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C9orf72 repeat expansion creates the unstable folate-sensitive fragile site FRA9A.
Mirceta M, Schmidt MHM, Shum N, Prasolava TK, Meikle B, Lanni S, Mohiuddin M, McKeever PM, Zhang M, Liang M, van der Werf I, Scheers S, Dion PA, Wang P, Wilson MD, Abell T, Philips EA, Sznajder ŁJ, Swanson MS, Mehkary M, Khan M, Yokoi K, Jung C, de Jong PJ, Freudenreich CH, McGoldrick P, Yuen RKC, Abrahão A, Keith J, Zinman L, Robertson J, Rogaeva E, Rouleau GA, Kooy RF, Pearson CE. Mirceta M, et al. Among authors: scheers s. NAR Mol Med. 2024 Nov 12;1(4):ugae019. doi: 10.1093/narmme/ugae019. eCollection 2024 Oct. NAR Mol Med. 2024. PMID: 39669124 Free PMC article.
Five patients with a chromosome 1q21.1 triplication show macrocephaly, increased weight and facial similarities.
Van Dijck A, van der Werf IM, Reyniers E, Scheers S, Azage M, Siefkas K, Van der Aa N, Lacroix A, Rosenfeld J, Argiropoulos B, Davis K, Innes AM, Mefford HC, Mortier G, Meuwissen M, Kooy RF. Van Dijck A, et al. Among authors: scheers s. Eur J Med Genet. 2015 Oct;58(10):503-8. doi: 10.1016/j.ejmg.2015.08.004. Epub 2015 Aug 29. Eur J Med Genet. 2015. PMID: 26327614
Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patients.
Suls A, Claeys KG, Goossens D, Harding B, Van Luijk R, Scheers S, Deprez L, Audenaert D, Van Dyck T, Beeckmans S, Smouts I, Ceulemans B, Lagae L, Buyse G, Barisic N, Misson JP, Wauters J, Del-Favero J, De Jonghe P, Claes LR. Suls A, et al. Among authors: scheers s. Hum Mutat. 2006 Sep;27(9):914-20. doi: 10.1002/humu.20350. Hum Mutat. 2006. PMID: 16865694
C9orf72 expansion creates the unstable folate-sensitive fragile site FRA9A.
Mirceta M, Schmidt MHM, Shum N, Prasolava TK, Meikle B, Lanni S, Mohiuddin M, Mckeever PM, Zhang M, Liang M, van der Werf I, Scheers S, Dion PA, Wang P, Wilson MD, Abell T, Philips EA, Sznajder ŁJ, Swanson MS, Mehkary M, Khan M, Yokoi K, Jung C, de Jong PJ, Freudenreich CH, McGoldrick P, Yuen RKC, Abrahão A, Keith J, Zinman L, Robertson J, Rogaeva E, Rouleau GA, Kooy RF, Pearson CE. Mirceta M, et al. Among authors: scheers s. bioRxiv [Preprint]. 2024 Oct 29:2024.10.26.620312. doi: 10.1101/2024.10.26.620312. bioRxiv. 2024. Update in: NAR Mol Med. 2024 Nov 12;1(4):ugae019. doi: 10.1093/narmme/ugae019 PMID: 39569145 Free PMC article. Updated. Preprint.
The molecular basis of the folate-sensitive fragile site FRA11A at 11q13.
Debacker K, Winnepenninckx B, Longman C, Colgan J, Tolmie J, Murray R, van Luijk R, Scheers S, Fitzpatrick D, Kooy F. Debacker K, et al. Among authors: scheers s. Cytogenet Genome Res. 2007;119(1-2):9-14. doi: 10.1159/000109612. Epub 2007 Dec 14. Cytogenet Genome Res. 2007. PMID: 18160775
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