The DOI matches its Crossref record; 98 of the 98 references it cites were found in a registry or an index.
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.
Overview
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
Verification
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?
In the citing paper
“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.
Citations
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
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
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
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
Robinson, M. D., McCarthy, D. J., & Smyth, G. K. (2010) · Bioinformatics · doi:10.1093/bioinformatics/btp616 · Cited by 41,364
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
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
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
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
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
Flagged first, then by citations
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
Wang, X., Wang, B., Wu, C., Wang, J., & Sun, M. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms24031819 · Cited by 305
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 171
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 159
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
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
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 143
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 132
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 133
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 121
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 115
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
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 122
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 111
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 108
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 114
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 107
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 96
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
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 92
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 92
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 86
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 89
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 81
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 90
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 91
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
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 84
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
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
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 79
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 76
Self-citationDougnon, G., & Matsui, H. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23147550 · Cited by 76
The Mechanisms of CHD8 in Neurodevelopment and Autism Spectrum Disorders
Weissberg, O., & Elliott, E. (2021) · Genes · doi:10.3390/genes12081133 · Cited by 72
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 69
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 65
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
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 60
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 63
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 61
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 64
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 64
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 58
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
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 53
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 54
Genetic mechanisms of regression in autism spectrum disorder
Tammimies, K. (2019) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2019.04.022 · Cited by 57
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 52
The clinical presentation caused by truncating CHD8 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
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 53
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 51
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 52
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
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 51
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 50
Kissel, L. T., & Werling, D. M. (2022) · Biological Psychiatry · doi:10.1016/j.biopsych.2020.11.023 · Cited by 46
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
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 46
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
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
Self-citationCopping, N. A., Adhikari, A., Petkova, S. P., & Silverman, J. L. (2019) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2019.106547 · Cited by 43
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
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
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 43
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
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
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
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 42
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 43
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
Silverman, J. L., & Ellegood, J. (2018) · Current Opinion in Neurology · doi:10.1097/wco.0000000000000537 · Cited by 35
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
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 37
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 34
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 37
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 37
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 35
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 33
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
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
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 32
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 35
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
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
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
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 29
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 34
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 31
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 31
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
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
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 28
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 30
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 26
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 29
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
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
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
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
Kaushik, G., & Thomas, M. A. (2019) · Sustainable Chemistry and Pharmacy · doi:10.1016/j.scp.2019.100148 · Cited by 24
Self-citation
Metadata
- 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
