Prevalence of TTR variants detected by whole-exome sequencing in hypertrophic cardiomyopathy

Analysis of the TTR gene in the investigation of amyloidosis: A 25-year single UK center experience

(2018) Dorota Rowczenio et al.   HUMAN MUTATION

Magnetic Resonance in Transthyretin Cardiac Amyloidosis

(2017) Ana Martinez-Naharro et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Occult Transthyretin Cardiac Amyloid in Severe Calcific Aortic StenosisCLINICAL PERSPECTIVE

(2016) Thomas A. Treibel et al.   Circulation-Cardiovascular Imaging

Afro-Caribbean Heart Failure in the United KingdomCLINICAL PERSPECTIVE

(2016) Jason N. Dungu et al.   Circulation-Heart Failure

Relationship between aetiology and left ventricular systolic dysfunction in hypertrophic cardiomyopathy

(2016) Stefania Rosmini et al.   HEART

Genotype and Phenotype of Transthyretin Cardiac Amyloidosis

(2016) Mathew S. Maurer et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

The ExAC browser: displaying reference data information from over 60 000 exomes

(2016) Konrad J. Karczewski et al.   NUCLEIC ACIDS RESEARCH

Wild-type transthyretin amyloidosis as a cause of heart failure with preserved ejection fraction

(2015) Esther González-López et al.   EUROPEAN HEART JOURNAL

Prevalence and clinical phenotype of hereditary transthyretin amyloid cardiomyopathy in patients with increased left ventricular wall thickness

(2015) Thibaud Damy et al.   EUROPEAN HEART JOURNAL

The Amyloidogenic V122I Transthyretin Variant in Elderly Black Americans

(2015) C. Cristina Quarta et al.   NEW ENGLAND JOURNAL OF MEDICINE

ClinVar: public archive of interpretations of clinically relevant variants

(2015) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy

(2014)   EUROPEAN HEART JOURNAL

A novel clinical risk prediction model for sudden cardiac death in hypertrophic cardiomyopathy (HCM Risk-SCD)

(2013) C. O'Mahony et al.   EUROPEAN HEART JOURNAL

A robust model for read count data in exome sequencing experiments and implications for copy number variant calling

(2012) Vincent Plagnol et al.   BIOINFORMATICS

Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective

(2012) C. Rapezzi et al.   EUROPEAN HEART JOURNAL

A SIMPLE VOLTAGE/MASS INDEX IMPROVES DIAGNOSIS OF CARDIAC AMYLOIDOSIS: AN ELECTROCARDIOGRAPHIC AND ECHOCARDIOGRAPHIC STUDY OF 570 PATIENTS WITH LEFT VENTRICULAR HYPERTROPHY

(2012) Candida Cristina Quarta et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Role of 99mTc-DPD Scintigraphy in Diagnosis and Prognosis of Hereditary Transthyretin-Related Cardiac Amyloidosis

(2011) Claudio Rapezzi et al.   JACC-Cardiovascular Imaging

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

(2010) William McLaren et al.   BIOINFORMATICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH