Author details

Full Name

Rachel Buchan

Affiliation

ORCID

Career Start Year

2010

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
38032570	Sex Differences in the Clinical Presentation and Natural History ofÂ Dilated Cardiomyopathy.	JACC Heart Fail	2024
37431535	Ethnicity, consanguinity, and genetic architecture of hypertrophic cardiomyopathy.		2023
38014537	Genotype-Phenotype Taxonomy of Hypertrophic Cardiomyopathy.		2023
37652022	The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings.	Am J Hum Genet	2023
37702310	Assessing the association between genetic and phenotypic features of dilated cardiomyopathy and outcome in patients with coronary artery disease.		2023
36778260	Large scale genome-wide association analyses identify novel genetic loci and mechanisms in hypertrophic cardiomyopathy.	medRxiv	2023
35086919	Direct and indirect effect of the COVID-19 pandemic on patients with cardiomyopathy.	Open Heart	2022
35654493	Precision Phenotyping of Dilated Cardiomyopathy Using Multidimensional Data.	J Am Coll Cardiol	2022
36154167	Genetic Architecture of Acute Myocarditis and the Overlap With Inherited Cardiomyopathy.	Circulation	2022
36277766	The addition of genetic testing and cardiovascular magnetic resonance to routine clinical data for stratification of etiology in dilated cardiomyopathy.	Frontiers in Cardiovascular Medicine	2022
35926050	Pathogenic variants damage cell composition and single cell transcription in cardiomyopathies.	Science	2022
34380661	Moderate excess alcohol consumption and adverse cardiac remodelling in dilated cardiomyopathy.	Heart	2022
34503678	Phenotypic Expression and Outcomes in Individuals With Rare Genetic Variants of Hypertrophic Cardiomyopathy.	Journal of the American College of Cardiology	2021
34274268	Prognostic Significance of Nonischemic Myocardial Fibrosis in Patients With Normal LV Volumes and Ejection-Fraction.	JACC Cardiovasc Imaging	2021
33495596	Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect.	Nat Genet	2021
33046849	Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions.	Genet Med	2021
34460321	New Variant With a Previously Unrecognized Mechanism of Pathogenicity in Hypertrophic Cardiomyopathy.	Circulation	2021
33110626	The Egyptian Collaborative Cardiac Genomics (ECCO-GEN) Project: defining a healthy volunteer cohort.	npj Genomic Medicine	2020
31983221	Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.	Circulation	2020
32815737	Genetic Studies of Hypertrophic Cardiomyopathy in Singaporeans Identify Variants in <i>TNNI3</i> and <i>TNNT2</i> That Are Common in Chinese Patients.	Circ Genom Precis Med	2020
30987448	Genetic Variants Associated With Cancer Therapy-Induced Cardiomyopathy.	Circulation	2019
30531895	Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield.	Genet Med	2019
30696458	Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy.	Genome Med	2019
31251381	Association of Titin-Truncating Genetic Variants With Life-threatening Cardiac Arrhythmias in Patients With Dilated Cardiomyopathy and Implanted Defibrillators.	JAMA network open	2019
29773157	Genetic Etiology for Alcohol-Induced Cardiac Toxicity.	Journal of the American College of Cardiology	2018
28968671	Three-dimensional cardiovascular imaging-genetics: a mass univariate framework.		2018
29369293	CardioClassifier: disease- and gene-specific computational decision support for clinical genome interpretation.	Genetics in Medicine	2018
28082330	Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes.	Eur Heart J	2017
28494986	Truncating Variants in Titin Independently Predict Early Arrhythmias in Patients With Dilated Cardiomyopathy.	Journal of the American College of Cardiology	2017
29073955	Phenotype and Clinical Outcomes of TitinÂ Cardiomyopathy.	J Am Coll Cardiol	2017
28050600	Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: phenotypes linked by truncating variants in <i>NDUFB11</i>.	Cold Spring Harb Mol Case Stud	2017
26888179	Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes.	Journal of Cardiovascular Translational Research	2016
26535225	Genetic modifiers to the PLN L39X mutation in a patient with DCM and sustained ventricular tachycardia?	Glob Cardiol Sci Pract	2015
25589632	Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.	Sci Transl Med	2015
26175529	ZBTB17 (MIZ1) Is Important for the Cardiac Stress Response and a Novel Candidate Gene for Cardiomyopathy and Heart Failure.	Circ Cardiovasc Genet	2015
22956155	Next generation diagnostics in inherited arrhythmia syndromes : a comparison of two approaches.	J Cardiovasc Transl Res	2013
21979051	Endonuclease G is a novel determinant of cardiac hypertrophy and mitochondrial function.	Nature	2011
20080987	MicroRNA-223 regulates Glut4 expression and cardiomyocyte glucose metabolism.	Cardiovascular Research	2010
20827270	A trans-acting locus regulates an anti-viral expression network and type 1 diabetes risk.	Nature	2010