List of works - Rachel Buchan

A trans-acting locus regulates an anti-viral expression network and type 1 diabetes risk

scientific article published on 8 September 2010

CardioClassifier: disease- and gene-specific computational decision support for clinical genome interpretation.

scientific article published on 25 January 2018

Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes.

scientific article published on 11 January 2017

Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes

scientific article published on 17 February 2016

Endonuclease G is a novel determinant of cardiac hypertrophy and mitochondrial function

scientific article

Genetic Etiology for Alcohol-Induced Cardiac Toxicity.

scientific article

Genetic modifiers to the PLN L39X mutation in a patient with DCM and sustained ventricular tachycardia?

scientific article

Genotype positive hypertrophic cardiomyopathy is associated with myocardial perfusion abnormalities.

scientific article published on 16 January 2014

Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: phenotypes linked by truncating variants in NDUFB11.

scientific article published on January 2017

Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease

scientific article

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

scientific article published on 7 September 2012

Phenotype and Clinical Outcomes of Titin Cardiomyopathy.

scientific article published in October 2017

Phenotypic Expression and Outcomes in Individuals With Rare Genetic Variants of Hypertrophic Cardiomyopathy

scientific article published on 01 September 2021

The Egyptian Collaborative Cardiac Genomics (ECCO-GEN) Project: defining a healthy volunteer cohort

scientific article published on 23 October 2020

Three-dimensional cardiovascular imaging-genetics: a mass univariate framework

scientific article published on 4 September 2017

Titin: a phenotype-genotype descriptive comparison of dilated cardiomyopathy.

scientific article published on 16 January 2014

Truncating Variants in Titin Independently Predict Early Arrhythmias in Patients With Dilated Cardiomyopathy.

scientific article published on May 2017

List of works by Rachel Buchan

A trans-acting locus regulates an anti-viral expression network and type 1 diabetes risk

CardioClassifier: disease- and gene-specific computational decision support for clinical genome interpretation.

Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes.

Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes

Endonuclease G is a novel determinant of cardiac hypertrophy and mitochondrial function

Genetic Etiology for Alcohol-Induced Cardiac Toxicity.

Genetic modifiers to the PLN L39X mutation in a patient with DCM and sustained ventricular tachycardia?

Genotype positive hypertrophic cardiomyopathy is associated with myocardial perfusion abnormalities.

Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: phenotypes linked by truncating variants in NDUFB11.

Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease

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

Phenotype and Clinical Outcomes of Titin Cardiomyopathy.

Phenotypic Expression and Outcomes in Individuals With Rare Genetic Variants of Hypertrophic Cardiomyopathy

The Egyptian Collaborative Cardiac Genomics (ECCO-GEN) Project: defining a healthy volunteer cohort

Three-dimensional cardiovascular imaging-genetics: a mass univariate framework

Titin: a phenotype-genotype descriptive comparison of dilated cardiomyopathy.

Truncating Variants in Titin Independently Predict Early Arrhythmias in Patients With Dilated Cardiomyopathy.