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Page 1
PGD for hereditary breast and ovarian cancer: the route to universal tests for BRCA1 and BRCA2 mutation carriers.
Drüsedau M, Dreesen JC, Derks-Smeets I, Coonen E, van Golde R, van Echten-Arends J, Kastrop PM, Blok MJ, Gómez-García E, Geraedts JP, Smeets HJ, de Die-Smulders CE, Paulussen AD. Drüsedau M, et al. Eur J Hum Genet. 2013 Dec;21(12):1361-8. doi: 10.1038/ejhg.2013.50. Epub 2013 Mar 27. Eur J Hum Genet. 2013. PMID: 23531862 Free PMC article.
Mutation-specific effects in germline transmission of pathogenic mtDNA variants.
Otten ABC, Sallevelt SCEH, Carling PJ, Dreesen JCFM, Drüsedau M, Spierts S, Paulussen ADC, de Die-Smulders CEM, Herbert M, Chinnery PF, Samuels DC, Lindsey P, Smeets HJM. Otten ABC, et al. Among authors: drusedau m. Hum Reprod. 2018 Jul 1;33(7):1331-1341. doi: 10.1093/humrep/dey114. Hum Reprod. 2018. PMID: 29850888 Free PMC article.
Multi-centre evaluation of a comprehensive preimplantation genetic test through haplotyping-by-sequencing.
Masset H, Zamani Esteki M, Dimitriadou E, Dreesen J, Debrock S, Derhaag J, Derks K, Destouni A, Drüsedau M, Meekels J, Melotte C, Peeraer K, Tšuiko O, van Uum C, Allemeersch J, Devogelaere B, François KO, Happe S, Lorson D, Richards RL, Theuns J, Brunner H, de Die-Smulders C, Voet T, Paulussen A, Coonen E, Vermeesch JR. Masset H, et al. Among authors: drusedau m. Hum Reprod. 2019 Aug 1;34(8):1608-1619. doi: 10.1093/humrep/dez106. Hum Reprod. 2019. PMID: 31348829
Embryo tracking system for high-throughput sequencing-based preimplantation genetic testing.
van Dijk W, Derks K, Drüsedau M, Meekels J, Koeck R, Essers R, Dreesen J, Coonen E, de Die-Smulders C, Stevens SJC, Brunner HG, van den Wijngaard A, Paulussen ADC, Zamani Esteki M. van Dijk W, et al. Among authors: drusedau m. Hum Reprod. 2022 Oct 31;37(11):2700-2708. doi: 10.1093/humrep/deac208. Hum Reprod. 2022. PMID: 36149256 Free PMC article.
Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing.
Janssen AEJ, Koeck RM, Essers R, Cao P, van Dijk W, Drüsedau M, Meekels J, Yaldiz B, van de Vorst M, de Koning B, Hellebrekers DMEI, Stevens SJC, Sun SM, Heijligers M, de Munnik SA, van Uum CMJ, Achten J, Hamers L, Naghdi M, Vissers LELM, van Golde RJT, de Wert G, Dreesen JCFM, de Die-Smulders C, Coonen E, Brunner HG, van den Wijngaard A, Paulussen ADC, Zamani Esteki M. Janssen AEJ, et al. Among authors: drusedau m. Nat Commun. 2024 Sep 2;15(1):7164. doi: 10.1038/s41467-024-51508-1. Nat Commun. 2024. PMID: 39223156 Free PMC article.
15 results