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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: matthijs g. 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.
Microsatellite instable vs stable colon carcinomas: analysis of tumour heterogeneity, inflammation and angiogenesis.
De Smedt L, Lemahieu J, Palmans S, Govaere O, Tousseyn T, Van Cutsem E, Prenen H, Tejpar S, Spaepen M, Matthijs G, Decaestecker C, Moles Lopez X, Demetter P, Salmon I, Sagaert X. De Smedt L, et al. Among authors: matthijs g. Br J Cancer. 2015 Jul 28;113(3):500-9. doi: 10.1038/bjc.2015.213. Epub 2015 Jun 11. Br J Cancer. 2015. PMID: 26068398 Free PMC article.
Clinical utility gene card for: Phosphomannomutase 2 deficiency.
Jaeken J, Lefeber D, Matthijs G. Jaeken J, et al. Among authors: matthijs g. Eur J Hum Genet. 2014 Aug;22(8). doi: 10.1038/ejhg.2013.298. Epub 2014 Jan 15. Eur J Hum Genet. 2014. PMID: 24424124 Free PMC article. No abstract available.
346 results