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Allele-Specific Chromosome Removal after Cas9 Cleavage in Human Embryos
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Abstract
Correction of disease-causing mutations in human embryos holds the potential to reduce the burden of inherited genetic disorders and improve fertility treatments for couples with disease-causing mutations in lieu of embryo selection. Here, we evaluate repair outcomes of a Cas9-induced double-strand break (DSB) introduced on the paternal chromosome at the EYS locus, which carries a frameshift mutation causing blindness. We show that the most common repair outcome is microhomology-mediated end joining, which occurs during the first cell cycle in the zygote, leading to embryos with non-mosaic restoration of the reading frame. Notably, about half of the breaks remain unrepaired, resulting in an undetectable paternal allele and, after mitosis, loss of one or both chromosomal arms. Correspondingly, Cas9 off-target cleavage results in chromosomal losses and hemizygous indels because of cleavage of both alleles. These results demonstrate the ability to manipulate chromosome content and reveal significant challenges for mutation correction in human embryos.
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“and that microhomology-mediated end-joining (MMEJ) is the dominant repair pathway in this context (37).”
From Frequent loss of heterozygosity in CRISPR-Cas9–edited early human embryos (2021) · cites this paper as [37]
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“This suggests that MMEJ-derived large deletions (14, 37) are more likely than microhomology-mediated gene conversion in this context, though protein expression has yet to be fully characterised.”
From Frequent loss of heterozygosity in CRISPR-Cas9–edited early human embryos (2021) · cites this paper as [37]
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Cites
Search-and-replace genome editing without double-strand breaks or donor DNA
Anzalone, A. V., Randolph, P. B., Davis, J. R., Sousa, A. A., Koblan, L. W., Levy, J. M., Chen, P. J., Wilson, C., Newby, G. A., Raguram, A., et al. (2019) · Nature · doi:10.1038/s41586-019-1711-4 · Cited by 4,767
To err (meiotically) is human: the genesis of human aneuploidy
Hassold, T. J., & Hunt, P. A. (2001) · Nature Reviews Genetics · doi:10.1038/35066065 · Cited by 2,456
Kosicki, M., Tomberg, K., & Bradley, A. (2018) · Nature Biotechnology · doi:10.1038/nbt.4192 · Cited by 1,883
CRISPR/Cas9-mediated gene editing in human tripronuclear zygotes
Liang, P., Xu, Y., Zhang, X., Ding, C., Huang, R., Zhang, Z., Lv, J., Xie, X., Chen, Y., Li, Y., et al. (2015) · Protein & Cell · doi:10.1007/s13238-015-0153-5 · Cited by 1,135
Correction of a pathogenic gene mutation in human embryos
Ma, H., Marti-Gutierrez, N., Park, S.-W., Wu, J., Lee, Y., Suzuki, K., Koski, A., Ji, D., Hayama, T., Ahmed, R., et al. (2017) · Nature · doi:10.1038/nature23305 · Cited by 992
Repair of Strand Breaks by Homologous RecombinationPreprint
Jasin, M., & Rothstein, R. J. (2013) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a012740 · Cited by 929
Self-citationChromosome instability is common in human cleavage-stage embryos
Vanneste, E., Voet, T., Le Caignec, C., Ampe, M., Konings, P., Melotte, C., Debrock, S., Amyere, M., Vikkula, M., Schuit, F., et al. (2009) · Nature Medicine · doi:10.1038/nm.1924 · Cited by 880
Hastings, P. J., Ira, G., & Lupski, J. R. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000327 · Cited by 818
Microhomology-Mediated End Joining: A Back-up Survival Mechanism or Dedicated Pathway?
