2025

Arnadottir, G. A., Jonsson, H., Hartwig, T. S., Gruhn, J. R., Møller, P. L., Gylfason, A., Westergaard, D., Chan, A. C., Oddsson, A., Stefansdottir, L., Roux, L. L., Steinthorsdottir, V., Swerford Moore, K. H., Olafsson, S., Olason, P. I., Eggertsson, H. P., Halldórsson, G. H., Walters, G. B., Stefansson, H., Gudjonsson, S. A., … Stefansson, K. (2025). Sequence diversity lost in early pregnancy. Nature, 642(8068), 672–681. https://doi.org/10.1038/s41586-025-09031-w

Zhao, Y., Fernández-Montoro, A., Peeters, G., Jatsenko, T., De Coster, T., Angel-Velez, D., Lefevre, T., Voet, T., Tšuiko, O., Kurg, A., Smits, K., Van Soom, A., & Vermeesch, J. R. (2025). Origin and development of uniparental and polyploid blastomeres. iScience, 28(5), 112337. https://doi.org/10.1016/j.isci.2025.112337

de Quadros, E., Xu, J., Treff, N., Marin, D., Freedman, A., Milevski, C., Miller, K., & Bian, M. (2025). Blastocyst segmental aneuploidy breakpoints are highly correlated with human genome fragile sites. Human reproduction (Oxford, England), deaf151. Advance online publication. https://doi.org/10.1093/humrep/deaf151

Yang, Q., Carioscia, S. A., Isada, M., & McCoy, R. C. (2025). Approximate Bayesian computation supports a high incidence of chromosomal mosaicism in blastocyst-stage human embryos. Genetics, iyaf149. Advance online publication. https://doi.org/10.1093/genetics/iyaf149

Zhao, Y., Tsuiko, O., Jatsenko, T., Peeters, G., Souche, E., Geysens, M., Dimitriadou, E., Vanhie, A., Peeraer, K., Debrock, S., Van Esch, H., & Vermeesch, J. R. (2025). Long-read whole-genome sequencing-based concurrent haplotyping and aneuploidy profiling of single cells. Nucleic acids research, 53(6), gkaf247. https://doi.org/10.1093/nar/gkaf247

Vervoort, L., Dierckxsens, N., Sousa Santos, M., Meynants, S., Souche, E., Cools, R., Heung, T., Devriendt, K., Peeters, H., McDonald-McGinn, D. M., Swillen, A., Breckpot, J., Emanuel, B. S., Van Esch, H., Bassett, A. S., & Vermeesch, J. R. (2025). Multiple paralogs and recombination mechanisms contribute to the high incidence of 22q11.2 deletion syndrome. Genome research, 35(4), 786–797. https://doi.org/10.1101/gr.279331.124

2024

Biswas, L., Tyc, K. M., Aboelenain, M., Sun, S., Dundović, I., Vukušić, K., Liu, J., Guo, V., Xu, M., Scott, R. T., Jr, Tao, X., Tolić, I. M., Xing, J., & Schindler, K. (2024). Maternal genetic variants in kinesin motor domains prematurely increase egg aneuploidy. Proceedings of the National Academy of Sciences of the United States of America, 121(45), e2414963121. https://doi.org/10.1073/pnas.2414963121

Sun, S., Defosse, T., Boyd, A., Sop, J., Verderose, F., Surray, D., Aziz, M., Howland, M., Wu, S., Changela, N., Jang, J., Schindler, K., Xing, J., & McKim, K. S. (2024). Whole transcriptome screening for novel genes involved in meiosis and fertility in Drosophila melanogaster. Scientific reports, 14(1), 3602. https://doi.org/10.1038/s41598-024-53346-z

Ariad, D., Madjunkova, S., Madjunkov, M., Chen, S., Abramov, R., Librach, C., & McCoy, R. C. (2024). Aberrant landscapes of maternal meiotic crossovers contribute to aneuploidies in human embryos. Genome research, 34(1), 70–84. https://doi.org/10.1101/gr.278168.123

