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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.
A trans locus causes a ribosomopathy in hypertrophic hearts that affects mRNA translation in a protein length-dependent fashion.
Witte F, Ruiz-Orera J, Mattioli CC, Blachut S, Adami E, Schulz JF, Schneider-Lunitz V, Hummel O, Patone G, Mücke MB, Šilhavý J, Heinig M, Bottolo L, Sanchis D, Vingron M, Chekulaeva M, Pravenec M, Hubner N, van Heesch S. Witte F, et al. Among authors: bottolo l. Genome Biol. 2021 Jun 28;22(1):191. doi: 10.1186/s13059-021-02397-w. Genome Biol. 2021. PMID: 34183069 Free PMC article.
Prioritizing the Role of Major Lipoproteins and Subfractions as Risk Factors for Peripheral Artery Disease.
Levin MG, Zuber V, Walker VM, Klarin D, Lynch J, Malik R, Aday AW, Bottolo L, Pradhan AD, Dichgans M, Chang KM, Rader DJ, Tsao PS, Voight BF, Gill D, Burgess S, Damrauer SM. Levin MG, et al. Among authors: bottolo l. Circulation. 2021 Aug 3;144(5):353-364. doi: 10.1161/CIRCULATIONAHA.121.053797. Epub 2021 Jun 18. Circulation. 2021. PMID: 34139859 Free PMC article.
50 results