Sfeir, A., & Symington, L. S. (2015) · Trends in Biochemical Sciences · doi:10.1016/j.tibs.2015.08.006 · Cited by 636
Lin, Y., Cradick, T. J., Brown, M. T., Deshmukh, H., Ranjan, P., Sarode, N., Wile, B. M., Vertino, P. M., Stewart, F. J., & Bao, G. (2014) · Nucleic Acids Research · doi:10.1093/nar/gku402 · Cited by 634
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Items 101–200 of 305
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Corsi, G. I., Gadekar, V. P., Gorodkin, J., & Seemann, S. E. (2021) · Nucleic Acids Research · doi:10.1093/nar/gkab1131 · Cited by 25
Castiello, M. C., Brandas, C., Ferrari, S., Porcellini, S., Sacchetti, N., Canarutto, D., Draghici, E., Merelli, I., Barcella, M., Pelosi, G., et al. (2024) · Science Translational Medicine · doi:10.1126/scitranslmed.adh8162 · Cited by 25
Base editing of the mutated TERT promoter inhibits liver tumor growth
Zhao, G., Ma, Q., Huang, Y., Jiang, H., Xu, Q., Luo, S., Meng, Z., Liu, J., Zhu, L., Lin, Q., et al. (2023) · Hepatology · doi:10.1097/hep.0000000000000700 · Cited by 23
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Lakhani, A. A., Thompson, S. L., & Sheltzer, J. M. (2023) · Trends in Genetics · doi:10.1016/j.tig.2023.09.002 · Cited by 24
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Shukla, V., Høffding, M. K., & Hoffmann, E. R. (2021) · Seminars in Cell and Developmental Biology · doi:10.1016/j.semcdb.2020.12.007 · Cited by 22
Correction of RNA splicing defect in β654-thalassemia mice using CRISPR/Cas9 gene-editing technology
Lü, D., Gong, X., Fang, Y., Guo, X., Chen, Y., Yang, F., Zhao, G., Ma, Q., Zeng, Y., & Zeng, F. (2021) · Haematologica · doi:10.3324/haematol.2020.278238 · Cited by 22
Yuan, B., Bi, C., Tian, Y., Wang, J., Jin, Y., Alsayegh, K. N., Tehseen, M., Yi, G., Zhou, X., Shao, Y., et al. (2024) · BMC Biology · doi:10.1186/s12915-024-01896-z · Cited by 26
Genetically modified organoids for tissue engineering and regenerative medicine
Zhang, Q., Jin, H., Zhu, D., Chen, Y., Fu, M., Lu, S., Qiu, Y., Zhou, G., Yang, G., & Jiang, Z. (2024) · Advances in Colloid and Interface Science · doi:10.1016/j.cis.2024.103337 · Cited by 23
Hashizume, R., Wakita, S., Sawada, H., Takebayashi, S., Kitabatake, Y., Miyagawa, Y., HIROKAWA, Y. S., Imai, H., & Kurahashi, H. (2025) · PNAS Nexus · doi:10.1093/pnasnexus/pgaf022 · Cited by 32
Stamatiadis, P., Boel, A., Cosemans, G., Popovic, M., Bekaert, B., Guggilla, R. R., Tang, M., Sutter, P. D., Nieuwerburgh, F. V., Menten, B., et al. (2021) · Human Reproduction · doi:10.1093/humrep/deab027 · Cited by 21
CRISPR/Cas gene editing in the human germline
Bekaert, B., Boel, A., Cosemans, G., Witte, L. D., Menten, B., & Heindryckx, B. (2022) · Seminars in Cell and Developmental Biology · doi:10.1016/j.semcdb.2022.03.012 · Cited by 21
Y chromosome toxicity does not contribute to sex-specific differences in longevity
Delanoue, R., Clot, C., Leray, C., Pihl, T. P. B., & Hudry, B. (2023) · Nature Ecology & Evolution · doi:10.1038/s41559-023-02089-7 · Cited by 21
Neumayer, G., Torkelson, J. L., Li, S., McCarthy, K., Zhen, H. H., Vangipuram, M., Mader, M. M.-D., Gebeyehu, G., Jaouni, T. M., Jackow, J., et al. (2024) · Nature Communications · doi:10.1038/s41467-024-49400-z · Cited by 30
Emerging therapeutics in Huntington’s disease
