Summary
Lab manager and Project Coordinator in the Cardiovascular Genetics lab at Royal Brompton campus - specialising in next-generation DNA sequencing.
Project Coordinator for the Heart Hive - an online platform to connect researchers with patients with cardiomyopathy and myocarditis. The Heart Hive participants control their own data, decide which research opportunities to take part in and can feedback directly to researchers to help design more impactful studies.
Rachel graduated from University of Bristol in 2005, completed a Masters degree at Imperial College in 2006 and joined the group in 2007.
Selected Publications
Journal Articles
Mazzarotto F, Tayal U, Buchan RJ, et al. , 2020, Re-evaluating the genetic contribution of monogenic dilated cardiomyopathy, Circulation, Vol:141, ISSN:0009-7322, Pages:387-398
Thomson KL, Ormondroyd E, Harper AR, et al. , 2019, Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield, Genetics in Medicine, Vol:21, ISSN:1098-3600, Pages:1576-1584
Corden B, Jarman J, Whiffin N, et al. , 2019, Association between titin truncating variants and life-threatening cardiac arrhythmias in patients with dilated cardiomyopathy and implantable defibrillator, Jama Network Open, Vol:2, ISSN:2574-3805, Pages:1-12
Ware JS, Amor-Salamanca A, Tayal U, et al. , 2018, A genetic etiology for alcohol-induced cardiac toxicity, Journal of the American College of Cardiology, Vol:71, ISSN:0735-1097, Pages:2293-2302
Whiffin N, walsh R, Govind R, et al. , 2018, CardioClassifier: disease- and gene-specific computational decision support for clinical genome interpretation, Genetics in Medicine, Vol:20, ISSN:1098-3600, Pages:1246-1254
Walsh R, Buchan R, Wilk A, et al. , 2017, Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes, European Heart Journal, Vol:38, ISSN:1522-9645, Pages:3461-3468
Tayal U, Newsome S, Buchan R, et al. , 2017, Phenotype and clinical outcomes of titin cardiomyopathy, Journal of the American College of Cardiology, Vol:70, ISSN:0735-1097, Pages:2264-2274
Tayal U, Newsome S, Buchan R, et al. , 2017, Truncating variants in titin independently predict early arrhythmias in patients with dilated cardiomyopathy, Journal of the American College of Cardiology, Vol:69, ISSN:1558-3597, Pages:2466-2468
rea G, Homfray T, Till J, et al. , 2016, Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: phenotypes linked by truncating variants in NDUFB11, Cold Spring Harbor Molecular Case Studies, Vol:3, ISSN:2373-2873
Pua CJ, Bhalshankar J, Miao K, et al. , 2016, Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes, Journal of Cardiovascular Translational Research, Vol:9, ISSN:1937-5395, Pages:3-11
Tayal U, Mazzarotto F, Buchan R, et al. , 2015, Comprehensive Assessment of Rare Genetic Variation in Dilated Cardiomyopathy Genes in Patients and Controls (vol 101, pg A41, 2015), Heart, Vol:101, ISSN:1355-6037
Roberts AM, Ware JS, Herman DS, et al. , 2015, Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease, Science Translational Medicine, Vol:7, ISSN:1946-6234, Pages:270ra6-270ra6
Ware JS, John S, Roberts AM, et al. , 2013, Next Generation Diagnostics in Inherited Arrhythmia Syndromes, Journal of Cardiovascular Translational Research, Vol:6, ISSN:1937-5387, Pages:94-103
McDermott-Roe C, Ye J, Ahmed R, et al. , 2011, Endonuclease G is a novel determinant of cardiac hypertrophy and mitochondrial function, Nature, Vol:478, Pages:114-118
Heinig M, Petretto E, Wallace C, et al. , 2010, A trans-acting locus regulates an anti-viral expression network and type 1 diabetes risk, Nature, Vol:467, ISSN:0028-0836, Pages:460-464
Lu H, Buchan RJ, Cook SA, 2010, MicroRNA-223 regulates Glut4 expression and cardiomyocyte glucose metabolism, Cardiovascular Research, Vol:86, ISSN:0008-6363, Pages:410-420
Conference
Walsh R, Mazzarotto F, Whiffin N, et al. , 2019, Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases, 52nd Conference of the European-Society-of-Human-Genetics (ESHG), NATURE PUBLISHING GROUP, Pages:1720-1720, ISSN:1018-4813
Mazzarotto F, Tayal P, Buchan R, et al. , 2019, RE-EVALUATING THE GENETIC CONTRIBUTION OF MONOGENIC DILATED CARDIOMYOPATHY, Annual Conference of the British-Cardiovascular-Society (BCS) - Digital Health Revolution, BMJ PUBLISHING GROUP, Pages:A100-A100, ISSN:1355-6037
Tayal U, Newsome S, Buchan R, et al. , 2016, The presence of a truncating mutation in titin independently associates with arrhythmic burden in patients with dilated cardiomyopathy, Heart Failure 2016 Conference, Wiley, Pages:156-156, ISSN:1879-0844
Rea G, Ware JS, Homfray T, et al. , 2016, HISTIOCYTOID CARDIOMYOPATHY AND MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME: PHENOTYPES LINKED BY TRUNCATING VARIANTS IN NDUFB11, Annual Meeting of the British-Congenital-Cardiac-Association, BMJ PUBLISHING GROUP, Pages:A18-A18, ISSN:1355-6037