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。Minor hypertrophic cardiomyopathy genes, major insights into the genetics of cardiomyopathies
Roddy Walsh et al.
NATURE REVIEWS CARDIOLOGY (2022)
Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity
Andrew R. Harper et al.
NATURE GENETICS (2021)
Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect
Rafik Tadros et al.
NATURE GENETICS (2021)
Adiponectin receptor 1 variants contribute to hypertrophic cardiomyopathy that can be reversed by rapamycin
Perundurai S. Dhandapany et al.
SCIENCE ADVANCES (2021)
Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy
Juha W. Koskenvuo et al.
PLOS ONE (2021)
Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)
Erin Rooney Riggs et al.
GENETICS IN MEDICINE (2020)
A Validated Model for Sudden Cardiac Death Risk Prediction in Pediatric Hypertrophic Cardiomyopathy
Anastasia Miron et al.
CIRCULATION (2020)
The role of genetics in cardiovascular disease: arrhythmogenic cardiomyopathy
Cynthia A. James et al.
EUROPEAN HEART JOURNAL (2020)
When genetic burden reaches threshold
Roddy Walsh et al.
EUROPEAN HEART JOURNAL (2020)
Genetic Dissection of Hypertrophic Cardiomyopathy with Myocardial RNA-Seq
Jun Gao et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2020)
The mutational constraint spectrum quantified from variation in 141,456 humans
Konrad J. Karczewski et al.
NATURE (2020)
Variant Interpretation for Dilated Cardiomyopathy Refinement of the American College of Medical Genetics and Genomics/ClinGen Guidelines for the DCM Precision Medicine Study
Ana Morales et al.
CIRCULATION-GENOMIC AND PRECISION MEDICINE (2020)
Reevaluation of the South AsianMYBPC3Δ25bpIntronic Deletion in Hypertrophic Cardiomyopathy
Andrew R. Harper et al.
CIRCULATION-GENOMIC AND PRECISION MEDICINE (2020)
Genome-wide detection of tandem DNA repeats that are expanded in autism
Brett Trost et al.
NATURE (2020)
Genomic analyses implicate noncoding de novo variants in congenital heart disease
Felix Richter et al.
NATURE GENETICS (2020)
Somalier: rapid relatedness estimation for cancer and germline studies using efficient genome sketches
Brent S. Pedersen et al.
GENOME MEDICINE (2020)
Clinical Profile of Cardiac Involvement in Danon Disease A Multicenter European Registry
Dor Lotan et al.
CIRCULATION-GENOMIC AND PRECISION MEDICINE (2020)
Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy
Andre E. Minoche et al.
GENETICS IN MEDICINE (2019)
High-throughput functional analysis of lncRNA core promoters elucidates rules governing tissue specificity
Kaia Mattioli et al.
GENOME RESEARCH (2019)
Revisiting Genome Sequencing Data in Light of Novel Disease Gene Associations
Christopher Semsarian et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2019)
g:Profiler: a web server for functional enrichment analysis and conversions of gene lists (2019 update)
Uku Raudvere et al.
NUCLEIC ACIDS RESEARCH (2019)
Multiple SCN5A variant enhancers modulate its cardiac gene expression and the QT interval
Ashish Kapoor et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2019)
Functionalization of CD36 Cardiovascular Disease and Expression Associated Variants by Interdisciplinary High Throughput Analysis
Namrata Madan et al.
PLOS GENETICS (2019)
Return of genetic and genomic research findings: experience of a pediatric biorepository
Tanya Papaz et al.
BMC MEDICAL GENOMICS (2019)
Predicting Splicing from Primary Sequence with Deep Learning
Kishore Jaganathan et al.
CELL (2019)
Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease
Andrew M. Gross et al.
GENETICS IN MEDICINE (2019)
OMIM.org: leveraging knowledge across phenotype-gene relationships
Joanna S. Amberger et al.
NUCLEIC ACIDS RESEARCH (2019)
The Gene Ontology Resource: 20 years and still GOing strong
S. Carbon et al.
NUCLEIC ACIDS RESEARCH (2019)
Elimination of fukutin reveals cellular and molecular pathomechanisms in muscular dystrophy-associated heart failure
Yoshihiro Ujihara et al.
