Germline Chd8 haploinsufficiency alters brain development in mouse
Open accessPublished version of a preprint
Abstract
The chromatin remodeling gene CHD8 represents a central node in neurodevelopmental gene networks implicated in autism. We examined the impact of germline heterozygous frameshift Chd8 mutation on neurodevelopment in mice. Chd8+/del5 mice displayed normal social interactions with no repetitive behaviors but exhibited cognitive impairment correlated with increased regional brain volume, validating that phenotypes of Chd8+/del5 mice overlap pathology reported in humans with CHD8 mutations. We applied network analysis to characterize neurodevelopmental gene expression, revealing widespread transcriptional changes in Chd8+/del5 mice across pathways disrupted in neurodevelopmental disorders, including neurogenesis, synaptic processes and neuroimmune signaling. We identified a co-expression module with peak expression in early brain development featuring dysregulation of RNA processing, chromatin remodeling and cell-cycle genes enriched for promoter binding by Chd8, and we validated increased neuronal proliferation and developmental splicing perturbation in Chd8+/del5 mice. This integrative analysis offers an initial picture of the consequences of Chd8 haploinsufficiency for brain development.
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?
Studies on CHD8 and iPS-derived ASD neurons indicate the dysregulation of proliferation and macrocephaly in ASD could be linked to the disruption of these signaling pathways and shortened G1/S transition.
“Studies on CHD8 and iPS-derived ASD neurons indicate the dysregulation of proliferation and macrocephaly in ASD could be linked to the disruption of these signaling pathways and shortened G1/S transition[54, 55, 57, 94, 183, 192, 193].”
From The ASD Living Biology: from cell proliferation to clinical phenotype (2019) · cites this paper as [183]
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
Basic local alignment search tool
Altschul, S. F., Gish, W., Miller, W., Myers, E. W., & Lipman, D. J. (1990) · Journal of Molecular Biology · doi:10.1006/jmbi.1990.9999 · Cited by 98,669 · see citing works
Fiji: an open-source platform for biological-image analysis
Schindelin, J., Arganda-Carreras, I., Frise, E., Kaynig, V., Longair, M., Pietzsch, T., Preibisch, S., Rueden, C., Saalfeld, S., Schmid, B., et al. (2012) · Nature Methods · doi:10.1038/nmeth.2019 · Cited by 66,890 · see citing works
Fast and accurate short read alignment with Burrows-Wheeler transform
Li, H., & Durbin, R. (2009) · Bioinformatics · doi:10.1093/bioinformatics/btp324 · Cited by 58,607 · see citing works
STAR: ultrafast universal RNA-seq aligner
Dobin, A., Davis, C. A., Schlesinger, F., Drenkow, J., Zaleski, C., Jha, S., Batut, P., Chaisson, M., & Gingeras, T. R. (2013) · Bioinformatics · doi:10.1093/bioinformatics/bts635 · Cited by 51,709 · see citing works
Robinson, M. D., McCarthy, D. J., & Smyth, G. K. (2010) · Bioinformatics · doi:10.1093/bioinformatics/btp616 · Cited by 41,364 · see citing works
WGCNA: an R package for weighted correlation network analysis
Langfelder, P., & Horvath, S. (2008) · BMC Bioinformatics · doi:10.1186/1471-2105-9-559 · Cited by 27,252 · see citing works
featureCounts: an efficient general purpose program for assigning sequence reads to genomic features
Liao, Y., Smyth, G. K., & Shi, W. (2014) · Bioinformatics · doi:10.1093/bioinformatics/btt656 · Cited by 27,219 · see citing works
RNA-Guided Human Genome Engineering via Cas9
Mali, P., Yang, L., Esvelt, K. M., Aach, J., Guell, M., DiCarlo, J. E., Norville, J. E., & Church, G. M. (2013) · Science · doi:10.1126/science.1232033 · Cited by 9,210 · see citing works
Enrichr: interactive and collaborative HTML5 gene list enrichment analysis tool
Chen, E. Y., Tan, C. M., Kou, Y., Duan, Q., Wang, Z., Meirelles, G. V., Clark, N. R., & Ma’ayan, A. (2013) · BMC Bioinformatics · doi:10.1186/1471-2105-14-128 · Cited by 7,814 · see citing works
Gene ontology analysis for RNA-seq: accounting for selection bias
Young, M. D., Wakefield, M. J., Smyth, G. K., & Oshlack, A. (2010) · Genome Biology · doi:10.1186/gb-2010-11-2-r14 · Cited by 7,107 · see citing works
A General Framework for Weighted Gene Co-Expression Network Analysis
Zhang, B., & Horvath, S. (2005) · Statistical Applications in Genetics and Molecular Biology · doi:10.2202/1544-6115.1128 · Cited by 5,684 · see citing works
Avants, B., Epstein, C. L., Grossman, M., & Gee, J. C. (2007) · Medical Image Analysis · doi:10.1016/j.media.2007.06.004 · Cited by 5,618 · see citing works
Thresholding of statistical maps in functional neuroimaging using the false discovery rate
Genovese, C. R., Lazar, N. A., & Nichols, T. (2002) · NeuroImage · doi:10.1006/nimg.2001.1037 · Cited by 4,923 · see citing works
A reproducible evaluation of ANTs similarity metric performance in brain image registration
Avants, B. B., Tustison, N. J., Song, G., Cook, P. A., Klein, A., & Gee, J. C. (2011) · NeuroImage · doi:10.1016/j.neuroimage.2010.09.025 · Cited by 4,796 · see citing works
Automatic 3D intersubject registration of MR volumetric data in standardized Talairach space
Collins, D. L., Neelin, P., Peters, T. M., & Evans, A. C. (1994) · Journal of Computer Assisted Tomography · doi:10.1097/00004728-199403000-00005 · Cited by 3,431 · see citing works
RSeQC: quality control of RNA-seq experiments
Wang, L., Wang, S., & Li, W. (2012) · Bioinformatics · doi:10.1093/bioinformatics/bts356 · Cited by 2,813 · see citing works
Synaptic, transcriptional and chromatin genes disrupted in autism
Study, T. D., De Rubeis, S., Autism, H. M. C. F., UK10K Consortium, The Autism Sequencing Consortium, He, X., Goldberg, A. P., Poultney, C. S., Samocha, K., Ercument Cicek, A., et al. (2014) · Nature · doi:10.1038/nature13772 · Cited by 2,746 · see citing works
The contribution of de novo coding mutations to autism spectrum disorder
Iossifov, I., O’Roak, B. J., Sanders, S. J., Ronemus, M., Krumm, N., Levy, D., Stessman, H. A., Witherspoon, K. T., Vives, L., Patterson, K. E., et al. (2014) · Nature · doi:10.1038/nature13908 · Cited by 2,585 · see citing works
STRING 8--a global view on proteins and their functional interactions in 630 organisms
Jensen, L. J., Kuhn, M., Stark, M., Chaffron, S., Creevey, C. J., Muller, J., Doerks, T., Julien, P., Roth, A. C., Simonovic, M., et al. (2008) · Nucleic Acids Research · doi:10.1093/nar/gkn760 · Cited by 2,475 · see citing works
FMRP Stalls Ribosomal Translocation on mRNAs Linked to Synaptic Function and Autism
Darnell, J. C., Van Driesche, S. J., Zhang, C., Hung, K. Y. S., Mele, A., Fraser, C. E., Stone, E. F., Chen, C., Fak, J. J., Chi, S. W., et al. (2011) · Cell · doi:10.1016/j.cell.2011.06.013 · Cited by 2,072 · see citing works
The Reactome pathway knowledgebase
Croft, D., Mundo, A. F., Haw, R., Milacic, M., Weiser, J., Wu, G., Caudy, M., Garapati, P., Gillespie, M., Kamdar, M. R., et al. (2014) · Nucleic Acids Research · doi:10.1093/nar/gkt1102 · Cited by 1,889 · see citing works
Transcriptomic Analysis of Autistic Brain Reveals Convergent Molecular Pathology
Voineagu, I., Wang, X., Johnston, P., Lowe, J. K., Tian, Y., Horvath, S., Mill, J., Cantor, R. M., Blencowe, B. J., & Geschwind, D. H. (2011) · Nature · doi:10.1038/nature10110 · Cited by 1,874 · cited 1× · see citing works
“Finally, we observed enrichment ( P = 0.012) between DE upregulated genes and genes associated with immune response that were upregulated in cortex from postmortem ASD brains 23,24 .”