Wiggins, R., & Feigin, A. (2021) · Expert Opinion on Emerging Drugs · doi:10.1080/14728214.2021.1962285 · Cited by 19
Replication stress in mammalian embryo development, differentiation, and reprogramming
Wang, N., Xu, S., & Egli, D. M. (2023) · Trends in Cell Biology · doi:10.1016/j.tcb.2023.03.015 · Cited by 21
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da Silva, J. F., Meyenberg, M., & Loizou, J. I. (2021) · Trends in Genetics · doi:10.1016/j.tig.2021.07.010 · Cited by 18
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Breier, D., & Peer, D. (2022) · Bioactive Materials · doi:10.1016/j.bioactmat.2022.08.013 · Cited by 21
In Vivo Hematopoietic Stem Cell Genome Editing: Perspectives and Limitations
Psatha, N., Paschoudi, K., Παπαδοπούλου, Α., & Yannaki, E. (2022) · Genes · doi:10.3390/genes13122222 · Cited by 24
Narváez-Pérez, L. F., Paz‐Bermúdez, F. J., Ávalos‐Fuentes, J. A., Campos‐Romo, A., Florán, B., & Segovia, J. (2023) · Gene Therapy · doi:10.1038/s41434-023-00414-0 · Cited by 19
Bobotis, B. C., Halvorson, T., Carrier, M., & Tremblay, M. (2024) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2024.1317125 · Cited by 22
Mitochondrial Genetic Drift after Nuclear Transfer in Oocytes
Yamada, M., Akashi, K., Ooka, R., Miyado, K., & Akutsu, H. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21165880 · Cited by 18
Park, S. H., Cao, M., & Bao, G. (2023) · Current Opinion in Biomedical Engineering · doi:10.1016/j.cobme.2023.100478 · Cited by 18
Application of the modified cytosine base-editing in the cultured cells of bama minipig
Pan, J.-S., Lin, Z.-S., Wen, J.-C., Guo, J., Wu, X.-H., Liu, Y., Lai, W.-J., Liang, Q.-Y., Xie, Y.-S., Chen, Y.-R., et al. (2021) · Biotechnology Letters · doi:10.1007/s10529-021-03159-1 · Cited by 17
Huang, Y., Zhang, X., Zhu, P., & Ji, L. (2022) · World Journal of Clinical Cases · doi:10.12998/wjcc.v10.i18.5934 · Cited by 18
In vivo evaluation of guide-free Cas9-induced safety risks in a pig model
Ge, W., Gou, S., Zhao, X., Jin, Q., Zhuang, Z., Zhao, Y., Liang, Y., Ouyang, Z., Liu, X., Chen, F., et al. (2024) · Signal Transduction and Targeted Therapy · doi:10.1038/s41392-024-01905-1 · Cited by 17
CRISPR, animals, and FDA oversight: Building a path to success
Epstein, L. R., Lee, S. S., Miller, M. F., & Lombardi, H. A. (2021) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2004831117 · Cited by 17
Geng, K., Merino, L. G., Wedemann, L., Martens, A., Sobota, M., Sanchez, Y. P., Søndergaard, J. N., White, R. J., & Kutter, C. (2022) · Genome Research · doi:10.1101/gr.276901.122 · Cited by 19
Tomita, A., Sasanuma, H., Owa, T., Nakazawa, Y., Shimada, M., Fukuoka, T., Ogi, T., & Nakada, S. (2023) · Nature Communications · doi:10.1038/s41467-023-41048-5 · Cited by 17
CRISPR/Cas9 as a Mutagenic Factor
Shumega, A. R., Pavlov, Y. I., Chirinskaite, A. V., Rubel, A. A., Inge-Vechtomov, S. G., & Stepchenkova, E. I. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms25020823 · Cited by 18
Porreca, I., Blassberg, R. A., Harbottle, J. A., Joubert, B. C., Mielczarek, O., Stombaugh, J., Hemphill, K., Sumner, J., Pazeraitis, D., Touza, J. L., et al. (2024) · Molecular Therapy · doi:10.1016/j.ymthe.2024.06.033 · Cited by 16
CRISPR/Cas9 from bench to bedside: what clinicians need to know before application?
