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Page 1
Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies.
Bogliolo M, Pujol R, Aza-Carmona M, Muñoz-Subirana N, Rodriguez-Santiago B, Casado JA, Rio P, Bauser C, Reina-Castillón J, Lopez-Sanchez M, Gonzalez-Quereda L, Gallano P, Catalá A, Ruiz-Llobet A, Badell I, Diaz-Heredia C, Hladun R, Senent L, Argiles B, Bergua Burgues JM, Bañez F, Arrizabalaga B, López Almaraz R, Lopez M, Figuera Á, Molinés A, Pérez de Soto I, Hernando I, Muñoz JA, Del Rosario Marin M, Balmaña J, Stjepanovic N, Carrasco E, Cuesta I, Cosuelo JM, Regueiro A, Moraleda Jimenez J, Galera-Miñarro AM, Rosiñol L, Carrió A, Beléndez-Bieler C, Escudero Soto A, Cela E, de la Mata G, Fernández-Delgado R, Garcia-Pardos MC, Sáez-Villaverde R, Barragaño M, Portugal R, Lendinez F, Hernadez I, Vagace JM, Tapia M, Nieto J, Garcia M, Gonzalez M, Vicho C, Galvez E, Valiente A, Antelo ML, Ancliff P, Garcia F, Dopazo J, Sevilla J, Paprotka T, Pérez-Jurado LA, Bueren J, Surralles J. Bogliolo M, et al. Among authors: paprotka t. J Med Genet. 2020 Apr;57(4):258-268. doi: 10.1136/jmedgenet-2019-106249. Epub 2019 Oct 5. J Med Genet. 2020. PMID: 31586946
Lentiviral gene therapy for X-linked chronic granulomatous disease.
Kohn DB, Booth C, Kang EM, Pai SY, Shaw KL, Santilli G, Armant M, Buckland KF, Choi U, De Ravin SS, Dorsey MJ, Kuo CY, Leon-Rico D, Rivat C, Izotova N, Gilmour K, Snell K, Dip JX, Darwish J, Morris EC, Terrazas D, Wang LD, Bauser CA, Paprotka T, Kuhns DB, Gregg J, Raymond HE, Everett JK, Honnet G, Biasco L, Newburger PE, Bushman FD, Grez M, Gaspar HB, Williams DA, Malech HL, Galy A, Thrasher AJ; Net4CGD consortium. Kohn DB, et al. Among authors: paprotka t. Nat Med. 2020 Feb;26(2):200-206. doi: 10.1038/s41591-019-0735-5. Epub 2020 Jan 27. Nat Med. 2020. PMID: 31988463 Free PMC article. Clinical Trial.
Library preparation for next generation sequencing: A review of automation strategies.
Hess JF, Kohl TA, Kotrová M, Rönsch K, Paprotka T, Mohr V, Hutzenlaub T, Brüggemann M, Zengerle R, Niemann S, Paust N. Hess JF, et al. Among authors: paprotka t. Biotechnol Adv. 2020 Jul-Aug;41:107537. doi: 10.1016/j.biotechadv.2020.107537. Epub 2020 Mar 19. Biotechnol Adv. 2020. PMID: 32199980 Free article. Review.
Ex vivo modelling of drug efficacy in a rare metastatic urachal carcinoma.
Mäkelä R, Arjonen A, Härmä V, Rintanen N, Paasonen L, Paprotka T, Rönsch K, Kuopio T, Kononen J, Rantala JK. Mäkelä R, et al. Among authors: paprotka t. BMC Cancer. 2020 Jun 23;20(1):590. doi: 10.1186/s12885-020-07092-w. BMC Cancer. 2020. PMID: 32576176 Free PMC article.
The potential of circulating tumor DNA methylation analysis for the early detection and management of ovarian cancer.
Widschwendter M, Zikan M, Wahl B, Lempiäinen H, Paprotka T, Evans I, Jones A, Ghazali S, Reisel D, Eichner J, Rujan T, Yang Z, Teschendorff AE, Ryan A, Cibula D, Menon U, Wittenberger T. Widschwendter M, et al. Among authors: paprotka t. Genome Med. 2017 Dec 22;9(1):116. doi: 10.1186/s13073-017-0500-7. Genome Med. 2017. PMID: 29268796 Free PMC article.
DNA methylation markers for early detection of women's cancer: promise and challenges.
Wittenberger T, Sleigh S, Reisel D, Zikan M, Wahl B, Alunni-Fabbroni M, Jones A, Evans I, Koch J, Paprotka T, Lempiäinen H, Rujan T, Rack B, Cibula D, Widschwendter M. Wittenberger T, et al. Among authors: paprotka t. Epigenomics. 2014 Jun;6(3):311-27. doi: 10.2217/epi.14.20. Epigenomics. 2014. PMID: 25111485 Review.
Methylation patterns in serum DNA for early identification of disseminated breast cancer.
Widschwendter M, Evans I, Jones A, Ghazali S, Reisel D, Ryan A, Gentry-Maharaj A, Zikan M, Cibula D, Eichner J, Alunni-Fabbroni M, Koch J, Janni WJ, Paprotka T, Wittenberger T, Menon U, Wahl B, Rack B, Lempiäinen H. Widschwendter M, et al. Among authors: paprotka t. Genome Med. 2017 Dec 22;9(1):115. doi: 10.1186/s13073-017-0499-9. Genome Med. 2017. PMID: 29268762 Free PMC article. Clinical Trial.
DNA methylation signatures to predict the cervicovaginal microbiome status.
Nené NR, Barrett J, Jones A, Evans I, Reisel D, Timms JF, Paprotka T, Leimbach A, Franchi D, Colombo N, Bjørge L, Zikan M, Cibula D, Widschwendter M. Nené NR, et al. Among authors: paprotka t. Clin Epigenetics. 2020 Nov 23;12(1):180. doi: 10.1186/s13148-020-00966-7. Clin Epigenetics. 2020. PMID: 33228781 Free PMC article.
27 results