InfluentialBehavioural phenotyping assays for mouse models of autism
Silverman, J. L., Yang, M., Lord, C., & Crawley, J. N. (2010) · Nature Reviews Neuroscience · doi:10.1038/nrn2851 · Cited by 1,462 · see citing works
Self-citationInsights into autism spectrum disorder genomic architecture and biology from 71 risk loci
Sanders, S. J., He, X., Willsey, A. J., Ercan-Sencicek, A. G., Samocha, K. E., Cicek, A. E., Murtha, M. T., Bal, V. H., Bishop, S. L., Dong, S., et al. (2015) · Neuron · doi:10.1016/j.neuron.2015.09.016 · Cited by 1,430 · see citing works
Analysis and design of RNA sequencing experiments for identifying isoform regulation
Katz, Y., Wang, E. T., Airoldi, E. M., & Burge, C. B. (2010) · Nature Methods · doi:10.1038/nmeth.1528 · Cited by 1,353 · see citing works
The Reactome pathway Knowledgebase
Fabregat, A., Sidiropoulos, K., Garapati, P., Gillespie, M., Hausmann, K., Haw, R., Jassal, B., Jupe, S., Korninger, F., McKay, S., et al. (2016) · Nucleic Acids Research · doi:10.1093/nar/gkv1351 · Cited by 1,201 · see citing works
Chromatin remodelling during development
Ho, L., & Crabtree, G. R. (2010) · Nature · doi:10.1038/nature08911 · Cited by 1,114 · see citing works
Integrative functional genomic analyses implicate specific molecular pathways and circuits in autism
Parikshak, N. N., Luo, R., Zhang, A., Won, H., Lowe, J. K., Chandran, V., Horvath, S., & Geschwind, D. H. (2013) · Cell · doi:10.1016/j.cell.2013.10.031 · Cited by 1,039 · see citing works
Willsey, A. J., Sanders, S. J., Li, M., Dong, S., Tebbenkamp, A. T., Muhle, R. A., Reilly, S. K., Lin, L., Fertuzinhos, S., Miller, J. A., et al. (2013) · Cell · doi:10.1016/j.cell.2013.10.020 · Cited by 934 · see citing works
Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development
Bernier, R., Golzio, C., Xiong, B., Stessman, H. A., Coe, B. P., Penn, O., Witherspoon, K., Gerdts, J., Baker, C., Vulto-van Silfhout, A. T., et al. (2014) · Cell · doi:10.1016/j.cell.2014.06.017 · Cited by 798 · see citing works
Rogers, D. C., Fisher, E. M. C., Brown, S. D. M., Peters, J., Hunter, A. J., & Martin, J. E. (1997) · Mammalian Genome · doi:10.1007/s003359900551 · Cited by 795 · see citing works
Genetic studies in intellectual disability and related disorders
Vissers, L. E. L. M., Gilissen, C., & Veltman, J. A. (2016) · Nature Reviews Genetics · doi:10.1038/nrg3999 · Cited by 761 · see citing works
Marble burying reflects a repetitive and perseverative behavior more than novelty-induced anxiety
Thomas, A., Burant, A., Bui, N., Graham, D., Yuva-Paylor, L. A., & Paylor, R. (2009) · Psychopharmacology · doi:10.1007/s00213-009-1466-y · Cited by 698 · see citing works
Genome-wide changes in lncRNA, splicing, and regional gene expression patterns in autism
Parikshak, N. N., Swarup, V., Belgard, T. G., Irimia, M., Ramaswami, G., Gandal, M. J., Hartl, C., Leppa, V., Ubieta, L. D. L. T., Huang, J., et al. (2016) · Nature · doi:10.1038/nature20612 · Cited by 685 · cited 4× · see citing works
“DS genes identified in Chd8 + / del5 mouse brain were enriched for DS-associated genes identified in post-mortem ASD cortex 24 ( P = 1.2 × 10 −17 ), suggesting that DS in Chd8 + / del5 mice is linked to ASD-relevant DS ( Supplementary Fig.”
InfluentialChromatin modifiers and remodellers: regulators of cellular differentiation
Chen, T., & Dent, S. (2013) · Nature Reviews Genetics · doi:10.1038/nrg3607 · Cited by 613 · see citing works
Automated Three‐Chambered Social Approach Task for Mice
Yang, M., Silverman, J. L., & Crawley, J. N. (2011) · Current Protocols in Neuroscience · doi:10.1002/0471142301.ns0826s56 · Cited by 598 · see citing works
Self-citationRegulatory Sequence Analysis Tools
van Helden, J. (2003) · Nucleic Acids Research · doi:10.1093/nar/gkg567 · Cited by 545 · see citing works
From neural development to cognition: unexpected roles for chromatin
Ronan, J. L., Wu, W., & Crabtree, G. R. (2013) · Nature Reviews Genetics · doi:10.1038/nrg3413 · Cited by 544 · see citing works
Dorr, A. E., Lerch, J. P., Spring, S., Kabani, N. J., & Henkelman, R. M. (2008) · NeuroImage · doi:10.1016/j.neuroimage.2008.03.037 · Cited by 539 · see citing works
Self-citationEtherton, M. R., Blaiss, C. A., Powell, C. M., & Südhof, T. C. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0910297106 · Cited by 447 · 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
Rapid and Pervasive Changes in Genome-wide Enhancer Usage during Mammalian Development
Nord, A. S., Blow, M. J., Attanasio, C., Akiyama, J. A., Holt, A., Hosseini, R., Phouanenavong, S., Plajzer-Frick, I., Shoukry, M., Afzal, V., et al. (2013) · Cell · doi:10.1016/j.cell.2013.11.033 · Cited by 375 · see citing works
Self-citationIsolated heart perfusion according to Langendorff—Still viable in the new millennium
Skrzypiec‐Spring, M., Grotthus, B., Szeląg, A., & Schulz, R. (2006) · Journal of Pharmacological and Toxicological Methods · doi:10.1016/j.vascn.2006.05.006 · Cited by 356 · see citing works
CHD8 haploinsufficiency results in autistic-like phenotypes in mice
Katayama, Y., Nishiyama, M., Shoji, H., Ohkawa, Y., Kawamura, A., Sato, T., Suyama, M., Takumi, T., Miyakawa, T., & Nakayama, K. I. (2016) · Nature · doi:10.1038/nature19357 · Cited by 353 · see citing works
Cotney, J., Muhle, R. A., Sanders, S. J., Liu, L., Willsey, A. J., Niu, W., Liu, W., Klei, L., Lei, J., Yin, J., et al. (2015) · Nature Communications · doi:10.1038/ncomms7404 · Cited by 350 · see citing works
Cell-Type-Specific Alternative Splicing Governs Cell Fate in the Developing Cerebral Cortex
Zhang, X., Chen, M. H., Wu, X., Kodani, A., Fan, J., Doan, R. N., Ozawa, M., Ma, J., Yoshida, N., Reiter, J. F., et al. (2016) · Cell · doi:10.1016/j.cell.2016.07.025 · Cited by 343 · see citing works
Sugathan, A., Biagioli, M., Golzio, C., Erdin, S., Blumenthal, I., Manavalan, P., Ragavendran, A., Brand, H., Lucente, D., Miles, J., et al. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1405266111 · Cited by 342 · see citing works
Scattoni, M. L., Ricceri, L., & Crawley, J. N. (2010) · Genes Brain & Behavior · doi:10.1111/j.1601-183x.2010.00623.x · Cited by 336 · see citing works
Self-citationMcCarthy, 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
Minimal aberrant behavioral phenotypes of neuroligin‐3 R451C knockin mice
Chadman, K. K., Gong, S., Scattoni, M. L., Boltuck, S. E., Gandhy, S. U., Heintz, N., & Crawley, J. N. (2008) · Autism Research · doi:10.1002/aur.22 · Cited by 292 · see citing works
