Cited by 305CRISPR and Genetic EngineeringDNA Repair MechanismsAnimal Genetics and Reproduction

The DOI matches its Crossref record; 44 of the 46 references it cites were found in a registry or an index, and 1 are not checked yet.

Allele-Specific Chromosome Removal after Cas9 Cleavage in Human Embryos

Open access

Zuccaro, Michael V., Xu, Jia, Mitchell, Carl, Marin, Diego, Zimmerman, Raymond, Rana, Bhavini, Weinstein, Everett, King, Rebeca T., Palmerola, Katherine L., Smith, Morgan E., Tsang, Stephen H., Goland, Robin, Jasin, Maria, Lobo, Rogerio, Treff, Nathan, Egli, Dieter·2020·Cell

DOI 10.1016/j.cell.2020.10.025

Published version of a preprint

Open this paper in CoChat — free account Open PDF

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.

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

Crossref · 10.1016/j.cell.2020.10.025

Cites

44 of 45 references verified0 citation errors · 0 not checkable

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?

Self-check

Percentages, sums and reported differences re-computed from the paper’s own numbers.

The self-check needs the paper’s full text.

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
Repair of double-strand breaks induced by CRISPR–Cas9 leads to large deletions and complex rearrangements
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-citation
Chromosome 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
A Microhomology-Mediated Break-Induced Replication Model for the Origin of Human Copy Number Variation
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
CRISPR/Cas9 systems have off-target activity with insertions or deletions between target DNA and guide RNA sequences
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

Flagged first, then by citations

Show all 46 references

1 of the 46 references couldn’t be matched to a known paper.

