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Allele-specific open chromatin in human iPSC neurons elucidates functional disease variants
Open accessAbstract
Effects of allele-specific open chromatin: Genetic variants in noncoding regions of the genome may underlie the development of disease. However, we are just beginning to tease apart the function of such variants associated with neuropsychiatric disease. Using five types of neural progenitor cells derived from 20 human induced pluripotent stem cell lines, Zhang et al. looked at allele-specific open chromatin (ASoC) variants. Many ASoC variants overlapped with genomic elements, such as transcription factor binding sites, and loci identified in genome-wide association studies for neurological traits. From the experimental and computational analyses, they identified single-nucleotide polymorphisms and illuminate how one schizophrenia-associated variant affects neurodevelopment. Science , this issue p. 561
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“eSNP-karyotyping was performed for all cell lines used to eliminate potential chromosomal abnormalities, as previously described20,21.”
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The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
McKenna, A., Hanna, M., Banks, E., Sivachenko, A., Cibulskis, K., Kernytsky, A., Garimella, K., Altshuler, D., Gabriel, S., Daly, M., et al. (2010) · Genome Research · doi:10.1101/gr.107524.110 · Cited by 27,895
Heinz, S., Benner, C., Spann, N., Bertolino, E., Lin, Y. C., Laslo, P., Cheng, J. X., Murre, C., Singh, H., & Glass, C. K. (2010) · Molecular Cell · doi:10.1016/j.molcel.2010.05.004 · Cited by 13,382
Genome engineering using the CRISPR-Cas9 system
Ran, F. A., Hsu, P. D., Wright, J., Agarwala, V., Scott, D. A., & Zhang, F. (2013) · Nature Protocols · doi:10.1038/nprot.2013.143 · Cited by 11,133
Near-optimal probabilistic RNA-seq quantification
Bray, N. L., Pimentel, H., Melsted, P., & Pachter, L. (2016) · Nature Biotechnology · doi:10.1038/nbt.3519 · Cited by 9,723
Statistical significance for genomewide studies
Storey, J. D., & Tibshirani, R. (2003) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1530509100 · Cited by 9,692
Biological insights from 108 schizophrenia-associated genetic loci
Schizophrenia Working Group of the Psychiatric Genomics Consortium (2014) · Nature · doi:10.1038/nature13595 · Cited by 7,577
Integrative analysis of 111 reference human epigenomes
Roadmap Epigenomics Consortium, Kundaje, A., Meuleman, W., Ernst, J., Bilenky, M., Yen, A., Heravi-Moussavi, A., Kheradpour, P., Zhang, Z., Wang, J., et al. (2015) · Nature · doi:10.1038/nature14248 · Cited by 6,368
Mendelian randomization: genetic anchors for causal inference in epidemiological studies
Davey Smith, G., & Hemani, G. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddu328 · Cited by 4,677
Genetic studies of body mass index yield new insights for obesity biology
Study, T. L. C., Locke, A. E., The ADIPOGen Consortium, The AGEN-BMI Working Group, The CARDIOGRAMplusC4D Consortium, The CKDGen Consortium, The, G. L. G. C., The, I. C. B. P., The MAGIC Investigators, The MuTHER Consortium, et al. (2015) · Nature · doi:10.1038/nature14177 · Cited by 4,534
Self-citationGREAT improves functional interpretation of cis-regulatory regions
McLean, C. Y., Bristor, D., Hiller, M., Clarke, S. L., Schaar, B. T., Lowe, C. B., Wenger, A. M., & Bejerano, G. (2010) · Nature Biotechnology · doi:10.1038/nbt.1630 · Cited by 4,502
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Sudwarts, A., Ramesha, S., Gao, T., Ponnusamy, M., Wang, S., Hansen, M. T., Kozlova, A., Bitarafan, S., Kumar, P., Beaulieu‐Abdelahad, D., et al. (2022) · Molecular Neurodegeneration · doi:10.1186/s13024-022-00535-x · Cited by 110