Self-citationEllegood, J., Anagnostou, E., Babineau, B. A., Crawley, J. N., Lin, L., Genestine, M., DiCicco-Bloom, E., Lai, J. K. Y., Foster, J. A., Peñagarikano, O., et al. (2015) · Molecular Psychiatry · doi:10.1038/mp.2014.98 · Cited by 288 · see citing works
Self-citationUsing MACS to Identify Peaks from ChIP‐Seq Data
Feng, J., Liu, T., & Zhang, Y. (2011) · Current Protocols in Bioinformatics · doi:10.1002/0471250953.bi0214s34 · Cited by 253 · see citing works
Silverman, J. L., Smith, D. G., Rizzo, S. J. S., Karras, M. N., Turner, S. M., Tolu, S. S., Bryce, D. K., Smith, D. L., Fonseca, K., Ring, R. H., et al. (2012) · Science Translational Medicine · doi:10.1126/scitranslmed.3003501 · Cited by 251 · see citing works
Self-citationHenderson, C., Wijetunge, L., Kinoshita, M. N., Shumway, M., Hammond, R. S., Postma, F. R., Brynczka, C., Rush, R., Thomas, A., Paylor, R., et al. (2012) · Science Translational Medicine · doi:10.1126/scitranslmed.3004218 · Cited by 249 · see citing works
The 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
RSAT 2015: Regulatory Sequence Analysis Tools
Medina-Rivera, A., Defrance, M., Sand, O., Herrmann, C., Castro-Mondragon, J. A., Delerce, J., Jaeger, S., Blanchet, C., Vincens, P., Caron, C., et al. (2015) · Nucleic Acids Research · doi:10.1093/nar/gkv362 · Cited by 246 · see citing works
Hallmarks of Alzheimer’s Disease in Stem-Cell-Derived Human Neurons Transplanted into Mouse Brain
Espuny-Camacho, I., Arranz, A. M., Fiers, M., Snellinx, A., Ando, K., Munck, S., Bonnefont, J., Lambot, L., Corthout, N., Omodho, L., et al. (2017) · Neuron · doi:10.1016/j.neuron.2017.02.001 · Cited by 244 · see citing works
Chd8 mediates cortical neurogenesis via transcriptional regulation of cell cycle and Wnt signaling
Durak, O., Gao, F., Kaeser-Woo, Y. J., Rueda, R., Martorell, A. J., Nott, A., Liu, C. Y., Watson, L. A., & Tsai, L.-H. (2016) · Nature Neuroscience · doi:10.1038/nn.4400 · Cited by 243 · see citing works
Chd8 Mutation Leads to Autistic-like Behaviors and Impaired Striatal Circuits
Platt, R. J., Zhou, Y., Slaymaker, I. M., Shetty, A. S., Weisbach, N. R., Kim, J.-A., Sharma, J., Desai, M., Sood, S., Kempton, H. R., et al. (2017) · Cell Reports · doi:10.1016/j.celrep.2017.03.052 · Cited by 240 · see citing works
Cytoplasmic Rbfox1 Regulates the Expression of Synaptic and Autism-Related Genes
Lee, J.-A., Damianov, A., Lin, C.-H., Fontes, M., Parikshak, N. N., Anderson, E. S., Geschwind, D. H., Black, D. L., & Martin, K. C. (2016) · Neuron · doi:10.1016/j.neuron.2015.11.025 · Cited by 232 · see citing works
Silverman, J. L., Pride, M. C., Hayes, J. E., Puhger, K. R., Butler-Struben, H. M., Baker, S., & Crawley, J. N. (2015) · Neuropsychopharmacology · doi:10.1038/npp.2015.66 · Cited by 215 · see citing works
Self-citationCHD8 suppresses p53-mediated apoptosis through histone H1 recruitment during early embryogenesis
Nishiyama, M., Oshikawa, K., Tsukada, Y.-I., Nakagawa, T., Iemura, S.-I., Natsume, T., Fan, Y., Kikuchi, A., Skoultchi, A. I., & Nakayama, K. I. (2009) · Nature Cell Biology · doi:10.1038/ncb1831 · Cited by 203 · see citing works
Wöhr, M., & Scattoni, M. L. (2013) · Behavioural Brain Research · doi:10.1016/j.bbr.2013.05.047 · Cited by 178 · see citing works
Steadman, P. E., Ellegood, J., Szulc, K. U., Turnbull, D. H., Joyner, A. L., Henkelman, R. M., & Lerch, J. P. (2013) · Autism Research · doi:10.1002/aur.1344 · Cited by 169 · see citing works
Self-citationPreparation of fixed mouse brains for MRI
Cahill, L. S., Laliberté, C. L., Ellegood, J., Spring, S., Gleave, J. A., van Eede, M. C., Lerch, J. P., & Henkelman, R. M. (2012) · NeuroImage · doi:10.1016/j.neuroimage.2012.01.100 · Cited by 153 · see citing works
Self-citationLaumonnier, F., Shoubridge, C., Antar, C., Nguyen, L. S., Esch, H. V., Kleefstra, T., Briault, S., Fryns, J. P., Hamel, B., Chelly, J., et al. (2009) · Molecular Psychiatry · doi:10.1038/mp.2009.14 · Cited by 149 · see citing works
Low stress reactivity and neuroendocrine factors in the BTBR T+tf/J mouse model of autism
Silverman, J. L., Yang, M., Turner, S. M., Katz, A. M., Bell, D. B., Koenig, J. I., & Crawley, J. N. (2010) · Neuroscience · doi:10.1016/j.neuroscience.2010.09.059 · Cited by 146 · see citing works
Self-citationClipperton‐Allen, A. E., & Page, D. T. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddu057 · Cited by 134 · see citing works
Cortical thickness measured from MRI in the YAC128 mouse model of Huntington's disease
Lerch, J. P., Carroll, J. B., Dorr, A. E., Spring, S., Evans, A. C., Hayden, M. R., Sled, J. G., & Henkelman, R. M. (2008) · NeuroImage · doi:10.1016/j.neuroimage.2008.02.019 · Cited by 133 · see citing works
Self-citationLong-term exposure to intranasal oxytocin in a mouse autism model
Bales, K. L., Solomon, M., Jacob, S., Crawley, J. N., Silverman, J. L., Larke, R. H., Sahagún, E., Puhger, K. R., Pride, M. C., & Mendoza, S. P. (2014) · Translational Psychiatry · doi:10.1038/tp.2014.117 · Cited by 131 · see citing works
Self-citationNieman, B. J., Flenniken, A. M., Adamson, S. L., Henkelman, R. M., & Sled, J. G. (2006) · Physiological Genomics · doi:10.1152/physiolgenomics.00217.2005 · Cited by 122 · see citing works
Brunner, D., Kabitzke, P., He, D., Cox, K., Thiede, L., Hanania, T., Sabath, E., Alexandrov, V., Saxe, M., Peles, E., et al. (2015) · PLOS ONE · doi:10.1371/journal.pone.0134572 · Cited by 111 · see citing works
Thomas, A. M., Bui, N., Perkins, J. R., Yuva‐Paylor, L. A., & Paylor, R. E. (2011) · Psychopharmacology · doi:10.1007/s00213-011-2375-4 · Cited by 99 · see citing works
Orosco, L. A., Ross, A. P., Cates, S. L., Scott, S. E., Wu, D., Sohn, J., Pleasure, D., Pleasure, S. J., Adamopoulos, I. E., & Zarbalis, K. S. (2014) · Nature Communications · doi:10.1038/ncomms5692 · Cited by 90 · see citing works
Self-citationEarly Embryonic Death in Mice Lacking the β-Catenin-Binding Protein Duplin
Nishiyama, M., Nakayama, K., Tsunematsu, R., Tsukiyama, T., Kikuchi, A., & Nakayama, K. I. (2004) · Molecular and Cellular Biology · doi:10.1128/mcb.24.19.8386-8394.2004 · Cited by 86 · see citing works
FMR1 premutation and full mutation molecular mechanisms related to autism
Hagerman, R., Au, J., & Hagerman, P. (2011) · Journal of Neurodevelopmental Disorders · doi:10.1007/s11689-011-9084-5 · Cited by 85 · 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
Galazo, M. J., Emsley, J. G., & Macklis, J. D. (2016) · Neuron · doi:10.1016/j.neuron.2016.05.024 · Cited by 80 · see citing works
