroundSelf-citationTobe, R. H., Corcoran, C. M., Breland, M. M., MacKay‐Brandt, A., Klim, C. C., Colcombe, S. J., LEVENTHAL, B. L., & Javitt, D. C. (2016) · Journal of Psychiatric Research · doi:10.1016/j.jpsychires.2016.04.005 · Cited by 31 · see citing works
“While natural history and symptom expression differentiate these disorders, overlap in risk genes and domains of functional impairment also exist (Crespi et al., 2010; Gilman et al., 2012; Rapoport et al., 2009; Watkins et al., 1988).”
BackgroundZeng, L., Fujita, M., Gao, Z., White, C. C., Green, G. S., Habib, N., Menon, V., Bennett, D. A., Boyle, P. A., Klein, H., et al. (2023) · Biological Psychiatry · doi:10.1016/j.biopsych.2023.12.012 · Cited by 31 · see citing works
Guffanti, G., Torri, F., Rasmussen, J. M., Clark, A. P., Lakatos, A., Turner, J. A., Fallon, J. H., Saykin, A. J., Weiner, M. W., Vawter, M. P., et al. (2013) · Genomics · doi:10.1016/j.ygeno.2013.04.004 · Cited by 30 · see citing works
“…as previously described in the context of large CNV studies of schizophrenia, autism and other psychiatric disorders [31,32] In addition, several studies provided evidence for a substantial role of chromosomal structural variations in the pathogenesis of neurological disorders [3,33–35].”
Receptor-based mechanism of relative sensing and cell memory in mammalian signaling networks
Lyashenko, E., Niepel, M., Dixit, P. D., Lim, S. K., Sorger, P. K., & Vitkup, D. (2020) · eLife · doi:10.7554/elife.50342 · Cited by 30 · see citing works
Self-citationNakatochi, M., Kushima, I., & Ozaki, N. (2020) · Journal of Human Genetics · doi:10.1038/s10038-020-00838-1 · Cited by 30 · see citing works
A modular framework for gene set analysis integrating multilevel omics data
Sass, S., Buettner, F., Mueller, N. S., & Theis, F. J. (2013) · Nucleic Acids Research · doi:10.1093/nar/gkt752 · Cited by 29 · see citing works
Gokhale, A., Hartwig, C. L., Freeman, A. A. H., Das, R., Zlatic, S. A., Vistein, R., Burch, A. M., Carrot, G., Lewis, A. F., Nelms, S., et al. (2016) · Journal of Neuroscience · doi:10.1523/jneurosci.1321-16.2016 · Cited by 29 · see citing works
“Such is the case of schizophrenia, a complex polygenic disorder in which high-confidence genetic risk factors have recently converged into discrete cellular and molecular pathways (Gilman et al., 2012; Fromer et al., 2014; Purcell et al., 2014).”
Ahn, S., Kim, T., Kim, K., & Chung, S. (2015) · Methods · doi:10.1016/j.ymeth.2015.09.009 · Cited by 30 · see citing works
Modeling schizophrenia pathogenesis using patient-derived induced pluripotent stem cells (iPSCs)
Noh, H., Shao, Z., Coyle, J. T., & Chung, S. (2017) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2017.06.019 · Cited by 28 · see citing works
Fatjó‐Vilas, M., Prats, C., Pomarol‐Clotet, E., Lázaro, L., Moreno, C., González–Ortega, I., Lera‐Miguel, S., Miret, S., Muñoz, M. J., Ibáñez, I., et al. (2015) · The World Journal of Biological Psychiatry · doi:10.3109/15622975.2015.1093658 · Cited by 28 · see citing works
“Therefore, although further studies are needed, these results are in line with recent trends in the field of molecular genetics, which consider the importance of testing gene networks rather than isolated gene effects for better understanding the gene–phenotype relationship in complex disorders (Gilman et al. 2012).”