Self-citationShi, X., Li, Y., Yuan, Q., Tang, S., Guo, S., Zhang, Y., He, J., Zhang, X., Han, M., Liu, Z., et al. (2022) · Nature Communications · doi:10.1038/s41467-022-29857-6 · Cited by 103
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Lu, X., Chen, X., Forney, C. R., Donmez, O. A., Miller, D., Parameswaran, S., Hong, T., Huang, Y., Pujato, M. A., Cazares, T. A., et al. (2021) · Nature Communications · doi:10.1038/s41467-021-21854-5 · Cited by 77
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Cleary, S., & Seoighe, C. (2021) · Annual Review of Biomedical Data Science · doi:10.1146/annurev-biodatasci-021621-122219 · Cited by 73
Seah, C., Breen, M. S., Rusielewicz, T., Bader, H. N., Xu, C., Hunter, C. J., McCarthy, B., Deans, P. J. M., Chattopadhyay, M., Goldberg, J., et al. (2022) · Nature Neuroscience · doi:10.1038/s41593-022-01161-y · Cited by 69
Schizophrenia genomics: genetic complexity and functional insights
Sullivan, P. F., Yao, S., & Hjerling‐Leffler, J. (2024) · Nature reviews. Neuroscience · doi:10.1038/s41583-024-00837-7 · Cited by 64
Brain Lipids and Lipid Droplet Dysregulation in Alzheimer’s Disease and Neuropsychiatric Disorders
Zhao, X., Zhang, S., Sanders, A. R., & Duan, J. (2023) · Complex Psychiatry · doi:10.1159/000535131 · Cited by 54
Self-citationMassively parallel techniques for cataloguing the regulome of the human brain
Townsley, K. G., Brennand, K., & Huckins, L. M. (2020) · Nature Neuroscience · doi:10.1038/s41593-020-00740-1 · Cited by 52
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“…identify functional LOAD GWAS risk variants, we performed an assay for transposase-accessible chromatin using sequencing (ATAC–seq) and ascertained the allelic imbalance of chromatin accessibility (that is, ASoC) 20,21 at heterozygous LOAD-risk single-nucleotide polymorphism (SNP) sites (Fig.”
InfluentialSelf-citationWang, L., Mirabella, V. R., Dai, R., Su, X. Y., Xu, R., Jadali, A., Bernabucci, M., Singh, I., Chen, Y., Tian, J., et al. (2022) · Molecular Psychiatry · doi:10.1038/s41380-022-01834-x · Cited by 53
Self-citationSystematic investigation of allelic regulatory activity of schizophrenia-associated common variants
McAfee, J. C., Lee, S., Lee, J., Bell, J., Krupa, O., Davis, J. E., Insigne, K. D., Bond, M. L., Zhao, N., Boyle, A. P., et al. (2023) · Cell Genomics · doi:10.1016/j.xgen.2023.100404 · Cited by 53
Li, M., Li, Y., Qin, H., Tubbs, J. D., Li, M., Qiao, C., Lin, J., Li, Q., Fan, F., Gou, M., et al. (2020) · Molecular Psychiatry · doi:10.1038/s41380-020-00968-0 · Cited by 46
Massively parallel functional dissection of schizophrenia-associated noncoding genetic variants
Rummel, C. K., Gagliardi, M., Ahmad, R., Herholt, A., Jiménez-Barrón, L. T., Murek, V., Weigert, L., Hausruckinger, A., Maidl, S., Hauger, B., et al. (2023) · Cell · doi:10.1016/j.cell.2023.09.015 · Cited by 49
Genetic regulation of cell type–specific chromatin accessibility shapes brain disease etiology
Zeng, B., Bendl, J. M., Deng, C., Lee, D., Misir, R., Reach, S. M., Kleopoulos, S. P., Auluck, P. K., Marenco, S., Lewis, D. A., et al. (2024) · Science · doi:10.1126/science.adh4265 · Cited by 48
Targeting epigenetic dysregulation in autism spectrum disorders
Herrera, M. L., Paraíso‐Luna, J., Bustos-Martínez, I., & Barco, Á. (2024) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2024.06.004 · Cited by 45
Focus on your locus with a massively parallel reporter assay
McAfee, J. C., Bell, J., Krupa, O., Matoba, N., Stein, J. L., & Won, H. (2022) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-022-09461-x · Cited by 40
Publicly Available hiPSC Lines with Extreme Polygenic Risk Scores for Modeling Schizophrenia
