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In vivo versus in silico assessment of potentially pathogenic missense variants in human reproductive genes.
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. Ding X, et al. Among authors: yatsenko an. Proc Natl Acad Sci U S A. 2023 Jul 25;120(30):e2219925120. doi: 10.1073/pnas.2219925120. Epub 2023 Jul 17. Proc Natl Acad Sci U S A. 2023. PMID: 37459509 Free PMC article.
X-linked TEX11 mutations, meiotic arrest, and azoospermia in infertile men.
Yatsenko AN, Georgiadis AP, Röpke A, Berman AJ, Jaffe T, Olszewska M, Westernströer B, Sanfilippo J, Kurpisz M, Rajkovic A, Yatsenko SA, Kliesch S, Schlatt S, Tüttelmann F. Yatsenko AN, et al. Among authors: yatsenko sa. N Engl J Med. 2015 May 28;372(22):2097-107. doi: 10.1056/NEJMoa1406192. Epub 2015 May 13. N Engl J Med. 2015. PMID: 25970010 Free PMC article.
Variants in GCNA, X-linked germ-cell genome integrity gene, identified in men with primary spermatogenic failure.
Hardy JJ, 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 J, Brieño-Enríquez 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; GEMINI Consortium. Hardy JJ, et al. Among authors: yatsenko an. Hum Genet. 2021 Aug;140(8):1169-1182. doi: 10.1007/s00439-021-02287-y. Epub 2021 May 7. Hum Genet. 2021. PMID: 33963445 Free PMC article.
Genomic testing for copy number and single nucleotide variants in spermatogenic failure.
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. Hardy J, et al. Among authors: yatsenko an. J Assist Reprod Genet. 2022 Sep;39(9):2103-2114. doi: 10.1007/s10815-022-02538-5. Epub 2022 Jul 18. J Assist Reprod Genet. 2022. PMID: 35849255 Free PMC article.
Genomic study of TEX15 variants: prevalence and allelic heterogeneity in men with spermatogenic failure.
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, Yatsenko AN. Qureshi S, et al. Among authors: yatsenko an. Front Genet. 2023 May 10;14:1134849. doi: 10.3389/fgene.2023.1134849. eCollection 2023. Front Genet. 2023. PMID: 37234866 Free PMC article.
38 results