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22q11.2 Low Copy Repeats Expanded in the Human Lineage.
Vervoort L, Dierckxsens N, Pereboom Z, Capozzi O, Rocchi M, Shaikh TH, Vermeesch JR. Vervoort L, et al. Front Genet. 2021 Jul 15;12:706641. doi: 10.3389/fgene.2021.706641. eCollection 2021. Front Genet. 2021. PMID: 34335701 Free PMC article.
The 22q11 low copy repeats are characterized by unprecedented size and structural variability.
Demaerel W, Mostovoy Y, Yilmaz F, Vervoort L, Pastor S, Hestand MS, Swillen A, Vergaelen E, Geiger EA, Coughlin CR, Chow SK, McDonald-McGinn D, Morrow B, Kwok PY, Xiao M, Emanuel BS, Shaikh TH, Vermeesch JR. Demaerel W, et al. Among authors: vervoort l. Genome Res. 2019 Sep;29(9):1389-1401. doi: 10.1101/gr.248682.119. Genome Res. 2019. PMID: 31481461 Free PMC article.
Atypical chromosome 22q11.2 deletions are complex rearrangements and have different mechanistic origins.
Vervoort L, Demaerel W, Rengifo LY, Odrzywolski A, Vergaelen E, Hestand MS, Breckpot J, Devriendt K, Swillen A, McDonald-McGinn DM, Fiksinski AM, Zinkstok JR, Morrow BE, Heung T, Vorstman JAS, Bassett AS, Chow EWC, Shashi V; International 22q11.2 Brain; Behavior Consortium; Vermeesch JR. Vervoort L, et al. Hum Mol Genet. 2019 Nov 15;28(22):3724-3733. doi: 10.1093/hmg/ddz166. Hum Mol Genet. 2019. PMID: 31884517 Free PMC article.
The 22q11.2 Low Copy Repeats.
Vervoort L, Vermeesch JR. Vervoort L, et al. Genes (Basel). 2022 Nov 11;13(11):2101. doi: 10.3390/genes13112101. Genes (Basel). 2022. PMID: 36421776 Free PMC article. Review.
Multiple paralogues and recombination mechanisms drive the high incidence of 22q11.2 Deletion Syndrome.
Vervoort L, Dierckxsens N, Santos MS, Meynants S, Souche E, Cools R, Heung T, Devriendt K, Peeters H, McDonald-McGinn DM, Swillen A, Breckpot J, Emanuel BS, Van Esch H, Bassett AS, Vermeesch JR. Vervoort L, et al. bioRxiv [Preprint]. 2024 Mar 18:2024.03.14.585046. doi: 10.1101/2024.03.14.585046. bioRxiv. 2024. Update in: Genome Res. 2024 Nov 13:gr.279331.124. doi: 10.1101/gr.279331.124 PMID: 38562770 Free PMC article. Updated. Preprint.
False positivity in break apart fluorescence in-situ hybridization due to polyploidy.
van Gulik AL, Sluydts E, Vervoort L, Kockx M, Kortman P, Ylstra B, Finn SP, Bubendorf L, Bahce I, Sie D, Radonic T, Lissenberg-Witte B, Thunnissen E. van Gulik AL, et al. Among authors: vervoort l. Transl Lung Cancer Res. 2023 Apr 28;12(4):676-688. doi: 10.21037/tlcr-22-516. Epub 2023 Apr 18. Transl Lung Cancer Res. 2023. PMID: 37197629 Free PMC article.
GARFIELD-AF: risk profiles, treatment patterns and 2-year outcomes in patients with atrial fibrillation in Germany, Austria and Switzerland (DACH) compared to 32 countries in other regions worldwide.
Haas S, Camm JA, Harald D, Steffel J, Virdone S, Pieper K, Brodmann M, Schellong S, Misselwitz F, Kayani G, Kakkar AK; GARFIELD-AF Investigators. Haas S, et al. Clin Res Cardiol. 2023 Jun;112(6):759-771. doi: 10.1007/s00392-022-02079-y. Epub 2022 Sep 12. Clin Res Cardiol. 2023. PMID: 36094573
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