Dobrindt, K., Zhang, H., Das, D., Abdollahi, S., Prorok, T., Ghosh, S. D., Weintraub, S. J., Genovese, G., Powell, S. K., Lund, A. N., et al. (2020) · Complex Psychiatry · doi:10.1159/000512716 · Cited by 32
Self-citationHu, W., Jiang, C., Kim, M., Yang, W., Zhu, K., Guan, D., Lv, W., Xiao, Y., Wilson, J. R., Rader, D. J., et al. (2021) · Cell Metabolism · doi:10.1016/j.cmet.2021.06.004 · Cited by 38
Evaluating brain structure traits as endophenotypes using polygenicity and discoverability
Matoba, N., Love, M. I., & Stein, J. L. (2020) · Human Brain Mapping · doi:10.1002/hbm.25257 · Cited by 32
Functional characterization of human genomic variation linked to polygenic diseases
Fabo, T., & Khavari, P. A. (2023) · Trends in Genetics · doi:10.1016/j.tig.2023.02.014 · Cited by 32
Chang, H., Cai, X. M., Li, H., Liu, W.-P., Zhao, L., Zhang, C., Wang, J., Liu, J.-W., Ma, X.-L., Wang, L., et al. (2020) · Biological Psychiatry · doi:10.1016/j.biopsych.2020.09.016 · Cited by 29
Sey, N. Y. A., Hu, B., Iskhakova, M., Lee, S., Sun, H., Shokrian, N., Hutta, G. B., Marks, J. A., Quach, B. C., Johnson, E. O., et al. (2022) · Molecular Psychiatry · doi:10.1038/s41380-022-01558-y · Cited by 28
Zhang, B., Zhang, Z., Koeken, V. A. C. M., Kumar, S., Aillaud, M., Tsay, H.-C., Liu, Z., Kraft, A. R. M., Soon, C. F., Odak, I., et al. (2022) · Cell Genomics · doi:10.1016/j.xgen.2022.100232 · Cited by 26
Zhang, S., Zhang, H., Forrest, M. P., Zhou, Y., Sun, X., Bagchi, V. A., Kozlova, A., Santos, M. D., Piguel, N. H., Dionisio, L. E., et al. (2023) · Cell Genomics · doi:10.1016/j.xgen.2023.100399 · Cited by 26
Self-citationKozlova, A., Zhang, S., Kotlar, A., Jamison, B., Zhang, H., Shi, S. Q. Z., Forrest, M. P., McDaid, J., Cutler, D. J., Epstein, M. P., et al. (2022) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2022.07.001 · Cited by 24
Self-citationLi, Q., Wang, Z., Zong, L., Ye, L., Ye, J., Ou, H., Jiang, T., Guo, B., Yang, Q., Liang, W., et al. (2021) · Molecular Psychiatry · doi:10.1038/s41380-021-01126-w · Cited by 24
Silveira, P. P., & Meaney, M. J. (2023) · Neurobiology of Disease · doi:10.1016/j.nbd.2023.106008 · Cited by 26
Guo, M. G., Reynolds, D. L., Ang, C. E., Liu, Y., Zhao, Y., Donohue, L. K. H., Siprashvili, Z., Yang, X., Yoo, Y., Mondal, S., et al. (2023) · Nature Genetics · doi:10.1038/s41588-023-01533-5 · Cited by 23
Gerstner, N., Fröhlich, A. S., Matosin, N., Gagliardi, M., Cruceanu, C., Ködel, M., Rex‐Haffner, M., Tu, X., Mostafavi, S., Ziller, M. J., et al. (2025) · Science Advances · doi:10.1126/sciadv.adq2290 · Cited by 23
Lewis, E. M. A., Kaushik, K., Sandoval, L. A., Antony, I., Dietmann, S., & Kroll, K. L. (2021) · Neurochemistry International · doi:10.1016/j.neuint.2021.105039 · Cited by 25
Clay, S. M., Schoettler, N., Goldstein, A. M., Carbonetto, P. S., Dapas, M., Altman, M. C., Rosasco, M. G., Gern, J. E., Jackson, D. J., Im, H. K., et al. (2022) · Genome Medicine · doi:10.1186/s13073-022-01058-2 · Cited by 20
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Shook, M., Lu, X., Chen, X., Parameswaran, S., Edsall, L., Trimarchi, M. P., Ernst, K., Granitto, M., Forney, C. R., Donmez, O. A., et al. (2024) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2023.12.008 · Cited by 19
Yao, Y., Guo, W., Zhang, S., Yu, H., Yan, H., Zhang, H., Sanders, A. R., Yue, W., & Duan, J. (2021) · iScience · doi:10.1016/j.isci.2021.102785 · Cited by 17
Self-citationGedik, H., Nguyen, T. H., Peterson, R. E., Chatzinakos, C., Riley, B. P., Vladimirov, V. I., & Bacanu, S. (2023) · Frontiers in Genetics · doi:10.3389/fgene.2023.1191264 · Cited by 16
Choi, W., Hwang, J.-H., Cho, A., Lee, A., Jung, I., Cho, S., Kim, L. K., & Kim, Y.-J. (2020) · Molecules and Cells · doi:10.14348/molcells.2020.0207 · Cited by 17
