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Oligogenic inheritance of congenital heart disease involving a NKX2-5 modifier

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What this work says

Outgoing claims: the papers this work cites, builds on, or argues with.

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From FastQ Data to High‐Confidence Variant Calls: The Genome Analysis Toolkit Best Practices Pipeline

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Pluripotent Stem Cell‐Based Platforms in Cardiac Disease Modeling and Drug Testing

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Prenatal ultrasound diagnosis of MYH7 non‐compaction cardiomyopathy

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Genetic Origins of Pediatric Heart Disease

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The Actin–MRTF–SRF Gene Regulatory Axis and Myofibroblast Differentiation

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Left Ventricular Non-Compaction in Athletes: To Play or Not to Play

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Rare-Variant Association Analysis: Study Designs and Statistical Tests

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From Peas to Disease: Modifier Genes, Network Resilience, and the Genetics of Health

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Variant Interpretation: Functional Assays to the Rescue

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Serum response factor micromanaging cardiogenesis

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Human Disease Modeling Reveals Integrated Transcriptional and Epigenetic Mechanisms of NOTCH1 Haploinsufficiency

inferredcites →https://doi.org/10.1016/j.jacc.2011.08.025openalex-snapshot

Birth Prevalence of Congenital Heart Disease Worldwide

inferredcites →https://doi.org/10.1016/j.tig.2014.09.001openalex-snapshot

Higher-order genetic interactions and their contribution to complex traits

inferredcites →https://doi.org/10.1016/j.ydbio.2015.09.006openalex-snapshot

Myocardin-related transcription factors are required for cardiac development and function

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A Murine Model of Holt-Oram Syndrome Defines Roles of the T-Box Transcription Factor Tbx5 in Cardiogenesis and Disease

inferredcites →https://doi.org/10.1038/35056009openalex-snapshot

Modifier genes in mice and humans

inferredcites →https://doi.org/10.1038/nature06801openalex-snapshot

The developmental genetics of congenital heart disease

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Integrative analysis of 111 reference human epigenomes

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A global reference for human genetic variation

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Analysis of protein-coding genetic variation in 60,706 humans

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Sequential Notch activation regulates ventricular chamber development

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Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands

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Differential gene and transcript expression analysis of RNA-seq experiments with TopHat and Cufflinks

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Human gene essentiality

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Missing heritability and strategies for finding the underlying causes of complex disease

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Requirement of myocardin-related transcription factor-B for remodeling of branchial arch arteries and smooth muscle differentiation

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The mystery of missing heritability: Genetic interactions create phantom heritability

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Robust cardiomyocyte differentiation from human pluripotent stem cells via temporal modulation of canonical Wnt signaling

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Defining functional DNA elements in the human genome

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Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

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STAR: ultrafast universal RNA-seq aligner

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Systematic Review of Pregnancy in Women with Inherited Cardiomyopathies

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Genetic and epigenetic contribution to complex traits

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CRISPR/Cas9 for genome editing: progress, implications and challenges

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ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

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Easy quantitative assessment of genome editing by sequence trace decomposition

inferredcites →https://doi.org/10.1093/nar/gkv1222openalex-snapshot

ClinVar: public archive of interpretations of clinically relevant variants

inferredcites →https://doi.org/10.1093/nar/gkw1108openalex-snapshot

Expansion of the Gene Ontology knowledgebase and resources

inferredcites →https://doi.org/10.1093/nar/gkw1138openalex-snapshot

PANTHER version 11: expanded annotation data from Gene Ontology and Reactome pathways, and data analysis tool enhancements

inferredcites →https://doi.org/10.1101/cshperspect.a013953openalex-snapshot

Complex Genetics and the Etiology of Human Congenital Heart Disease

inferredcites →https://doi.org/10.1101/cshperspect.a017145openalex-snapshot

Genetic Modifiers and Oligogenic Inheritance

inferredcites →https://doi.org/10.1101/gr.192526.115openalex-snapshot

An extended set of yeast-based functional assays accurately identifies human disease mutations

inferredcites →https://doi.org/10.1111/j.1540-8167.2007.00965.xopenalex-snapshot

Genetic Basis of Hypertrophic Cardiomyopathy: From Bench to the Clinics

inferredcites →https://doi.org/10.1126/science.1262110openalex-snapshot

The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans

inferredcites →https://doi.org/10.1126/scitranslmed.aah5084openalex-snapshot

BET bromodomain inhibition suppresses innate inflammatory and profibrotic transcriptional networks in heart failure