Sorted by citations

Items 201–300 of 305

Racing CARs to veterinary immuno-oncology
Cockey, J. R., & Leifer, C. A. (2023) · Frontiers in Veterinary Science · doi:10.3389/fvets.2023.1130182 · Cited by 4
Commercialization of CRISPR-Cas technology: issues and impact
Kharkwal, G. B., Kundu, M. G., Verma, D., & Mishra, S. (2024) · Elsevier eBooks · doi:10.1016/b978-0-323-91808-4.00002-x · Cited by 4
Various repair events following CRISPR/Cas9-based mutational correction of an infertility-related mutation in mouse embryos
Bekaert, B., Boel, A., Rybouchkin, A., Cosemans, G., Declercq, S., Lopes, S. M. C. D. S., Parrington, J., Stoop, D., Coucke, P. J., Menten, B., et al. (2024) · Journal of Assisted Reproduction and Genetics · doi:10.1007/s10815-024-03095-9 · Cited by 4
Perspectives on CRISPR Genome Editing to Prevent Prion Diseases in High-Risk Individuals
Medd, M. M., & Cao, Q. (2024) · Biomedicines · doi:10.3390/biomedicines12081725 · Cited by 4
Emerging Techniques for the Study of Microglia: Visualization, Depletion and Fate MappingPreprint
Bobotis, B. C., Halvorson, T., Carrier, M., & Tremblay, M. (2023) · Preprints.org · doi:10.20944/preprints202308.2190.v1 · Cited by 3
Attenuation of mosaic aneuploidy and erroneous first mitotic division of human embryosPreprint
Currie, C. E., Byrska, A., Taylor, D. M., Erent, M., Bakalova, D. N., Sun, X., Koki, C., Burroughs, N. J., Anderson, R. A., Marston, A. L., et al. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.04.05.647367 · Cited by 4
Interallelic gene conversion of leukemia-associated single nucleotide variants
Silver, A. J., Brown, D. J., Olmstead, S. D., Watke, J., Gorska, A. E., Tanner, L., Ramsey, H. E., & Savona, M. R. (2025) · Gene · doi:10.1016/j.gene.2025.149493 · Cited by 3
Human 8-cell embryos enable efficient induction of disease-preventive mutations without off-target effect by cytosine base editor
Wei, Y., Zhang, M., Hu, J. T., Zhou, Y., Xue, M., Yin, J., Liu, Y., Feng, H., Zhou, L., Li, Z., et al. (2022) · Protein & Cell · doi:10.1093/procel/pwac043 · Cited by 3
Evaluation of guide-free Cas9-induced genomic damage and transcriptome changes in pig embryos
Ge, W., Zhao, X., Gou, S., Jin, Q., Chen, F., Ouyang, Z., Lai, C., Cui, T., Mai, B., Lü, S., et al. (2023) · Molecular Therapy — Nucleic Acids · doi:10.1016/j.omtn.2023.102035 · Cited by 3
Outlook on the Security and Potential Improvements of CRISPR–Cas9
Zha, M.-J., Cai, C., & He, P. (2023) · Molecular Biotechnology · doi:10.1007/s12033-023-00708-z · Cited by 3
Employing the CRISPR-Cas System for Clonal Hematopoiesis Research.
Ogawa, H., Sano, S., & Walsh, K. X. (2021) · PubMed · doi:10.35248/2329-9096.21.9.582 · Cited by 3
CRISPR editing as a therapeutic strategy for Duchenne muscular dystrophy—anti-Cas9 immune response casts its shadow over safety and efficacy
Dowling, J. J. (2022) · Gene Therapy · doi:10.1038/s41434-022-00323-8 · Cited by 3
Genome-wide Genetic Mutations Accumulated in Pigs Genome-edited for Xenotransplantation and Their Filial Generation
Huo, X., Sun, X., Xing, X., Lu, J., Zhang, J., Jiang, Y.-B., Zhu, X., Li, C., Lv, J., Guo, M., et al. (2025) · Genomics Proteomics & Bioinformatics · doi:10.1093/gpbjnl/qzaf071 · Cited by 6
Optical control of Cas9 activity through visible-light cleavable crRNAs
Hanff, V., Jerabek, S., Langer, K. A., Klimek, R., Kaufmann, J., Kim, J., Egli, D. M., & Heckel, A. (2026) · RSC Chemical Biology · doi:10.1039/d5cb00294j · Cited by 3
Self-citation
Target residence of Cas9: challenges and opportunities in genome editing
Feng, Y.-L., Wang, M., & Xie, A. (2022) · Genome Instability & Disease · doi:10.1007/s42764-022-00066-1 · Cited by 2
