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。Impact of functional studies on exome sequence variant interpretation in early-onset cardiac conduction system diseases
Kenshi Hayashi et al.
CARDIOVASCULAR RESEARCH (2020)
European Society of Cardiology: Cardiovascular Disease Statistics 2019
Adam Timmis et al.
EUROPEAN HEART JOURNAL (2020)
Beneficial effect of ezetimibe-atorvastatin combination therapy in patients with a mutation in ABCG5 or ABCG8 gene
Hayato Tada et al.
LIPIDS IN HEALTH AND DISEASE (2020)
Ascertainment Bias in the Association Between Elevated Lipoprotein(a) and Familial Hypercholesterolemia
Mark Trinder et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2020)
Functional analysis of KCNH2 gene mutations of type 2 long QT syndrome in larval zebrafish using microscopy and electrocardiography
Yoshihiro Tanaka et al.
HEART AND VESSELS (2019)
Genetics of Common, Complex Coronary Artery Disease
Kiran Musunuru et al.
CELL (2019)
Heart Disease and Stroke Statistics-2019 Update A Report From the American Heart Association
Emelia J. Benjamin et al.
CIRCULATION (2019)
被撤回的出版物: Association of Genetic and Clinical Aspects of Congenital Long QT Syndrome With Life-Threatening Arrhythmias in Japanese Patients (Retracted article. See vol. 6, pg. 727, 2021)
Wataru Shimizu et al.
JAMA CARDIOLOGY (2019)
Rare and Deleterious Mutations in ABCG5/ABCG8 Genes Contribute to Mimicking and Worsening of Familial Hypercholesterolemia Phenotype
Hayato Tada et al.
CIRCULATION JOURNAL (2019)
Rare Protein-Truncating Variants in APOB, Lower Low-Density Lipoprotein Cholesterol, and Protection Against Coronary Heart Disease
Gina M. Peloso et al.
CIRCULATION-GENOMIC AND PRECISION MEDICINE (2019)
Towards Precision Medicine With Human iPSCs for Cardiac Channelopathies
Joseph C. Wu et al.
CIRCULATION RESEARCH (2019)
Update on long QT syndrome
Victor Neira et al.
JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY (2019)
20-Year Follow-up of Statins in Children with Familial Hypercholesterolemia
I. K. Luirink et al.
NEW ENGLAND JOURNAL OF MEDICINE (2019)
Arrhythmogenic Right Ventricular Cardiomyopathy: Progress Toward Personalized Management
Cynthia A. James et al.
ANNUAL REVIEW OF MEDICINE, VOL 70 (2019)
Whole-Genome Sequencing to Characterize Monogenic and Polygenic Contributions in Patients Hospitalized With Early-Onset Myocardial Infarction
Amit Khera et al.
CIRCULATION (2019)
Genetic and non-genetic determinants of clinical phenotypes in cardiomyopathy
Seitaro Nomura
JOURNAL OF CARDIOLOGY (2019)
Precision Medicine in the Management of Dilated Cardiomyopathy JACC State-of-the-Art Review
Diane Fatkin et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2019)
Sitosterolemia, Hypercholesterolemia, and Coronary Artery Disease
Hayato Tada et al.
JOURNAL OF ATHEROSCLEROSIS AND THROMBOSIS (2018)
Oligogenic familial hypercholesterolemia, LDL cholesterol, and coronary artery disease
Hayato Tada et al.
JOURNAL OF CLINICAL LIPIDOLOGY (2018)
Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations
Amit V. Khera et al.
NATURE GENETICS (2018)
Clinical Course and Management of Hypertrophic Cardiomyopathy
Barry J. Maron
NEW ENGLAND JOURNAL OF MEDICINE (2018)
Association of Interleukin 6 Receptor Variant With Cardiovascular Disease Effects of Interleukin 6 Receptor Blocking Therapy A Phenome-Wide Association Study
Tianxi Cai et al.