Post‐transcriptional regulation in corticogenesis: how RNA‐binding proteins help build the brain
Pilaz, L., & Silver, D. L. (2015) · Wiley Interdisciplinary Reviews - RNA · doi:10.1002/wrna.1289 · Cited by 71 · see citing works
Yang, M., Lewis, F. C., Sarvi, M. S., Foley, G. M., & Crawley, J. N. (2015) · Learning & Memory · doi:10.1101/lm.039602.115 · Cited by 70 · see citing works
Self-citationLaere, S. V., der Auwera, I. V., den Eynden, G. V., Hummelen, P. V., van Dam, P. A., Marck, E. V., Vermeulen, P. B., & Dirix, L. Y. (2007) · British Journal of Cancer · doi:10.1038/sj.bjc.6603967 · Cited by 69 · see citing works
Full UPF3B function is critical for neuronal differentiation of neural stem cells
Alrahbeni, T. M. A., Sartor, F., Anderson, J., Miedzybrodzka, Z., McCaig, C., & Müller, B. (2015) · Molecular Brain · doi:10.1186/s13041-015-0122-1 · Cited by 66 · see citing works
Bock, N. A., Kovacevic, N., Lipina, T. V., Roder, J., Ackerman, S. L., & Henkelman, R. M. (2006) · Journal of Neuroscience · doi:10.1523/jneurosci.5438-05.2006 · Cited by 59 · see citing works
A Novel and Multivalent Role of Pax6 in Cerebellar Development
Yeung, J., Ha, T. J., Swanson, D. J., & Goldowitz, D. (2016) · Journal of Neuroscience · doi:10.1523/jneurosci.4385-15.2016 · Cited by 59 · see citing works
Damaschke, N., Yang, B., Blute, M. L., Lin, C. P., Huang, W., & Jarrard, D. F. (2014) · Neoplasia · doi:10.1016/j.neo.2014.10.003 · Cited by 51 · see citing works
Behavioral assessment of NIH Swiss mice acutely intoxicated with tetramethylenedisulfotetramine
Flannery, B. M., Silverman, J. L., Bruun, D. A., Puhger, K. R., McCoy, M. R., Hammock, B. D., Crawley, J. N., & Lein, P. J. (2014) · Neurotoxicology and Teratology · doi:10.1016/j.ntt.2014.10.008 · Cited by 50 · see citing works
Self-citationSawada, G., Ueo, H., Matsumura, T., Uchi, R., Ishibashi, M., Mima, K., Kurashige, J., TAKAHASHI, Y., AKIYOSHI, S., Sudo, T., et al. (2013) · Oncology Reports · doi:10.3892/or.2013.2597 · Cited by 48 · see citing works
Fast spin‐echo for multiple mouse magnetic resonance phenotyping
Nieman, B. J., Bock, N. A., Bishop, J., Sled, J. G., Chen, X., & Henkelman, R. M. (2005) · Magnetic Resonance in Medicine · doi:10.1002/mrm.20590 · Cited by 42 · see citing works
Influence of stimulant-induced hyperactivity on social approach in the BTBR mouse model of autism
Silverman, J. L., Babineau, B. A., Oliver, C. F., Karras, M. N., & Crawley, J. N. (2012) · Neuropharmacology · doi:10.1016/j.neuropharm.2012.07.042 · Cited by 42 · see citing works
Self-citationDu, C., Ma, X., Meruvu, S., Hugendubler, L., & Mueller, E. (2014) · Journal of Lipid Research · doi:10.1194/jlr.m047555 · Cited by 36 · see citing works
Delay and trace fear conditioning in C57BL/6 and DBA/2 mice: issues of measurement and performancePreprint
Tipps, M. E., Raybuck, J. D., Buck, K. J., & Lattal, K. M. (2014) · Learning & Memory · doi:10.1101/lm.035261.114 · Cited by 34 · see citing works
Kobayashi, M., Kishida, S., Fukui, A., Michiue, T., Miyamoto, Y., Okamoto, T., Yoneda, Y., Asashima, M., & Kikuchi, A. (2002) · Journal of Biological Chemistry · doi:10.1074/jbc.m108433200 · Cited by 31 · see citing works
Huang, Z., Yu, Y., Shimoda, Y., Watanabe, K., & Liu, Y. (2011) · The Journal of Comparative Neurology · doi:10.1002/cne.22772 · Cited by 28 · see citing works
Development of MRI ‐based atlases of non‐human brains
Ullmann, J. F. P., Janke, A. L., Reutens, D. C., & WATSON, C. R. R. (2014) · The Journal of Comparative Neurology · doi:10.1002/cne.23678 · Cited by 26 · see citing works
Nguyen, K. H., Yao, X., Erickson, A. G., Mishra, S., & Nyomba, B. L. G. (2014) · Endocrinology · doi:10.1210/en.2014-1271 · Cited by 22 · see citing works
Lloyd-Burton, S. M., & Roskams, A. J. (2011) · The Journal of Comparative Neurology · doi:10.1002/cne.23029 · Cited by 22 · see citing works
Seo, Y., Shinar, H., Morita, Y., & Navon, G. (1999) · Magnetic Resonance in Medicine · doi:10.1002/(sici)1522-2594(199909)42:3 · Cited by 19 · see citing works
Agenesis of the corpus callosum in Nogo receptor deficient mice
Yoo, S., Motari, M. G., & Schnaar, R. L. (2016) · The Journal of Comparative Neurology · doi:10.1002/cne.24064 · Cited by 11 · see citing works
Flagged first, then by citations
Research works printed but not linked: 2
- [65]Bock NA In vivo magnetic resonance imaging and semiautomated image analysis extend the brain phenotype for cdf/cdf mice J Neurosci 26 4455 4459 2006 16641223 PMC6674055
- [67]Jones DK Horsfield MA Simmons A Optimal strategies for measuring diffusion in anisotropic systems by magnetic resonance imaging Magn Reson Med 42 515 525 1999 10467296
Cited by
Sorted by citations
The ASD Living Biology: from cell proliferation to clinical phenotype
Courchesne, E., Pramparo, T., Gazestani, V. H., Lombardo, M. V., Pierce, K., & Lewis, N. E. (2019) · Molecular Psychiatry · doi:10.1038/s41380-018-0056-y · Cited by 333 · see citing works
Wang, X., Wang, B., Wu, C., Wang, J., & Sun, M. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms24031819 · Cited by 274 · see citing works
Behavioral neuroscience of autism
Takumi, T., Tamada, K., Hatanaka, F., Nakai, N., & Bolton, P. (2019) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2019.04.012 · Cited by 163 · see citing works
Cranial Suture Regeneration Mitigates Skull and Neurocognitive Defects in Craniosynostosis
Yu, M., Ma, L., Yuan, Y., Ye, X., Montagne, A., He, J., Ho, T., Wu, Y., Zhao, Z., Maria, N. S. S., et al. (2021) · Cell · doi:10.1016/j.cell.2020.11.037 · Cited by 160 · see citing works
Sexually dimorphic behavior, neuronal activity, and gene expression in Chd8-mutant mice
Jung, H., Park, H., Choi, Y., Kang, H., Lee, E., Kweon, H., Roh, J. D., Ellegood, J., Choi, W., Kang, J., et al. (2018) · Nature Neuroscience · doi:10.1038/s41593-018-0208-z · Cited by 157 · see citing works
Self-citationZhao, C., Dong, C., Frah, M., Deng, Y., Marie, C., Zhang, F., Xu, L., Ma, Z., Dong, X., Lin, Y., et al. (2018) · Developmental Cell · doi:10.1016/j.devcel.2018.05.022 · Cited by 146 · see citing works
Zhang, W., Ma, L., Yang, M., Shao, Q., Xu, J., Lu, Z., Zhao, Z., Chen, R., Chai, Y., & Chen, J. (2020) · Genes & Development · doi:10.1101/gad.332494.119 · Cited by 142 · see citing works
Suetterlin, P., Hurley, S., Mohan, C., Riegman, K. L. H., Pagani, M., Caruso, A., Ellegood, J., Galbusera, A., Crespo‐Enríquez, I., Michetti, C., et al. (2018) · Cerebral Cortex · doi:10.1093/cercor/bhy058 · Cited by 128 · see citing works