Li, Z., & Li, C. (2020) · Military Medical Research · doi:10.1186/s40779-020-00292-2 · Cited by 16
CRISPR/Cas: History and Perspectives
Shmakova, A., Shmakova, O. P., Karpukhina, A. A., & Vassetzky, Y. S. (2022) · Russian Journal of Developmental Biology · doi:10.1134/s1062360422040075 · Cited by 17
Correction of the pathogenic mutation in TGM1 gene by adenine base editing in mutant embryos
Dang, L., Zhou, X., Zhong, X., Yu, W., Huang, S., Liu, H., Chen, Y., Zhang, W., Yuan, L., Li, L., et al. (2021) · Molecular Therapy · doi:10.1016/j.ymthe.2021.05.007 · Cited by 16
Huang, C., Li, Q., & Li, J. (2022) · Medical Review · doi:10.1515/mr-2022-0029 · Cited by 20
Quan, Z.-J., Li, S.-A., Yang, Z.-X., Zhao, J.-J., Li, G., Zhang, F., Wen, W., Cheng, T., & Zhang, X. (2022) · Genomics Proteomics & Bioinformatics · doi:10.1016/j.gpb.2022.06.002 · Cited by 17
Genome maintenance during embryogenesis
Munisha, M., & Schimenti, J. C. (2021) · DNA repair · doi:10.1016/j.dnarep.2021.103195 · Cited by 15
Lackner, M., Helmbrecht, N., Pääbo, S., & Riesenberg, S. (2023) · Nucleic Acids Research · doi:10.1093/nar/gkac1254 · Cited by 16
Modeling specific aneuploidies: from karyotype manipulations to biological insights
Truong, M. A., Cané‐Gasull, P., & Lens, S. M. A. (2023) · Chromosome Research · doi:10.1007/s10577-023-09735-7 · Cited by 16
Toward precise CRISPR DNA fragment editing and predictable 3D genome engineering
Wu, Q., & Shou, J. (2020) · Journal of Molecular Cell Biology · doi:10.1093/jmcb/mjaa060 · Cited by 15
Adenine base-editing-mediated exon skipping induces gene knockout in cultured pig cells
Zhu, X., Pan, J.-S., Lin, T., Yang, Y., Huang, Q., Yang, S.-P., Qu, Z.-X., Lin, Z.-S., Wen, J.-C., Yan, A., et al. (2022) · Biotechnology Letters · doi:10.1007/s10529-021-03214-x · Cited by 14
Higashitani, Y., & Horie, K. (2023) · Scientific Reports · doi:10.1038/s41598-023-38397-y · Cited by 13
Cis-regulatory modes of Ultrabithorax inactivation in butterfly forewings
Tendolkar, A., Mazo‐Vargas, A., Livraghi, L., Hanly, J. J., Horne, K. C. V., Gilbert, L. E., & Martin, A. (2023) · eLife · doi:10.7554/elife.90846 · Cited by 13
Recent progress in gene therapy for familial hypercholesterolemia treatment
Luo, Y., Hou, Y., Zhao, W., & Yang, B. (2024) · iScience · doi:10.1016/j.isci.2024.110641 · Cited by 13
Shankar, V., van Blitterswijk, C., Vrij, E., & Giselbrecht, S. (2021) · Advanced Science · doi:10.1002/advs.202004250 · Cited by 12
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Chen, H. Y., Lehmann, O. J., & Swaroop, A. (2021) · EBioMedicine · doi:10.1016/j.ebiom.2021.103360 · Cited by 16
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Tv, N., & Лебедев, И. Н. (2022) · Cells · doi:10.3390/cells11121923 · Cited by 13
Daisy-chain gene drives: The role of low cut-rate, resistance mutations, and maternal deposition
Verkuijl, S. A. N., Anderson, M. A. E., Alphey, L., & Bonsall, M. B. (2022) · PLoS Genetics · doi:10.1371/journal.pgen.1010370 · Cited by 12
Screening and validation of genome-edited animals
Bunton-Stasyshyn, R. K. A., Codner, G. F., & Teboul, L. (2021) · Laboratory Animals · doi:10.1177/00236772211016922 · Cited by 13
