Publications

1. Eozenou, C., Gonen, N., Touzon, M. S., Jorgensen, A., Yatsenko, S. A., Fusee, L., Rajkovic, A. . . Bashamboo, A. (2020). Testis formation in XX individuals resulting from novel pathogenic variants in Wilms’ tumor 1 (WT1) gene. Proceedings of the National Academy of Sciences, 117(24), 13680-13688. doi:10.1073/pnas.1921676117

2. Hilbold, E., Distl, O., Hoedemaker, M., Wilkening, S., Behr, R., Rajkovic, A., . . . Brehm, R. H. (2020). Loss of Cx43 in Murine Sertoli Cells Leads to Altered Prepubertal Sertoli Cell Maturation and Impairment of the Mitosis-Meiosis Switch. Cells, 9(3), 676. doi:10.3390/cells9030676

3. Yatsenko, S. A., & Rajkovic, A. (2019). Genetics of human female infertility†. Biology of Reproduction, 101(3), 549-566. doi:10.1093/biolre/ioz084

4. Yatsenko, S. A., Wood-Trageser, M., Chu, T., Jiang, H., & Rajkovic, A. (2019). A high-resolution X chromosome copy-number variation map in fertile females and women with primary ovarian insufficiency. Genetics in Medicine, 21(10), 2275-2284. doi:10.1038/s41436-019-0505-2

5. Gregg, A. R., & Rajkovic, A. (2019). Cell-Free DNA Screening During Pregnancy. Jama, 321(3), 308. doi:10.1001/jama.2018.18648

6. Yang, X., Touraine, P., Desai, S., Humphreys, G., Jiang, H., Yatsenko, A., & Rajkovic, A. (2018). Gene variants identified by whole-exome sequencing in 33 French women with premature ovarian insufficiency. Journal of Assisted Reproduction and Genetics, 36(1), 39-45. doi:10.1007/s10815-018-1349-4

7. Khan, M. J., Pollock, N., Jiang, H., Castro, C., Nazli, R., Ahmed, J., . . .Rajkovic, A., Yatsenko, A. N. (2018). X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family. Scientific Reports, 8(1). doi:10.1038/s41598-018-34262-5

8. Aarabi, M., Kessler, E., Madan-Khetarpal, S., Surti, U., Bellissimo, D., Rajkovic, A., & Yatsenko, S. A. (2019). Autism spectrum disorder in females with ARHGEF9 alterations and a random pattern of X chromosome inactivation. European Journal of Medical Genetics, 62(4), 239-242. doi:10.1016/j.ejmg.2018.07.021

9. Katari, S., Aarabi, M., Kintigh, A., Mann, S., Yatsenko, S. A., Sanfilippo, J. S., . . . Rajkovic, A. (2018). Chromosomal instability in women with primary ovarian insufficiency. Human Reproduction, 33(3), 531-538. doi:10.1093/humrep/dey012

10. Aarabi, M., Sniezek, O., Jiang, H., Saller, D. N., Bellissimo, D., Yatsenko, S. A., & Rajkovic, A. (2018). Importance of complete phenotyping in prenatal whole exome sequencing. Human Genetics, 137(2), 175-181. doi:10.1007/s00439-017-1860-1

 

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