2023

Sun, S., Aboelenain, M., Ariad, D., Haywood, M. E., Wageman, C. R., Duke, M., Bag, A., Viotti, M., Katz-Jaffe, M., McCoy, R. C., Schindler, K., & Xing, J. (2023). Identifying risk variants for embryo aneuploidy using ultra-low coverage whole-genome sequencing from preimplantation genetic testing. American journal of human genetics, 110(12), 2092–2102. https://doi.org/10.1016/j.ajhg.2023.11.002

McCoy, R. C., Summers, M. C., McCollin, A., Ottolini, C. S., Ahuja, K., & Handyside, A. H. (2023). Meiotic and mitotic aneuploidies drive arrest of in vitro fertilized human preimplantation embryos. Genome medicine, 15(1), 77. https://doi.org/10.1186/s13073-023-01231-1

Muter, J., Lynch, V. J., McCoy, R. C., & Brosens, J. J. (2023). Human embryo implantation. Development (Cambridge, England), 150(10), dev201507. https://doi.org/10.1242/dev.201507

Rana, B., Lambrese, K., Mendola, R., Xu, J., Garrisi, J., Miller, K., Marin, D., & Treff, N. R. (2023). Identifying parental and cell-division origins of aneuploidy in the human blastocyst. American journal of human genetics, 110(4), 565–574. https://doi.org/10.1016/j.ajhg.2023.03.003

2022

De Coster, T., Masset, H., Tšuiko, O., Catteeuw, M., Zhao, Y., Dierckxsens, N., Aparicio, A. L., Dimitriadou, E., Debrock, S., Peeraer, K., de Ruijter-Villani, M., Smits, K., Van Soom, A., & Vermeesch, J. R. (2022). Parental genomes segregate into distinct blastomeres during multipolar zygotic divisions leading to mixoploid and chimeric blastocysts. Genome biology, 23(1), 201. https://doi.org/10.1186/s13059-022-02763-2

Sun, S., Miller, M., Wang, Y., Tyc, K. M., Cao, X., Scott, R. T., Jr, Tao, X., Bromberg, Y., Schindler, K., & Xing, J. (2022). Predicting embryonic aneuploidy rate in IVF patients using whole-exome sequencing. Human genetics, 141(10), 1615–1627. https://doi.org/10.1007/s00439-022-02450-z

Blengini, C. S., & Schindler, K. (2022). Acentriolar spindle assembly in mammalian female meiosis and the consequences of its perturbations on human reproduction†. Biology of reproduction, 106(2), 253–263. https://doi.org/10.1093/biolre/ioab210

Capalbo, A., Poli, M., Jalas, C., Forman, E. J., & Treff, N. R. (2022). On the reproductive capabilities of aneuploid human preimplantation embryos. American journal of human genetics, 109(9), 1572–1581. https://doi.org/10.1016/j.ajhg.2022.07.009

2021

Special Topic Issue: Origins of Aneuploidy. (2021). Prenatal Diagnosis, 41(5), 517-646.

Capalbo, A., Poli, M., Rienzi, L., Girardi, L., Patassini, C., Fabiani, M., Cimadomo, D., Benini, F., Farcomeni, A., Cuzzi, J., Rubio, C., Albani, E., Sacchi, L., Vaiarelli, A., Figliuzzi, M., Findikli, N., Coban, O., Boynukalin, F. K., Vogel, I., Hoffmann, E., … Simón, C. (2021). Mosaic human preimplantation embryos and their developmental potential in a prospective, non-selection clinical trial. American journal of human genetics, 108(12), 2238–2247. https://doi.org/10.1016/j.ajhg.2021.11.002

Masset, H., Tšuiko, O., & Vermeesch, J. R. (2021). Genome-wide abnormalities in embryos: Origins and clinical consequences. Prenatal diagnosis, 10.1002/pd.5895. Advance online publication. https://doi.org/10.1002/pd.5895

Hassold, T. J., & Hunt, P. A. (2021). Missed connections: Recombination and human aneuploidy. Prenatal diagnosis, 10.1002/pd.5910. Advance online publication. https://doi.org/10.1002/pd.5910

Ariad, D., Yan, S. M., Victor, A. R., Barnes, F. L., Zouves, C. G., Viotti, M., & McCoy, R. C. (2021). Haplotype-aware inference of human chromosome abnormalities. Proceedings of the National Academy of Sciences of the United States of America, 118(46), e2109307118. https://doi.org/10.1073/pnas.2109307118

