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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. Among authors: bottolo l. 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.
Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions.
Zhang X, Walsh R, Whiffin N, Buchan R, Midwinter W, Wilk A, Govind R, Li N, Ahmad M, Mazzarotto F, Roberts A, Theotokis PI, Mazaika E, Allouba M, de Marvao A, Pua CJ, Day SM, Ashley E, Colan SD, Michels M, Pereira AC, Jacoby D, Ho CY, Olivotto I, Gunnarsson GT, Jefferies JL, Semsarian C, Ingles J, O'Regan DP, Aguib Y, Yacoub MH, Cook SA, Barton PJR, Bottolo L, Ware JS. Zhang X, et al. Among authors: bottolo l. Genet Med. 2021 Jan;23(1):69-79. doi: 10.1038/s41436-020-00972-3. Epub 2020 Oct 13. Genet Med. 2021. PMID: 33046849 Free PMC article.
Bayesian detection of expression quantitative trait loci hot spots.
Bottolo L, Petretto E, Blankenberg S, Cambien F, Cook SA, Tiret L, Richardson S. Bottolo L, et al. Genetics. 2011 Dec;189(4):1449-59. doi: 10.1534/genetics.111.131425. Epub 2011 Sep 16. Genetics. 2011. PMID: 21926303 Free PMC article.
Endonuclease G is a novel determinant of cardiac hypertrophy and mitochondrial function.
McDermott-Roe C, Ye J, Ahmed R, Sun XM, Serafín A, Ware J, Bottolo L, Muckett P, Cañas X, Zhang J, Rowe GC, Buchan R, Lu H, Braithwaite A, Mancini M, Hauton D, Martí R, García-Arumí E, Hubner N, Jacob H, Serikawa T, Zidek V, Papousek F, Kolar F, Cardona M, Ruiz-Meana M, García-Dorado D, Comella JX, Felkin LE, Barton PJ, Arany Z, Pravenec M, Petretto E, Sanchis D, Cook SA. McDermott-Roe C, et al. Among authors: bottolo l. Nature. 2011 Oct 5;478(7367):114-8. doi: 10.1038/nature10490. Nature. 2011. PMID: 21979051 Free PMC article.
WWP2 regulates pathological cardiac fibrosis by modulating SMAD2 signaling.
Chen H, Moreno-Moral A, Pesce F, Devapragash N, Mancini M, Heng EL, Rotival M, Srivastava PK, Harmston N, Shkura K, Rackham OJL, Yu WP, Sun XM, Tee NGZ, Tan ELS, Barton PJR, Felkin LE, Lara-Pezzi E, Angelini G, Beltrami C, Pravenec M, Schafer S, Bottolo L, Hubner N, Emanueli C, Cook SA, Petretto E. Chen H, et al. Among authors: bottolo l. Nat Commun. 2019 Aug 9;10(1):3616. doi: 10.1038/s41467-019-11551-9. Nat Commun. 2019. PMID: 31399586 Free PMC article.
Author Correction: WWP2 regulates pathological cardiac fibrosis by modulating SMAD2 signaling.
Chen H, Moreno-Moral A, Pesce F, Devapragash N, Mancini M, Heng EL, Rotival M, Srivastava PK, Harmston N, Shkura K, Rackham OJL, Yu WP, Sun XM, Tee NGZ, Tan ELS, Barton PJR, Felkin LE, Lara-Pezzi E, Angelini G, Beltrami C, Pravenec M, Schafer S, Bottolo L, Hubner N, Emanueli C, Cook SA, Petretto E. Chen H, et al. Among authors: bottolo l. Nat Commun. 2019 Sep 9;10(1):4085. doi: 10.1038/s41467-019-12060-5. Nat Commun. 2019. PMID: 31501434 Free PMC article.
50 results