Magee-Womens Research Institute & Foundation

The Yatsenko Research Group utilizes molecular DNA, RNA and novel genomic approaches to decipher genetic and genomic defects underlying severe forms of male infertility. Our goal is to improve genetic diagnosis for infertile men via application of new genomic procedures and scientific findings into clinical practice. Currently, the diagnosis for male infertility is limited to testing of a small proportion of patients for chromosome aberrations. Current therapies available for this condition are IVF and ICSI procedures, while there is no single feature that has been shown to accurately predict the success rate for these procedures or the future health of children born via these technologies.

Using genomic and transcriptomic approaches the group examines hundreds of patients of hundreds of genes responsible for severe forms of male infertility, identifying various genetic defects that would cause male infertility. All genetic and genomic studies are subject to careful examination via replication studies in extensive cohorts of patients with male infertility from 2 international research consortiums, GEMINI and IMIGC. Multiple approaches such as statistical, computational, and functional in vitro and vivo are utilized. Priorities are given to novel or known molecular mechanisms causing male infertility that can be intervened by medication. 

• Jewel L. Wasson, Trinity N. Sprague, Darcy L. Thull, Maureen May, Kathleen E. Vitale, Shenin A. Sanoba, Yatsenko AN, Daniel Bellissimo, Phuong L. Mai. Detection rates of multigene panel and exome testing in patients with previous negative BRCA1/2 results. Familial Cancer. 2025. In Press
• Qureshi S, Hardy JJ, Pombar C, Berman AJ, Malcher A, Gingrich T, Hvasta R, Kuong J, Munyoki S, Hwang K, Orwig KE, Ahmed J, Olszewska M, Kurpisz M, Conrad DF, Jaseem Khan M and Yatsenko AN. Genomic study of TEX15 variants: prevalence and allelic heterogeneity in men with spermatogenic failure. Front. Genet., 2023 DOI: 10.3389/fgene.2023.1134849. PMID: 37234866
• Ding X, Singh P, Schimenti K, Tran TN, Fragoza R, Hardy J, Orwig KE, Olszewska M, Kurpisz MK, Yatsenko AN, Conrad DF, Yu H, Schimenti JC. In vivo versus in silico assessment of potentially pathogenic missense variants in human reproductive genes. Proc Natl Acad Sci USA. 2023 Jul25;120(30): e2219925120. doi:10.1073/pnas. 2219925120. PMID: 37459509.
• Hardy J, Pollock N, Gingrich T, Sweet P, Ramesh A, Kuong J, Basar A, Jiang H, Hwang K, Vukina J, Jaffe T, Olszewska M, Kurpisz M, Yatsenko AN. Genomic testing for copy number and single nucleotide variants in spermatogenic failure. J Assist Reprod Genet. 2022 Sep;39(9):2103-2114. doi: 10.1007/s10815-022-02538-5. Epub 2022 Jul 18.PMID: 35849255
• Malcher A, Stokowy T, Berman A, Olszewska M, Jedrzejczak P, Sielski D, Nowakowski A, Rozwadowska N, Yatsenko AN, Kurpisz MK. Whole-genome sequencing identifies new candidate genes for nonobstructive azoospermia. Andrology. 2022 Aug 25. doi: 10.1111/andr.13269. Epub. PMID: 36017582
• Wyrwoll MJ, Wabschke R, Röpke A, Wöste M, Perrey S, Rotte N, Hardy J, Astica L, Lupiáñez DG, Wistuba J, Westernströer B, Schlatt S, Berman A J, Müller AM, Kliesch S, Yatsenko AN, Friedrich C, Tüttelmann F. Analysis of copy number variation in men with non-obstructive azoospermia. Andrology. 2022 Aug 30. doi: 10.1111/andr.13267. Epub. PMID: 36041235
• Hardy J, Wyrwoll MJ, Mcfadden W, Malcher A, Rotte N, Pollock NC, Munyoki S, Veroli MV, Houston BJ, Xavier MJ, Kasak L, Punab M, Laan M, Kliesch S, Schlegel P, Jaffe T, Hwang K, Vukina, GEMINI Consortium, Brieño-Enriquez MA, Orwig K, Yanowitz J, Buszczak M, Veltman JA, Oud M, Nagirnaja L, Olszewska M, O'Bryan MK, Conrad DF, Kurpisz M, Tüttelmann F, Yatsenko AN. Variants in GCNA, an X-linked germ-cell genome integrity gene, identified in men with primary spermatogenic failure. 2021. Human Genetics. 140(8):1169-1182. doi: 10.1007/s00439-021-02287. PMID: 33963445  
• Kim O, Park EY, Klinkebiel D, Park SD, Shin Y-H, Abdullaev Z, Emerson RE, Coffey DM, Creighton CJ, Kwon S, Chang EC, Chiang T, Yatsenko AN, Karpf AR, Kim J. In vivo modeling of metastatic human high-grade serous ovarian cancer in mice. 2020. PLoS Genetics. PMID: 32497036 DOI: 10.1371/journal.pgen.1008808
• Bhargava V, Goldstein CD, Russell L, Xu L, Ahmed M, Li W, Casey A, Servage K, Kollipara R, Picciarelli Z, Kittler R, Yatsenko AN, Carmell M, Orth K, Amatruda JF, Yanowitz JL, Buszczak M. GCNA preserves genome integrity and fertility across species. Dev.Cell. 2020. 38-52. doi: 10.1016/j.devcel.2019.11.007. PMID:31839537
• Yatsenko AN, Georgiadis AP, Röpke A, Berman AJ, Jaffe TM, Olszewska M, Westernströer B, Sanfilippo JS, Kurpisz M, Rajkovic A, Yatsenko SA, Kliesch S, Schlatt S, Tuttelman F. X-linked TEX11mutations, meiotic arrest and azoospermia in infertile men. N Engl J Med. 2015;372(22):2097-107.
• Georgiadis AP, Kishore A, Zorrilla M, Jaffe TM, Sanfilippo JS, Volk E, Rajkovic A, Yatsenko AN. High quality RNA in semen and sperm: Isolation, analysis and potential application in clinical testing. J Urol. 2015;193(1):352-9.
• Yatsenko AN, Georgiadis A, Murthy LJ, Lamb DJ, Matzuk MM. UBE2B mRNA alterations are associated with severe oligozoospermia in infertile men. Mol Hum Reprod. 2013;19(6):388-94.
• Yatsenko AN, O’Neil DS, Roy A, Arias-Mendoza PA, Chen R, Murthy LJ, Lamb DJ, Matzuk MM. Association of mutations in the zona pellucida binding protein 1 (ZPBP1) gene with abnormal sperm head morphology in infertile men. Mol Hum Reprod. 2012;18(1):14-21.
• Yatsenko AN, Yatsenko SA, Weedin JW, Lawrence AE, Patel A, Peacock S. Matzuk MM, Lamb DJ, Cheung SW, Lipshultz LI. Comprehensive 5-year study of cytogenetic aberrations in 668 infertile men. J Urol. 2010;183(4):1636-42.
• Yatsenko AN, Roy A, Chen R, Ma L, Murthy LJ, Yan W, Lamb DJ, Matzuk MM. Non-invasive genetic diagnosis of male infertility using spermatozoal RNA: KLHL10 mutations in oligozoospermic patients impair homodimerization. Hum Mol Genet. 2006;15(23):3411-9. 

For additional publications, visit Pubmed.