A Primer on Gene Editing: What Does It Mean for Pathologists?
Cushman‐Vokoun, A. M., Schmidt, R. J., Hiemenz, M., Fung, M. K. Y., Zhang, B. M., Bradshaw, G., Gandhi, M. J., Yao, J., Yohe, S. L., Beckman, A. K., et al. (2023) · Archives of Pathology & Laboratory Medicine · doi:10.5858/arpa.2022-0410-cp · Cited by 2
En route towards a personalized medicine approach: Innovative therapeutic modalities for connective tissue disorders
Redhead, C., Taye, N., & Hubmacher, D. (2023) · Matrix Biology · doi:10.1016/j.matbio.2023.08.005 · Cited by 2
Intrinsic deletion at 10q23.31, including the PTEN gene locus, is aggravated upon CRISPR-Cas9–mediated genome engineering in HAP1 cells mimicking cancer profiles
Geng, K., Merino, L. G., Veiga, R. G., Sommerauer, C., Epperlein, J., Brinkman, E. K., & Kutter, C. (2023) · Life Science Alliance · doi:10.26508/lsa.202302128 · Cited by 2
Whole genome sequencing of CCR5 CRISPR-Cas9-edited Mauritian cynomolgus macaque blastomeres reveals large-scale deletions and off-target edits
Schmidt, J. K., Kim, Y. H., Strelchenko, N. S., Gierczic, S. R., Pavelec, D. M., Golos, T. G., & Slukvin, I. I. (2023) · Frontiers in Genome Editing · doi:10.3389/fgeed.2022.1031275 · Cited by 2
Genome-Editing – Gentherapie 2.0 oder nur eine Wunschvorstellung?
Fehse, B., Grünewald, J., & Petri, K. (2023) · Springer eBooks · doi:10.1007/978-3-662-67908-1_7 · Cited by 2
Severe perinatal hydrops fetalis in genome edited pigs with a biallelic five base pair deletion of the Marfan syndrome gene, FBN1Preprint
Tsang, H., Lillico, S. G., Proudfoot, C., McCulloch, M. E. B., Markby, G. R., Trejo-Reveles, V., CORCORAN, B. M., Whitelaw, B., MacRae, V. E., & SUMMERS, K. M. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.07.20.213108 · Cited by 2
Therapeutic immune cell engineering with an mRNA : AAV- Sleeping Beauty composite systemPreprint
Ye, L., Lam, S. Z., Yang, L., Suzuki, K., Zou, Y., Lin, Q., Zhang, Y., Clark, P. R., Peng, L., & Chen, S. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.03.14.532651 · Cited by 2
A CRISPR-induced DNA break can trigger crossover, chromosomal loss and chromothripsis-like rearrangementsPreprint
Samach, A., Mafessoni, F., Gross, O., Melamed‐Bessudo, C., Hayut, S. F., Dahan‐Meir, T., Amsellem, Z., Pawlowski, W. P., & Levy, A. A. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.05.22.541757 · Cited by 2
Chromosome-level genome editing uncovers aneuploidy addiction in cancer
O’Brien, S., & Berger, A. H. (2023) · Cell Reports Methods · doi:10.1016/j.crmeth.2023.100618 · Cited by 1
Problems of liability for injury to the health caused by the use of genome editing systems of germ line cells
Amirov-Belova, D. (2023) · Legal Science in China and Russia · doi:10.17803/2587-9723.2022.5.093-103 · Cited by 1
Unexpected mutations occurred in CRISPR/Cas9 edited Drosophila analyzed by deeply whole genomic sequencing
Xiao, Z., Wu, Y., Zhang, X., Li, Z., Qiuyu, Z., Caijiao, H., Li, C., Shi, H., Deng, L., Chen, Z., et al. (2024) · Heliyon · doi:10.1016/j.heliyon.2024.e29061 · Cited by 1
Application of Repetitive Sequences in Fish Cell Depletion as a Target for the CRISPR/Cas9 System
Zhang, Y., Xia, H., Peng, W., Liu, L., Liu, L., & Yang, P. (2024) · Marine Biotechnology · doi:10.1007/s10126-024-10328-6 · Cited by 1
‘Emerging cell-specific therapies in cardiovascular disease’
Mondal, A. R., & Misra, A. (2025) · Vascular Pharmacology · doi:10.1016/j.vph.2025.107516 · Cited by 1
Review of Current Applications of CRISPR Gene Editing Techniques in Breast Cancer Therapeutics Development
