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TAD boundary deletion causes PITX2-related cardiac electrical and structural defects.
Baudic M, Murata H, Bosada FM, Melo US, Aizawa T, Lindenbaum P, van der Maarel LE, Guedon A, Baron E, Fremy E, Foucal A, Ishikawa T, Ushinohama H, Jurgens SJ, Choi SH, Kyndt F, Le Scouarnec S, Wakker V, Thollet A, Rajalu A, Takaki T, Ohno S, Shimizu W, Horie M, Kimura T, Ellinor PT, Petit F, Dulac Y, Bru P, Boland A, Deleuze JF, Redon R, Le Marec H, Le Tourneau T, Gourraud JB, Yoshida Y, Makita N, Vieyres C, Makiyama T, Mundlos S, Christoffels VM, Probst V, Schott JJ, Barc J. Baudic M, et al. Among authors: christoffels vm. Nat Commun. 2024 Apr 20;15(1):3380. doi: 10.1038/s41467-024-47739-x. Nat Commun. 2024. PMID: 38643172 Free PMC article.
Identification of atrial fibrillation associated genes and functional non-coding variants.
van Ouwerkerk AF, Bosada FM, van Duijvenboden K, Hill MC, Montefiori LE, Scholman KT, Liu J, de Vries AAF, Boukens BJ, Ellinor PT, Goumans MJTH, Efimov IR, Nobrega MA, Barnett P, Martin JF, Christoffels VM. van Ouwerkerk AF, et al. Among authors: christoffels vm. Nat Commun. 2019 Oct 18;10(1):4755. doi: 10.1038/s41467-019-12721-5. Nat Commun. 2019. PMID: 31628324 Free PMC article.
Genetics of sinoatrial node function and heart rate disorders.
van der Maarel LE, Postma AV, Christoffels VM. van der Maarel LE, et al. Among authors: christoffels vm. Dis Model Mech. 2023 May 1;16(5):dmm050101. doi: 10.1242/dmm.050101. Epub 2023 May 17. Dis Model Mech. 2023. PMID: 37194974 Free PMC article. Review.
Identification of Functional Variant Enhancers Associated With Atrial Fibrillation.
van Ouwerkerk AF, Bosada FM, Liu J, Zhang J, van Duijvenboden K, Chaffin M, Tucker NR, Pijnappels D, Ellinor PT, Barnett P, de Vries AAF, Christoffels VM. van Ouwerkerk AF, et al. Among authors: christoffels vm. Circ Res. 2020 Jul 3;127(2):229-243. doi: 10.1161/CIRCRESAHA.119.316006. Epub 2020 Apr 6. Circ Res. 2020. PMID: 32248749 Free article.
Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death.
Bezzina CR, Barc J, Mizusawa Y, Remme CA, Gourraud JB, Simonet F, Verkerk AO, Schwartz PJ, Crotti L, Dagradi F, Guicheney P, Fressart V, Leenhardt A, Antzelevitch C, Bartkowiak S, Borggrefe M, Schimpf R, Schulze-Bahr E, Zumhagen S, Behr ER, Bastiaenen R, Tfelt-Hansen J, Olesen MS, Kääb S, Beckmann BM, Weeke P, Watanabe H, Endo N, Minamino T, Horie M, Ohno S, Hasegawa K, Makita N, Nogami A, Shimizu W, Aiba T, Froguel P, Balkau B, Lantieri O, Torchio M, Wiese C, Weber D, Wolswinkel R, Coronel R, Boukens BJ, Bézieau S, Charpentier E, Chatel S, Despres A, Gros F, Kyndt F, Lecointe S, Lindenbaum P, Portero V, Violleau J, Gessler M, Tan HL, Roden DM, Christoffels VM, Le Marec H, Wilde AA, Probst V, Schott JJ, Dina C, Redon R. Bezzina CR, et al. Among authors: christoffels vm. Nat Genet. 2013 Sep;45(9):1044-9. doi: 10.1038/ng.2712. Epub 2013 Jul 21. Nat Genet. 2013. PMID: 23872634 Free PMC article.
Genome-Wide Analysis Identifies an Essential Human TBX3 Pacemaker Enhancer.
van Eif VWW, Protze SI, Bosada FM, Yuan X, Sinha T, van Duijvenboden K, Ernault AC, Mohan RA, Wakker V, de Gier-de Vries C, Hooijkaas IB, Wilson MD, Verkerk AO, Bakkers J, Boukens BJ, Black BL, Scott IC, Christoffels VM. van Eif VWW, et al. Among authors: christoffels vm. Circ Res. 2020 Dec 4;127(12):1522-1535. doi: 10.1161/CIRCRESAHA.120.317054. Epub 2020 Oct 12. Circ Res. 2020. PMID: 33040635 Free PMC article.
222 results