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Page 1
Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield.
Thomson KL, Ormondroyd E, Harper AR, Dent T, McGuire K, Baksi J, Blair E, Brennan P, Buchan R, Bueser T, Campbell C, Carr-White G, Cook S, Daniels M, Deevi SVV, Goodship J, Hayesmoore JBG, Henderson A, Lamb T, Prasad S, Rayner-Matthews P, Robert L, Sneddon L, Stark H, Walsh R, Ware JS, Farrall M, Watkins HC; NIHR BioResource – Rare Diseases Consortium. Thomson KL, et al. Among authors: walsh r. Genet Med. 2019 Jul;21(7):1576-1584. doi: 10.1038/s41436-018-0375-z. Epub 2018 Dec 11. Genet Med. 2019. PMID: 30531895 Free PMC article.
NECTAR: a database of codon-centric missense variant annotations.
Gong S, Ware JS, Walsh R, Cook SA. Gong S, et al. Among authors: walsh r. Nucleic Acids Res. 2014 Jan;42(Database issue):D1013-9. doi: 10.1093/nar/gkt1245. Epub 2013 Dec 1. Nucleic Acids Res. 2014. PMID: 24297257 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: walsh r. Sci Transl Med. 2015 Jan 14;7(270):270ra6. doi: 10.1126/scitranslmed.3010134. Sci Transl Med. 2015. PMID: 25589632 Free PMC article.
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: walsh r. 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.
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. Among authors: walsh r. 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.
2,137 results