Modeling Human TBX5 Haploinsufficiency Predicts Regulatory Networks for Congenital Heart Disease

The Control of Diastolic Calcium in the Heart

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The mutational constraint spectrum quantified from variation in 141,456 humans

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Intrinsic Endocardial Defects Contribute to Hypoplastic Left Heart Syndrome

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Phenotypic Variation Between Stromal Cells Differentially Impacts Engineered Cardiac Tissue Function

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A calcium transport mechanism for atrial fibrillation in Tbx5-mutant mice

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DoubletFinder: Doublet Detection in Single-Cell RNA Sequencing Data Using Artificial Nearest Neighbors

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Comprehensive Integration of Single-Cell Data

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Oligogenic inheritance of a human heart disease involving a genetic modifier

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Rational Reprogramming of Cellular States by Combinatorial Perturbation

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Atrial fibrillation risk loci interact to modulate Ca2+-dependent atrial rhythm homeostasis

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A reference map of murine cardiac transcription factor chromatin occupancy identifies dynamic and conserved enhancers

(2019) Brynn N. Akerberg et al.   Nature Communications

A Spatiotemporal Organ-Wide Gene Expression and Cell Atlas of the Developing Human Heart

(2019) Michaela Asp et al.   CELL

bigSCale: an analytical framework for big-scale single-cell data

(2018) Giovanni Iacono et al.   GENOME RESEARCH

Integrating single-cell transcriptomic data across different conditions, technologies, and species

(2018) Andrew Butler et al.   NATURE BIOTECHNOLOGY

Single-cell reconstruction of developmental trajectories during zebrafish embryogenesis

(2018) Jeffrey A. Farrell et al.   SCIENCE

NKX2-5 regulates human cardiomyogenesis via a HEY2 dependent transcriptional network

(2018) David J. Anderson et al.   Nature Communications

Remodeling of the Embryonic Interventricular Communication in Regard to the Description and Classification of Ventricular Septal Defects

(2018) Robert H. Anderson et al.   Anatomical Record-Advances in Integrative Anatomy and Evolutionary Biology

Dimensionality reduction for visualizing single-cell data using UMAP

(2018) Etienne Becht et al.   NATURE BIOTECHNOLOGY

Defining human cardiac transcription factor hierarchies using integrated single-cell heterogeneity analysis

(2018) Jared M. Churko et al.   Nature Communications

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

(2017) Sheng Chih Jin et al.   NATURE GENETICS

Disease Model of GATA4 Mutation Reveals Transcription Factor Cooperativity in Human Cardiogenesis

(2016) Yen-Sin Ang et al.   CELL

Complex Interdependence Regulates Heterotypic Transcription Factor Distribution and Coordinates Cardiogenesis

(2016) Luis Luna-Zurita et al.   CELL

CRISPR Interference Efficiently Induces Specific and Reversible Gene Silencing in Human iPSCs

(2016) Mohammad A. Mandegar et al.   Cell Stem Cell

Single-Cell Resolution of Temporal Gene Expression during Heart Development

(2016) Daniel M. DeLaughter et al.   DEVELOPMENTAL CELL

The Cardiac TBX5 Interactome Reveals a Chromatin Remodeling Network Essential for Cardiac Septation

(2016) Lauren Waldron et al.   DEVELOPMENTAL CELL

Transcriptomic Profiling Maps Anatomically Patterned Subpopulations among Single Embryonic Cardiac Cells

(2016) Guang Li et al.   DEVELOPMENTAL CELL

TECRL , a new life‐threatening inherited arrhythmia gene associated with overlapping clinical features of both LQTS and CPVT

(2016) Harsha D Devalla et al.   EMBO Molecular Medicine

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing

(2016) Alejandro Sifrim et al.   NATURE GENETICS

Enrichr: a comprehensive gene set enrichment analysis web server 2016 update

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Pitx2 modulates a Tbx5 -dependent gene regulatory network to maintain atrial rhythm

(2016) Rangarajan D. Nadadur et al.   Science Translational Medicine

De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects

(2016) James R. Priest et al.   PLoS Genetics

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

(2015) Christina V. Theodoris et al.   CELL

Spatial reconstruction of single-cell gene expression data

(2015) Rahul Satija et al.   NATURE BIOTECHNOLOGY

De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies

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The Development of Septation in the Four-Chambered Heart

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Genetic basis of congenital cardiovascular malformations

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Isolation of single-base genome-edited human iPS cells without antibiotic selection

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Dynamic GATA4 enhancers shape the chromatin landscape central to heart development and disease

(2014) Aibin He et al.   Nature Communications

Insights into the Genetic Structure of Congenital Heart Disease from Human and Murine Studies on Monogenic Disorders

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Early patterning and specification of cardiac progenitors in gastrulating mesoderm

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Calcium Transients Closely Reflect Prolonged Action Potentials in iPSC Models of Inherited Cardiac Arrhythmia

(2014) C. Ian Spencer et al.   Stem Cell Reports

Enrichr: interactive and collaborative HTML5 gene list enrichment analysis tool

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Genome-wide association study identifies loci on 12q24 and 13q32 associated with Tetralogy of Fallot

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De novo mutations in histone-modifying genes in congenital heart disease

(2013) Samir Zaidi et al.   NATURE

A genome-wide association study identifies two risk loci for congenital heart malformations in Han Chinese populations

(2013) Zhibin Hu et al.   NATURE GENETICS

Identification of heart rate–associated loci and their effects on cardiac conduction and rhythm disorders

(2013) Marcel den Hoed et al.   NATURE GENETICS

Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16

(2013) Heather J Cordell et al.   NATURE GENETICS

Multiplex Genome Engineering Using CRISPR/Cas Systems

(2013) L. Cong et al.   SCIENCE

Heart repair by reprogramming non-myocytes with cardiac transcription factors

(2012) Kunhua Song et al.   NATURE

In vivo reprogramming of murine cardiac fibroblasts into induced cardiomyocytes

(2012) Li Qian et al.   NATURE

Meta-analysis identifies six new susceptibility loci for atrial fibrillation

(2012) Patrick T Ellinor et al.   NATURE GENETICS

Tbx2 and Tbx3 induce atrioventricular myocardial development and endocardial cushion formation

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Genome-Wide Association Studies of the PR Interval in African Americans

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Direct Reprogramming of Fibroblasts into Functional Cardiomyocytes by Defined Factors

(2010) Masaki Ieda et al.   CELL

GREAT improves functional interpretation of cis-regulatory regions

(2010) Cory Y McLean et al.   NATURE BIOTECHNOLOGY

Genome-wide association study of PR interval

(2010) Arne Pfeufer et al.   NATURE GENETICS

Physical Interaction between TBX5 and MEF2C Is Required for Early Heart Development

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A Robust Approach to Identifying Tissue-Specific Gene Expression Regulatory Variants Using Personalized Human Induced Pluripotent Stem Cells

(2009) Je-Hyuk Lee et al.   PLoS Genetics

Atrial Fibrillation and Other Clinical Manifestations of Altered TBX5 Dosage in Typical Holt–Oram Syndrome

(2008) Deborah A. McDermott et al.   CIRCULATION RESEARCH

Interaction of Gata4 and Gata6 with Tbx5 is critical for normal cardiac development

(2008) Meenakshi Maitra et al.   DEVELOPMENTAL BIOLOGY

Tbx5-dependent pathway regulating diastolic function in congenital heart disease

(2008) Y. Zhu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA