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Genotype-Phenotype Taxonomy of Hypertrophic Cardiomyopathy.
Circ Genom Precis Med. 2023 Dec;16(6):e004200. doi: 10.1161/CIRCGEN.123.004200. Epub 2023 Nov 28.
Circ Genom Precis Med. 2023.
PMID: 38014537
Free PMC article.
Elimination of CaMKIIδ Autophosphorylation by CRISPR-Cas9 Base Editing Improves Survival and Cardiac Function in Heart Failure in Mice.
Lebek S, Caravia XM, Chemello F, Tan W, McAnally JR, Chen K, Xu L, Liu N, Bassel-Duby R, Olson EN.
Lebek S, et al.
Circulation. 2023 Nov 7;148(19):1490-1504. doi: 10.1161/CIRCULATIONAHA.123.065117. Epub 2023 Sep 15.
Circulation. 2023.
PMID: 37712250
Free article.
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The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings.
McGurk KA, Zhang X, Theotokis P, Thomson K, Harper A, Buchan RJ, Mazaika E, Ormondroyd E, Wright WT, Macaya D, Pua CJ, Funke B, MacArthur DG, Prasad SK, Cook SA, Allouba M, Aguib Y, Yacoub MH, O'Regan DP, Barton PJR, Watkins H, Bottolo L, Ware JS.
McGurk KA, et al.
Am J Hum Genet. 2023 Sep 7;110(9):1482-1495. doi: 10.1016/j.ajhg.2023.08.003. Epub 2023 Aug 30.
Am J Hum Genet. 2023.
PMID: 37652022
Free PMC article.
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Efficient in vivo genome editing prevents hypertrophic cardiomyopathy in mice.
Reichart D, Newby GA, Wakimoto H, Lun M, Gorham JM, Curran JJ, Raguram A, DeLaughter DM, Conner DA, Marsiglia JDC, Kohli S, Chmatal L, Page DC, Zabaleta N, Vandenberghe L, Liu DR, Seidman JG, Seidman C.
Reichart D, et al.
Nat Med. 2023 Feb;29(2):412-421. doi: 10.1038/s41591-022-02190-7. Epub 2023 Feb 16.
Nat Med. 2023.
PMID: 36797483
Free PMC article.
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Base editing correction of hypertrophic cardiomyopathy in human cardiomyocytes and humanized mice.
Chai AC, Cui M, Chemello F, Li H, Chen K, Tan W, Atmanli A, McAnally JR, Zhang Y, Xu L, Liu N, Bassel-Duby R, Olson EN.
Chai AC, et al.
Nat Med. 2023 Feb;29(2):401-411. doi: 10.1038/s41591-022-02176-5. Epub 2023 Feb 16.
Nat Med. 2023.
PMID: 36797478
Free PMC article.
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Large scale genome-wide association analyses identify novel genetic loci and mechanisms in hypertrophic cardiomyopathy.
Tadros R, Zheng SL, Grace C, Jordà P, Francis C, Jurgens SJ, Thomson KL, Harper AR, Ormondroyd E, West DM, Xu X, Theotokis PI, Buchan RJ, McGurk KA, Mazzarotto F, Boschi B, Pelo E, Lee M, Noseda M, Varnava A, Vermeer AM, Walsh R, Amin AS, van Slegtenhorst MA, Roslin N, Strug LJ, Salvi E, Lanzani C, de Marvao A; Hypergenes InterOmics Collaborators; Roberts JD, Tremblay-Gravel M, Giraldeau G, Cadrin-Tourigny J, L'Allier PL, Garceau P, Talajic M, Pinto YM, Rakowski H, Pantazis A, Baksi J, Halliday BP, Prasad SK, Barton PJ, O'Regan DP, Cook SA, de Boer RA, Christiaans I, Michels M, Kramer CM, Ho CY, Neubauer S; HCMR Investigators; Matthews PM, Wilde AA, Tardif JC, Olivotto I, Adler A, Goel A, Ware JS, Bezzina CR, Watkins H.
Tadros R, et al.
medRxiv [Preprint]. 2023 Feb 6:2023.01.28.23285147. doi: 10.1101/2023.01.28.23285147.
medRxiv. 2023.
PMID: 36778260
Free PMC article.
Preprint.
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