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Page 1
Loeys-Dietz Syndrome.
Velchev JD, Van Laer L, Luyckx I, Dietz H, Loeys B. Velchev JD, et al. Adv Exp Med Biol. 2021;1348:251-264. doi: 10.1007/978-3-030-80614-9_11. Adv Exp Med Biol. 2021. PMID: 34807423
A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8.
Van Gucht I, Meester JAN, Bento JR, Bastiaansen M, Bastianen J, Luyckx I, Van Den Heuvel L, Neutel CHG, Guns PJ, Vermont M, Fransen E, Perik MHAM, Velchev JD, Alaerts M, Schepers D, Peeters S, Pintelon I, Almesned A, Ferla MP, Taylor JC, Dallosso AR, Williams M, Evans J; Genomics England Research Consortium; Rosenfeld JA, Sluysmans T, Rodrigues D, Chikermane A, Bharmappanavara G, Vijayakumar K, Mottaghi Moghaddam Shahri H, Hashemi N, Torbati PN, Toosi MB, Al-Hassnan ZN, Vogt J, Revencu N, Maystadt I, Miller EM, Weaver KN, Begtrup A, Houlden H, Murphy D, Maroofian R, Pagnamenta AT, Van Laer L, Loeys BL, Verstraeten A. Van Gucht I, et al. Among authors: velchev jd. Am J Hum Genet. 2021 Jun 3;108(6):1115-1125. doi: 10.1016/j.ajhg.2021.04.019. Epub 2021 May 18. Am J Hum Genet. 2021. PMID: 34010605 Free PMC article.
Sexual dimorphism in SMAD3 pathogenic variant-harbouring individuals.
Richer J, Velchev JD, Goobie S, Boswell-Patterson CA, van de Laar IMBH, Verhagen JMA, Wessels MW, Roos-Hesselink JW, Luyckx I, Al-Amodi H, Chu MWA, Laberge AM, Sadikovic B, Balci T, Verstraeten A, Loeys B. Richer J, et al. Among authors: velchev jd. J Med Genet. 2025 Jan 2:jmg-2024-110219. doi: 10.1136/jmg-2024-110219. Online ahead of print. J Med Genet. 2025. PMID: 39746778