Self-citationSilverman, J. L., Thurm, A. E., Ethridge, S. B., Soller, M. M., Petkova, S. P., Abel, T. G., Bauman, M. D., Brodkin, E. S., Harony‐Nicolas, H., Wöhr, M., et al. (2022) · Genes Brain & Behavior · doi:10.1111/gbb.12803 · Cited by 127 · see citing works
Self-citationRigor and reproducibility in rodent behavioral research
Gulinello, M. E., Mitchell, H. A., Chang, Q., O’Brien, W. T., Zhou, Z., Abel, T. G., Wang, L., Corbin, J. G., Veeraragavan, S., Samaco, R. C., et al. (2018) · Neurobiology of Learning and Memory · doi:10.1016/j.nlm.2018.01.001 · Cited by 116 · see citing works
Self-citationLam, M., Hill, W. D., Trampush, J. W., Yu, J., Knowles, E., Davies, G., Stahl, E. A., Huckins, L. M., Liewald, D. C. M., Djurovic, S., et al. (2019) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2019.06.012 · Cited by 113 · see citing works
Mossink, B., Negwer, M., Schubert, D., & Nadif Kasri, N. (2021) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-020-03714-5 · Cited by 114 · see citing works
Whole-brain comparison of rodent and human brains using spatial transcriptomics
Beauchamp, A., Yee, Y., Darwin, B. C., Raznahan, A., Mars, R. B., & Lerch, J. P. (2022) · eLife · doi:10.7554/elife.79418 · Cited by 111 · see citing works
Self-citationGazestani, V., Pramparo, T., Nalabolu, S. R., Kellman, B. P., Murray, S. S., Lopez, L., Pierce, K., Courchesne, E., & Lewis, N. E. (2019) · Nature Neuroscience · doi:10.1038/s41593-019-0489-x · Cited by 109 · see citing works
Prenatal environmental stressors impair postnatal microglia function and adult behavior in males
Block, C. L., Eroglu, O., Mague, S. D., Smith, C. J. W., Ceasrine, A. M., Sriworarat, C., Blount, C., Beben, K. A., Malacon, K. E., Ndubuizu, N., et al. (2022) · Cell Reports · doi:10.1016/j.celrep.2022.111161 · Cited by 102 · see citing works
Dysfunction of the corticostriatal pathway in autism spectrum disorders
Li, W., & Pozzo‐Miller, L. D. (2019) · Journal of Neuroscience Research · doi:10.1002/jnr.24560 · Cited by 106 · see citing works
Pathogenic POGZ mutation causes impaired cortical development and reversible autism-like phenotypes
Matsumura, K., Seiriki, K., Okada, S., Nagase, M., Ayabe, S., Yamada, I., Furuse, T., Shibuya, H., Yasuda, Y., Yamamori, H., et al. (2020) · Nature Communications · doi:10.1038/s41467-020-14697-z · Cited by 106 · see citing works
Berg, E. L., Copping, N. A., Rivera, J. K., Pride, M. C., Careaga, M., Bauman, M. D., Berman, R. F., Lein, P. J., Harony‐Nicolas, H., Buxbaum, J. D., et al. (2018) · Autism Research · doi:10.1002/aur.1925 · Cited by 93 · see citing works
Self-citationVilla, C. E., Cheroni, C., Dotter, C. P., López-Tóbon, A., Oliveira, B., Sacco, R., Yahya, A. Ç., Morandell, J., Gabriele, M., Tavakoli, M. R., et al. (2022) · Cell Reports · doi:10.1016/j.celrep.2022.110615 · Cited by 92 · see citing works
Autism-associated CHD8 deficiency impairs axon development and migration of cortical neurons
Xu, Q., Liu, Y.-Y., Wang, X., Tan, G., Li, H., Hulbert, S. W., Li, C., Hu, C.-C., Xiong, Z., Xu, X., et al. (2018) · Molecular Autism · doi:10.1186/s13229-018-0244-2 · Cited by 89 · see citing works
Yu, Y., Zhang, B., Ji, P., Zuo, Z., Huang, Y., Wang, N., Liu, C., Liu, S., & Zhao, F. (2022) · Nature Communications · doi:10.1038/s41467-022-28746-2 · Cited by 89 · see citing works
Copping, N. A., Christian, S., Ritter, D., Islam, M. S., Buscher, N., Żółkowska, D., Pride, M. C., Berg, E. L., LaSalle, J. M., Ellegood, J., et al. (2017) · Human Molecular Genetics · doi:10.1093/hmg/ddx289 · Cited by 88 · see citing works
Self-citationCederquist, G., Tchieu, J. H., Callahan, S. J., Ramnarine, K., Ryan, S. D., Zhang, C., Rittenhouse, C. A., Zeltner, N., Chung, S. Y., Zhou, T., et al. (2020) · Cell stem cell · doi:10.1016/j.stem.2020.06.004 · Cited by 85 · see citing works
Chd2 Is Necessary for Neural Circuit Development and Long-Term Memory
Kim, Y. J., Khoshkhoo, S., Frankowski, J. C., Zhu, B., Abbasi, S., Lee, S., Wu, Y. E., & Hunt, R. F. (2018) · Neuron · doi:10.1016/j.neuron.2018.09.049 · Cited by 76 · see citing works
Invited Review: Epigenetics in neurodevelopment
Salinas, R. D., Connolly, D. R., & Song, H. (2020) · Neuropathology and Applied Neurobiology · doi:10.1111/nan.12608 · Cited by 81 · see citing works
Understanding autism spectrum disorders with animal models: applications, insights, and perspectives
Zhu, L., 昆明650500,中国, 云., Zhu, Y., Gu, L., & Cheng, Y. (2021) · 动物学研究 · doi:10.24272/j.issn.2095-8137.2021.251 · Cited by 84 · see citing works
Bertacchi, M., Romano, A. L., Loubat, A., Mau‐Them, F. T., Willems, M., Faivre, L. O., Kien, P. K. V., Perrin, L., Devillard, F., Sorlin, A., et al. (2020) · The EMBO Journal · doi:10.15252/embj.2019104163 · Cited by 74 · see citing works
Christian, D. L., Wu, D. Y., Martin, J. R., Moore, J. R., Liu, Y. R., Clemens, A. W., Nettles, S. A., Kirkland, N. M., Papouin, T., Hill, C. A., et al. (2020) · Cell Reports · doi:10.1016/j.celrep.2020.108416 · Cited by 78 · see citing works
Arid1b Haploinsufficiency Causes Abnormal Brain Gene Expression and Autism-Related Behaviors in Mice
Shibutani, M., Horii, T., Shoji, H., Morita, S., Kimura, M., Terawaki, N., Miyakawa, T., & Hatada, I. (2017) · International Journal of Molecular Sciences · doi:10.3390/ijms18091872 · Cited by 72 · see citing works
Cognitive deficits in the Snord116 deletion mouse model for Prader-Willi syndrome
Adhikari, A., Copping, N. A., Onaga, B., Pride, M. C., Coulson, R. L., Yang, M., Yasui, D. H., LaSalle, J. M., & Silverman, J. L. (2018) · Neurobiology of Learning and Memory · doi:10.1016/j.nlm.2018.05.011 · Cited by 76 · see citing works
Self-citationCrescenzo, A. H. D., Panoutsopoulos, A. A., Tat, L., Schaaf, Z. A., Racherla, S., Henderson, L., Leung, K., Greene, N. D. E., Green, R., & Zarbalis, K. S. (2020) · Cerebral Cortex · doi:10.1093/cercor/bhaa248 · Cited by 73 · see citing works
Self-citationAutism risk gene POGZ promotes chromatin accessibility and expression of clustered synaptic genes
Markenscoff-Papadimitriou, E., Binyameen, F., Whalen, S., Price, J., Lim, K. J., Ypsilanti, A. R., Catta-Preta, R., Pai, E. L.-L., Mu, X. N., Xu, D., et al. (2021) · Cell Reports · doi:10.1016/j.celrep.2021.110089 · Cited by 72 · see citing works
Self-citationDougnon, G., & Matsui, H. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23147550 · Cited by 71 · see citing works
The Mechanisms of CHD8 in Neurodevelopment and Autism Spectrum Disorders