NATURE COMMUNICATIONS (2019)
Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation
Matthew R. Hildebrandt et al.
STEM CELL REPORTS (2019)
MPRAnalyze: statistical framework for massively parallel reporter assays
Tal Ashuach et al.
GENOME BIOLOGY (2019)
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test
Anath C. Lionel et al.
GENETICS IN MEDICINE (2018)
A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data
Brett Trost et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2018)
A Rapid Method for Directed Gene Knockout for Screening in G0 Zebrafish
Roland S. Wu et al.
DEVELOPMENTAL CELL (2018)
Whole Genome Sequencing Improves Outcomes of Genetic Testing in Patients With Hypertrophic Cardiomyopathy
Richard D. Bagnall et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2018)
Interaction between cardiac myosin-binding protein C and formin Fhod3
Sho Matsuyama et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2018)
Global Burden of Hypertrophic Cardiomyopathy
Barry J. Maron et al.
JACC-HEART FAILURE (2018)
Formin Homology 2 Domain Containing 3 (FHOD3) Is a Genetic Basis for Hypertrophic Cardiomyopathy
Juan Pablo Ochoa et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2018)
Mosdepth: quick coverage calculation for genomes and exomes
Brent S. Pedersen et al.
BIOINFORMATICS (2018)
Utility of genetics for risk stratification in pediatric hypertrophic cardiomyopathy
J. Mathew et al.
CLINICAL GENETICS (2018)
Clinical genetic testing in pediatric cardiomyopathy: Is bigger better?
A. C. Ouellette et al.
CLINICAL GENETICS (2018)
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies
Peter D. Stenson et al.
HUMAN GENETICS (2017)
Estimating the selective effects of heterozygous protein-truncating variants from human exome data
Christopher A. Cassa et al.
NATURE GENETICS (2017)
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Ryan K. C. Yuen et al.
NATURE NEUROSCIENCE (2017)
Homozygous truncating mutation in NRAP gene identified by whole exome sequencing in a patient with dilated cardiomyopathy
Grazyna T. Truszkowska et al.
SCIENTIFIC REPORTS (2017)
Exome-wide association study reveals novel susceptibility genes to sporadic dilated cardiomyopathy
Ulrike Esslinger et al.
PLOS ONE (2017)
InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines
Quan Li et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2017)
ClinVar: public archive of interpretations of clinically relevant variants
Melissa J. Landrum et al.
NUCLEIC ACIDS RESEARCH (2016)
Avoiding false discovery in biomarker research
Pranali Patel et al.
BMC BIOCHEMISTRY (2016)
Genome-wide compendium and functional assessment of in vivo heart enhancers
Diane E. Dickel et al.
NATURE COMMUNICATIONS (2016)
An integrative approach to predicting the functional effects of non-coding and coding sequence variation
Hashem A. Shihab et al.
BIOINFORMATICS (2015)
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)
New Perspectives on the Prevalence of Hypertrophic Cardiomyopathy
Christopher Semsarian et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2015)
Integrative analysis of 111 reference human epigenomes
Anshul Kundaje et al.
NATURE (2015)
StringTie enables improved reconstruction of a transcriptome from RNA-seq reads
Mihaela Pertea et al.
NATURE BIOTECHNOLOGY (2015)
HISAT: a fast spliced aligner with low memory requirements
Daehwan Kim et al.
NATURE METHODS (2015)
A copy number variation map of the human genome
Mehdi Zarrei et al.
NATURE REVIEWS GENETICS (2015)
ClinGen - The Clinical Genome Resource
Heidi L. Rehm et al.
NEW ENGLAND JOURNAL OF MEDICINE (2015)
Tissue-based map of the human proteome
Mathias Uhlen et al.
SCIENCE (2015)
The Ensembl Regulatory Build
Daniel R. Zerbino et al.
GENOME BIOLOGY (2015)
Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies
Chengliang Dong et al.
HUMAN MOLECULAR GENETICS (2015)
An atlas of active enhancers across human cell types and tissues
Robin Andersson et al.
NATURE (2014)
A general framework for estimating the relative pathogenicity of human genetic variants
Martin Kircher et al.
