相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Genetic testing impacts the utility of prospective familial screening in hypertrophic cardiomyopathy through identification of a nonfamilial subgroup
Carol Ko et al.
GENETICS IN MEDICINE (2018)
CardioClassifier: disease- and gene-specific computational decision support for clinical genome interpretation
Nicola Whiffin et al.
GENETICS IN MEDICINE (2018)
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples
Roddy Walsh et al.
GENETICS IN MEDICINE (2017)
Attitudes, knowledge and consequences of uncertain genetic findings in hypertrophic cardiomyopathy
Charlotte Burns et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2017)
Using high-resolution variant frequencies to empower clinical genome interpretation
Nicola Whiffin et al.
GENETICS IN MEDICINE (2017)
Favourable effect of early versus late start of enzyme replacement therapy on plasma globotriaosylsphingosine levels in men with classical Fabry disease
Maarten Arends et al.
MOLECULAR GENETICS AND METABOLISM (2017)
Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy
Irene Mademont-Soler et al.
PLOS ONE (2017)
Nonfamilial Hypertrophic Cardiomyopathy Prevalence, Natural History, and Clinical Implications
Jodie Ingles et al.
CIRCULATION-CARDIOVASCULAR GENETICS (2017)
InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines
Quan Li et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2017)
Analysis of protein-coding genetic variation in 60,706 humans
Monkol Lek et al.
NATURE (2016)
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity
Ahmed A. Alfares et al.
GENETICS IN MEDICINE (2015)
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards et al.
GENETICS IN MEDICINE (2015)
ClinGen - The Clinical Genome Resource
Heidi L. Rehm et al.
NEW ENGLAND JOURNAL OF MEDICINE (2015)
Novel α-Actinin 2 Variant Associated With Familial Hypertrophic Cardiomyopathy and Juvenile Atrial Arrhythmias A Massively Parallel Sequencing Study
Francesca Girolami et al.
CIRCULATION-CARDIOVASCULAR GENETICS (2014)
Myotonic dystrophy: time for evidence-based therapy
Perry Elliott
EUROPEAN HEART JOURNAL (2014)
Yield of Molecular and Clinical Testing for Arrhythmia Syndromes Report of 15 Years' Experience
Nynke Hofman et al.
CIRCULATION (2013)
Diagnostic work-up in cardiomyopathies: bridging the gap between clinical phenotypes and final diagnosis. A position statement from the ESC Working Group on Myocardial and Pericardial Diseases
Claudio Rapezzi et al.
EUROPEAN HEART JOURNAL (2013)
Targeted Next-Generation Sequencing can Replace Sanger Sequencing in Clinical Diagnostics
Birgit Sikkema-Raddatz et al.
HUMAN MUTATION (2013)
Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing
Luis R. Lopes et al.
JOURNAL OF MEDICAL GENETICS (2013)
Mimics of Hypertrophic Cardiomyopathy - Diagnostic Clues to Aid Early Identification of Phenocopies
Rajiv Sankaranarayanan et al.
ARRHYTHMIA & ELECTROPHYSIOLOGY REVIEW (2013)
Genetics of inherited cardiomyopathy
Daniel Jacoby et al.
EUROPEAN HEART JOURNAL (2012)
Genetics of Hypertrophic Cardiomyopathy After 20 Years Clinical Perspectives
Barry J. Maron et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2012)
Hypertrophic Cardiomyopathy
Carolyn Y. Ho
Heart Failure Clinics (2010)
Clinical Outcome and Phenotypic Expression in LAMP2 Cardiomyopathy
Barry J. Maron et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2009)
Hypertrophic cardiomyopathy - Distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy
P Richard et al.
CIRCULATION (2003)
分享论文
