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GENETICS IN MEDICINE (2021)
Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome
Najim Lahrouchi et al.
CIRCULATION (2020)
Corrected QT Interval-Polygenic Risk Score and Its Contribution to Type 1, Type 2, and Type 3 Long-QT Syndrome in Probands and Genotype-Positive Family Members
Kari L. Turkowski et al.
CIRCULATION-GENOMIC AND PRECISION MEDICINE (2020)
Medically actionable pathogenic variants in a population of 13,131 healthy elderly individuals
Paul Lacaze et al.
GENETICS IN MEDICINE (2020)
High-throughput discovery of trafficking-deficient variants in the cardiac potassium channel KV11.1
Krystian A. Kozek et al.
HEART RHYTHM (2020)
A Bayesian method to estimate variant-induced disease penetrance
Brett M. Kroncke et al.
PLOS GENETICS (2020)
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting
Caroline F. Wright et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2019)
Protein structure aids predicting functional perturbation of missense variants in SCN5A and KCNQ1
Brett M. Kroncke et al.
COMPUTATIONAL AND STRUCTURAL BIOTECHNOLOGY JOURNAL (2019)
Classification and Reporting of Potentially Proarrhythmic Common Genetic Variation in Long QT Syndrome Genetic Testing
John R. Giudicessi et al.
CIRCULATION (2018)
Reappraisal of Reported Genes for Sudden Arrhythmic Death: Evidence-Based Evaluation of Gene Validity for Brugada Syndrome
S. Mohsen Hosseini et al.
CIRCULATION (2018)
Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework
Sean V. Tavtigian et al.
GENETICS IN MEDICINE (2018)
Long QT syndrome type 5-Lite: Defining the clinical phenotype associated with the potentially proarrhythmic p.Asp85Asn-KCNE1 common genetic variant
Conor M. Lane et al.
HEART RHYTHM (2018)
Modified penetrance of coding variants by cis-regulatory variation contributes to disease risk
Stephane E. Castel et al.
NATURE GENETICS (2018)
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples
Roddy Walsh et al.
GENETICS IN MEDICINE (2017)
MOLECULAR PATHOPHYSIOLOGY OF CONGENITAL LONG QT SYNDROME
M. S. Bohnen et al.
PHYSIOLOGICAL REVIEWS (2017)
Cryo-EM Structure of the Open Human Ether-a-go-go-Related K+ Channel hERG
Weiwei Wang et al.
CELL (2017)
REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants
Nilah M. Ioannidis et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2016)
Association of the hERG mutation with long-QT syndrome type 2, syncope and epilepsy
Guoliang Li et al.
MOLECULAR MEDICINE REPORTS (2016)
Analysis of protein-coding genetic variation in 60,706 humans
Monkol Lek et al.
NATURE (2016)
Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR Study
Frederick E. Dewey et al.
SCIENCE (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)
Ascertainment Bias Causes False Signal of Anticipation in Genetic Prion Disease
Eric Vallabh Minikel et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2014)
Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2
Michael Christiansen et al.
BMC MEDICAL GENETICS (2014)
Re-trafficking of hERG reverses long QT syndrome 2 phenotype in human iPS-derived cardiomyocytes
Ashish Mehta et al.
CARDIOVASCULAR RESEARCH (2014)
The variant hERG/R148W associated with LQTS is a mutation that reduces current density on co-expression with the WT
Asma Mechakra et al.
GENE (2014)
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)
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease
David N. Cooper et al.
HUMAN GENETICS (2013)
Model for long QT syndrome type 2 using human iPS cells demonstrates arrhythmogenic characteristics in cell culture
Anna L. Lahti et al.
DISEASE MODELS & MECHANISMS (2012)
Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes
Jacob A. Tennessen et al.
SCIENCE (2012)
Risk for Life-Threatening Cardiac Events in Patients With Genotype-Confirmed Long-QT Syndrome and Normal-Range Corrected QT Intervals
Ilan Goldenberg et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2011)
Genetic Heterogeneity in Human Disease
Jon McClellan et al.
CELL (2010)
High prevalence of four long QT syndrome founder mutations in the Finnish population
Annukka Marjamaa et al.
ANNALS OF MEDICINE (2009)
Genotype-Phenotype Aspects of Type 2 Long QT Syndrome
Wataru Shimizu et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2009)
Human ether-a-go-go related gene (hERG) K+ channels: Function and dysfunction
Mark J. Perrin et al.
PROGRESS IN BIOPHYSICS & MOLECULAR BIOLOGY (2008)
A single hERG mutation underlying a spectrum of acquired and congenital long QT syndrome phenotypes
J. B. Saenen et al.
JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY (2007)
Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome
G. Millat et al.
CLINICAL GENETICS (2006)
Molecular characterization of two founder mutations causing long QT syndrome and identification of compound heterozygous patients
H Fodstad et al.
ANNALS OF MEDICINE (2006)
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing
DJ Tester et al.
HEART RHYTHM (2005)
Four potassium channel mutations account for 73% of the genetic spectrum underlying long-QT syndrome (LQTS) and provide evidence for a strong founder effect in Finland
H Fodstad et al.
ANNALS OF MEDICINE (2004)
Beyond Mendel: An evolving view of human genetic disease transmission
JL Badano et al.
NATURE REVIEWS GENETICS (2002)
Analysis of the cyclic nucleotide binding domain of the HERG potassium channel and interactions with KCNE2
J Cui et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2001)