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。Sudden cardiac death-update
P. Markwerth et al.
INTERNATIONAL JOURNAL OF LEGAL MEDICINE (2021)
Gene Environment Interactions in the Etiology of Neural Tube Defects
Richard H. Finnell et al.
FRONTIERS IN GENETICS (2021)
Genetics of dilated cardiomyopathy: practical implications for heart failure management
Andrew N. Rosenbaum et al.
NATURE REVIEWS CARDIOLOGY (2020)
Development and validation of next generation sequencing based 35-gene hereditary cancer panel
Chan Wing et al.
HEREDITARY CANCER IN CLINICAL PRACTICE (2020)
Genetics of Common, Complex Coronary Artery Disease
Kiran Musunuru et al.
CELL (2019)
Update on the Genetic Basis of Sudden Unexpected Death in Epilepsy
Monica Coll et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2019)
Clinical utility of custom-designed NGS panel testing in pediatric tumors
Lea F. Surrey et al.
GENOME MEDICINE (2019)
Comprehensive Analysis of Rare Variants of 101 Autism-Linked Genes in a Hungarian Cohort of Autism Spectrum Disorder Patients
Peter Balicza et al.
FRONTIERS IN GENETICS (2019)
Recent Advances in Basic Research for Brain Arteriovenous Malformation
Leandro Barbosa Do Prado et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2019)
Genetics and genomics of pulmonary arterial hypertension
Nicholas W. Morrell et al.
EUROPEAN RESPIRATORY JOURNAL (2019)
Sudden unexpected death in epilepsy: The neuro-cardio-respiratory connection
Theodora A. Manolis et al.
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY (2019)
Prognostic classification of endometrial cancer using a molecular approach based on a twelve-gene NGS panel
Raquel Lopez-Reig et al.
SCIENTIFIC REPORTS (2019)
A Novel and Reliable Method to Detect Microsatellite Instability in Colorectal Cancer by Next-Generation Sequencing
Lizhen Zhu et al.
JOURNAL OF MOLECULAR DIAGNOSTICS (2018)
Identification of rare sequence variation underlying heritable pulmonary arterial hypertension
Stefan Graf et al.
NATURE COMMUNICATIONS (2018)
Heterogeneity in clinical sequencing tests marketed for autism spectrum disorders
Ny Hoang et al.
NPJ GENOMIC MEDICINE (2018)
A NGS-Targeted Autism/ID Panel Reveals Compound Heterozygous GNB5 Variants in a Novel Patient
Natascia Malerba et al.
FRONTIERS IN GENETICS (2018)
The genetics of congenital central hypoventilation syndrome: clinical implications
John Bishara et al.
APPLICATION OF CLINICAL GENETICS (2018)
Association of Rare and Common Variation in the Lipoprotein Lipase Gene With Coronary Artery Disease
Amit V. Khera et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2017)
Genetic analysis in UK Biobank links insulin resistance and transendothelial migration pathways to coronary artery disease
Derek Klarin et al.
NATURE GENETICS (2017)
Arrhythmogenic Right Ventricular Cardiomyopathy
Domenico Corrado et al.
NEW ENGLAND JOURNAL OF MEDICINE (2017)
Hypertrophic Cardiomyopathy Genetics, Pathogenesis, Clinical Manifestations, Diagnosis, and Therapy
Ali J. Marian et al.
CIRCULATION RESEARCH (2017)
Restrictive Cardiomyopathy Genetics, Pathogenesis, Clinical Manifestations, Diagnosis, and Therapy
Eli Muchtar et al.
CIRCULATION RESEARCH (2017)
Molecular genetics and pathogenesis of cardiomyopathy
Akinori Kimura
JOURNAL OF HUMAN GENETICS (2016)
Sensitivity of BRCA1/2 testing in high-risk breast/ovarian/male breast cancer families: little contribution of comprehensive RNA/NGS panel testing
Helen Byers et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2016)
Phenotypic Characterization of Genetically Lowered Human Lipoprotein(a) Levels
Connor A. Emdin et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2016)
Variant ASGR1 Associated with a Reduced Risk of Coronary Artery Disease
P. Nioi et al.
NEW ENGLAND JOURNAL OF MEDICINE (2016)
Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease
Nathan O. Stitziel et al.
