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Genetic modifiers to the PLN L39X mutation in a patient with DCM and sustained ventricular tachycardia?
Sanoudou D, Kolokathis F, Arvanitis D, Al-Shafai K, Krishnamoorthy N, Buchan RJ, Walsh R, Tsiapras D, Barton PJ, Cook SA, Kremastinos D, Yacoub M. Sanoudou D, et al. Among authors: buchan rj. Glob Cardiol Sci Pract. 2015 Jul 3;2015(2):29. doi: 10.5339/gcsp.2015.29. eCollection 2015. Glob Cardiol Sci Pract. 2015. PMID: 26535225 Free PMC article. No abstract available.
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. Among authors: buchan rj. 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.
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: buchan rj. 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.
47 results