Viotti, M., McCoy, R. C., Griffin, D. K., Spinella, F., Greco, E., Madjunkov, M., Madjunkova, S., Librach, C. L., Victor, A. R., Barnes, F. L., & Zouves, C. G. (2021). Let the data do the talking: the need to consider mosaicism during embryo selection. Fertility and sterility, 116(5), 1212–1219. https://doi.org/10.1016/j.fertnstert.2021.09.008

Quenby, S., Gallos, I. D., Dhillon-Smith, R. K., Podesek, M., Stephenson, M. D., Fisher, J., Brosens, J. J., Brewin, J., Ramhorst, R., Lucas, E. S., McCoy, R. C., Anderson, R., Daher, S., Regan, L., Al-Memar, M., Bourne, T., MacIntyre, D. A., Rai, R., Christiansen, O. B., Sugiura-Ogasawara, M., … Coomarasamy, A. (2021). Miscarriage matters: the epidemiological, physical, psychological, and economic costs of early pregnancy loss. Lancet (London, England), 397(10285), 1658–1667. https://doi.org/10.1016/S0140-6736(21)00682-6

Tšuiko, O., Vanneste, M., Melotte, C., Ding, J., Debrock, S., Masset, H., Peters, M., Salumets, A., De Leener, A., Pirard, C., Kluyskens, C., Hostens, K., van de Vijver, A., Peeraer, K., Denayer, E., Vermeesch, J. R., & Dimitriadou, E. (2021). Haplotyping-based preimplantation genetic testing reveals parent-of-origin specific mechanisms of aneuploidy formation. NPJ genomic medicine, 6(1), 81. https://doi.org/10.1038/s41525-021-00246-0

2020

Special Topic Issue: Preimplantation genetic testing. (2020). Reproduction (Cambridge, England), 160(5).

Girardi, L., Serdarogullari, M., Patassini, C., Poli, M., Fabiani, M., Caroselli, S., Coban, O., Findikli, N., Boynukalin, F. K., Bahceci, M., Chopra, R., Canipari, R., Cimadomo, D., Rienzi, L., Ubaldi, F., Hoffmann, E., Rubio, C., Simon, C., & Capalbo, A. (2020). Incidence, Origin, and Predictive Model for the Detection and Clinical Management of Segmental Aneuploidies in Human Embryos. American journal of human genetics, 106(4), 525–534. https://doi.org/10.1016/j.ajhg.2020.03.005

Tyc, K. M., McCoy, R. C., Schindler, K., & Xing, J. (2020). Mathematical modeling of human oocyte aneuploidy. Proceedings of the National Academy of Sciences of the United States of America, 117(19), 10455–10464. https://doi.org/10.1073/pnas.1912853117

Starostik, M. R., Sosina, O. A., & McCoy, R. C. (2020). Single-cell analysis of human embryos reveals diverse patterns of aneuploidy and mosaicism. Genome research, 30(6), 814–825. https://doi.org/10.1101/gr.262774.120

2019

Gruhn, J. R., Zielinska, A. P., Shukla, V., Blanshard, R., Capalbo, A., Cimadomo, D., Nikiforov, D., Chan, A. C., Newnham, L. J., Vogel, I., Scarica, C., Krapchev, M., Taylor, D., Kristensen, S. G., Cheng, J., Ernst, E., Bjørn, A. B., Colmorn, L. B., Blayney, M., Elder, K., … Hoffmann, E. R. (2019). Chromosome errors in human eggs shape natural fertility over reproductive life span. Science (New York, N.Y.), 365(6460), 1466–1469. https://doi.org/10.1126/science.aav7321

2018

McCoy, R. C., Newnham, L. J., Ottolini, C. S., Hoffmann, E. R., Chatzimeletiou, K., Cornejo, O. E., Zhan, Q., Zaninovic, N., Rosenwaks, Z., Petrov, D. A., Demko, Z. P., Sigurjonsson, S., & Handyside, A. H. (2018). Tripolar chromosome segregation drives the association between maternal genotype at variants spanning PLK4 and aneuploidy in human preimplantation embryos. Human molecular genetics, 27(14), 2573–2585. https://doi.org/10.1093/hmg/ddy147