Cellular senescence in acute kidney injury: Target and opportunity
Li, T., Yang, K., Gao, W., Peng, F., & Zou, X. (2024) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2024.149744 · Cited by 13
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Zheng, G., & Orkin, S. H. (2024) · Advances in experimental medicine and biology · doi:10.1007/978-3-031-62731-6_9 · Cited by 13
Zhao, J.-J., Sun, X., Tian, S.-N., Zhao, Z.-Z., Yin, M., Zhao, M., Zhang, F., Li, S.-A., Yang, Z.-X., Wen, W., et al. (2024) · BMC Genomics · doi:10.1186/s12864-024-10050-6 · Cited by 14
Making sense of heritable human genome editing: Scientific and ethical considerations
Greenfield, A. (2021) · Progress in molecular biology and translational science · doi:10.1016/bs.pmbts.2020.12.008 · Cited by 13
Efficient base editing and development in human embryos without chromosomal alterationsPreprint
Jerabek, S., Kim, J., Sung, J., Jung, C., Kulmann, M. I. R., Isado, M., Jang, H.-S., Li, M., Bhatele, S., Kappy, M. D., et al. (2026) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2026.05.30.728989 · Cited by 13
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Ryu, J., Adashi, E. Y., & Hennebold, J. D. (2023) · Fertility and Sterility · doi:10.1016/j.fertnstert.2023.02.040 · Cited by 12
Optically Controlled CRISPR-Cas9 and Cre Recombinase for Spatiotemporal Gene Editing: A Review
Devarajan, A. (2023) · ACS Synthetic Biology · doi:10.1021/acssynbio.3c00596 · Cited by 11
Vinceti, A., Iannuzzi, R. M., Boyle, I., Trastulla, L., Campbell, C. D., Vázquez, F., Dempster, J. M., & Iorio, F. (2024) · Genome biology · doi:10.1186/s13059-024-03336-1 · Cited by 12
Engineering structural variants to interrogate genome function
Koeppel, J., Weller, J., Vanderstichele, T., & Parts, L. (2024) · Nature Genetics · doi:10.1038/s41588-024-01981-7 · Cited by 12
Bi, C., Yuan, B., Zhang, Y., Wang, M., Tian, Y., & Li, M. (2025) · Communications Biology · doi:10.1038/s42003-025-07539-5 · Cited by 12
Future of Lung Transplantation
Chan, J. C. Y., Chaban, R., Chang, S. H., Angel, L. F., Montgomery, R. A., & Pierson, R. N. (2023) · Clinics in Chest Medicine · doi:10.1016/j.ccm.2022.11.003 · Cited by 11
Small nucleic acids and the path to the clinic for anti-CRISPR
Barkau, C. L., O’Reilly, D., Eddington, S. B., Damha, M. J., & Gagnon, K. T. (2021) · Biochemical Pharmacology · doi:10.1016/j.bcp.2021.114492 · Cited by 12
A scalable, GMP-compatible, autologous organotypic cell therapy for Dystrophic Epidermolysis BullosaPreprint
Neumayer, G., Torkelson, J. L., Li, S., McCarthy, K., Zhen, H. H., Vangipuram, M., Jackow, J., Rami, A., Hansen, C. S., Guo, Z., et al. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.02.28.529447 · Cited by 11
CD3 engagement as a new strategy for allogeneic “off-the-shelf” T cell therapy
Li, G., Reid, K. M., Spitler, K., Beatty, N. J., Boucher, J. C., & Davila, M. L. (2022) · Molecular Therapy — Oncolytics · doi:10.1016/j.omto.2022.02.024 · Cited by 10
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Xue, Y., & Shang, L. (2022) · International Journal of Environmental Research and Public Health · doi:10.3390/ijerph19116739 · Cited by 16