ResultWesseling, H., Xu, B., Want, E. J., Holmes, E. C., Guest, P. C., Karayiorgou, M., Gogos, J. A., & Bahn, S. (2016) · Molecular Psychiatry · doi:10.1038/mp.2016.27 · Cited by 25 · see citing works
Self-citationNarayanan, B., Ethridge, L. E., O'Neil, K. M., Dunn, S. M., Mathew, I. T., Tandon, N., Calhoun, V. D., Ruaño, G., Kocherla, M., Windemuth, A., et al. (2015) · American Journal of Psychiatry · doi:10.1176/appi.ajp.2014.13101411 · Cited by 25 · see citing works
Convergent Lines of Evidence Support LRP8 as a Susceptibility Gene for Psychosis
Li, M., The Swedish Bipolar Study Group, Huang, L., Grigoroiu‐Serbânescu, M., Bergen, S. E., Landén, M., Hultman, C. M., Forstner, A. J., Strohmaier, J., Hecker, J., et al. (2015) · Molecular Neurobiology · doi:10.1007/s12035-015-9559-6 · Cited by 25 · see citing works
“Recent studies support the idea that disturbances in a common but limited set of underlying molecular processes or pathways may modulate the risk to psychiatric disorders [44, 67].”
BackgroundMolecular network analysis enhances understanding of the biology of mental disorders
Grennan, K. S., Chen, C., Gershon, E. S., & Liu, C. (2014) · BioEssays · doi:10.1002/bies.201300147 · Cited by 24 · see citing works
“This same general principle has also been tested and observed in SZ [37, 38] and in other AUT studies [39–42].”
ResultPei, G., Hu, R., Dai, Y., Manuel, A. M., Zhao, Z., & Jia, P. (2020) · Nucleic Acids Research · doi:10.1093/nar/gkaa1137 · Cited by 21 · see citing works
“While previous study also reported SCZ related genes tend to highly express during prenatal development (49).”
BackgroundZhang, N., Zhong, P., Shin, S. M., Metallo, J., Danielson, E., Olsen, C. M., Liu, Q.-S., & Lee, S. H. (2015) · Journal of Neuroscience · doi:10.1523/jneurosci.3658-14.2015 · Cited by 21 · see citing works
“This is consistent with the findings that diverse types of SZassociated mutations converge on common signaling pathways (Gilman et al., 2012) and also with the notion that abnormalities of postsynaptic signaling complexes are involved in the pathogenesis of SZ (Kirov et al., 2012).”
ResultUnlocking the Treasure Trove: From Genes to Schizophrenia Biology
McCarthy, S. E., McCombie, W. R., & Corvin, A. P. (2014) · Schizophrenia Bulletin · doi:10.1093/schbul/sbu042 · Cited by 20 · see citing works
Ma, L., Rolls, E. T., Liu, X., Liu, Y., Jiao, Z., Wang, Y., Gong, W., Ma, Z.-M., Gong, F., & Wan, L. (2018) · Journal of Molecular Cell Biology · doi:10.1093/jmcb/mjy071 · Cited by 20 · see citing works
“of schizophrenia-associated genetic variations (Gilman et al., 2012).”
Li, Y., Ma, C., Li, S., Wang, J., Li, W., Yang, Y., Li, X., Liu, J., Yang, J., Liu, Y., et al. (2022) · Advanced Science · doi:10.1002/advs.202104786 · Cited by 21 · see citing works
Tee, J. Y., Sutharsan, R., Fan, Y., & Mackay‐Sim, A. (2017) · Molecular and Cellular Neuroscience · doi:10.1016/j.mcn.2017.03.005 · Cited by 19 · see citing works
“Defective adhesion is directly interlinked with cell migration and axon guidance, pathways that are also found to be abnormal among the schizophrenia risk genes (Gilman et al., 2012; Kahler et al., 2008; Perkins et al., 2007; Potkin et al., 2009).”