Zhang, Y. (2025) · International Journal of Health Sciences and Research · doi:10.52403/ijhsr.20250745 · Cited by 1
CRISPR-based genome editing in human embryos: a review of efficiency, safety, and ethical implications
Yin, J., Wen, H., Zeng, J., Sun, Y., Chen, X., Jin, L. G., Song, Y., & Xia, S. (2026) · Biology of Reproduction · doi:10.1093/biolre/ioag056 · Cited by 1
In vivo adenine base editing of mutant Galc gene ameliorates Krabbe disease progression
Nam, B.-G., Seo, J., Hong, S.-A., Kim, J., Kang, M., Notario, G. R., Hong, Y., Cho, S., Bae, S., & Cho, S.-R. (2026) · Genome Medicine · doi:10.1186/s13073-026-01620-2 · Cited by 1
Human embryo editing: 10 years of breakthroughs and challenges
Zhou, Y., Xie, D., Ding, C., Wu, W., Cao, T., Liu, Q., Keefe, D. L., 周灿权, & Huang, J. (2026) · Protein & Cell · doi:10.1093/procel/pwag030 · Cited by 1
Asymmetric attrition and secondary chromosome destabilization after double-strand breaks in human embryonic development
Turocy, J. M., Jerabek, S., Hur, W., Kim, J., Xu, S., Zhao, Q., Xu, J. L., Robles, A., Liu, X., Treff, N. R., et al. (2026) · Nature Communications · doi:10.1038/s41467-026-73891-7 · Cited by 2
Self-citation
Ovarian ageing: from biological constraint to emerging therapeutic frontier
Mondal, R., & Nandi, M. (2026) · Journal of Assisted Reproduction and Genetics · doi:10.1007/s10815-026-04011-z · Cited by 1
Highly efficient base editing at PCSK9 and normal human embryo development
Jerabek, S., Jung, C., Kappy, M. D., Zhao, Q., Sung, J., Wang, N., Kim, E., Kim, J., Kulmann, M. I. R., King, M. B., et al. (2026) · Nature · doi:10.1038/s41586-026-11118-x · Cited by 1
Self-citation
The acceptance to germline gene therapy increased during COVID ‐19 pandemic among Japanese medical students
Ijuin, A., Hayama, T., & Sakakibara, H. (2022) · Journal of obstetrics and gynaecology research · doi:10.1111/jog.15246 · Cited by 1
The history and future of in vitro fertilization in the United States: the complex interrelationships among basic science, human medicine, and politics
Rebar, R. W., & Keator, C. S. (2023) · F&S Science · doi:10.1016/j.xfss.2023.03.001 · Cited by 1
Current trends and risks associated with the use of therapies based on genome editing
Анатольевна, Р. О., Melnikova, E. V., & Меркулов, В. А. (2023) · Biological Products Prevention Diagnosis Treatment · doi:10.30895/2221-996x-2023-23-3-247-261 · Cited by 2
Genome instability in mammalian embryos implications for genome editing, development, and evolution
Liu, X., Xu, S., & Egli, D. M. (2025) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2025.102395 · Cited by 1
Self-citation
Recent Progress in Genome Editing for Gene Therapy Applications: The French Perspective
Amendola, M., Bedel, A., Buj‐Bello, A., Carrara, M., Concordet, J., Frati, G., Gilot, D., Giovannangeli, C., Gutiérrez-Guerrero, A., Laurent, M., et al. (2021) · Human Gene Therapy · doi:10.1089/hum.2021.191 · Cited by 2
Genome-wide genetic mutations accumulated in genome-edited pigs and their filial generation for xenotransplantationPreprint
Du, X., Huo, X., Sun, X., Xing, X., Lü, J., Zhang, J., Jiang, Y., Zhu, X., Li, C., Lv, J., et al. (2023) · Research Square · doi:10.21203/rs.3.rs-3139100/v1 · Cited by 1
Quantitative analysis of the frequency of chromosome loss following DSB inductionPreprint
Matsuno, S., Ishida, R., Kawasumi, R., Hirota, K., & Abe, T. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.01.15.633104 · Cited by 1
Highway to HHGE: An Interview with Dame Kay E. Davies
Davies, K., & Davies, K. E. (2020) · The CRISPR Journal · doi:10.1089/crispr.2020.29104.kda
Simple and Efficient Custom Transcription Activator-Like Effector Gene Synthesis Via Twin Primer Assembly
