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Multi-Omic Architecture of Obstructive Hypertrophic Cardiomyopathy.
Garmany R, Bos JM, Tester DJ, Giudicessi JR, Dos Remedios CG, Dasari S, Nagaraj NK, Nair AA, Johnson KL, Ryan ZC, Maleszewski JJ, Ommen SR, Dearani JA, Ackerman MJ. Garmany R, et al. Among authors: bos jm. Circ Genom Precis Med. 2023 Apr;16(2):e003756. doi: 10.1161/CIRCGEN.122.003756. Epub 2023 Feb 20. Circ Genom Precis Med. 2023. PMID: 36802768
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.
Pandit B, Sarkozy A, Pennacchio LA, Carta C, Oishi K, Martinelli S, Pogna EA, Schackwitz W, Ustaszewska A, Landstrom A, Bos JM, Ommen SR, Esposito G, Lepri F, Faul C, Mundel P, López Siguero JP, Tenconi R, Selicorni A, Rossi C, Mazzanti L, Torrente I, Marino B, Digilio MC, Zampino G, Ackerman MJ, Dallapiccola B, Tartaglia M, Gelb BD. Pandit B, et al. Among authors: bos jm. Nat Genet. 2007 Aug;39(8):1007-12. doi: 10.1038/ng2073. Epub 2007 Jul 1. Nat Genet. 2007. PMID: 17603483
212 results