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Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals.
Whiffin N, Karczewski KJ, Zhang X, Chothani S, Smith MJ, Evans DG, Roberts AM, Quaife NM, Schafer S, Rackham O, Alföldi J, O'Donnell-Luria AH, Francioli LC; Genome Aggregation Database Production Team; Genome Aggregation Database Consortium; Cook SA, Barton PJR, MacArthur DG, Ware JS. Whiffin N, et al. Among authors: barton pjr. Nat Commun. 2020 May 27;11(1):2523. doi: 10.1038/s41467-019-10717-9. Nat Commun. 2020. PMID: 32461616 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. Nature. 2011 Oct 5;478(7367):114-8. doi: 10.1038/nature10490. Nature. 2011. PMID: 21979051 Free PMC article.
Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.
Roberts AM, Ware JS, Herman DS, Schafer S, Baksi J, Bick AG, Buchan RJ, Walsh R, John S, Wilkinson S, Mazzarotto F, Felkin LE, Gong S, MacArthur JA, Cunningham F, Flannick J, Gabriel SB, Altshuler DM, Macdonald PS, Heinig M, Keogh AM, Hayward CS, Banner NR, Pennell DJ, O'Regan DP, San TR, de Marvao A, Dawes TJ, Gulati A, Birks EJ, Yacoub MH, Radke M, Gotthardt M, Wilson JG, O'Donnell CJ, Prasad SK, Barton PJ, Fatkin D, Hubner N, Seidman JG, Seidman CE, Cook SA. Roberts AM, et al. Sci Transl Med. 2015 Jan 14;7(270):270ra6. doi: 10.1126/scitranslmed.3010134. Sci Transl Med. 2015. PMID: 25589632 Free PMC article.
Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes.
Pua CJ, Bhalshankar J, Miao K, Walsh R, John S, Lim SQ, Chow K, Buchan R, Soh BY, Lio PM, Lim J, Schafer S, Lim JQ, Tan P, Whiffin N, Barton PJ, Ware JS, Cook SA. Pua CJ, et al. J Cardiovasc Transl Res. 2016 Feb;9(1):3-11. doi: 10.1007/s12265-016-9673-5. Epub 2016 Feb 17. J Cardiovasc Transl Res. 2016. PMID: 26888179 Free PMC article.
Titin-truncating variants affect heart function in disease cohorts and the general population.
Schafer S, de Marvao A, Adami E, Fiedler LR, Ng B, Khin E, Rackham OJ, van Heesch S, Pua CJ, Kui M, Walsh R, Tayal U, Prasad SK, Dawes TJ, Ko NS, Sim D, Chan LL, Chin CW, Mazzarotto F, Barton PJ, Kreuchwig F, de Kleijn DP, Totman T, Biffi C, Tee N, Rueckert D, Schneider V, Faber A, Regitz-Zagrosek V, Seidman JG, Seidman CE, Linke WA, Kovalik JP, O'Regan D, Ware JS, Hubner N, Cook SA. Schafer S, et al. Nat Genet. 2017 Jan;49(1):46-53. doi: 10.1038/ng.3719. Epub 2016 Nov 21. Nat Genet. 2017. PMID: 27869827 Free PMC article.
Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: phenotypes linked by truncating variants in NDUFB11.
Rea G, Homfray T, Till J, Roses-Noguer F, Buchan RJ, Wilkinson S, Wilk A, Walsh R, John S, McKee S, Stewart FJ, Murday V, Taylor RW, Ashworth M, Baksi AJ, Daubeney P, Prasad S, Barton PJR, Cook SA, Ware JS. Rea G, et al. Among authors: barton pjr. Cold Spring Harb Mol Case Stud. 2017 Jan;3(1):a001271. doi: 10.1101/mcs.a001271. Cold Spring Harb Mol Case Stud. 2017. PMID: 28050600 Free PMC article.
179 results