Wang, S., Yu, Y., Pan, Y., Wang, H., Zhao, Y., Qu, M., & Zhu, Y. (2021) · BioTechniques · doi:10.2144/btn-2020-0130
Milestones of CRISPR/Cas9 system, promises and roadblocks
Karabiyik, G. (2021) · Cancer Treatment and Research Communications · doi:10.1016/j.ctarc.2021.100304
Issues in the Clinical Use of Genome Editing in Human Embryos From a Medical Perspective
Akutsu, H. (2020) · TRENDS IN THE SCIENCES · doi:10.5363/tits.25.10_19
A novel test for annexin A5 M2 haplotyping in in vitro fertilization patients and preimplantation embryos
Rana, B., Zimmerman, R., Marín, D., Xu, J. L., Messick, E., Fishel, S. B., & Treff, N. R. (2021) · F&S Science · doi:10.1016/j.xfss.2021.06.001
Self-citation
Targeting Alzheimer’s disease and related dementias with CRISPR and human pluripotent stem cell technologies
Sproul, A. A. (2021) · Elsevier eBooks · doi:10.1016/b978-0-12-817876-8.00002-4
Investigating Disease Presentation and Mechanism in RP1L1-Associated Photoreceptor Degeneration
Noel, N. C. L. (2021) · ERA: Education and Research Archive (University of Alberta) · doi:10.7939/r3-6bg3-1e79
Chapter 1: The Emergence of Self-Spreading Biotechnology
Beck, F. (2022) · Nomos Verlagsgesellschaft mbH & Co. KG eBooks · doi:10.5771/9783748913528-47
Utilizing cell-free DNA to validate targeted disruption of MYO7A in rhesus macaque pre-implantation embryos
Ryu, J., Burch, F. C., Mishler, E., Neuringer, M. D., Hennebold, J. D., & Hanna, C. B. (2022) · Journal of Animal Reproduciton and Biotechnology · doi:10.12750/jarb.37.4.292
Future Technological Advancements
Doxzen, K. W. (2023) · Oxford University Press eBooks · doi:10.1093/oso/9780197616192.003.0011
Using CRISPR-Cas9 In Human Fetuses to Prevent Trisomy 16 and Trisomy 22 Induced Miscarriages
Qin, E., & Guilz, N. C. (2022) · Journal of Student Research · doi:10.47611/jsrhs.v11i4.3859
Application of new technologies in embryos: From gene editing to synthetic embryos
Martin‐Inaraja, M., Romayor, I., Herrera, L., Montserrat, N., & Eguizábal, C. (2023) · Elsevier eBooks · doi:10.1016/b978-0-323-91380-5.00032-0
CRISPR technology and its potential role in treating rare imprinting diseases
Nickl, P., Syding, L. A., & Sedláček, R. (2023) · Principles of Gender-Specific Medicine · doi:10.1016/b978-0-323-88534-8.00044-4
The Applications of CRISPR/Cas9 System for Urinary System Tumor
Li, S., Wu, Y., & Wang, X. (2023) · Current Topics in Medicinal Chemistry · doi:10.2174/1568026623666230504100706
microsSpecific short tandem repeat loci detection in prenatal diagnosis of fetal chromosomal diseases
Cao, X., Liu, J., Ling, M., Chen, H., Mao, Y., Cui, A., & Jiang, H. (2023) · Cellular and Molecular Biology · doi:10.14715/cmb/2023.69.2.19
CRISPR/Cas-mediated genome editing and its application on pig-to-human xenotransplantation
Zeng, Y. (2023) · International Conference on Modern Medicine and Global Health (ICMMGH) · doi:10.1117/12.3000215
Cis-regulatory modes of Ultrabithorax inactivation in butterfly forewingsPreprint
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.90846.1
Adenine base editing corrects point mutation in mitochondrial single-stranded binding protein ( SSBP1 ) to improve mitochondrial functionPreprint
Cha, J. H., Lee, S., Yun, Y., Choi, W. H., Koo, H., Jung, S. H., Chae, H. B., Lee, D. H., Lee, S. J., Jo, D. H., et al. (2023) · medRxiv · doi:10.1101/2023.11.02.23297943
Understanding genetic heterogeneity in gene-edited hematopoietic stem cell products
Becker, H., & Yamazaki, S. (2023) · Experimental Hematology · doi:10.1016/j.exphem.2023.11.007 · Cited by 1