Weissberg, O., & Elliott, E. (2021) · Genes · doi:10.3390/genes12081133 · Cited by 68 · see citing works
Sentinels of chromatin: chromodomain helicase DNA-binding proteins in development and diseasePreprint
Alendar, A., & Berns, A. J. M. (2021) · Genes & Development · doi:10.1101/gad.348897.121 · Cited by 65 · see citing works
Chen, J., Lambo, M. E., Ge, X., Dearborn, J. T., Liu, Y., McCullough, K. B., Swift, R. G., Tabachnick, D. R., Tian, L., Noguchi, K., et al. (2021) · Neuron · doi:10.1016/j.neuron.2021.09.009 · Cited by 61 · see citing works
Welniak–Kaminska, M., Fiedorowicz, M., Orzel, J., Bogorodzki, P., Modlinska, K., Stryjek, R., Chrzanowska, A., Pisula, W., & Grieb, P. (2019) · PLOS ONE · doi:10.1371/journal.pone.0215348 · Cited by 61 · see citing works
What we can learn from a genetic rodent model about autism
Möhrle, D., Fernández, M. C., Peñagarikano, O., Frick, A., Allman, B. L., & Schmid, S. (2019) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2019.12.015 · Cited by 59 · see citing works
Observational fear behavior in rodents as a model for empathy
Kim, A., Keum, S., & Shin, H. (2018) · Genes Brain & Behavior · doi:10.1111/gbb.12521 · Cited by 60 · see citing works
Berg, E. L., Pride, M. C., Petkova, S. P., Lee, R. D., Copping, N. A., Shen, Y., Adhikari, A., Fenton, T. A., Pedersen, L. R., Noakes, L. S., et al. (2020) · Translational Psychiatry · doi:10.1038/s41398-020-0720-2 · Cited by 58 · see citing works
Self-citationATP-Dependent Chromatin Remodeling During Cortical Neurogenesis
Sokpor, G., Castro-Hernández, R., Rosenbusch, J., Staiger, J. F., & Tuoc, T. (2018) · Frontiers in Neuroscience · doi:10.3389/fnins.2018.00226 · Cited by 60 · see citing works
Regulation of neuronal connectivity in the mammalian brain by chromatin remodeling
Goodman, J. V., & Bonni, A. (2019) · Current Opinion in Neurobiology · doi:10.1016/j.conb.2019.04.010 · Cited by 60 · see citing works
Oligodendrocyte dysfunction due to Chd8 mutation gives rise to behavioral deficits in mice
Kawamura, A., Katayama, Y., Nishiyama, M., Shoji, H., Tokuoka, K., Ueta, Y., Miyata, M., Isa, T., Miyakawa, T., Hayashi‐Takagi, A., et al. (2020) · Human Molecular Genetics · doi:10.1093/hmg/ddaa036 · Cited by 56 · see citing works
Small molecule modulators of chromatin remodeling: from neurodevelopment to neurodegeneration
Jiang, D., Li, T., Guo, C., Tang, T.-S., & Liu, H. (2023) · Cell & Bioscience · doi:10.1186/s13578-023-00953-4 · Cited by 54 · see citing works
Ellingford, R. A., Panasiuk, M. J., de Meritens, E. R., Shaunak, R., Naybour, L., Browne, L., Basson, M. A., & Andreae, L. C. (2021) · Molecular Psychiatry · doi:10.1038/s41380-021-01070-9 · Cited by 50 · see citing works
HDAC1 and HDAC2 Regulate Intermediate Progenitor Positioning to Safeguard Neocortical Development
Tang, T., Zhang, Y., Wang, Y., Cai, Z., Lu, Z., Li, L., Huang, R., Hagelkrüys, A., Matthias, P., Zhang, H., et al. (2019) · Neuron · doi:10.1016/j.neuron.2019.01.007 · Cited by 53 · see citing works
Genetic mechanisms of regression in autism spectrum disorder
Tammimies, K. (2019) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2019.04.022 · Cited by 53 · see citing works
Junior, H. P. D. O. S., Bhattacharya, A., Joseph, R. M., Smeester, L., Kuban, K., Marsit, C. J., O’Shea, T. M., & Fry, R. C. (2020) · Molecular Autism · doi:10.1186/s13229-020-00402-w · Cited by 50 · see citing works
The clinical presentation caused by truncating <i>CHD8</i> variants
Douzgou, S., Liang, H. W., Metcalfe, K., Somarathi, S., Tischkowitz, M., Mohamed, W., Kini, U., McKee, S., Yates, L., Bertoli, M., et al. (2019) · Clinical Genetics · doi:10.1111/cge.13554 · Cited by 52 · see citing works
The autism-associated protein CHD8 is required for cerebellar development and motor function
Kawamura, A., Katayama, Y., Kakegawa, W., Ino, D., Nishiyama, M., Yuzaki, M., & Nakayama, K. I. (2021) · Cell Reports · doi:10.1016/j.celrep.2021.108932 · Cited by 50 · see citing works
Amar, M., Pramod, A. B., Yu, N., Herrera, V. M., Qiu, L. R., Losada, P. M., Zhang, P., Trujillo, C. A., Ellegood, J., Urresti, J., et al. (2021) · Molecular Psychiatry · doi:10.1038/s41380-021-01052-x · Cited by 50 · see citing works
Self-citationAdhikari, A., Copping, N. A., Beegle, J. R., Cameron, D. L., Deng, P., O’Geen, H., Segal, D. J., Fink, K. D., Silverman, J. L., & Anderson, J. S. (2021) · Human Molecular Genetics · doi:10.1093/hmg/ddab104 · Cited by 49 · see citing works
Self-citationMechanisms Underlying Circuit Dysfunction in Neurodevelopmental Disorders
Exposito-Alonso, D., & Rico, B. (2022) · Annual Review of Genetics · doi:10.1146/annurev-genet-072820-023642 · Cited by 49 · see citing works
O’Geen, H., Beitnere, U., Garcia, M. S., Adhikari, A., Cameron, D. L., Fenton, T. A., Copping, N. A., Deng, P., Lock, S., Halmai, J. A. N. M., et al. (2023) · Molecular Therapy · doi:10.1016/j.ymthe.2023.01.013 · Cited by 50 · see citing works
Self-citationNeuronal and glial cell number is altered in a cortical layer-specific manner in autism
Falcone, C., Mevises, N.-Y., Hong, T., Dufour, B. D., Chen, X., Noctor, S. C., & Martínez‐Cerdeño, V. (2021) · Autism · doi:10.1177/13623613211014408 · Cited by 47 · see citing works
Kissel, L. T., & Werling, D. M. (2022) · Biological Psychiatry · doi:10.1016/j.biopsych.2020.11.023 · Cited by 46 · see citing works
Mouse population genetics phenocopies heterogeneity of human Chd8 haploinsufficiency
Tabbaa, M., Knoll, A., & Levitt, P. (2023) · Neuron · doi:10.1016/j.neuron.2023.01.009 · Cited by 45 · see citing works
Regulatory genes and pathways disrupted in autism spectrum disorders
Ayhan, F., & Konopka, G. (2018) · Progress in Neuro-Psychopharmacology and Biological Psychiatry · doi:10.1016/j.pnpbp.2018.08.017 · Cited by 44 · see citing works
Moore, S. M., Seidman, J. S., Ellegood, J., Gao, R., Savchenko, A., Troutman, T. D., Abe, Y., Stender, J. D., Lee, D., Wang, S., et al. (2019) · Translational Psychiatry · doi:10.1038/s41398-018-0344-y · Cited by 45 · see citing works
Self-citationMRI to Assess Neurological Function
Nieman, B. J., van Eede, M. C., Spring, S., Dazai, J., Henkelman, R. M., & Lerch, J. P. (2018) · Current Protocols in Mouse Biology · doi:10.1002/cpmo.44 · Cited by 44 · see citing works
Self-citationCopping, N. A., Adhikari, A., Petkova, S. P., & Silverman, J. L. (2019) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2019.106547 · Cited by 40 · see citing works
