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Reduced Penetrance and Variable Expression of SCN5A Mutations and the Importance of Co-inherited Genetic Variants: Case Report and Review of the Literature.
Robyns T, Nuyens D, Van Casteren L, Corveleyn A, De Ravel T, Heidbuchel H, Willems R. Robyns T, et al. Among authors: corveleyn a. Indian Pacing Electrophysiol J. 2014 May 25;14(3):133-49. doi: 10.1016/s0972-6292(16)30754-9. eCollection 2014 May. Indian Pacing Electrophysiol J. 2014. PMID: 24948852 Free PMC article.
Compound heterozygous loss-of-function mutations in KIF20A are associated with a novel lethal congenital cardiomyopathy in two siblings.
Louw JJ, Nunes Bastos R, Chen X, Verdood C, Corveleyn A, Jia Y, Breckpot J, Gewillig M, Peeters H, Santoro MM, Barr F, Devriendt K. Louw JJ, et al. Among authors: corveleyn a. PLoS Genet. 2018 Jan 22;14(1):e1007138. doi: 10.1371/journal.pgen.1007138. eCollection 2018 Jan. PLoS Genet. 2018. PMID: 29357359 Free PMC article.
Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability.
Verheije R, Kupchik GS, Isidor B, Kroes HY, Lynch SA, Hawkes L, Hempel M, Gelb BD, Ghoumid J, D'Amours G, Chandler K, Dubourg C, Loddo S, Tümer Z, Shaw-Smith C, Nizon M, Shevell M, Van Hoof E, Anyane-Yeboa K, Cerbone G, Clayton-Smith J, Cogné B, Corre P, Corveleyn A, De Borre M, Hjortshøj TD, Fradin M, Gewillig M, Goldmuntz E, Hens G, Lemyre E, Journel H, Kini U, Kortüm F, Le Caignec C, Novelli A, Odent S, Petit F, Revah-Politi A, Stong N, Strom TM, van Binsbergen E; DDD study; Devriendt K, Breckpot J. Verheije R, et al. Among authors: corveleyn a. Eur J Hum Genet. 2019 Feb;27(2):278-290. doi: 10.1038/s41431-018-0281-5. Epub 2018 Oct 5. Eur J Hum Genet. 2019. PMID: 30291340 Free PMC article.
65 results