inferredcites →https://doi.org/10.1128/mcb.18.6.3120openalex-snapshot

The Cardiac Tissue-Restricted Homeobox Protein Csx/Nkx2.5 Physically Associates with the Zinc Finger Protein GATA4 and Cooperatively Activates Atrial Natriuretic Factor Gene Expression

inferredcites →https://doi.org/10.1136/hrt.2009.181685openalex-snapshot

Familial transposition of the great arteries caused by multiple mutations in laterality genes

inferredcites →https://doi.org/10.1139/bcb-2016-0137openalex-snapshot

Precision genome editing in the CRISPR era

inferredcites →https://doi.org/10.1159/000252808openalex-snapshot

Cardiomyopathy: A Systematic Review of Disease-Causing Mutations in Myosin Heavy Chain 7 and Their Phenotypic Manifestations

inferredcites →https://doi.org/10.1161/circgenetics.111.961136openalex-snapshot

Complex Trait Analysis of Ventricular Septal Defects Caused by Nkx2-5 Mutation

inferredcites →https://doi.org/10.1161/circgenetics.113.000057openalex-snapshot

Functional Characterization of a Novel Mutation in NKX2-5 Associated With Congenital Heart Disease and Adult-Onset Cardiomyopathy

inferredcites →https://doi.org/10.1161/circgenetics.113.000281openalex-snapshot

A Mouse Model of Human Congenital Heart Disease

inferredcites →https://doi.org/10.1161/circgenetics.117.001968openalex-snapshot

Is Left Ventricular Noncompaction a Trait, Phenotype, or Disease?

inferredcites →https://doi.org/10.1161/circresaha.112.300853openalex-snapshot

Genetics of Congenital Heart Disease

inferredcites →https://doi.org/10.1161/circresaha.115.304458openalex-snapshot

Increased Frequency of De Novo Copy Number Variants in Congenital Heart Disease by Integrative Analysis of Single Nucleotide Polymorphism Array and Exome Sequence Data

inferredcites →https://doi.org/10.1161/circresaha.116.309140openalex-snapshot

Genetics and Genomics of Congenital Heart Disease

inferredcites →https://doi.org/10.1161/circulationaha.109.887687openalex-snapshot

Heterogeneity of Genetic Modifiers Ensures Normal Cardiac Development

inferredcites →https://doi.org/10.1161/jaha.117.006210openalex-snapshot

A Wide and Specific Spectrum of Genetic Variants and Genotype–Phenotype Correlations Revealed by Next‐Generation Sequencing in Patients with Left Ventricular Noncompaction

inferredcites →https://doi.org/10.1210/jc.2005-1350openalex-snapshot

Missense Mutation in the Transcription Factor NKX2–5: A Novel Molecular Event in the Pathogenesis of Thyroid Dysgenesis

inferredcites →https://doi.org/10.1242/dev.116418openalex-snapshot

Myocardin-related transcription factors control the motility of epicardium-derived cells and the maturation of coronary vessels

inferredcites →https://doi.org/10.1242/dev.126.19.4223openalex-snapshot

Control of segmental expression of the cardiac-restricted ankyrin repeat protein gene by distinct regulatory pathways in murine cardiogenesis

inferredcites →https://doi.org/10.1253/circj.cj-16-1343openalex-snapshot

The Complex Genetic Basis of Congenital Heart Defects

inferredcites →https://doi.org/10.1371/journal.pone.0083295openalex-snapshot

Transcriptional Defect of an Inherited NKX2-5 Haplotype Comprising a SNP, a Nonsynonymous and a Synonymous Mutation, Associated with Human Congenital Heart Disease

inferredcites →https://doi.org/10.1371/journal.pone.0095453openalex-snapshot

Functionally Significant, Rare Transcription Factor Variants in Tetralogy of Fallot

inferredcites →https://doi.org/10.15252/embj.201695137openalex-snapshot

MRTF potentiates TEAD‐YAP transcriptional activity causing metastasis

inferredcites →https://doi.org/10.1542/pir.31-1-4openalex-snapshot

Heart Failure in Infants and Children

inferredcites →https://doi.org/10.3791/1729openalex-snapshot

Transverse Aortic Constriction in Mice

What points at this work

Incoming claims: where this work appears in other papers’ reference lists and arguments.

inferred← citeshttps://doi.org/10.1007/s00059-019-04883-1openalex-snapshot

Multiallelic rare variants support an oligogenic origin of sudden cardiac death in the young

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