JAMA CARDIOLOGY (2018)
Association Between Titin Loss-of-Function Variants and Early-Onset Atrial Fibrillation
Seung Hoan Choi et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2018)
Alirocumab and Cardiovascular Outcomes after Acute Coronary Syndrome
G. G. Schwartz et al.
NEW ENGLAND JOURNAL OF MEDICINE (2018)
Impact of genetic testing on low-density lipoprotein cholesterol in patients with familial hypercholesterolemia (GenTLe-FH): a randomised waiting list controlled open-label study protocol
Akihiro Nomura et al.
BMJ OPEN (2018)
Impact of clinical signs and genetic diagnosis of familial hypercholesterolaemia on the prevalence of coronary artery disease in patients with severe hypercholesterolaemia
Hayato Tada et al.
EUROPEAN HEART JOURNAL (2017)
Half a Century Tales of Familial Hypercholesterolemia (FH) in Japan
Hiroshi Mabuchi
JOURNAL OF ATHEROSCLEROSIS AND THROMBOSIS (2017)
Comprehensive genotyping in dyslipidemia: mendelian dyslipidemias caused by rare variants and Mendelian randomization studies using common variants
Hayato Tada et al.
JOURNAL OF HUMAN GENETICS (2017)
ANGPTL3 Deficiency and Protection Against Coronary Artery Disease
Nathan O. Stitziel et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2017)
Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity
Danish Saleheen et al.
NATURE (2017)
Association analyses based on false discovery rate implicate new loci for coronary artery disease
Christopher P. Nelson et al.
NATURE GENETICS (2017)
Effectiveness of beta-blockers depending on the genotype of congenital long-QT syndrome: A meta-analysis
Jinhee Ahn et al.
PLOS ONE (2017)
Long-term treatment with evolocumab added to conventional drug therapy, with or without apheresis, in patients with homozygous familial hypercholesterolaemia: an interim subset analysis of the open-label TAUSSIG study
Frederick J. Raal et al.
LANCET DIABETES & ENDOCRINOLOGY (2017)
Cascade screening for familial hypercholesterolemia: Practical consequences
Leonora Louter et al.
ATHEROSCLEROSIS SUPPLEMENTS (2017)
Hypertrophic Cardiomyopathy Genetics, Pathogenesis, Clinical Manifestations, Diagnosis, and Therapy
Ali J. Marian et al.
CIRCULATION RESEARCH (2017)
Protein-Truncating Variants at the Cholesteryl Ester Transfer Protein Gene and Risk for Coronary Heart Disease
Akihiro Nomura et al.
CIRCULATION RESEARCH (2017)
The genetics underlying acquired long QT syndrome: impact for genetic screening
Hideki Itoh et al.
EUROPEAN HEART JOURNAL (2016)
Risk prediction by genetic risk scores for coronary heart disease is independent of self-reported family history
Hayato Tada et al.
EUROPEAN HEART JOURNAL (2016)
Genetics of Coronary Artery Disease
Ruth McPherson et al.
CIRCULATION RESEARCH (2016)
Phenotypic Characterization of Genetically Lowered Human Lipoprotein(a) Levels
Connor A. Emdin et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2016)
Clinical and Mechanistic Insights Into the Genetics of Cardiomyopathy
Michael A. Burke et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2016)
Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia
Amit V. Khera et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2016)
Analysis of protein-coding genetic variation in 60,706 humans
Monkol Lek et al.
NATURE (2016)
Variant ASGR1 Associated with a Reduced Risk of Coronary Artery Disease
P. Nioi et al.
NEW ENGLAND JOURNAL OF MEDICINE (2016)
Genetic Risk, Adherence to a Healthy Lifestyle, and Coronary Disease
Amit V. Khera et al.
NEW ENGLAND JOURNAL OF MEDICINE (2016)
Inactivating Variants in ANGPTL4 and Risk of Coronary Artery Disease
Frederick F. Dewey et al.
NEW ENGLAND JOURNAL OF MEDICINE (2016)
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)
Genetic risk, coronary heart disease events, and the clinical benefit of statin therapy: an analysis of primary and secondary prevention trials
Jessica L. Mega et al.