eLife Assessment: Cis-regulatory modes of Ultrabithorax inactivation in butterfly forewings
Chipman, A. D. (2024) · eLife · doi:10.7554/elife.90846.2.sa1
Author Response: 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. (2024) · eLife · doi:10.7554/elife.90846.2.sa2
Joint Public Review: Cis-regulatory modes of Ultrabithorax inactivation in butterfly forewings
(2024) · eLife · doi:10.7554/elife.90846.2.sa0
iPSC Models of Ring Chromosomes, Genome Editing, and Chromosome Therapy
Tv, N., & Лебедев, И. Н. (2024) · Springer eBooks · doi:10.1007/978-3-031-47530-6_34
Additional file 3 of Target residence of Cas9-sgRNA influences DNA double-strand break repair pathway choices in CRISPR/Cas9 genome editing
Liu, S., Feng, Y.-L., Sun, X., Chen, R.-D., Liu, Q., Xiao, J., Zhang, J., Huang, Z., Xiang, J.-F., Chen, G., et al. (2022) · Figshare · doi:10.6084/m9.figshare.20418213
Additional file 4 of Target residence of Cas9-sgRNA influences DNA double-strand break repair pathway choices in CRISPR/Cas9 genome editing
Liu, S., Feng, Y.-L., Sun, X., Chen, R.-D., Liu, Q., Xiao, J., Zhang, J., Huang, Z., Xiang, J.-F., Chen, G., et al. (2022) · Figshare · doi:10.6084/m9.figshare.20418216
Repair of leukemia-associated single nucleotide variants via interallelic gene conversionPreprint
Silver, A. J., Brown, D. J., Olmstead, S. D., Watke, J., Gorska, A. E., Tanner, L., Ramsey, H. E., & Savona, M. R. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.04.16.587991
CRISPR/Cas9-based genetic engineering for translational research in neurological disorders
Megagiannis, P., Rouleau, G. A., & Zhou, Y. (2024) · Elsevier eBooks · doi:10.1016/b978-0-443-19041-4.00021-2
PROTAC molecule-mediated SpCas9 protein degradation for precise genome editingPreprint
Sun, S., Sun, R., Tan, M., Kip, M., Yang, X., & Pang, B. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.01.07.631496
CRISPR: fundamental principles and implications for anaesthesia
Perez, A. R., Mavrothalassitis, O., Chen, J. S., Hellman, J., & Gropper, M. A. (2025) · British Journal of Anaesthesia · doi:10.1016/j.bja.2024.11.040
PAMless and precise sequence replacement by gdt/Cas3 or gdt/Cas9 ribonucleoproteinPreprint
Li, R., Qi, Z., Wanghuang, Y., Wu, D., Xu, Y., Tang, W., Chen, X., Hu, X., Zou, G., Hua, J., et al. (2025) · Research Square · doi:10.21203/rs.3.rs-7640593/v1
Chapter 7: Novel Biological Therapies
Blind, J. E., & McConnell, K. (2025) · The American Pharmacists Association eBooks · doi:10.21019/9781582120904.ch7
Nuclear Localization Signals Enable the Cellular Delivery of an Anti-CRISPR Protein to Control Genome Editing
Vera, A. O., Avilés-Vázquez, F. J., Ha, T., Choudhary, A., & Raines, R. T. (2026) · Journal of the American Chemical Society · doi:10.1021/jacs.5c19089
Unveiling genomic rearrangements in engineered iPSC lines by optical genome mapping
Finlay, D., Hor, P., Goldenson, B., Li, X., Murad, R., Kaufman, D. S., & Vuori, K. (2025) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2025.101644
Additional file 1 of A benchmark of computational methods for correcting biases of established and unknown origin in CRISPR-Cas9 screening data
Vinceti, A., Iannuzzi, R. M., Boyle, I., Trastulla, L., Campbell, C. D., Vázquez, F., Dempster, J. M., & Iorio, F. (2024) · Figshare · doi:10.6084/m9.figshare.26751610
Additional file 6 of Target residence of Cas9-sgRNA influences DNA double-strand break repair pathway choices in CRISPR/Cas9 genome editing
Liu, S.-C., Feng, Y.-L., Sun, X.-N., Chen, R.-D., Liu, Q., Xiao, J.-J., Zhang, J.-N., Huang, Z.-C., Xiang, J.-F., Chen, G., et al. (2022) · Figshare · doi:10.6084/m9.figshare.20418222