Zhao, X., Li, Y., Zhang, S., Sudwarts, A., Zhang, H., Kozlova, A., Moulton, M. J., Goodman, L. D., Pang, Z. P., Sanders, A. R., et al. (2025) · Molecular Neurodegeneration · doi:10.1186/s13024-025-00840-1 · Cited by 18
Self-citationZhang, H., McCarroll, A., Peyton, L., de León‐Guerrero, S. D., Zhang, S., Gowda, P., Sirkin, D., ElAchwah, M., Duhe, A., Wood, W., et al. (2024) · Stem Cell Reports · doi:10.1016/j.stemcr.2024.08.003 · Cited by 15
Self-citationHighly sensitive single-cell chromatin accessibility assay and transcriptome coassay with METATAC
Wu, H., Li, X., Jian, F., Yisimayi, A., Zheng, Y., Tan, L., Xing, D., & Xie, X. S. (2022) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2206450119 · Cited by 14
Zhang, Y., Day, K., & Absher, D. M. (2022) · eLife · doi:10.7554/elife.72837 · Cited by 16
Ma, Y., Bendl, J. M., Hartley, B. J., Fullard, J. F., Abdelaal, R., Ho, S., Kosoy, R., Gochman, P., Rapoport, J. L., Hoffman, G. E., et al. (2023) · Biological Psychiatry · doi:10.1016/j.biopsych.2023.07.003 · Cited by 13
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Eapen, A., Parameswaran, S., Forney, C. R., Edsall, L., Miller, D., Donmez, O., Dunn, K. A., Lu, X., Granitto, M., Rowden, H., et al. (2022) · PLoS Genetics · doi:10.1371/journal.pgen.1009973 · Cited by 14
Wang, B., Starr, A. L., & Fraser, H. B. (2023) · eLife · doi:10.7554/elife.89594 · Cited by 30
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Ye, J., Huang, Z., Li, Q., Li, Z., Lan, Y., Wang, Z., Ni, C., Wu, X., Jiang, T., Li, Y., et al. (2023) · BMC Medicine · doi:10.1186/s12916-023-03177-y · Cited by 12
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Self-citationLai, B., Qian, S., Zhang, H., Zhang, S., Kozlova, A., Duan, J., He, X., & Xu, J. (2022) · PLoS Computational Biology · doi:10.1371/journal.pcbi.1010011 · Cited by 13
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García, M. F., Townsley, K. G., Pruitt, A., Davidson, E., Balafkan, N., Warrell, J., Huang, T.-C., Kibowen, A., Chu, Z., Dai, Y., et al. (2026) · Nature Neuroscience · doi:10.1038/s41593-026-02247-7 · Cited by 10
Kozlova, A., Butler, R. R., Zhang, S., Ujas, T. A., Zhang, H., Steidl, S., Sanders, A. R., Pang, Z. P., Vezina, P., & Duan, J. (2021) · Neuropsychopharmacology · doi:10.1038/s41386-021-01027-0 · Cited by 9
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Su, X. Y., Zhang, H., Yan, H., Yang, Q., Wang, L., Le, T. T., Liu, J., Cheruvu, L., Labour, E., Zhang, S., et al. (2025) · Molecular Psychiatry · doi:10.1038/s41380-025-03246-z · Cited by 9
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García, M. F., Townsley, K. G., Pruitt, A., Davidson, E., Balafkan, N., Warrell, J., Huang, T.-C., Kibowen, A., Chu, Z., Dai, Y., et al. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.08.23.609190 · Cited by 9
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Davis, K. N., Qu, P., Ma, S., Lin, L., Plastini, M. J., Dahl, N., Plazzi, G., Pizza, F., O'Hara, R. M., Wong, W. H., et al. (2023) · Human Molecular Genetics · doi:10.1093/hmg/ddad123 · Cited by 7
Detera‐Wadleigh, S. D., Kassem, L., Besancon, E., Lopes, F. L., Akula, N., Sung, H., Blattner, M., Sheridan, L., Lacbawan, L. N., Garcia, J., et al. (2023) · Translational Psychiatry · doi:10.1038/s41398-023-02641-w · Cited by 8
Michalski, C., & Wen, Z. (2023) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2023.1291115 · Cited by 7
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Li, X., Ma, S., Yan, W., Wu, Y. Q., Kong, H., Zhang, M., Luo, X., & Xia, J. (2022) · Database · doi:10.1093/database/baac049 · Cited by 7
Gedik, H., Peterson, R. E., Riley, B. P., Vladimirov, V. I., & Bacanu, S. (2023) · Complex Psychiatry · doi:10.1159/000530223 · Cited by 6
