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Whole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosis.
Herdewyn S, Zhao H, Moisse M, Race V, Matthijs G, Reumers J, Kusters B, Schelhaas HJ, van den Berg LH, Goris A, Robberecht W, Lambrechts D, Van Damme P. Herdewyn S, et al. Among authors: reumers j. Hum Mol Genet. 2012 Jun 1;21(11):2412-9. doi: 10.1093/hmg/dds055. Epub 2012 Feb 17. Hum Mol Genet. 2012. PMID: 22343411 Free PMC article.
Pipit: visualizing functional impacts of structural variations.
Sakai R, Moisse M, Reumers J, Aerts J. Sakai R, et al. Among authors: reumers j. Bioinformatics. 2013 Sep 1;29(17):2206-7. doi: 10.1093/bioinformatics/btt367. Epub 2013 Jun 25. Bioinformatics. 2013. PMID: 23803468 Free PMC article.
VEGF pathway genetic variants as biomarkers of treatment outcome with bevacizumab: an analysis of data from the AViTA and AVOREN randomised trials.
Lambrechts D, Claes B, Delmar P, Reumers J, Mazzone M, Yesilyurt BT, Devlieger R, Verslype C, Tejpar S, Wildiers H, de Haas S, Carmeliet P, Scherer SJ, Van Cutsem E. Lambrechts D, et al. Among authors: reumers j. Lancet Oncol. 2012 Jul;13(7):724-33. doi: 10.1016/S1470-2045(12)70231-0. Epub 2012 May 17. Lancet Oncol. 2012. PMID: 22608783
Gain of function of mutant p53 by coaggregation with multiple tumor suppressors.
Xu J, Reumers J, Couceiro JR, De Smet F, Gallardo R, Rudyak S, Cornelis A, Rozenski J, Zwolinska A, Marine JC, Lambrechts D, Suh YA, Rousseau F, Schymkowitz J. Xu J, et al. Among authors: reumers j. Nat Chem Biol. 2011 May;7(5):285-95. doi: 10.1038/nchembio.546. Epub 2011 Mar 27. Nat Chem Biol. 2011. PMID: 21445056
Huvariome: a web server resource of whole genome next-generation sequencing allelic frequencies to aid in pathological candidate gene selection.
Stubbs A, McClellan EA, Horsman S, Hiltemann SD, Palli I, Nouwens S, Koning AH, Hoogland F, Reumers J, Heijsman D, Swagemakers S, Kremer A, Meijerink J, Lambrechts D, van der Spek PJ. Stubbs A, et al. Among authors: reumers j. J Clin Bioinforma. 2012 Nov 19;2(1):19. doi: 10.1186/2043-9113-2-19. J Clin Bioinforma. 2012. PMID: 23164068 Free PMC article.
Halvade: scalable sequence analysis with MapReduce.
Decap D, Reumers J, Herzeel C, Costanza P, Fostier J. Decap D, et al. Among authors: reumers j. Bioinformatics. 2015 Aug 1;31(15):2482-8. doi: 10.1093/bioinformatics/btv179. Epub 2015 Mar 26. Bioinformatics. 2015. PMID: 25819078 Free PMC article.
45 results