Pei, G., Wang, Y., Simon, L. M., Dai, Y., Zhao, Z., & Jia, P. (2020) · Genome Research · doi:10.1101/gr.265769.120 · Cited by 17 · see citing works
“…in brains of autism patients (Voineagu et al. 2011); schizophrenia (SCZ)-related genes were found highly expressed during prenatal development (Gilman et al. 2012); and several regions, including the amygdala, hippocampus, and prefrontal cortex, were found to be related to bipolar disorder…”
BackgroundKas, M. J., Modi, M. E., Saxe, M., & Smith, D. G. (2014) · Psychopharmacology · doi:10.1007/s00213-014-3464-y · Cited by 18 · see citing works
“While it has been challenging to link environmental risk factors to specific physiological or molecular mechanisms, many genetic variants associated with ASD (and monogenic neurodevelopmental syndromes that are symptomatically related to ASD) have been shown to affect some of the same pathways and neuronal functions,…”
BackgroundMeCP2 Dysfunction in Rett Syndrome and Neuropsychiatric Disorders
Chin, E., & Goh, E. L. K. (2019) · Methods in molecular biology · doi:10.1007/978-1-4939-9554-7_33 · Cited by 20 · see citing works
Shohat, S., Amelan, A., & Shifman, S. (2020) · Biological Psychiatry · doi:10.1016/j.biopsych.2020.05.019 · Cited by 19 · see citing works
Immune synaptopathies: how maternal immune activation impacts synaptic function during development
Matteoli, M., Pozzi, D., Fossati, M., & Menna, E. (2023) · The EMBO Journal · doi:10.15252/embj.2023113796 · Cited by 16 · see citing works
“Furthermore, it was found that mutations in synaptic genes originally discovered as related to a specific NDD can increase susceptibility to other NDDs (Gilman et al , 2012; Zhu et al , 2014; Parenti et al , 2020) (Cross-Disorder Group of the Psychiatric Genomics Consortium, 2013; Cross-Disorder Group of the Psychiatr…”
InfluentialLamarckian evolution explains human brain evolution and psychiatric disorders
Barry, G. (2013) · Frontiers in Neuroscience · doi:10.3389/fnins.2013.00224 · Cited by 17 · see citing works
“As more studies are performed on patients with psychiatric disorders it is becoming apparent that there is a significant overlap in gene pathways affected by de novo mutations (Gilman et al., 2012).”
Unveiling the Pathogenesis of Psychiatric Disorders Using Network Models
Zuo, Y., Don, W., Zhu, C., Naveed, O., Hong, W., & Yang, X. (2021) · Genes · doi:10.3390/genes12071101 · Cited by 17 · see citing works
Modeling genotypes in their microenvironment to predict single- and multi-cellular behavior
Voukantsis, D., Kahn, K., Hadley, M., Wilson, R., & Buffa, F. M. (2019) · GigaScience · doi:10.1093/gigascience/giz010 · Cited by 15 · see citing works
“Several of the key biological pathways regulating cellular function are increasingly understood, along with their dysregulation in multiple diseases [6–9].”
Chromatin remodeling dysfunction extends the etiological spectrum of schizophrenia: a case report
Poisson, A., Chatron, N., Labalme, A., Fourneret, P., Ville, D., Mathieu, M. L., Sanlaville, D., Demily, C., & Lesca, G. (2020) · BMC Medical Genetics · doi:10.1186/s12881-019-0946-0 · Cited by 16 · see citing works
- Authors
- Gilman, S. R., Chang, J., Xu, B., Bawa, T. S., Gogos, J. A., Karayiorgou, M., & Vitkup, D.
- Affiliations
- Columbia University (US)
- Corresponding author
- Vitkup, Dennis
- Venue
- Nature Neuroscience
- Published
- 2012-11-11
- Volume
- 15
- Issue
- 12
- Pages
- 1723-1728
- ISSN
- 1097-6256 (ISSN-L)
- 1546-1726
- PMC
- PMC3689007
- OpenAlex
- W2138976678
- Cited by
- 200
- References
- 50
- Citations by year
- 2026: 1 · 2025: 4 · 2024: 4 · 2023: 9 · 2022: 4 · 2021: 10 · 2020: 23 · 2019: 31 · 2018: 12 · 2017: 9 · 2016: 16 · 2015: 20 · 2014: 30 · 2013: 26 · 2012: 1
- FWCI
- 17.59
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Neuroscience (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institute of Mental Health (MH061399, R01MH061399, R01MH077235, MH077235)
- National Cancer Institute (U54CA121852)
- National Institute of General Medical Sciences (T32GM082797, R01GM079759)
- U.S. National Library of Medicine (T15LM007079)
- Topics
- Health Sciences › Medicine › Psychiatry and Mental health › Schizophrenia research and treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Bioinformatics and Genomic Networks
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- schizophrenia, genetic variation, gene networks, axon guidance, synaptic function, copy number variation, autism spectrum disorder, intellectual disability, brain gene expression, prenatal development
- MeSH terms
- Autistic Disorder, Multigene Family, Humans, Intellectual Disability, Phenotype, Schizophrenia, Genetic Variation, Cluster Analysis, Gene Expression Regulation, Developmental, Genetic Predisposition to Disease, Gene Regulatory Networks, Protein Interaction Domains and Motifs, Genome-Wide Association Study
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