Self-citationBerg, E. L., Ching, T. M., Bruun, D. A., Rivera, J. K., Careaga, M., Ellegood, J., Lerch, J. P., Wöhr, M., Lein, P. J., & Silverman, J. L. (2020) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-020-09342-1 · Cited by 43 · see citing works
Self-citationParallel functional testing identifies enhancers active in early postnatal mouse brain
Lambert, J. T., Su-Feher, L., Cichewicz, K., Warren, T. L., Zdilar, I., Wang, Y., Lim, K. J., Haigh, J., Morse, S. J., Canales, C. P., et al. (2021) · eLife · doi:10.7554/elife.69479 · Cited by 39 · see citing works
Self-citationCHD8 dosage regulates transcription in pluripotency and early murine neural differentiation
Sood, S., Weber, C. M., Hodges, H. C., Krokhotin, A., Shalizi, A., & Crabtree, G. R. (2020) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1921963117 · Cited by 42 · see citing works
Hurley, S., Mohan, C., Suetterlin, P., Ellingford, R. A., Riegman, K. L. H., Ellegood, J., Caruso, A., Michetti, C., Brock, O., Evans, R., et al. (2021) · Molecular Autism · doi:10.1186/s13229-020-00409-3 · Cited by 42 · see citing works
Self-citationWade, A. A., Lim, K. J., Catta-Preta, R., & Nord, A. S. (2019) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2018.00481 · Cited by 38 · see citing works
Self-citationChromatin Remodeler CHD8 in Autism and Brain Development
Hoffmann, A., & Spengler, D. (2021) · Journal of Clinical Medicine · doi:10.3390/jcm10020366 · Cited by 41 · see citing works
Abnormal electrophysiological phenotypes and sleep deficits in a mouse model of Angelman Syndrome
Copping, N. A., & Silverman, J. L. (2021) · Molecular Autism · doi:10.1186/s13229-021-00416-y · Cited by 39 · see citing works
Self-citationSequential perturbations to mouse corticogenesis following in utero maternal immune activation
Canales, C. P., Estes, M. L., Cichewicz, K., Angara, K., Aboubechara, J. P., Cameron, S., Prendergast, K., Su-Feher, L., Zdilar, I., Kreun, E. J., et al. (2021) · eLife · doi:10.7554/elife.60100 · Cited by 38 · see citing works
Self-citationMapping the landscape of social behavior
Klibaite, U., Li, T., Aldarondo, D. E., Akoad, J. F., Ölveczky, B. P., & Dunn, T. (2025) · Cell · doi:10.1016/j.cell.2025.01.044 · Cited by 39 · see citing works
Silverman, J. L., & Ellegood, J. (2018) · Current Opinion in Neurology · doi:10.1097/wco.0000000000000537 · Cited by 35 · see citing works
Self-citationExcitatory neuronal CHD8 in the regulation of neocortical development and sensory-motor behaviors
Kweon, H., Jung, W. B., Im, G. H., Ryoo, J., Lee, J.-H., Do, H., Choi, Y., Song, Y.-H., Jung, H., Park, H., et al. (2021) · Cell Reports · doi:10.1016/j.celrep.2021.108780 · Cited by 36 · see citing works
Self-citationChd8 haploinsufficiency impairs early brain development and protein homeostasis later in life
Jiménez, J. A., Ptacek, T., Tuttle, A. H., Schmid, R. S., Moy, S. S., Simon, J. M., & Zylka, M. J. (2020) · Molecular Autism · doi:10.1186/s13229-020-00369-8 · Cited by 36 · see citing works
Clinical Phenotypes of Carriers of Mutations in CHD8 or Its Conserved Target Genes
Beighley, J. S., Hudac, C. M., Arnett, A. B., Peterson, J. L., Gerdts, J. A., Wallace, A. S., Mefford, H. C., Hoekzema, K., Turner, T. N., O’Roak, B. J., et al. (2019) · Biological Psychiatry · doi:10.1016/j.biopsych.2019.07.020 · Cited by 33 · see citing works
Molecular causes of sex‐specific deficits in rodent models of neurodevelopmental disorders
Mossa, A., & Manzini, M. C. (2019) · Journal of Neuroscience Research · doi:10.1002/jnr.24577 · Cited by 36 · see citing works
Rare and de novo coding variants in chromodomain genes in Chiari I malformation
Sadler, B. E., Wilborn, J., Antunes, L., Kuensting, T., Hale, A. T., Gannon, S. R., McCall, K., Cruchaga, C., Harms, M. B., Voisin, N., et al. (2020) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2020.12.001 · Cited by 35 · see citing works
Shi, X., Lu, C., Corman, A., Nikish, A., Zhou, Y., Platt, R. J., Iossifov, I. H., Zhang, F., Pan, J. Q., & Sanjana, N. E. (2023) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2023.09.004 · Cited by 34 · see citing works
Twenty years of discoveries emerging from mouse models of autism
Crawley, J. N. (2023) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2023.105053 · Cited by 32 · see citing works
Self-citationBerg, E. L., Pedersen, L. R., Pride, M. C., Petkova, S. P., Patten, K. T., Valenzuela, A. E., Wallis, C., Bein, K. J., Wexler, A. S., Lein, P. J., et al. (2020) · Translational Psychiatry · doi:10.1038/s41398-020-00978-0 · Cited by 33 · see citing works
Self-citationEllegood, J., Petkova, S. P., Kinman, A. I., Qiu, L. R., Adhikari, A., Wade, A. A., Fernandes, D., Lindenmaier, Z., Creighton, A., Nutter, L. M. J., et al. (2021) · Molecular Autism · doi:10.1186/s13229-021-00432-y · Cited by 33 · see citing works
Self-citationConvergence of spectrums: neuronal gene network states in autism spectrum disorder
Sullivan, J. M., Rubeis, S. D., & Schaefer, A. (2019) · Current Opinion in Neurobiology · doi:10.1016/j.conb.2019.04.011 · Cited by 30 · see citing works
Linking Autism Risk Genes to Disruption of Cortical Development
García-Forn, M., Boitnott, A., Akpinar, Z., & Rubeis, S. D. (2020) · Cells · doi:10.3390/cells9112500 · Cited by 32 · see citing works
Weigel, B., Tegethoff, J. F., Grieder, S. D., Lim, B., Nagarajan, B., Liu, Y.-C., Truberg, J., Papageorgiou, D., Adrian-Segarra, J. M., Schmidt, L. K., et al. (2023) · Molecular Psychiatry · doi:10.1038/s41380-023-01959-7 · Cited by 31 · see citing works
Molecular mechanisms for targeted ASD treatments
Basilico, B., Morandell, J., & Novarino, G. (2020) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2020.06.004 · Cited by 30 · see citing works
PDZD8 Disruption Causes Cognitive Impairment in Humans, Mice, and Fruit Flies
Al-Amri, A. H., Armstrong, P., Amici, M., Ligneul, C., Rouse, J. L., El‐Asrag, M. E., Pantiru, A., Vancollie, V. E., Ng, H. W. Y., Ogbeta, J. A., et al. (2022) · Biological Psychiatry · doi:10.1016/j.biopsych.2021.12.017 · Cited by 29 · see citing works
Self-citationEpigenetic cues modulating the generation of cell‐type diversity in the cerebral cortex
Amberg, N., Laukoter, S., & Hippenmeyer, S. (2018) · Journal of Neurochemistry · doi:10.1111/jnc.14601 · Cited by 28 · see citing works
Experimental Models to Study Autism Spectrum Disorders: hiPSCs, Rodents and Zebrafish
Pensado‐López, A., Veiga-Rúa, S., Carracedo, Á., Allegue, C., & Sanchez, L. E. (2020) · Genes · doi:10.3390/genes11111376 · Cited by 31 · see citing works
