标题
Genomic analyses implicate noncoding de novo variants in congenital heart disease
作者
关键词
-
出版物
NATURE GENETICS
Volume 52, Issue 8, Pages 769-777
出版商
Springer Science and Business Media LLC
发表日期
2020-06-30
DOI
10.1038/s41588-020-0652-z
参考文献
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。- Elucidation of de novo small insertion/deletion biology with parent‐of‐origin phasing
- (2020) Allison H. Seiden et al. HUMAN MUTATION
- Selene: a PyTorch-based deep learning library for sequence data
- (2019) Kathleen M. Chen et al. NATURE METHODS
- Whole-genome deep-learning analysis identifies contribution of noncoding mutations to autism risk
- (2019) Jian Zhou et al. NATURE GENETICS
- Modeling RNA-Binding Protein Specificity In Vivo by Precisely Registering Protein-RNA Crosslink Sites
- (2019) Huijuan Feng et al. MOLECULAR CELL
- Identification of Rpl29 as a major substrate of the lysine methyltransferase Set7/9
- (2018) Tewfik Hamidi et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder
- (2018) Donna M. Werling et al. NATURE GENETICS
- Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association
- (2018) Mary Ella Pierpont et al. CIRCULATION
- CADD: predicting the deleteriousness of variants throughout the human genome
- (2018) Philipp Rentzsch et al. NUCLEIC ACIDS RESEARCH
- Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder
- (2018) Joon-Yong An et al. SCIENCE
- E-C coupling structural protein junctophilin-2 encodes a stress-adaptive transcription regulator
- (2018) Ang Guo et al. SCIENCE
- Parental influence on human germline de novo mutations in 1,548 trios from Iceland
- (2017) Hákon Jónsson et al. NATURE
- Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands
- (2017) Sheng Chih Jin et al. NATURE GENETICS
- Fast, scalable prediction of deleterious noncoding variants from functional and population genomic data
- (2017) Yi-Fei Huang et al. NATURE GENETICS
- An improved ATAC-seq protocol reduces background and enables interrogation of frozen tissues
- (2017) M Ryan Corces et al. NATURE METHODS
- Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
- (2017) Ryan K C Yuen et al. NATURE NEUROSCIENCE
- Optimized detection of insertions/deletions (INDELs) in whole-exome sequencing data
- (2017) Bo-Young Kim et al. PLoS One
- Analysis of protein-coding genetic variation in 60,706 humans
- (2016) Monkol Lek et al. NATURE
- Parent-of-origin-specific signatures of de novo mutations
- (2016) Jakob M Goldmann et al. NATURE GENETICS
- Cistrome Data Browser: a data portal for ChIP-Seq and chromatin accessibility data in human and mouse
- (2016) Shenglin Mei et al. NUCLEIC ACIDS RESEARCH
- Mouse Genome Database (MGD)-2017: community knowledge resource for the laboratory mouse
- (2016) Judith A. Blake et al. NUCLEIC ACIDS RESEARCH
- Mutation ofFnip1is associated with B-cell deficiency, cardiomyopathy, and elevated AMPK activity
- (2016) Owen M. Siggs et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Genome-wide compendium and functional assessment of in vivo heart enhancers
- (2016) Diane E. Dickel et al. Nature Communications
- ChIPseeker: an R/Bioconductor package for ChIP peak annotation, comparison and visualization
- (2015) Guangchuang Yu et al. BIOINFORMATICS
- Congenital diseases and semaphorin signaling: Overview to date of the evidence linking them
- (2015) Tomoyuki Masuda et al. CONGENITAL ANOMALIES
- MITF interacts with the SWI/SNF subunit, BRG1, to promote GATA4 expression in cardiac hypertrophy
- (2015) Gaurav Mehta et al. JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY
- Integrative analysis of 111 reference human epigenomes
- (2015) Anshul Kundaje et al. NATURE
- Predicting effects of noncoding variants with deep learning–based sequence model
- (2015) Jian Zhou et al. NATURE METHODS
- De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies
- (2015) J. Homsy et al. SCIENCE
- KLF15 Establishes the Landscape of Diurnal Expression in the Heart
- (2015) Lilei Zhang et al. Cell Reports
- Congenital diseases and semaphorin signaling: Overview to date of the evidence linking them
- (2015) Tomoyuki Masuda et al. CONGENITAL ANOMALIES
- Toward better understanding of artifacts in variant calling from high-coverage samples
- (2014) Heng Li BIOINFORMATICS
- Tissue-specific SMARCA4 binding at active and repressed regulatory elements during embryogenesis
