Imperial College London

Rachel Buchan

Faculty of MedicineNational Heart & Lung Institute

Honorary Research Officer
 
 
 
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Contact

 

+44 (0)20 7352 8121 ext 88145rachel.buchan

 
 
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Location

 

2047Sydney StreetRoyal Brompton Campus

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Summary

 

Summary

Lab manager for the CV 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.

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

More Publications