Additional file 1 of Effective control of large deletions after double-strand breaks by homology-directed repair and dsODN insertion
Wen, W., Quan, Z.-J., Li, S.-A., Yang, Z.-X., Fu, Y.-W., Zhang, F., Li, G.-H., Zhao, M., Yin, M.-D., Xu, J., et al. (2021) · Figshare · doi:10.6084/m9.figshare.15982471
Self-citation
Additional file 3 of Modulation of the microhomology-mediated end joining pathway suppresses large deletions and enhances homology-directed repair following CRISPR-Cas9-induced DNA breaks
Yuan, B., Bi, C., Tian, Y., Wang, J., Jin, Y., Alsayegh, K. N., Tehseen, M., Yi, G., Zhou, X., Shao, Y., et al. (2024) · Figshare · doi:10.6084/m9.figshare.26714065
Additional file 7 of Target residence of Cas9-sgRNA influences DNA double-strand break repair pathway choices in CRISPR/Cas9 genome editing
Liu, S.-C., Feng, Y.-L., Sun, X.-N., Chen, R.-D., Liu, Q., Xiao, J.-J., Zhang, J.-N., Huang, Z.-C., Xiang, J.-F., Chen, G., et al. (2022) · Figshare · doi:10.6084/m9.figshare.20418225
Additional file 2 of Modulation of the microhomology-mediated end joining pathway suppresses large deletions and enhances homology-directed repair following CRISPR-Cas9-induced DNA breaks
Yuan, B., Bi, C., Tian, Y., Wang, J., Jin, Y., Alsayegh, K. N., Tehseen, M., Yi, G., Zhou, X., Shao, Y., et al. (2024) · Figshare · doi:10.6084/m9.figshare.25720308
Additional file 1 of Modulation of the microhomology-mediated end joining pathway suppresses large deletions and enhances homology-directed repair following CRISPR-Cas9-induced DNA breaks
Yuan, B., Bi, C., Tian, Y., Wang, J., Jin, Y., Alsayegh, K. N., Tehseen, M., Yi, G., Zhou, X., Shao, Y., et al. (2024) · Figshare · doi:10.6084/m9.figshare.25720174
Additional file 2 of Target residence of Cas9-sgRNA influences DNA double-strand break repair pathway choices in CRISPR/Cas9 genome editing
Liu, S.-C., Feng, Y.-L., Sun, X.-N., Chen, R.-D., Liu, Q., Xiao, J.-J., Zhang, J.-N., Huang, Z.-C., Xiang, J.-F., Chen, G., et al. (2022) · Figshare · doi:10.6084/m9.figshare.20418210
Additional file 2 of Decoding the complexity of on-target integration: characterizing DNA insertions at the CRISPR-Cas9 targeted locus using nanopore sequencing
Zhao, J.-J., Sun, X.-Y., Tian, S.-N., Zhao, Z.-Z., Yin, M.-D., Zhao, M., Zhang, F., Li, S.-A., Yang, Z.-X., Wen, W., et al. (2024) · Figshare · doi:10.6084/m9.figshare.25239456
Additional file 1 of Target residence of Cas9-sgRNA influences DNA double-strand break repair pathway choices in CRISPR/Cas9 genome editing
Liu, S.-C., Feng, Y.-L., Sun, X.-N., Chen, R.-D., Liu, Q., Xiao, J.-J., Zhang, J.-N., Huang, Z.-C., Xiang, J.-F., Chen, G., et al. (2022) · Figshare · doi:10.6084/m9.figshare.20418207
Additional file 1 of Decoding the complexity of on-target integration: characterizing DNA insertions at the CRISPR-Cas9 targeted locus using nanopore sequencing
Zhao, J.-J., Sun, X.-Y., Tian, S.-N., Zhao, Z.-Z., Yin, M.-D., Zhao, M., Zhang, F., Li, S.-A., Yang, Z.-X., Wen, W., et al. (2024) · Figshare · doi:10.6084/m9.figshare.25239409
Additional file 1 of CRISPR/Cas9-mediated gene knockout and interallelic gene conversion in human induced pluripotent stem cells using non-integrative bacteriophage-chimeric retrovirus-like particles
Mianné, J., Nasri, A., Van, C. N., Bourguignon, C., Fieldès, M., Ahmed, E., Duthoit, C. T., Martin, N., Parrinello, H., Louis, A., et al. (2022) · Figshare · doi:10.6084/m9.figshare.18070820
Additional file 2 of A benchmark of computational methods for correcting biases of established and unknown origin in CRISPR-Cas9 screening data
Vinceti, A., Iannuzzi, R. M., Boyle, I., Trastulla, L., Campbell, C. D., Vázquez, F., Dempster, J. M., & Iorio, F. (2024) · Figshare · doi:10.6084/m9.figshare.26751613