- (2014) C. Attanasio et al. GENOME RESEARCH
- A comparative encyclopedia of DNA elements in the mouse genome
- (2014) Feng Yue et al. NATURE
- A general framework for estimating the relative pathogenicity of human genetic variants
- (2014) Martin Kircher et al. NATURE GENETICS
- Functional annotation of noncoding sequence variants
- (2014) Graham R S Ritchie et al. NATURE METHODS
- GATA-dependent regulatory switches establish atrioventricular canal specificity during heart development
- (2014) Sonia Stefanovic et al. Nature Communications
- Muscular Dystrophy-Associated SUN1 and SUN2 Variants Disrupt Nuclear-Cytoskeletal Connections and Myonuclear Organization
- (2014) Peter Meinke et al. PLoS Genetics
- Massively Parallel Reporter Assays in Cultured Mammalian Cells
- (2014) Alexandre Melnikov et al. Jove-Journal of Visualized Experiments
- Rapid and Pervasive Changes in Genome-wide Enhancer Usage during Mammalian Development
- (2013) Alex S. Nord et al. CELL
- BET Bromodomains Mediate Transcriptional Pause Release in Heart Failure
- (2013) Priti Anand et al. CELL
- The Congenital Heart Disease Genetic Network Study
- (2013) et al. CIRCULATION RESEARCH
- De novo mutations in histone-modifying genes in congenital heart disease
- (2013) Samir Zaidi et al. NATURE
- A Hypomorphic Lsd1 Allele Results in Heart Development Defects in Mice
- (2013) Thomas B. Nicholson et al. PLoS One
- Accumulation of the Inner Nuclear Envelope Protein Sun1 Is Pathogenic in Progeric and Dystrophic Laminopathies
- (2012) Chia-Yen Chen et al. CELL
- Dual transcriptional activator and repressor roles of TBX20 regulate adult cardiac structure and function
- (2012) Noboru J. Sakabe et al. HUMAN MOLECULAR GENETICS
- Transcriptional Regulation Patterns Revealed by High Resolution Chromatin Immunoprecipitation during Cardiac Hypertrophy
- (2012) Danish Sayed et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Genetic variation in T-box binding element functionally affects SCN5A/SCN10A enhancer
- (2012) Malou van den Boogaard et al. JOURNAL OF CLINICAL INVESTIGATION
- Arginylation regulates myofibrils to maintain heart function and prevent dilated cardiomyopathy
- (2012) Satoshi Kurosaka et al. JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY
- A map of the cis-regulatory sequences in the mouse genome
- (2012) Yin Shen et al. NATURE
- Directed cardiomyocyte differentiation from human pluripotent stem cells by modulating Wnt/β-catenin signaling under fully defined conditions
- (2012) Xiaojun Lian et al. Nature Protocols
- Fast Computation and Applications of Genome Mappability
- (2012) Thomas Derrien et al. PLoS One
- Lethal phenotype of mice carrying a Sept11 null mutation
- (2011) Sabrina Röseler et al. BIOLOGICAL CHEMISTRY
- Birth Prevalence of Congenital Heart Disease Worldwide
- (2011) Denise van der Linde et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Large-scale discovery of enhancers from human heart tissue
- (2011) Dalit May et al. NATURE GENETICS
- A framework for variation discovery and genotyping using next-generation DNA sequencing data
- (2011) Mark A DePristo et al. NATURE GENETICS
- Pooled Association Tests for Rare Variants in Exon-Resequencing Studies
- (2010) Alkes L. Price et al. AMERICAN JOURNAL OF HUMAN GENETICS
- The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
- (2010) A. McKenna et al. GENOME RESEARCH
- Simple Combinations of Lineage-Determining Transcription Factors Prime cis-Regulatory Elements Required for Macrophage and B Cell Identities
- (2010) Sven Heinz et al. MOLECULAR CELL
- ChIP-Seq identification of weakly conserved heart enhancers
- (2010) Matthew J Blow et al. NATURE GENETICS
- The Simons Simplex Collection: A Resource for Identification of Autism Genetic Risk Factors
- (2010) Gerald D. Fischbach et al. NEURON
- Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP++
- (2010) Eugene V. Davydov et al. PLoS Computational Biology
- Fast and accurate short read alignment with Burrows-Wheeler transform
- (2009) H. Li et al. BIOINFORMATICS
- Temporal and spatial expression of collagens during murine atrioventricular heart valve development and maintenance
- (2008) Jacqueline D. Peacock et al. DEVELOPMENTAL DYNAMICS
Publish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn MoreFind the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
Search