NEW ENGLAND JOURNAL OF MEDICINE (2016)
Genetics of Sudden Cardiac Death
Connie R. Bezzina et al.
CIRCULATION RESEARCH (2015)
Clinical Presentation, Long-Term Follow-Up, and Outcomes of 1001 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patients and Family Members
Judith A. Groeneweg et al.
CIRCULATION-CARDIOVASCULAR GENETICS (2015)
Risk factors and causes of sudden noncardiac death: A nationwide cohort study in Denmark
Bjarke Risgaard et al.
HEART RHYTHM (2015)
The ARVD/C Genetic Variants Database: 2014 Update
Elisabetta Lazzarini et al.
HUMAN MUTATION (2015)
A comprehensive 1000 Genomes-based genome-wide association meta-analysis of coronary artery disease
Majid Nikpay et al.
NATURE GENETICS (2015)
The Amyloidogenic V122I Transthyretin Variant in Elderly Black Americans
C. Cristina Quarta et al.
NEW ENGLAND JOURNAL OF MEDICINE (2015)
Sudden death in young persons with uncontrolled asthma - a nationwide cohort study in Denmark
Anders Juul Gullach et al.
BMC PULMONARY MEDICINE (2015)
Disproportionate Contributions of Select Genomic Compartments and Cell Types to Genetic Risk for Coronary Artery Disease
Hong-Hee Won et al.
PLOS GENETICS (2015)
Clinical Presentation, Long-Term Follow-Up, and Outcomes of 1001 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patients and Family Members
Judith A. Groeneweg et al.
CIRCULATION-CARDIOVASCULAR GENETICS (2015)
Application of Next Generation Sequencing for personalized medicine for sudden cardiac death
Elena Morini et al.
FRONTIERS IN GENETICS (2015)
Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy
Costin Leu et al.
EBIOMEDICINE (2015)
Next-Generation Sequencing in Clinical Molecular Diagnostics of Cancer: Advantages and Challenges
Rajyalakshmi Luthra et al.
CANCERS (2015)
Atlas of the clinical genetics of human dilated cardiomyopathy
Jan Haas et al.
EUROPEAN HEART JOURNAL (2015)
Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction
Ron Do et al.
NATURE (2015)
The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing
Trevor J. Pugh et al.
GENETICS IN MEDICINE (2014)
Prevalence and significance of rare RYR2 variants in arrhythmogenic right ventricular cardiomyopathy/dysplasia: Results of a systematic screening
Nathalie Roux-Buisson et al.
HEART RHYTHM (2014)
Loss-of-Function Mutations in APOC3, Triglycerides, and Coronary Disease
Jacy Crosby et al.
NEW ENGLAND JOURNAL OF MEDICINE (2014)
Desmin Mutations and Arrhythmogenic Right Ventricular Cardiomyopathy
Alessandra Lorenzon et al.
AMERICAN JOURNAL OF CARDIOLOGY (2013)
Genetic Cardiomyopathies Causing Heart Failure
Thomas J. Cahill et al.
CIRCULATION RESEARCH (2013)
Correlation of Ventricular Arrhythmias With Genotype in Arrhythmogenic Right Ventricular Cardiomyopathy
Jingru Bao et al.
CIRCULATION-CARDIOVASCULAR GENETICS (2013)
Mutations in the area composita protein T-catenin are associated with arrhythmogenic right ventricular cardiomyopathy
Jolanda van Hengel et al.
EUROPEAN HEART JOURNAL (2013)
HRS/EHRA/APHRS Expert Consensus Statement on the Diagnosis and Management of Patients with Inherited Primary Arrhythmia Syndromes
Silvia G. Priori et al.
HEART RHYTHM (2013)
TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension
Wilhelmina S. Kerstjens-Frederikse et al.
JOURNAL OF MEDICAL GENETICS (2013)
Dilated cardiomyopathy: the complexity of a diverse genetic architecture
Ray E. Hershberger et al.