Li, X., Hu, H., Wang, H., Liu, J., Jiang, W., Zhou, F., & Zhang, J. (2024) · Materials Horizons · doi:10.1039/d4mh01158a · Cited by 12
Miskel, D., Poirier, M., Beunink, L., Rings, F., Held-Hoelker, E., Tholen, E., Tesfaye, D., Schellander, K., Salilew‐Wondim, D., Blaschka, C., et al. (2022) · Scientific Reports · doi:10.1038/s41598-022-14699-5 · Cited by 10
Chen, C., Chen, R., Gu, J., Yang, F., Wen, L., Liu, Z., Yang, C., Geng, B., & Xia, Y. (2025) · The Journal of Steroid Biochemistry and Molecular Biology · doi:10.1016/j.jsbmb.2025.106800 · Cited by 9
Schmidt, J. K., Reynolds, M. R., Golos, T. G., & Slukvin, I. I. (2022) · Retrovirology · doi:10.1186/s12977-022-00604-5 · Cited by 9
Bower, O. J., McCarthy, A., Lea, R. A., Alanis‐Lobato, G., Zohren, J., Gerri, C., Turner, J. M. A., & Niakan, K. K. (2021) · Current Protocols · doi:10.1002/cpz1.232 · Cited by 8
Gene editing strategies to treat lysosomal disorders: The example of mucopolysaccharidoses
Fachel, F. N. S., Frâncio, L., Poletto, É., Schuh, R. S., Teixeira, H. F., Giugliani, R., Baldo, G., & Matte, Ú. D. S. (2022) · Advanced Drug Delivery Reviews · doi:10.1016/j.addr.2022.114616 · Cited by 9
Controlling CRISPR-Cas9 genome editing in human cells using a molecular glue degrader
Khajanchi, N., Patel, V., Dua, R., Kabra, M., Pattnaik, B. R., & Saha, K. (2025) · Molecular Therapy — Nucleic Acids · doi:10.1016/j.omtn.2025.102640 · Cited by 8
CRISPR-Cas9-induced double-strand breaks disrupt maintenance of epigenetic information
Wang, M., Zhang, Y., Bi, C., & Li, M. (2025) · Genome biology · doi:10.1186/s13059-025-03851-9 · Cited by 9
Base editing reveals an essential role for NANOG in human embryogenesis
Bower, O. J., Orsi, A. E. R., McMahon, R., Staneva, D. P., Blagrove, J. R., Singh, K., Simon, C. S., McCarthy, A., Garcia, P., Shaikly, V., et al. (2026) · Nature · doi:10.1038/s41586-026-10792-1 · Cited by 9
Expanding the Toolbox and Targets for Gene Editing.
Dan, J., Memczak, S., & Belmonte, J. C. I. (2021) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2020.12.005 · Cited by 7
Knauer, C., Haltern, H., Schoger, E., Kügler, S., Roos, L., Zelarayan, L. C., Hasenfuss, G. P., Zimmermann, W., Wollnik, B., & Cyganek, L. (2024) · Molecular Therapy — Nucleic Acids · doi:10.1016/j.omtn.2024.102123 · Cited by 8
Cha, J. H., Lee, S., Yun, Y., Choi, W. H., Koo, H., Jung, S. H., Chae, H. B., Lee, S. J., Lee, S. J., Jo, D. H., et al. (2024) · Molecular Therapy — Nucleic Acids · doi:10.1016/j.omtn.2024.102257 · Cited by 7
Chirco, K. R., Martinez, C., & Lamba, D. A. (2023) · Vision Research · doi:10.1016/j.visres.2023.108257 · Cited by 8
Immunotherapy to get on point with base editing
Harbottle, J. A. (2021) · Drug Discovery Today · doi:10.1016/j.drudis.2021.04.003 · Cited by 8
Protective antigen–mediated delivery of an anti-CRISPR protein for precision genome editing
Vera, A. O., Truex, N. L., Sreekanth, V., Pentelute, B. L., Choudhary, A., & Raines, R. T. (2025) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2426960122 · Cited by 7
Strategies and mechanisms of precision genome engineering: From gene editing to genome writing