Hui, K. K., Katayama, Y., Nakayama, K. I., Nomura, J., & Sakurai, T. (2018) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2018.08.001 · Cited by 30 · see citing works
CHD8 mutations increase gliogenesis to enlarge brain size in the nonhuman primate
Li, B., Zhao, H., Tu, Z., Yang, W., Han, R., Wang, L., Luo, X., Pan, M., Chen, X., Zhang, J., et al. (2023) · Cell Discovery · doi:10.1038/s41421-023-00525-3 · Cited by 30 · see citing works
Epigenetic and Cellular Diversity in the Brain through Allele-Specific Effects
Huang, W.-C., Bennett, K., & Gregg, C. J. (2018) · Trends in Neurosciences · doi:10.1016/j.tins.2018.07.005 · Cited by 27 · see citing works
CHD8 suppression impacts on histone H3 lysine 36 trimethylation and alters RNA alternative splicing
Kerschbamer, E., Arnoldi, M., Tripathi, T., Pellegrini, M., Maturi, S., Erdin, S., Salviato, E., Leva, F. D., Sebestyén, E., Dassi, E., et al. (2022) · Nucleic Acids Research · doi:10.1093/nar/gkac1134 · Cited by 27 · see citing works
Genç, Ö., An, J., Fetter, R. D., Kulik, Y. D., Zunino, G., Sanders, S., & Davis, G. W. (2020) · eLife · doi:10.7554/elife.55775 · Cited by 26 · see citing works
Dugger, S. A., Dhindsa, R. S., Sampaio, G. L. D. A., Ressler, A. K., Rafikian, E. E., Petri, S., Letts, V. A., Teoh, J. J., Ye, J., Colombo, S., et al. (2023) · PLoS Genetics · doi:10.1371/journal.pgen.1010952 · Cited by 29 · see citing works
Megagiannis, P., Yuan, M., Yan, R., Yuan, L., Wilde, J. J., Eckersberg, H., Suresh, R., Tan, X., Chen, H., Farmer, W. T., et al. (2024) · Cell Reports · doi:10.1016/j.celrep.2024.114637 · Cited by 25 · see citing works
Ji, P., Wang, N., Yu, Y., Zhu, J., Zuo, Z., Zhang, B., & Zhao, F. (2025) · Cell Genomics · doi:10.1016/j.xgen.2025.100768 · Cited by 28 · see citing works
Oxytocin ameliorates impaired social behavior in a Chd8 haploinsufficiency mouse model of autism
Михайлович, Ч. С., Gerasimenko, M., Yuhi, T., Furuhara, K., Tsuji, C., Yokoyama, S., Nakayama, K. I., Nishiyama, M., & Higashida, H. (2021) · BMC Neuroscience · doi:10.1186/s12868-021-00631-6 · Cited by 24 · see citing works
Haigh, J., Adhikari, A., Copping, N. A., Stradleigh, T. W., Wade, A. A., Catta-Preta, R., Su-Feher, L., Zdilar, I., Morse, S. J., Fenton, T. A., et al. (2021) · Genome Medicine · doi:10.1186/s13073-021-00884-0 · Cited by 24 · see citing works
Self-citationNpas3 deficiency impairs cortical astrogenesis and induces autistic-like behaviors
Li, Y., Fan, T., Li, X., Liu, L., Mao, F., Li, Y., Miao, Z., Zeng, C., Song, W., Pan, J., et al. (2022) · Cell Reports · doi:10.1016/j.celrep.2022.111289 · Cited by 25 · see citing works
Autism‐linked CHD gene expression patterns during development predict multi‐organ disease phenotypes
Kasah, S., Oddy, C., & Basson, M. A. (2018) · Journal of Anatomy · doi:10.1111/joa.12889 · Cited by 25 · see citing works
Kaushik, G., & Thomas, M. A. (2019) · Sustainable Chemistry and Pharmacy · doi:10.1016/j.scp.2019.100148 · Cited by 24 · see citing works
Self-citation
- Authors
- Gompers, A. L., Su-Feher, L., Ellegood, J., Copping, N. A., Riyadh, M. A., Stradleigh, T. W., Pride, M. C., Schaffler, M. D., Wade, A. A., Catta-Preta, R., Zdilar, I., Louis, S., Kaushik, G., Mannion, B. J., Plajzer-Frick, I., Afzal, V., Visel, A., Pennacchio, L. A., Dickel, D. E., Lerch, J. P., Crawley, J. N., Zarbalis, K. S., Silverman, J. L., & Nord, A. S.
- Affiliations
- University of California, Davis (US)
- Hospital for Sick Children (CA)
- Shriners Hospitals for Children - Northern California (US)
- Lawrence Berkeley National Laboratory (US)
- University of Toronto (CA)
- Corresponding author
- Nord, Alex S
- ORCID
- Su-Feher, Linda
- Ellegood, Jacob
- Riyadh, M Asrafuzzaman
- Stradleigh, Tyler W
- Schaffler, Melanie D
- Wade, A Ayanna
- Catta-Preta, Rinaldo
- Zdilar, Iva
- Louis, Shreya
- Mannion, Brandon J
- Afzal, Veena
- Visel, Axel
- Pennacchio, Len A
- Dickel, Diane E
- Lerch, Jason P
- Crawley, Jacqueline N
- Zarbalis, Konstantinos S
- Silverman, Jill L
- Nord, Alex S
- Venue
- Nature Neuroscience
- Published
- 2017-06-26
- Volume
- 20
- Issue
- 8
- Pages
- 1062-1073
- ISSN
- 1097-6256 (ISSN-L)
- 1546-1726
- PMC
- PMC6008102
- OpenAlex
- W2687519416
- Cited by
- 266
- References
- 98
- Citations by year
- 2026: 18 · 2025: 22 · 2024: 23 · 2023: 21 · 2022: 21 · 2021: 52 · 2020: 48 · 2019: 27 · 2018: 26 · 2017: 8
- FWCI
- 19.79
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Neuroscience (publishedVersion)
- bioRxiv (Cold Spring Harbor Laboratory) (acceptedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- OSTI OAI (U.S. Department of Energy Office of Scientific and Technical Information) (submittedVersion)
- Funders
- U.S. Department of Energy (-AC02-05CH11231, 05CH11231, DE AC02 05CH11231, Contract DE-AC02-05CH11231., DE-AC02-)
- University of California Berkeley (DE-AC02-05CH11231)
- Ontario Brain Institute
- Fondation Brain Canada
- MIND Institute, University of California, Davis (U54 HD 079125, HD079125)
- Conselho Nacional de Desenvolvimento Científico e Tecnológico (DE-AC02-05CH11231)
- National Institutes of Health (DE-AC02–05CH11231, GM008799, GM119831, GM007377)
- University of California, Davis (T32-GM008799, U54 HD079125, GM007377)
- Intellectual and Developmental Disabilities Research Center (U54-HD079125)
- Ciência sem Fronteiras
- National Heart, Lung, and Blood Institute (R24HL123879, UM1HL098166)
- National Human Genome Research Institute (U54HG006997, R01HG003988)
- National Institute of General Medical Sciences (T32GM008799, T32GM007377, DE-AC02-05CH11231, GM119831, GM007377, GM008799, R35GM119831)
- National Institute of Neurological Disorders and Stroke (R01NS085709)
- National Institute of Dental and Craniofacial Research (U01DE024427)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (U54HD079125)
- Lawrence Berkeley National Laboratory (UM1HL098166, AC02‐05CH11231, DE-AC02-05CH11231, R24HL123879, U54HG006997, R01HG003988, 05CH11231, U01DE024427)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Keywords
- CHD8, haploinsufficiency, autism spectrum disorder, brain development, chromatin remodeling, cognitive impairment, regional brain volume, neurogenesis, synaptic processes, neuroimmune signaling, RNA processing, alternative splicing, neuronal proliferation, promoter binding
- MeSH terms
- Animals, Brain, Chromatin, DNA-Binding Proteins, Mice, Transgenic, Mutation, Phenotype, Transcription Factors, Gene Expression Regulation, Developmental, Cell Cycle Proteins, Gene Regulatory Networks, Haploinsufficiency
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