Cook SA - Search Results

1

NECTAR: a database of codon-centric missense variant annotations.

Gong S, Ware JS, Walsh R, Cook SA. Gong S, et al. Among authors: cook sa. 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.

2

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: cook sa. Nature. 2011 Oct 5;478(7367):114-8. doi: 10.1038/nature10490. Nature. 2011. PMID: 21979051 Free PMC article.

3

Next generation sequencing for clinical diagnostics and personalised medicine: implications for the next generation cardiologist.

Ware JS, Roberts AM, Cook SA. Ware JS, et al. Among authors: cook sa. Heart. 2012 Feb;98(4):276-81. doi: 10.1136/heartjnl-2011-300742. Epub 2011 Nov 29. Heart. 2012. PMID: 22128206 Review.

4

Republished review: Next generation sequencing for clinical diagnostics and personalised medicine: implications for the next generation cardiologist.

Ware JS, Roberts AM, Cook SA. Ware JS, et al. Among authors: cook sa. Postgrad Med J. 2012 Apr;88(1038):234-9. doi: 10.1136/pgmj.2011.300742rep. Postgrad Med J. 2012. PMID: 22441235

5

Paralogous annotation of disease-causing variants in long QT syndrome genes.

Ware JS, Walsh R, Cunningham F, Birney E, Cook SA. Ware JS, et al. Among authors: cook sa. Hum Mutat. 2012 Aug;33(8):1188-1191. doi: 10.1002/humu.22114. Epub 2012 Jun 7. Hum Mutat. 2012. PMID: 22581653 Free PMC article.

6

Next generation diagnostics in inherited arrhythmia syndromes : a comparison of two approaches.

Ware JS, John S, Roberts AM, Buchan R, Gong S, Peters NS, Robinson DO, Lucassen A, Behr ER, Cook SA. Ware JS, et al. Among authors: cook sa. J Cardiovasc Transl Res. 2013 Feb;6(1):94-103. doi: 10.1007/s12265-012-9401-8. Epub 2012 Sep 7. J Cardiovasc Transl Res. 2013. PMID: 22956155 Free PMC article.

7

Integrative genomics in cardiovascular medicine.

Ware JS, Petretto E, Cook SA. Ware JS, et al. Among authors: cook sa. Cardiovasc Res. 2013 Mar 15;97(4):623-30. doi: 10.1093/cvr/cvs303. Epub 2012 Sep 27. Cardiovasc Res. 2013. PMID: 23024270 Free PMC article. Review.

8

Towards clinical molecular diagnosis of inherited cardiac conditions: a comparison of bench-top genome DNA sequencers.

Li X, Buckton AJ, Wilkinson SL, John S, Walsh R, Novotny T, Valaskova I, Gupta M, Game L, Barton PJ, Cook SA, Ware JS. Li X, et al. Among authors: cook sa. PLoS One. 2013 Jul 4;8(7):e67744. doi: 10.1371/journal.pone.0067744. Print 2013. PLoS One. 2013. PMID: 23861798 Free PMC article.

9

Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia.

Walsh R, Peters NS, Cook SA, Ware JS. Walsh R, et al. Among authors: cook sa. J Med Genet. 2014 Jan;51(1):35-44. doi: 10.1136/jmedgenet-2013-101917. Epub 2013 Oct 17. J Med Genet. 2014. PMID: 24136861 Free PMC article.

10

Detection of mutations in KLHL3 and CUL3 in families with FHHt (familial hyperkalaemic hypertension or Gordon's syndrome).

Glover M, Ware JS, Henry A, Wolley M, Walsh R, Wain LV, Xu S, Van't Hoff WG, Tobin MD, Hall IP, Cook S, Gordon RD, Stowasser M, O'Shaughnessy KM. Glover M, et al. Clin Sci (Lond). 2014 May;126(10):721-6. doi: 10.1042/CS20130326. Clin Sci (Lond). 2014. PMID: 24266877 Free PMC article.

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