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Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder.
Meuwissen M, Verstraeten A, Ranza E, Iwaszkiewicz J, Bastiaansen M, Mateiu L, Nemegeer M, Meester JAN, Afenjar A, Amaral M, Ballhausen D, Barnett S, Barth M, Asselbergh B, Spaas K, Heeman B, Bassetti J, Blackburn P, Schaer M, Blanc X, Zoete V, Casas K, Courtin T, Doummar D, Guerry F, Keren B, Pappas J, Rabin R, Begtrup A, Shinawi M, Vulto-van Silfhout AT, Kleefstra T, Wagner M, Ziegler A, Schaefer E, Gerard B, De Bie CI, Holwerda SJB, Abbot MA, Antonarakis SE, Loeys B. Meuwissen M, et al. Among authors: verstraeten a. Genet Med. 2022 Jul;24(7):1583-1591. doi: 10.1016/j.gim.2022.04.003. Epub 2022 May 2. Genet Med. 2022. PMID: 35499524 Free article.
TGF-β signalopathies as a paradigm for translational medicine.
Cannaerts E, van de Beek G, Verstraeten A, Van Laer L, Loeys B. Cannaerts E, et al. Among authors: verstraeten a. Eur J Med Genet. 2015 Dec;58(12):695-703. doi: 10.1016/j.ejmg.2015.10.010. Epub 2015 Oct 24. Eur J Med Genet. 2015. PMID: 26598797 Review.
Genetic Testing in Thoracic Aortic Disease--When, Why, and How?
Bowdin SC, Laberge AM, Verstraeten A, Loeys BL. Bowdin SC, et al. Among authors: verstraeten a. Can J Cardiol. 2016 Jan;32(1):131-4. doi: 10.1016/j.cjca.2015.09.018. Epub 2015 Sep 30. Can J Cardiol. 2016. PMID: 26604122
Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections.
Meester JA, Vandeweyer G, Pintelon I, Lammens M, Van Hoorick L, De Belder S, Waitzman K, Young L, Markham LW, Vogt J, Richer J, Beauchesne LM, Unger S, Superti-Furga A, Prsa M, Dhillon R, Reyniers E, Dietz HC, Wuyts W, Mortier G, Verstraeten A, Van Laer L, Loeys BL. Meester JA, et al. Among authors: verstraeten a. Genet Med. 2017 Apr;19(4):386-395. doi: 10.1038/gim.2016.126. Epub 2016 Sep 15. Genet Med. 2017. PMID: 27632686 Free PMC article.
Aetiology and management of hereditary aortopathy.
Verstraeten A, Luyckx I, Loeys B. Verstraeten A, et al. Nat Rev Cardiol. 2017 Apr;14(4):197-208. doi: 10.1038/nrcardio.2016.211. Epub 2017 Jan 19. Nat Rev Cardiol. 2017. PMID: 28102232 Review.
Left ventricular non-compaction with Ebstein anomaly attributed to a TPM1 mutation.
Nijak A, Alaerts M, Kuiperi C, Corveleyn A, Suys B, Paelinck B, Saenen J, Van Craenenbroeck E, Van Laer L, Loeys B, Verstraeten A. Nijak A, et al. Among authors: verstraeten a. Eur J Med Genet. 2018 Jan;61(1):8-10. doi: 10.1016/j.ejmg.2017.10.003. Epub 2017 Oct 9. Eur J Med Genet. 2018. PMID: 29024827
141 results