Huang, K., Tian, J., Zhao, W., Zhang, S., Xiang, L., Yang, M., Ls, L., Huang, Y., Zhang, N., Sun, L., et al. (2026) · iMetaOmics. · doi:10.1002/imo2.70115 · Cited by 8
Detailed mechanisms for unintended large DNA deletions with CRISPR, base editors, and prime editorsPreprint
Hwang, G., Lee, S., Oh, M., Kim, S., Habib, O., Jang, H., Kim, H. S., Kim, C. H., Kim, S., & Bae, S. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.01.04.574288 · Cited by 7
Li, Z., Lan, J., Shi, X., Lu, T., Hu, X., Liu, X., Chen, Y., & He, Z. (2024) · The CRISPR Journal · doi:10.1089/crispr.2023.0034 · Cited by 6
Human embryo editing against disease is unsafe and unproven — despite rosy predictions
Carmi, S., Greely, H. T., & Mitchell, K. J. (2025) · Nature · doi:10.1038/d41586-024-04105-7 · Cited by 6
High-fidelity human chromosome transfer and elimination
Petris, G., Grazioli, S., van Bijsterveldt, L., Murat, P., Liu, K. C., Birnbaum, J., Sale, J. E., & Chin, J. W. (2025) · Science · doi:10.1126/science.adv9797 · Cited by 6
Bhattacharya, S., Agarwal, A., & Muniyappa, K. (2024) · Journal of Molecular Biology · doi:10.1016/j.jmb.2024.168550 · Cited by 6
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Metadata
- Authors
- Zuccaro, M. V., Xu, J., Mitchell, C., Marin, D., Zimmerman, R., Rana, B., Weinstein, E., King, R. T., Palmerola, K. L., Smith, M. E., Tsang, S. H., Goland, R., Jasin, M., Lobo, R., Treff, N., & Egli, D.
- Affiliations
- Columbia University Irving Medical Center (US)
- Genomic Prediction (United States) (US)
- Columbia University (US)
- Rutgers, The State University of New Jersey (US)
- Memorial Sloan Kettering Cancer Center (US)
- Corresponding author
- Egli, Dieter
- ORCID
- Venue
- Cell
- Publisher
- Elsevier BV
- Published
- 2020-12
- Volume
- 183
- Issue
- 6
- Pages
- 1650-1664.e15
- ISSN
- 0092-8674 (ISSN-L)
- OpenAlex
- W3095871885
- Cited by
- 303
- References
- 46
- Citations by year
- 2026: 27 · 2025: 30 · 2024: 51 · 2023: 64 · 2022: 63 · 2021: 57 · 2020: 11
- FWCI
- 15.99
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Cell (publishedVersion)
- bioRxiv (Cold Spring Harbor Laboratory) (acceptedVersion, cc-by-nd)
- PubMed (publishedVersion)
- Funders
- Irving Medical Center, Columbia University
- New York Stem Cell Foundation
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › CRISPR and Genetic Engineering
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Animal Genetics and Reproduction
- Keywords
- CRISPR/Cas9, human embryo, frameshift mutation, microhomology-mediated end joining, DNA double-strand break repair, zygote, paternal allele, chromosome loss, off-target cleavage, indels, embryo mosaicism, germline editing, inherited blindness
- MeSH terms
- Human Embryonic Stem Cells, Gene Editing, CRISPR-Associated Protein 9, Alleles, Animals, Base Sequence, Blastocyst, Cell Cycle, Cell Line, Chromosome Deletion, Chromosomes, Human, Embryo, Mammalian, Eye Proteins, Fertilization, Genotype, Heterozygote, Humans, Mitosis, Embryo Implantation, Gene Rearrangement, Genome, Human, Open Reading Frames, Polymorphism, Single Nucleotide, Mice, DNA Breaks, Double-Stranded, INDEL Mutation, Genetic Loci, DNA End-Joining Repair
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