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Author Details

James S Ware
2011
121
41
PMIDPaper TitleJournal TitlePublished Year
37982373Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships-allelic requirement, inheritance modes, and disease mechanisms.Genet Med2024
37226762Left Ventricular Systolic Dysfunction in Patients Diagnosed With Hypertrophic Cardiomyopathy During Childhood: Insights From the SHaRe Registry.Circulation2023
36441169Importance of adopting standardized MANE transcripts in clinical reporting.Genet Med2023
37604819Environmental and genetic predictors of human cardiovascular ageing.2023
37652022The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings.Am J Hum Genet2023
37728026Phenotype, outcomes and natural history of early-stage non-ischaemic cardiomyopathy.Eur J Heart Fail2023
37901944[2023 ESC Guidelines for the management of cardiomyopathies].2023
37702310Assessing the association between genetic and phenotypic features of dilated cardiomyopathy and outcome in patients with coronary artery disease.2023
37872640Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.Genome Med2023
37285546DECIPHER: Improving Genetic Diagnosis Through Dynamic Integration of Genomic and Clinical Data.Annu Rev Genomics Hum Genet2023
37137668Identification of an increased lifetime risk of major adverse cardiovascular events in UK Biobank participants with scoliosis.2023
37195701Vigorous Exercise in Patients With Hypertrophic Cardiomyopathy.JAMA Cardiol2023
37066275Beyond gene-disease validity: capturing structured data on inheritance, allelic-requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.medRxiv2023
37066232Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms.medRxiv2023
37431535Ethnicity, consanguinity, and genetic architecture of hypertrophic cardiomyopathy.2023
35086919Direct and indirect effect of the COVID-19 pandemic on patients with cardiomyopathy.Open Heart2022
35845082Increasing Adiposity Is Associated With QTc Interval Prolongation and Increased Ventricular Arrhythmic Risk in the Context of Metabolic Dysfunction: Results From the UK Biobank.Frontiers in Cardiovascular Medicine2022
35654493Precision Phenotyping of Dilated Cardiomyopathy Using Multidimensional Data.J Am Coll Cardiol2022
35507016The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources.Genet Med2022
36154167Genetic Architecture of Acute Myocarditis and the Overlap With Inherited Cardiomyopathy.Circulation2022
35373836European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases.Europace2022
36277766The addition of genetic testing and cardiovascular magnetic resonance to routine clinical data for stratification of etiology in dilated cardiomyopathy.Frontiers in Cardiovascular Medicine2022
35936045European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases.J Arrhythm2022
35926050Pathogenic variants damage cell composition and single cell transcription in cardiomyopathies.Science2022
35922433Genome-wide associations of aortic distensibility suggest causality for aortic aneurysms and brain white matter hyperintensities.Nat Commun2022
34906520Correspondence on "ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)" by Miller et al.Genet Med2022
34906457Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD.Genet Med2022
34557911Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death.Eur Heart J2022
35027315Exposure to Elevated Nitrogen Dioxide Concentrations and Cardiac Remodeling in Patients With Dilated Cardiomyopathy.Journal of Cardiac Failure2022
34380661Moderate excess alcohol consumption and adverse cardiac remodelling in dilated cardiomyopathy.Heart2022
34373650Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans.Nature2021
33536625Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans.Nature2021
34230640Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes.Genet Med2021
33631351Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM): A Study from the ClinGen Cardiomyopathy Variant Curation Expert Panel.J Mol Diagn2021
33583186Titin Circular RNAs Create a Back-Splice Motif Essential for SRSF10 Splicing.Circulation2021
34274268Prognostic Significance of Nonischemic Myocardial Fibrosis in Patients With Normal LV Volumes and Ejection-Fraction.JACC Cardiovasc Imaging2021
34217276Increasing adiposity and the presence of cardiometabolic morbidity is associated with increased Covid-19-related mortality: results from the UK Biobank.BMC Endocrine Disorders2021
33782553Computational prediction of protein subdomain stability in MYBPC3 enables clinical risk stratification in hypertrophic cardiomyopathy and enhances variant interpretation.Genet Med2021
34153989Understanding the genetics of adult-onset dilated cardiomyopathy: what a clinician needs to know.Eur Heart J2021
33769460Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy.Eur Heart J2021
34194005Clinical impact of re-evaluating genes and variants implicated in dilated cardiomyopathy.Genet Med2021
33602406Late-Gadolinium Enhancement Interface Area and Electrophysiological Simulations Predict Arrhythmic Events in Patients With Nonischemic Dilated Cardiomyopathy.JACC: Clinical Electrophysiology2021
33500567Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies.Genet Med2021
33495596Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect.Nat Genet2021
33046849Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions.Genet Med2021
32926138Annotating high-impact 5'untranslated region variants with the UTRannotator.2021
33284039Associations Between Female Sex, Sarcomere Variants, and Clinical Outcomes in Hypertrophic Cardiomyopathy.Circ Genom Precis Med2021
34460321New Variant With a Previously Unrecognized Mechanism of Pathogenicity in Hypertrophic Cardiomyopathy.Circulation2021
34503678Phenotypic Expression and Outcomes in Individuals With Rare Genetic Variants of Hypertrophic Cardiomyopathy.Journal of the American College of Cardiology2021
34491319Worldwide differences in primary prevention implantable cardioverter defibrillator utilization and outcomes in hypertrophic cardiomyopathy.Eur Heart J2021
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