NATURE GENETICS (2014)
MutationTaster2: mutation prediction for the deep-sequencing age
Jana Marie Schwarz et al.
NATURE METHODS (2014)
Ranking non-synonymous single nucleotide polymorphisms based on disease concepts
Hashem A. Shihab et al.
HUMAN GENOMICS (2014)
Isaac: ultra-fast whole-genome secondary analysis on Illumina sequencing platforms
Come Raczy et al.
BIOINFORMATICS (2013)
Dilated Cardiomyopathy-Associated FHOD3 Variant Impairs the Ability to Induce Activation of Transcription Factor Serum Response Factor
Takuro Arimura et al.
CIRCULATION JOURNAL (2013)
Formin Homology 2 Domain Containing 3 Variants Associated With Hypertrophic Cardiomyopathy
Eric C. Wooten et al.
CIRCULATION-CARDIOVASCULAR GENETICS (2013)
Using ERDS to Infer Copy-Number Variants in High-Coverage Genomes
Mingfu Zhu et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Genetics of inherited cardiomyopathy
Daniel Jacoby et al.
EUROPEAN HEART JOURNAL (2012)
A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3
Pablo Cingolani et al.
FLY (2012)
Annotation of functional variation in personal genomes using RegulomeDB
Alan P. Boyle et al.
GENOME RESEARCH (2012)
An integrated encyclopedia of DNA elements in the human genome
Ian Dunham et al.
NATURE (2012)
Proteomic Analysis Reveals New Cardiac-Specific Dystrophin-Associated Proteins
Eric K. Johnson et al.
PLOS ONE (2012)
Predicting the Functional Effect of Amino Acid Substitutions and Indels
Yongwook Choi et al.
PLOS ONE (2012)
Factors Influencing Participation in a Population-based Biorepository for Childhood Heart Disease
Tanya Papaz et al.
PEDIATRICS (2012)
The variant call format and VCFtools
Petr Danecek et al.
BIOINFORMATICS (2011)
PHAST and RPHAST: phylogenetic analysis with space/time models
Melissa J. Hubisz et al.
BRIEFINGS IN BIOINFORMATICS (2011)
CNVnator: An approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing
Alexej Abyzov et al.
GENOME RESEARCH (2011)
Predicting the functional impact of protein mutations: application to cancer genomics
Boris Reva et al.
NUCLEIC ACIDS RESEARCH (2011)
Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor
William McLaren et al.
BIOINFORMATICS (2010)
International network of cancer genome projects
Thomas J. Hudson et al.
NATURE (2010)
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
Kai Wang et al.
NUCLEIC ACIDS RESEARCH (2010)
Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP plus
Eugene V. Davydov et al.
PLOS COMPUTATIONAL BIOLOGY (2010)
Differential expression analysis for sequence count data
Simon Anders et al.
GENOME BIOLOGY (2010)
Mutational Analysis of Fukutin Gene in Dilated Cardiomyopathy and Hypertrophic Cardiomyopathy
Takuro Arimura et al.
CIRCULATION JOURNAL (2009)
Classification of the cardiomyopathies: a position statement from the european society of cardiology working group on myocardial and pericardial diseases
Perry Elliott et al.
EUROPEAN HEART JOURNAL (2008)
Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness
Terumi Murakami et al.
ANNALS OF NEUROLOGY (2006)
Contemporary definitions and classification of the cardiomyopathies - An American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; And Council on Epidemiology and Prevention
BJ Maron et al.
CIRCULATION (2006)
Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes
A Siepel et al.
GENOME RESEARCH (2005)
SIFT: predicting amino acid changes that affect protein function
PC Ng et al.
NUCLEIC ACIDS RESEARCH (2003)
Skeletal, cardiac and tongue muscle pathology, defective retinal transmission, and neuronal migration defects in the Largemyd mouse defines a natural model for glycosylation-deficient muscle-eye-brain disorders
PJ Holzfeind et al.
HUMAN MOLECULAR GENETICS (2002)
Analysis of relative gene expression data using real-time quantitative PCR and the 2-ΔΔCT method
KJ Livak et al.
METHODS (2001)