Our lab investigates the genetics and mechanisms of reproduction, meiosis, and genome maintenance.  A major focus concerns checkpoint mechanisms that detect errors in germ cell development so as to protect against chromosome aberrations and birth defects in offspring. We also study how defects in DNA replication lead to genetic aberrations, developmental abnormalities, and cancer. Finally, we have undertaken a project to identify human infertility alleles in human populations using CRISPR-mediated modeling in mice.

I have taught the course BioMG Genomics 4000/6000 for the past 19 years.  The students are either undergrads (4000) or graduate students (6000). The course coverage a wide range of modern genomic technologies and how they are used to ask various biological questions. 

• BA, Rutgers University
• PhD, University of Cincinnati Childrens Hospital
• Post Doc, Princeton University

• 1987 - 1992 Assistant Professor, Department of Genetics, Case Western Reserve University
• 1992 - 2004 Staff Scientist, The Jackson Laboratory
• 2004 - 2019 Director, Cornell Center for Vertebrate Genomics
• 2004 - Present Professor of Genetics, Cornell University

1. McNairn, A., Chuang, C., Bloom, J., Wallace, M. and Schimenti, J. (2019) Female-biased embryonic death from inflammation induced by genomic instability. Nature, 567: 105-108. PMC6497049.

2. Tran, T. and Schimenti, J. (2019) A segregating human allele of SPO11 modeled in mice disrupts timing and amounts of meiotic recombination, causing oligospermia and a decreased ovarian reserve. Biol. Reprod. 101: 347-359.

3. Singh, P., Patel, R., Palmer, N., Grenier, J., Paduch, D., Kaldis, P., Grimson, A. and Schimenti, J. (2019) CDK2 kinase activity regulates male germ cell fate.  Development 146: dev180273. doi: 10.1242/dev.180273 PMCID: PMC6857589

4. Rinaldi, V., Bloom, J. and Schimenti, J. (2020) Signaling to TRP53 and TAp63 from CHK1/CHK2 is responsible for elimination of most oocytes defective for either chromosome synapsis or recombination. Genetics, 215:373-8. PMC7268994.

5. Yamulla, R., Nalubola, S., Flesken-Nikitin, A., Nikitin, A.Y. and Schimenti, J. (2020) Most commonly mutated genes in High Grade Serous Ovarian Carcinoma are nonessential for ovarian surface epithelial stem cell transformation. Cell Reports 32:108086. PMC7545232

6. Palmer, N., Talib, S., Singh, P., Goh, C., Liu, K., Schimenti, J. and Kaldis P. (2020) A novel function for CDK2 activity at meiotic crossover sites. Current Biology.

7. Ding, X., Fragoza, R., Singh, P., Zhang, S., Yu, H. and Schimenti, J. (2020) Variants in RABL2A causing male infertility and ciliopathy. Hum Mol Genet, 29: 3402-3411.

8. Bloom, J. and Schimenti, J. (2020) Sexually dimorphic DNA damage responses and mutation avoidance in the mouse germline. Genes & Development, 34:1637-1649.

9. Ding, X. and Schimenti, J. (2021) Strategies to identify genetic variants causing infertility.  Trends Mol Med, doi: 10.1016/j.molmed.2020.12.008.

10. Singh, P., Fragoza, R,  Blengini, C., Tran, T., Pannafino, G., Al-Sweel, N.,  Schimenti, K., Schindler, K.,  Alani, E., Yu, H., and Schimenti, J. (2021) MLH1/3 variants causing aneuploidy, pregnancy loss, and premature reproductive aging. Nature Comm, 12:5005. PMC8373927

11. Munisha, M and Schimenti, J. (2021) Genome maintenance during embryogenesis. DNA Repair 106:103195.  PMID: 34358805.

12. Schimenti, J., Huang, R., Li, L, and James, R.  (2022) Genome maintenance in mammalian stem cells. Ann. Rev. Genetics doi: 10.1146/annurev-genet-072920-022154. PMID: 35977408

13. Ding, X., Singh, P., Tran, T., Fragoza, R., Hardy, J., Orwig, K., Olszewska, M., Kurpisc, M., Yatsenko, A., Conrad, D., Yu, H. and Schimenti, J. In vivo versus in silico assessment of potentially pathogenic missense variants in human reproductive genes. (2023) PNAS, 120(30): 2219925120. PMC10372637.

14. Ding, X. and Schimenti J. (2023) Female infertility from oocyte maturation arrest: assembling the genetic puzzle. EMBO Molec. Medicine e17729.

15. Gao, J., Qin, Y. and Schimenti, J.  Gene regulation during meiosis. (2024). Trends in Genetics, DOI:https://doi.org/10.1016/j.tig.2023.12.006.

16. Ding, X., Li, L. Gao, J., Yi, D. and Schimenti, J. (2024). Scalable and efficient generation of mouse primordial germ cell-like cells. BioRXiv, doi.org/10.1101/2024.02.15.580543.

17. Li, L., Ding, X., Sheft, A. and Schimenti, J. (2024) A high throughput CRISPR perturbation screen identifies epigenetic regulators impacting primordial germ cell development. BioRXiv, doi.org/10.1101/2024.02.26.582097.

18. Munisha, M., Huang, R., Schimenti, J. (2025) Chronic replication stress-mediated genomic instability disrupts placenta development in mice. bioRxiv. doi.org/10.1101/2025.02.28.640689

19. Phuong, D., Pirtz, M., Ralston, C., Cosgrove, B., Schimenti, J., Flesken-Nikitin, A. and Nikitin, A. (2025) Aggressive serous carcinomas of the female reproductive tract: cancer-prone cell states and genetic drivers. Cancers, 17:604.

20. Phuong, D, Ralston, C., Ezzat, T., Ashe, C., Armstrong, A., Flesken-Nikitin, A., Yamulla, R., Nikitin, A. and Schimenti, J. Combinatorial organoid mutagenesis screen reveals gene constellations driving malignant transformation, pathology and chemosensitivity in high grade serous ovarian carcinoma. bioRxiv doi.org/10.1101/2025.03.10.642422.

21. James R., Wang J., Bhatt S., Shadid S., Phuong D., and Schimenti J. Embryonic stem cell-specific responses to DNA replication stress. bioRxiv. doi.org/ 10.1101/2025.05.16.654332.

Browse PubMed for a complete listing of Dr. Schimenti's publications

• March of Dimes Basil O'Connor Starter Scholar Research Award
• Searle Scholars Award
• Presidential Young Investigator Award, National Science Foundation
• Fellow, American Association for the Advancement of Science
• James Law Professor of Genetics, Cornell College of Veterinary Medicine
• SUNY Chancellor's Award for Excellence in Scholarship and Creative Activities

(Primary) Department of Biomedical Sciences, College of Veterinary Medicine

(Joint) Department of Molecular Biology and Genetics