Ingles J - Search Results

1

Recommendations for clinical interpretation of variants found in non-coding regions of the genome.

Ellingford JM, Ahn JW, Bagnall RD, Baralle D, Barton S, Campbell C, Downes K, Ellard S, Duff-Farrier C, FitzPatrick DR, Greally JM, Ingles J, Krishnan N, Lord J, Martin HC, Newman WG, O'Donnell-Luria A, Ramsden SC, Rehm HL, Richardson E, Singer-Berk M, Taylor JC, Williams M, Wood JC, Wright CF, Harrison SM, Whiffin N. Ellingford JM, et al. Among authors: ingles j. Genome Med. 2022 Jul 19;14(1):73. doi: 10.1186/s13073-022-01073-3. Genome Med. 2022. PMID: 35850704 Free PMC article.

2

Mutations in alpha-actinin-2 cause hypertrophic cardiomyopathy: a genome-wide analysis.

Chiu C, Bagnall RD, Ingles J, Yeates L, Kennerson M, Donald JA, Jormakka M, Lind JM, Semsarian C. Chiu C, et al. Among authors: ingles j. J Am Coll Cardiol. 2010 Mar 16;55(11):1127-35. doi: 10.1016/j.jacc.2009.11.016. J Am Coll Cardiol. 2010. PMID: 20022194 Free article.

3

Molecular diagnostics of cardiomyopathies: the future is here.

Bagnall RD, Ingles J, Semsarian C. Bagnall RD, et al. Among authors: ingles j. Circ Cardiovasc Genet. 2011 Apr;4(2):103-4. doi: 10.1161/CIRCGENETICS.110.959247. Circ Cardiovasc Genet. 2011. PMID: 21505198 No abstract available.

4

Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment.

Das K J, Ingles J, Bagnall RD, Semsarian C. Das K J, et al. Among authors: ingles j. Genet Med. 2014 Apr;16(4):286-93. doi: 10.1038/gim.2013.138. Epub 2013 Oct 10. Genet Med. 2014. PMID: 24113344 Free article.

5

ClinGen--the Clinical Genome Resource.

Rehm HL, Berg JS, Brooks LD, Bustamante CD, Evans JP, Landrum MJ, Ledbetter DH, Maglott DR, Martin CL, Nussbaum RL, Plon SE, Ramos EM, Sherry ST, Watson MS; ClinGen. Rehm HL, et al. N Engl J Med. 2015 Jun 4;372(23):2235-42. doi: 10.1056/NEJMsr1406261. Epub 2015 May 27. N Engl J Med. 2015. PMID: 26014595 Free PMC article.

6

NOS1AP Polymorphisms Modify QTc Interval Duration But Not Cardiac Arrest Risk in Hypertrophic Cardiomyopathy.

Earle N, Ingles J, Bagnall RD, Gray B, Crawford J, Smith W, Shelling AN, Love DR, Semsarian C, Skinner JR. Earle N, et al. Among authors: ingles j. J Cardiovasc Electrophysiol. 2015 Dec;26(12):1346-51. doi: 10.1111/jce.12827. Epub 2015 Oct 13. J Cardiovasc Electrophysiol. 2015. PMID: 26332198

7

A novel heterozygous mutation in cardiac calsequestrin causes autosomal dominant catecholaminergic polymorphic ventricular tachycardia.

Gray B, Bagnall RD, Lam L, Ingles J, Turner C, Haan E, Davis A, Yang PC, Clancy CE, Sy RW, Semsarian C. Gray B, et al. Among authors: ingles j. Heart Rhythm. 2016 Aug;13(8):1652-60. doi: 10.1016/j.hrthm.2016.05.004. Epub 2016 May 5. Heart Rhythm. 2016. PMID: 27157848 Free PMC article.

8

Exome sequencing-based molecular autopsy of formalin-fixed paraffin-embedded tissue after sudden death.

Bagnall RD, Ingles J, Yeates L, Berkovic SF, Semsarian C. Bagnall RD, et al. Among authors: ingles j. Genet Med. 2017 Oct;19(10):1127-1133. doi: 10.1038/gim.2017.15. Epub 2017 Mar 23. Genet Med. 2017. PMID: 28333919 Free article.

9

Nonfamilial Hypertrophic Cardiomyopathy: Prevalence, Natural History, and Clinical Implications.

Ingles J, Burns C, Bagnall RD, Lam L, Yeates L, Sarina T, Puranik R, Briffa T, Atherton JJ, Driscoll T, Semsarian C. Ingles J, et al. Circ Cardiovasc Genet. 2017 Apr;10(2):e001620. doi: 10.1161/CIRCGENETICS.116.001620. Circ Cardiovasc Genet. 2017. PMID: 28408708 Free article.

10

Exome sequencing identifies a novel mutation in the MYH6 gene in a family with early-onset sinus node dysfunction, ventricular arrhythmias, and cardiac arrest.

Lam L, Ingles J, Turner C, Kilborn M, Bagnall RD, Semsarian C. Lam L, et al. Among authors: ingles j. HeartRhythm Case Rep. 2015 Apr 30;1(3):141-145. doi: 10.1016/j.hrcr.2015.01.022. eCollection 2015 May. HeartRhythm Case Rep. 2015. PMID: 28491533 Free PMC article. No abstract available.

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