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Zhang, S., Sanders, A. R., & Duan, J. (2022) · Nature Neuroscience · doi:10.1038/s41593-022-01172-9 · Cited by 6
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Zhang, Y., Zhang, Z., Chen, H.-X., Liu, C., Liu, B.-D., Lan, Y.-L., Xie, Y.-Y., Chen, T., Chen, S., Feng, G., et al. (2025) · The EMBO Journal · doi:10.1038/s44318-025-00476-3 · Cited by 5
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Zhang, H., & Zhang, S. (2021) · BIO-PROTOCOL · doi:10.21769/bioprotoc.4051 · Cited by 5
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Heskett, M. B., Spellman, P. T., & Thayer, M. J. (2021) · Non-Coding RNA · doi:10.3390/ncrna7040066 · Cited by 5
Rummel, C. K., Gagliardi, M., Herholt, A., Ahmad, R., Murek, V., Weigert, L., Hausruckinger, A., Maidl, S., Jiménez-Barrón, L. T., Trastulla, L., et al. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.06.27.545266 · Cited by 5
Ward, T. R., Qu, P.-P., Leung, L. C., Zhou, B., Muench, K. L., Khechaduri, A., Plastini, M. J., Charlton, C. A., Pattni, R., Ho, S. S., et al. (2025) · European Journal of Human Genetics · doi:10.1038/s41431-025-01856-3 · Cited by 7
Lee, D., Seo, J., Jeong, H. C., Lee, H., & Lee, S. B. (2021) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2021.756613 · Cited by 8
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Powell, S. K., Liao, W., Ghorbani, S., Rigat, R., O’Shea, C. P., Kammourh, S., Elahi, R., Infante, D., Deans, P. M., Le, D. J., et al. (2025) · Molecular Psychiatry · doi:10.1038/s41380-025-03352-y · Cited by 5
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Morilla, L. M., Amoaning, R. E., Luo, S., Moharam, R. G., Huang, C., & Yip, S. P. (2026) · Trends in Genetics · doi:10.1016/j.tig.2025.12.008 · Cited by 3
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Liang, L., Zhang, S., Wang, Z., Zhang, H., Li, C., Thapa, C., Oh, E., Sirkin, D., Sun, X., Barishman, A., et al. (2026) · Science · doi:10.1126/science.adw3949 · Cited by 3
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Gregg, C. J. (2021) · Frontiers in Ecology and Evolution · doi:10.3389/fevo.2021.693781 · Cited by 4
Yu, Z., Qian, F., Fang, Q.-L., Meng, X., Li, Y., Feng, C., Li, L., Li, B., Feng, Y.-R., Jiang, H., et al. (2025) · Nucleic Acids Research · doi:10.1093/nar/gkaf1112 · Cited by 2
Shen, J., & Xiao, C. (2025) · Schizophrenia · doi:10.1038/s41537-025-00705-y · Cited by 2
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Bogunovic, D. (2026) · The Journal of Experimental Medicine · doi:10.1084/jem.20241044 · Cited by 2
Lai, B., Qian, S., Zhang, H., Zhang, S., Kozlova, A., Duan, J., He, X., & Xu, J. (2021) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2021.02.02.429064 · Cited by 2
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Wen, J., Li, G., Chen, J. C., Sun, Q., Liu, W., Guan, W., Lai, B., Zhou, H., Szatkiewicz, J., He, X., et al. (2022) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2022.12.20.521277 · Cited by 2
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Powell, S. K., Liao, W., O’Shea, C. P., Kammourh, S., Ghorbani, S., Rigat, R., Elahi, R., Deans, P. M., Le, D. J., Agarwal, P., et al. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.07.17.549339 · Cited by 2
Zhao, X., Li, Y., Zhang, S., Sudwarts, A., Zhang, H., Kozlova, A., Moulton, M. J., Goodman, L. D., Pang, Z. P., Sanders, A. R., et al. (2024) · medRxiv · doi:10.1101/2024.08.14.24312009 · Cited by 2
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Duan, J. (2023) · Medical Review · doi:10.1515/mr-2023-0016 · Cited by 1
Self-citationBetter together: Non-additive interactions between schizophrenia risk genes
