Selected Publications

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.

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

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

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.

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. 

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.

McNairn, A., Chuang, C., Wallace, M. and Schimenti, J. (2019) Female-biased embryonic death from DNA replication stress-induced inflammation. Nature, 567: 105-108.

Schimenti, J. and Handel, M.A. (2018) Unpackaging the genetics of mammalian fertility: Strategies to identify the "reproductive genome." Biol. Reprod. 99:1119-1128.

Rinaldi, V., Hsieh, K., Munroe, R., Bolcun-Filas, E. and Schimenti, J.  Pharmacological inhibition of the DNA damage checkpoint prevents radiation-induced oocyte death. (2017) Genetics 206: 1823-28. 10.1534/genetics.117.203455. PMID: 28576861

Rinaldi, V., Bolcun-Filas, E., Kogo, H., Kurahashi, H. and Schimenti, J. (2017) The DNA damage checkpoint eliminates mouse oocytes with chromosome synapsis failure.  Molecular Cell 67:1026-1036. PMID: 28844861.

McNairn, A., Rinaldi, V. and Schimenti, J. (2017) Repair of meiotic DNA breaks and homolog pairing in mouse meiosis requires a minichromosome maintenance (MCM) paralog. Genetics 205:529-537.

Kartha, N., Maskin, C., Shen, L. and Schimenti, J. (2016) Arid1a is suppressor of spontaneous mammary tumors in mice. Genetics 203: 1601-11.

Bai, G., Smolka, M. and Schimenti, J. (2016) Chronic DNA replication stress induces senescence by TRP53-dependent downregulation of the Minichromosome Maintenance 2-7 factors.  PLoS Genetics 12:e1005787.

Bolcun-Filas, E., White, M., Rinaldi, V. and Schimenti, J. Reversal of female infertility by Chk2 ablation reveals the oocyte DNA damage checkpoint. (2014) Science, 343:533-536. Get Reprint

Handel, MA, Eppig, J. and Schimenti, J.  Applying gold standards to in vitro-derived germ cells. (2014) Cell, 157:1257-61.

Singh, P., Schimenti, J*. and Bolcun-Filas, E.  A mouse geneticist’s practical guide to CRISPR applications.  (2015) Genetics . 199:1-15.  * corresponding author. PMC4286675

Pattabiraman, S., Baumann, C., Guisado, D., Eppig, J., Schimenti, J*. and De La Fuente, R. BRWD1 is critical for postmeiotic transcription in mouse spermatids and chromosome stability during female meiosis. (2015) J. Cell. Biol. 208:53-69. * co-corresponding author.

Singh, P. and Schimenti, J.  (2015) The genetics of human infertility by functional interrogation of SNPs. PNAS, 112: 10431-36. PMC4547237.

Luo, Y. and Schimenti, J. (2015) MCM9 deficiency delays primordial germ cell proliferation independent of the ATM pathway.  genesis, DOI: 10.1002/dvg.22901.

Luo, Y., Hartford, S., Zheng, R., Southard, T., Shima, N., and Schimenti, J. Hypersensitivity of primordial germ cells to compromised replication-associated DNA repair involves ATM-p53-p21 signaling.  (2014) PLoS Genetics, 10:e1004471.

Harris, T., Schimenti, K., Munroe, R. and Schimenti, J. IQ motif-containing G (Iqcg) is required for mouse spermiogenesis. (2014) G3: Genes, Genome, Genetics 4:367-372. doi:10.1534/g3.113.009563. PMID: 24362311.

Wallace, M., Pfefferle, A., Shen, L., McNairn, A., Cerami, E., Fallon, B., Rinaldi, V., Southard, T., Perou, C., and Schimenti, J. (2012) Comparative oncogenomics implicates the neurofibromin 1 gene (NF1) as a breast cancer driver. Genetics 192:385-396. PMID: 22851646.

Chuang, C., Yang, D. Bai, G., Freeland, A., Pruitt, S. and Schimenti, J. (2012) Post-transcriptional homeostasis and regulation of MCM2-7 in mammalian cells. Nucleic Acids Res. 40:4914-4924. PMC3367205.

Su, Y-Q, Sugiura, K., Sun, F., Pendola, J., Cox, G., Handel, MA., Schimenti, J. and Eppig, J.  (2012) MARF1 regulates essential oogenic processes in mice.  Science, 335:1496-9. 

Bolcun-Filas, E., Bannister, L., Barash, A., Schimenti, K., Hartford, S., Eppig, J., Handel, MA, Shen, L.  and Schimenti, J.  (2011) A-MYB is a master regulator of meiosis in male mice.  Development 138:3319-3330.  PMC3133921

Li, X., Bolcun-Filas, E., and Schimenti, J. (2011) Genetic evidence that synaptonemal complex axial elements govern recombination pathway choice in mice.  Genetics, 189:71-82. PMC3176111

Hartford, S. Luo, Y., Southard, T., Min, I., Lis, J. and Schimenti, J. (2011) Minichromosome maintenance helicase paralog MCM9 is dispensible for DNA replication but functions in germline stem cells and tumor suppression.  PNAS 108:17702-7. PMCID:PMC3203795

Mu, W., Munroe, R., Barker, A. and Schimenti, J. (2010) PDCD2 is essential for preimplantation mouse development and embryonic stem cell maintenance. Devel. Biol. 347:279-288. 

Chuang, C., Wallace, M., Abratte, C., Southard, T. and Schimenti, J.  (2010) Incremental genetic perturbations to MCM2-7 expression and subcellular distribution reveal exquisite sensitivity of mice to DNA replication stress.  PLoS Genetics, 6(9):e1001110.

Philipps, D., Wigglesworth, K., Hartford, S., Sun, F., Pattabiraman, S., Schimenti, K., Handel, M.A.,  Eppig, J.J. and Schimenti, J. (2008) The dual bromodomain and WD repeat-containing mouse protein BRWD1 is required for normal spermiogenesis and the oocyte-embryo transition. Devel Biol 317:72-82.  PMC2475337.

Ward, J., Reinholdt, L., Motley, W., Niswander, L., Deacon, D.,  Griffin, L., Langlais, K., Backus, V., Schimenti, K., O’Brien, M., Eppig, J. and Schimenti, J.  (2007) Mutation in mouse Hei10, an E3 ubiquitin ligase, disrupts meiotic crossing-over.  PLoS Genetics 3: e139. 

Li, X. and Schimenti, J.  Mouse Pachytene Checkpoint 2 (Trip13) is required for completing meiotic recombination but not synapsis. (2007) PLoS Genetics 3:e130.  PMC1941754.

Shima, N., Alcaraz, A., Liachko, I., Buske, T., Andrews, C., Munroe, R., Hartford, S., Tye, B., and Schimenti, J. (2007) A viable mutation of Mcm4 causes genomic instability and mammary adenocarcinoma in mice.  Nature Genetics 19: 93-98.

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