LANCET (2015)
Ezetimibe Added to Statin Therapy after Acute Coronary Syndromes
Christopher P. Cannon et al.
NEW ENGLAND JOURNAL OF MEDICINE (2015)
Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction
Ron Do et al.
NATURE (2015)
Compound heterozygosity deteriorates phenotypes of hypertrophic cardiomyopathy with founder MYBPC3 mutation: evidence from patients and zebrafish models
Akihiko Hodatsu et al.
AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY (2014)
Personalized medicine to treat arrhythmias
Dan M. Roden
CURRENT OPINION IN PHARMACOLOGY (2014)
Myotonic dystrophy: time for evidence-based therapy
Perry Elliott
EUROPEAN HEART JOURNAL (2014)
Inactivating Mutations in NPC1L1 and Protection from Coronary Heart Disease
Nathan O. Stitziel et al.
NEW ENGLAND JOURNAL OF MEDICINE (2014)
Loss-of-Function Mutations in APOC3, Triglycerides, and Coronary Disease
Jacy Crosby et al.
NEW ENGLAND JOURNAL OF MEDICINE (2014)
Searching for missing heritability: Designing rare variant association studies
Or Zuk et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2014)
Genotype-Specific Risk Stratification and Management of Patients with Long QT Syndrome
Alon Barsheshet et al.
ANNALS OF NONINVASIVE ELECTROCARDIOLOGY (2013)
Effect of the Proprotein Convertase Subtilisin/Kexin 9 Monoclonal Antibody, AMG 145, in Homozygous Familial Hypercholesterolemia
Evan A. Stein et al.
CIRCULATION (2013)
Impact of Systolic Dysfunction in Genotyped Hypertrophic Cardiomyopathy
Noboru Fujino et al.
CLINICAL CARDIOLOGY (2013)
Impact of Genetics on the Clinical Management of Channelopathies
Peter J. Schwartz et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2013)
Sarcomere Gene Mutations Are Associated With Increased Cardiovascular Events in Left Ventricular Hypertrophy
Takashi Fujita et al.
JACC-HEART FAILURE (2013)
Comparison of Novel Risk Markers for Improvement in Cardiovascular Risk Assessment in Intermediate-Risk Individuals
Joseph Yeboah et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2012)
The mystery of missing heritability: Genetic interactions create phantom heritability
Or Zuk et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2012)
Molecular genetic epidemiology of homozygous familial hypercholesterolemia in the Hokuriku district of Japan
Hiroshi Mabuchi et al.
ATHEROSCLEROSIS (2011)
Narrative Review: Harnessing Molecular Genetics for the Diagnosis and Management of Hypertrophic Cardiomyopathy
Libin Wang et al.
ANNALS OF INTERNAL MEDICINE (2010)
Genetics of hypertrophic cardiomyopathy
Tetsuo Konno et al.
CURRENT OPINION IN CARDIOLOGY (2010)
Risk factors for aborted cardiac arrest and sudden cardiac death in children with the congenital long-QT syndrome
Ilan Goldenberg et al.
CIRCULATION (2008)
Mutations in the genes for sarcomeric proteins in Japanese patients with onset sporadic hypertrophic cardiomyopathy after age 40 years
Ryuichiro Anan et al.
AMERICAN JOURNAL OF CARDIOLOGY (2007)
Sequence variations in PCSK9, low LDL, and protection against coronary heart disease
JC Cohen et al.
NEW ENGLAND JOURNAL OF MEDICINE (2006)
Effect of clinical phenotype on yield of long QT syndrome genetic testing
DJ Tester et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2006)
Risk stratification in the long-QT syndrome
SG Priori et al.
NEW ENGLAND JOURNAL OF MEDICINE (2003)
A novel missense mutation in the myosin binding protein-c gene is responsible for hypertrophic cardiomyopathy with left ventricular dysfunction-and dilation in elderly patients
T Konno et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2003)