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MLL2 mutation spectrum in 45 patients with Kabuki syndrome.
Paulussen AD, Stegmann AP, Blok MJ, Tserpelis D, Posma-Velter C, Detisch Y, Smeets EE, Wagemans A, Schrander JJ, van den Boogaard MJ, van der Smagt J, van Haeringen A, Stolte-Dijkstra I, Kerstjens-Frederikse WS, Mancini GM, Wessels MW, Hennekam RC, Vreeburg M, Geraedts J, de Ravel T, Fryns JP, Smeets HJ, Devriendt K, Schrander-Stumpel CT. Paulussen AD, et al. Hum Mutat. 2011 Feb;32(2):E2018-25. doi: 10.1002/humu.21416. Epub 2010 Dec 7. Hum Mutat. 2011. PMID: 21280141
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. Among authors: paulussen ad. 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.
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. Hum Reprod. 2019 Aug 1;34(8):1608-1619. doi: 10.1093/humrep/dez106. Hum Reprod. 2019. PMID: 31348829
Pathogenic neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseq.
Koster R, Brandão RD, Tserpelis D, van Roozendaal CEP, van Oosterhoud CN, Claes KBM, Paulussen ADC, Sinnema M, Vreeburg M, van der Schoot V, Stumpel CTRM, Broen MPG, Spruijt L, Jongmans MCJ, Lesnik Oberstein SAJ, Plomp AS, Misra-Isrie M, Duijkers FA, Louwers MJ, Szklarczyk R, Derks KWJ, Brunner HG, van den Wijngaard A, van Geel M, Blok MJ. Koster R, et al. Among authors: paulussen adc. NPJ Genom Med. 2021 Nov 15;6(1):95. doi: 10.1038/s41525-021-00258-w. NPJ Genom Med. 2021. PMID: 34782607 Free PMC article.
Hereditary breast and ovarian cancer and reproduction: an observational study on the suitability of preimplantation genetic diagnosis for both asymptomatic carriers and breast cancer survivors.
Derks-Smeets IA, de Die-Smulders CE, Mackens S, van Golde R, Paulussen AD, Dreesen J, Tournaye H, Verdyck P, Tjan-Heijnen VC, Meijer-Hoogeveen M, De Greve J, Geraedts J, De Rycke M, Bonduelle M, Verpoest WM. Derks-Smeets IA, et al. Among authors: paulussen ad. Breast Cancer Res Treat. 2014 Jun;145(3):673-81. doi: 10.1007/s10549-014-2951-5. Epub 2014 Apr 19. Breast Cancer Res Treat. 2014. PMID: 24748567
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