Deans, P. J. M., & Brennand, K. (2023) · Cell Genomics · doi:10.1016/j.xgen.2023.100403 · Cited by 1
Kono, M., Hatano, H., Asahara, K., Nakano, M., Bagherzadeh, R., Kawashima, T., Arakawa, T., Sato, M., Inokuchi, H., Nishino, T., et al. (2026) · Nature Communications · doi:10.1038/s41467-026-75767-2 · Cited by 2
ATAC-seq and psychiatric disorders
Fullard, J. F., Bendl, J. M., & Roussos, P. (2021) · Elsevier eBooks · doi:10.1016/b978-0-12-823577-5.00036-2 · Cited by 1
Introduction to epigenetics in psychiatry
Lee, R. S., & Avramopoulos, D. (2021) · Elsevier eBooks · doi:10.1016/b978-0-12-823577-5.00009-x · Cited by 1
Self-citationSey, N. Y. A., Hu, B., Iskhakova, M., Sun, H., Shokrian, N., Hutta, G. B., Marks, J. A., Quach, B. C., Johnson, E. O., Hancock, D. B., et al. (2021) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2021.03.18.436046 · Cited by 1
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Villarroel, C. A., Bastías, M., Canessa, P., & Cubillos, F. A. (2021) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2021.04.15.440091 · Cited by 1
Zhang, S., Zhang, H., Forrest, M. P., Zhou, Y., Bagchi, V. A., Kozlova, A., Santos, M. D., Piguel, N. H., Dionisio, L. E., Sanders, A. R., et al. (2021) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2021.12.11.472229 · Cited by 1
Self-citationWang, B., Starr, A. L., & Fraser, H. B. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.05.22.541747 · Cited by 1
Wang, B., Starr, A. L., & Fraser, H. B. (2023) · eLife · doi:10.7554/elife.89594.1 · Cited by 1
Wang, B., Starr, A. L., & Fraser, H. B. (2024) · eLife · doi:10.7554/elife.89594.2 · Cited by 1
Mutations of schizophrenia risk gene SETD1A dysregulate synaptic function in human neuronsPreprint
Su, X. Y., Zhang, H., Yan, H., Yang, Q., Wang, L., Le, T. T., Liu, J., Cheruvu, L., Labour, E., Zhang, S., et al. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.10.20.619313 · Cited by 1
Self-citation
Metadata
- Authors
- Zhang, S., Zhang, H., Zhou, Y., Qiao, M., Zhao, S., Kozlova, A., Shi, J., Sanders, A. R., Wang, G., Luo, K., Sengupta, S., West, S., Qian, S., Streit, M., Avramopoulos, D., Cowan, C. A., Chen, M., Pang, Z. P., Gejman, P. V., He, X., & Duan, J.
- Affiliations
- Endeavor Health (US)
- University of Chicago (US)
- National Cancer Institute (US)
- Johns Hopkins University (US)
- Harvard University (US)
- Rutgers, The State University of New Jersey (US)
- Corresponding author
- Zhang, Siwei
- Zhang, Hanwen
- Zhou, Yifan
- Qiao, Min
- Zhao, Siming
- He, Xin
- Duan, Jubao
- ORCID
- Venue
- Science
- Published
- 2020-07-31
- Volume
- 369
- Issue
- 6503
- Pages
- 561-565
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- PMC
- PMC7773145
- OpenAlex
- W3046891017
- Cited by
- 127
- References
- 88
- Citations by year
- 2026: 13 · 2025: 14 · 2024: 17 · 2023: 25 · 2022: 30 · 2021: 20 · 2020: 8
- FWCI
- 6.81
- Type
- journal article
- Language
- en
- Open access
- green
- europepmc.org
- Locations
- Science (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- NIH Office of the Director (R01MH106575, R01MH116281, R01AG063175, R01MH110531, R01AA023797, R01MH113215)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Chromatin Dynamics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Epigenetics and DNA Methylation
- Keywords
- non-coding variants, chromatin accessibility, iPSC-derived neurons, brain development, transcription factor binding, enhancers, expression quantitative trait loci, chromatin interactions
- MeSH terms
- Alleles, Brain, Chromatin, Enhancer Elements, Genetic, Humans, Risk, Schizophrenia, Polymorphism, Single Nucleotide, Quantitative Trait Loci, Induced Pluripotent Stem Cells
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