Additional file 5 of Target residence of Cas9-sgRNA influences DNA double-strand break repair pathway choices in CRISPR/Cas9 genome editing
Liu, S.-C., Feng, Y.-L., Sun, X.-N., Chen, R.-D., Liu, Q., Xiao, J.-J., Zhang, J.-N., Huang, Z.-C., Xiang, J.-F., Chen, G., et al. (2022) · Figshare · doi:10.6084/m9.figshare.20418219
Additional file 2 of Effective control of large deletions after double-strand breaks by homology-directed repair and dsODN insertion
Wen, W., Quan, Z.-J., Li, S.-A., Yang, Z.-X., Fu, Y.-W., Zhang, F., Li, G.-H., Zhao, M., Yin, M.-D., Xu, J., et al. (2021) · Figshare · doi:10.6084/m9.figshare.15982474
Self-citation
CRISPR-Cas9 Technology for Combating Genetic Disorders
Sharma, A. K., & Singh, P. (2026) · IGI Global eBooks · doi:10.4018/979-8-3373-4857-5.ch005
Gene-Editing-Based Approaches for Curing Sickle Cell Disease
Park, S. H., Karsenty, C. L., Prasca-Chamorro, D., Moyo, B., Yoo, B., & Bao, G. (2026) · Springer eBooks · doi:10.1007/978-3-032-12532-3_8
Factors that contribute to B cell oncogenesis in people living with HIV
Shmakova, A. (2023) · theses.fr (ABES) · doi:10.70675/1d51b9d6z9a12z41f9z8f98z0c7f955aeb54
A fast-to-faithful transition shapes the DNA repair landscape during embryogenesisPreprint
Wang, S., Pantziris, I., Zhang, M., Liu, Y., & Gagnon, J. A. (2026) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2026.04.22.720229
Different Types of Gene Therapy
Kumar, S. (2026) · Springer eBooks · doi:10.1007/978-981-95-7688-3_2
Endogenous cell competition kills pathogenic de novo mutant cells but declines under pH stressPreprint
Akieda, Y., Ukawa, H., Watanabe, N., & Ishitani, T. (2026) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2026.04.27.721036
Genome-wide mapping of Cas9-induced sister chromatid exchange across single and over 200 genomic sites in human cells
Chovanec, P., He, S., & Yin, Y. (2026) · eLife · doi:10.7554/elife.112073
Emerging Bioengineering Technologies in Female Reproduction: Preclinical Advances, Translational Challenges, and Future Outlook
Nguyen, T. H., Nguyen, H. A., Thi, Y.-V. T., Nguyen, H. T., Cao, A., Do, Q. L., Bui, T. T., Duc, T. C., & Cao, H. (2026) · Biotechnology Journal · doi:10.1002/biot.70274
Introduction to rare genetic diseases in fetal development
Bashir, A. (2026) · Elsevier eBooks · doi:10.1016/b978-0-443-27660-6.00007-9
Genetic Engineering of Tumor‐Infiltrating Lymphocytes ( TIL ) via a T‐Editor Platform to Enhance Anti‐Tumor Activity
Li, F., Ma, X., Xue, Y., Yang, J., Wang, R., Li, X., Zhang, C., Lu, W., Liu, M., Xu, Y., et al. (2026) · Cancer Science · doi:10.1111/cas.70502

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: Zuccaro, Michael V.
Xu, Jia
Mitchell, Carl
Marin, Diego
Weinstein, Everett
King, Rebeca T.
Palmerola, Katherine L.
Smith, Morgan E.
Tsang, Stephen H.
Jasin, Maria
Treff, Nathan
Egli, Dieter
Venue: Cell
Publisher: Elsevier BV
Published: 2020-12
Volume: 183
Issue: 6
Pages: 1650-1664.e15
ISSN: 0092-8674 (ISSN-L)
DOI: 10.1016/j.cell.2020.10.025
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: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/legal/tdmrep-license (tdm)
www.elsevier.com/open-access/userlicense/1.0/ (vor, 374 d)
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

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

Allele-Specific Chromosome Removal after Cas9 Cleavage in Human Embryos

Abstract

Overview

Integrity signals

Verification

Claims the paper makes

Claims other papers make about this one

Self-check

Citations

Cites

Cited by

Related

Metadata

Record

About these checks