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Page 1
Identification of human D lactate dehydrogenase deficiency.
Monroe GR, van Eerde AM, Tessadori F, Duran KJ, Savelberg SMC, van Alfen JC, Terhal PA, van der Crabben SN, Lichtenbelt KD, Fuchs SA, Gerrits J, van Roosmalen MJ, van Gassen KL, van Aalderen M, Koot BG, Oostendorp M, Duran M, Visser G, de Koning TJ, Calì F, Bosco P, Geleijns K, de Sain-van der Velden MGM, Knoers NV, Bakkers J, Verhoeven-Duif NM, van Haaften G, Jans JJ. Monroe GR, et al. Among authors: van der crabben sn, van aalderen m, van haaften g, van alfen jc, van roosmalen mj, van eerde am, van gassen kl. Nat Commun. 2019 Apr 1;10(1):1477. doi: 10.1038/s41467-019-09458-6. Nat Commun. 2019. PMID: 30931947 Free PMC article.
A multi-platform reference for somatic structural variation detection.
Espejo Valle-Inclan J, Besselink NJM, de Bruijn E, Cameron DL, Ebler J, Kutzera J, van Lieshout S, Marschall T, Nelen M, Priestley P, Renkens I, Roemer MGM, van Roosmalen MJ, Wenger AM, Ylstra B, Fijneman RJA, Kloosterman WP, Cuppen E. Espejo Valle-Inclan J, et al. Among authors: van roosmalen mj. Cell Genom. 2022 Jun 8;2(6):100139. doi: 10.1016/j.xgen.2022.100139. eCollection 2022 Jun 8. Cell Genom. 2022. PMID: 36778136 Free PMC article.
Genomic and functional overlap between somatic and germline chromosomal rearrangements.
van Heesch S, Simonis M, van Roosmalen MJ, Pillalamarri V, Brand H, Kuijk EW, de Luca KL, Lansu N, Braat AK, Menelaou A, Hao W, Korving J, Snijder S, van der Veken LT, Hochstenbach R, Knegt AC, Duran K, Renkens I, Alekozai N, Jager M, Vergult S, Menten B, de Bruijn E, Boymans S, Ippel E, van Binsbergen E, Talkowski ME, Lichtenbelt K, Cuppen E, Kloosterman WP. van Heesch S, et al. Among authors: van der veken lt, van roosmalen mj, van binsbergen e. Cell Rep. 2014 Dec 24;9(6):2001-10. doi: 10.1016/j.celrep.2014.11.022. Epub 2014 Dec 11. Cell Rep. 2014. PMID: 25497101 Free article.
Chromothripsis in healthy individuals affects multiple protein-coding genes and can result in severe congenital abnormalities in offspring.
de Pagter MS, van Roosmalen MJ, Baas AF, Renkens I, Duran KJ, van Binsbergen E, Tavakoli-Yaraki M, Hochstenbach R, van der Veken LT, Cuppen E, Kloosterman WP. de Pagter MS, et al. Among authors: van der veken lt, van roosmalen mj, van binsbergen e. Am J Hum Genet. 2015 Apr 2;96(4):651-6. doi: 10.1016/j.ajhg.2015.02.005. Epub 2015 Mar 19. Am J Hum Genet. 2015. PMID: 25799107 Free PMC article.
Partner independent fusion gene detection by multiplexed CRISPR-Cas9 enrichment and long read nanopore sequencing.
Stangl C, de Blank S, Renkens I, Westera L, Verbeek T, Valle-Inclan JE, González RC, Henssen AG, van Roosmalen MJ, Stam RW, Voest EE, Kloosterman WP, van Haaften G, Monroe GR. Stangl C, et al. Among authors: van haaften g, van roosmalen mj. Nat Commun. 2020 Jun 5;11(1):2861. doi: 10.1038/s41467-020-16641-7. Nat Commun. 2020. PMID: 32504042 Free PMC article.
Constitutional chromothripsis rearrangements involve clustered double-stranded DNA breaks and nonhomologous repair mechanisms.
Kloosterman WP, Tavakoli-Yaraki M, van Roosmalen MJ, van Binsbergen E, Renkens I, Duran K, Ballarati L, Vergult S, Giardino D, Hansson K, Ruivenkamp CA, Jager M, van Haeringen A, Ippel EF, Haaf T, Passarge E, Hochstenbach R, Menten B, Larizza L, Guryev V, Poot M, Cuppen E. Kloosterman WP, et al. Among authors: van haeringen a, van roosmalen mj, van binsbergen e. Cell Rep. 2012 Jun 28;1(6):648-55. doi: 10.1016/j.celrep.2012.05.009. Epub 2012 Jun 15. Cell Rep. 2012. PMID: 22813740 Free article.
Genomic and transcriptomic plasticity in treatment-naive ovarian cancer.
Hoogstraat M, de Pagter MS, Cirkel GA, van Roosmalen MJ, Harkins TT, Duran K, Kreeftmeijer J, Renkens I, Witteveen PO, Lee CC, Nijman IJ, Guy T, van 't Slot R, Jonges TN, Lolkema MP, Koudijs MJ, Zweemer RP, Voest EE, Cuppen E, Kloosterman WP. Hoogstraat M, et al. Among authors: van t slot r, van roosmalen mj. Genome Res. 2014 Feb;24(2):200-11. doi: 10.1101/gr.161026.113. Epub 2013 Nov 12. Genome Res. 2014. PMID: 24221193 Free PMC article.
Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease.
van der Crabben SN, Hennus MP, McGregor GA, Ritter DI, Nagamani SC, Wells OS, Harakalova M, Chinn IK, Alt A, Vondrova L, Hochstenbach R, van Montfrans JM, Terheggen-Lagro SW, van Lieshout S, van Roosmalen MJ, Renkens I, Duran K, Nijman IJ, Kloosterman WP, Hennekam E, Orange JS, van Hasselt PM, Wheeler DA, Palecek JJ, Lehmann AR, Oliver AW, Pearl LH, Plon SE, Murray JM, van Haaften G. van der Crabben SN, et al. Among authors: van hasselt pm, van lieshout s, van haaften g, van roosmalen mj, van montfrans jm. J Clin Invest. 2016 Aug 1;126(8):2881-92. doi: 10.1172/JCI82890. Epub 2016 Jul 18. J Clin Invest. 2016. PMID: 27427983 Free PMC article.
Mapping and phasing of structural variation in patient genomes using nanopore sequencing.
Cretu Stancu M, van Roosmalen MJ, Renkens I, Nieboer MM, Middelkamp S, de Ligt J, Pregno G, Giachino D, Mandrile G, Espejo Valle-Inclan J, Korzelius J, de Bruijn E, Cuppen E, Talkowski ME, Marschall T, de Ridder J, Kloosterman WP. Cretu Stancu M, et al. Among authors: van roosmalen mj. Nat Commun. 2017 Nov 6;8(1):1326. doi: 10.1038/s41467-017-01343-4. Nat Commun. 2017. PMID: 29109544 Free PMC article.
Mitochondrial H2O2 release does not directly cause damage to chromosomal DNA.
van Soest DMK, Polderman PE, den Toom WTF, Keijer JP, van Roosmalen MJ, Leyten TMF, Lehmann J, Zwakenberg S, De Henau S, van Boxtel R, Burgering BMT, Dansen TB. van Soest DMK, et al. Among authors: van roosmalen mj. Nat Commun. 2024 Mar 28;15(1):2725. doi: 10.1038/s41467-024-47008-x. Nat Commun. 2024. PMID: 38548751 Free PMC article.
37 results