Search filters

List of works by James Ware

Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel

scientific article published on 4 January 2018

Ajmaline blocks INa and IKr without eliciting differences between Brugada syndrome patient and control human pluripotent stem cell-derived cardiac clusters.

scientific article published on 7 November 2017

An International, Multicentered, Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome

scientific article published on 27 January 2020

Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield

article

Analysis of protein-coding genetic variation in 60,706 humans

scientific article (publication date: 17 August 2016)

Association of Titin-Truncating Genetic Variants With Life-threatening Cardiac Arrhythmias in Patients With Dilated Cardiomyopathy and Implanted Defibrillators

scientific article published on 05 June 2019

Bayesian models for syndrome- and gene-specific probabilities of novel variant pathogenicity

scientific article

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

scientific article published on 25 January 2018

Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals

scientific article published on 27 May 2020

ClinVar data parsing

scientific article

Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy

scientific article published on 26 March 2021

Congenital titinopathy: Comprehensive characterisation and pathogenic insights

scientific article published on 25 April 2018

De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies

scientific article published on December 2015

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

scientific article published on 11 January 2017

Detection of mutations in KLHL3 and CUL3 in families with FHHt (familial hyperkalaemic hypertension or Gordon's syndrome).

scientific article published on May 2014

Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes

scientific article published on 17 February 2016

Diagnostic yield of hypertrophic cardiomyopathy in first-degree relatives of decedents with idiopathic left ventricular hypertrophy

scientific article published on 03 February 2020

Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions

scientific article published on 13 October 2020

Effect of taurine administration on symptoms, severity, or clinical outcome of dilated cardiomyopathy and heart failure in humans: a systematic review

scientific article published on 07 July 2022

Effects of myosin variants on interacting-heads motif explain distinct hypertrophic and dilated cardiomyopathy phenotypes.

scientific article published on 13 June 2017

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

scientific article

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls

scientific article published on 7 September 2020

Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes

article

Evidence-Based Assessment of Genes in Dilated Cardiomyopathy

scientific article published on 6 July 2021

Founder Mutation in N-terminus of Cardiac Troponin I Causes Malignant Hypertrophic Cardiomyopathy

scientific article published on 04 September 2020

Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders

scientific article published on 17 March 2020

Genetic Etiology for Alcohol-Induced Cardiac Toxicity.

scientific article

Genetic Variants Associated With Cancer Therapy-Induced Cardiomyopathy

scientific article published on 16 April 2019

Genetic and functional insights into the fractal structure of the heart

scientific article published on 19 August 2020

Genomic variant sharing: a position statement

scientific article published on 05 February 2019

Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy: Insights from the Sarcomeric Human Cardiomyopathy Registry (SHaRe)

scientific article published on 23 August 2018

Genotype positive hypertrophic cardiomyopathy is associated with myocardial perfusion abnormalities.

scientific article published on 16 January 2014

Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM)

scientific article published in May 2021

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

scientific article published on January 2017

Identification of an INa-dependent and Ito-mediated proarrhythmic mechanism in cardiomyocytes derived from pluripotent stem cells of a Brugada syndrome patient.

scientific article published on 26 July 2018

Improving the Understanding of Genetic Variants in Rare Disease With Large-scale Reference Populations

scientific article published on 30 August 2019

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

scientific article

Integrative genomics in cardiovascular medicine ⬇️

scientific article published on September 27, 2012

Interpreting de novo Variation in Human Disease Using denovolyzeR.

scientific article published on 6 October 2015

Loss of RNA expression and allele-specific expression associated with congenital heart disease.

scientific article published on 27 September 2016

Moderate Physical Activity in Healthy Adults Is Associated With Cardiac Remodeling

scientific article published on August 2016

NECTAR: a database of codon-centric missense variant annotations

scientific article

Natural genetic variation of the cardiac transcriptome in non-diseased donors and patients with dilated cardiomyopathy.

scientific article published on 14 September 2017

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

scientific article published on 7 September 2012

Next generation sequencing for clinical diagnostics and personalised medicine: implications for the next generation cardiologist ⬇️

scientific article published on November 29, 2011

Next-generation sequencing using microfluidic PCR enrichment for molecular autopsy

scientific article published on 23 July 2019

Paralogous annotation of disease-causing variants in long QT syndrome genes

scientific article

Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia.

scientific article published on 17 October 2013

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

Phenotypic and pharmacogenetic evaluation of patients with thiazide-induced hyponatremia

scientific article published on 7 August 2017

Predictors of left ventricular remodelling in patients with dilated cardiomyopathy - a cardiovascular magnetic resonance study

scientific article published on 13 February 2020

Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy

scientific article published on 29 January 2019

Reappraisal of Reported Genes for Sudden Arrhythmic Death: An Evidence-Based Evaluation of Gene Validity for Brugada Syndrome

article

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

scientific article published on 17 August 2016

Recovery of Cardiac Function in Cardiomyopathy Caused by Titin Truncation.

scientific article

Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy

scientific article published on 27 January 2020

Republished review: Next generation sequencing for clinical diagnostics and personalised medicine: implications for the next generation cardiologist ⬇️

scientific article published on April 1, 2012

Response by Ho et al to Letter Regarding Article, "Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy: Insights From the Sarcomeric Human Cardiomyopathy Registry (SHaRe)"

scientific article published on 01 March 2019

Role of Targeted Therapy in Dilated Cardiomyopathy: The Challenging Road Toward a Personalized Approach.

scientific article published in June 2019

Role of titin in cardiomyopathy: from DNA variants to patient stratification.

scientific article

Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies.

scientific article published on 6 January 2016

Sudden Death and Left Ventricular Involvement in Arrhythmogenic Cardiomyopathy

scientific article published on 01 April 2019

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

scientific article published on 23 October 2020

The Human Phenotype Ontology in 2024: phenotypes around the world

scientific article published in 2023

The effect of LRRK2 loss-of-function variants in humans

scientific article published on 27 May 2020

The mutational constraint spectrum quantified from variation in 141,456 humans

scientific article published on 27 May 2020

The yield of postmortem genetic testing in sudden death cases with structural findings at autopsy

scientific article published on 18 September 2019

Titin truncating mutations: A rare cause of dilated cardiomyopathy in the young

Titin-truncating variants affect heart function in disease cohorts and the general population.

scientific article

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

scientific article published on 16 January 2014

Towards clinical molecular diagnosis of inherited cardiac conditions: a comparison of bench-top genome DNA sequencers

scientific article

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

scientific article published on May 2017

Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic Architecture

scientific article published on 01 January 2019

Using high-resolution variant frequencies to empower clinical genome interpretation.

scientific article published on 18 May 2017

Utility of Post-Mortem Genetic Testing in Cases of Sudden Arrhythmic Death Syndrome

scientific article

Withdrawal of pharmacological treatment for heart failure in patients with recovered dilated cardiomyopathy (TRED-HF): an open-label, pilot, randomised trial

scientific article published in The Lancet

ZBTB17 ( MIZ1 ) Is Important for the Cardiac Stress Response and a Novel Candidate Gene for Cardiomyopathy and Heart Failure

article

Paulina is supported by:

About Paulina

Help