NATURE REVIEWS CARDIOLOGY (2013)
KCNJ2 mutation in short QT syndrome 3 results in atrial fibrillation and ventricular proarrhythmia
Makarand Deo et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)
Human Molecular Genetic and Functional Studies Identify TRIM63, Encoding Muscle RING Finger Protein 1, as a Novel Gene for Human Hypertrophic Cardiomyopathy
Suet Nee Chen et al.
CIRCULATION RESEARCH (2012)
Mutations in the Lamin A/C gene mimic arrhythmogenic right ventricular cardiomyopathy
Giovanni Quarta et al.
EUROPEAN HEART JOURNAL (2012)
Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy
Paul A. van der Zwaag et al.
EUROPEAN JOURNAL OF HEART FAILURE (2012)
Evidence for FHL1 as a novel disease gene for isolated hypertrophic cardiomyopathy
Felix W. Friedrich et al.
HUMAN MOLECULAR GENETICS (2012)
Hyperinsulinaemic hypoglycaemia: genetic mechanisms, diagnosis and management
Senthil Senniappan et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2012)
Geographical distribution of plakophilin-2 mutation prevalence in patients with arrhythmogenic cardiomyopathy
K. A. Jacob et al.
NETHERLANDS HEART JOURNAL (2012)
Genetic Variation in Titin in Arrhythmogenic Right Ventricular Cardiomyopathy-Overlap Syndromes
Matthew Taylor et al.
CIRCULATION (2011)
Molecular genetic characterization of SMAD signaling molecules in pulmonary arterial hypertension
Md. Talat Nasim et al.
HUMAN MUTATION (2011)
Update 2011: Clinical and Genetic Issues in Familial Dilated Cardiomyopathy
Ray E. Hershberger et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2011)
Sudden unexpected death in epilepsy
Simon Shorvon et al.
LANCET (2011)
Future medical applications of single-cell sequencing in cancer
Nicholas Navin et al.
GENOME MEDICINE (2011)
Hypertrophic cardiomyopathy: from genetics to treatment
Ali J. Marian
EUROPEAN JOURNAL OF CLINICAL INVESTIGATION (2010)
Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy
Gilles Millat et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2010)
Desmin mutations as a cause of right ventricular heart failure affect the intercalated disks
Ellen Otten et al.
HEART RHYTHM (2010)
NOS1AP Is a Genetic Modifier of the Long-QT Syndrome
Lia Crotti et al.
CIRCULATION (2009)
A new nonsense mutation of SMAD8 associated with pulmonary arterial hypertension
M. Shintani et al.
JOURNAL OF MEDICAL GENETICS (2009)
Beyond the sarcomere:: CSRP3 mutations cause hypertrophic cardiomyopathy
Christian Geier et al.
HUMAN MOLECULAR GENETICS (2008)
Cardiac arrhythmias and sudden death in infancy: implication for the medicolegal investigation
Horst Wedekind et al.
INTERNATIONAL JOURNAL OF LEGAL MEDICINE (2007)
Genome-wide search for sarcoidosis susceptibility genes in African Americans
MC Iannuzzi et al.
GENES AND IMMUNITY (2005)
A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene
SG Priori et al.
CIRCULATION RESEARCH (2005)
Regulatory mutations in transforming growth factor-β3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1
G Beffagna et al.
CARDIOVASCULAR RESEARCH (2005)
Sudden death associated with short-QT syndrome linked to mutations in HERG
R Brugada et al.
CIRCULATION (2004)
Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy
T Hayashi et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2004)
Prevalence of idiopathic hypertrophic cardiomyopathy in China: A population-based echocardiographic analysis of 8080 adults
YB Zou et al.
AMERICAN JOURNAL OF MEDICINE (2004)
Mutation in the KCNQ1 gene leading to the short QT-interval syndrome
C Bellocq et al.
CIRCULATION (2004)
Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy
J Erdmann et al.
CLINICAL GENETICS (2003)
Hypertrophic cardiomyopathy - Distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy
P Richard et al.
CIRCULATION (2003)
Burden of systolic and diastolic ventricular dysfunction in the community - Appreciating the scope of the heart failure epidemic
MM Redfield et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2003)
A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel
H Lahat et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia
PJ Laitinen et al.
CIRCULATION (2001)
分享论文
