A Non-coding HES1 Variant Predisposes Children to Congenital Heart Disease in Chinese Population

Exome-Based Case-Control Analysis Highlights the Pathogenic Role of Ciliary Genes in Transposition of the Great Arteries

(2020) Xuanyu Liu et al.   CIRCULATION RESEARCH

Whole Exome Sequencing Reveals the Major Genetic Contributors to Non-Syndromic Tetralogy of Fallot

(2019) Donna J Page et al.   CIRCULATION RESEARCH

MicroRNA-34a modulates the Notch signaling pathway in mice with congenital heart disease and its role in heart development

(2018) Kai-Hong Wu et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

MiR-182 alleviates the development of cyanotic congenital heart disease by suppressing HES1

(2018) Yanwei Zhang et al.   EUROPEAN JOURNAL OF PHARMACOLOGY

Prevalence of Congenital Heart Disease at Live Birth in China

(2018) Qu-Ming Zhao et al.   JOURNAL OF PEDIATRICS

Disruption of spatiotemporal hypoxic signaling causes congenital heart disease in mice

(2017) Xuejun Yuan et al.   JOURNAL OF CLINICAL INVESTIGATION

Mechanisms of retinoic acid signaling during cardiogenesis

(2017) Sonia Stefanovic et al.   MECHANISMS OF DEVELOPMENT

Signaling through retinoic acid receptors in cardiac development: Doing the right things at the right times

(2015) José Xavier-Neto et al.   Biochimica et Biophysica Acta-Gene Regulatory Mechanisms

Endocardial Notch Signaling in Cardiac Development and Disease

(2015) Guillermo Luxán et al.   CIRCULATION RESEARCH

Global genetic analysis in mice unveils central role for cilia in congenital heart disease

(2015) You Li et al.   NATURE

Stillbirth: The heart of the matter

(2014) Michael Jorgensen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Nuclear Receptors, RXR, and the Big Bang

(2014) Ronald M. Evans et al.   CELL

Retinoic acid controls body axis extension by directly repressing Fgf8 transcription

(2014) S. Kumar et al.   DEVELOPMENT

Congenital Heart Defects in Patients with Deletions Upstream ofSOX9

(2013) Marta Sanchez-Castro et al.   HUMAN MUTATION

Coordinating Tissue Interactions: Notch Signaling in Cardiac Development and Disease

(2012) José Luis de la Pompa et al.   DEVELOPMENTAL CELL

Regulatory variation in a TBX5 enhancer leads to isolated congenital heart disease

(2012) Scott Smemo et al.   HUMAN MOLECULAR GENETICS

Genetic and environmental risk factors in congenital heart disease functionally converge in protein networks driving heart development

(2012) K. Lage et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Transcriptional enhancers in development and disease

(2012) Noboru Sakabe et al.   GENOME BIOLOGY

Loss of Cited2 causes congenital heart disease by perturbing left–right patterning of the body axis

(2011) Kylie Lopes Floro et al.   HUMAN MOLECULAR GENETICS

The study of copy number variations in the regions of NOTCH1 among Chinese VSD and TOF patients

(2011) Jing Wang et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

9p21 DNA variants associated with coronary artery disease impair interferon-γ signalling response

(2011) Olivier Harismendy et al.   NATURE

Exome sequencing as a tool for Mendelian disease gene discovery

(2011) Michael J. Bamshad et al.   NATURE REVIEWS GENETICS

Hes1 expression is reduced in Tbx1 null cells and is required for the development of structures affected in 22q11 deletion syndrome

(2010) Kelly Lammerts van Bueren et al.   DEVELOPMENTAL BIOLOGY

The Importance of Being Cis: Evolution of Orthologous Fish and Mammalian Enhancer Activity

(2010) Deborah I. Ritter et al.   MOLECULAR BIOLOGY AND EVOLUTION

From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus

(2010) Kiran Musunuru et al.   NATURE

Genomic views of distant-acting enhancers

(2009) Axel Visel et al.   NATURE

De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot

(2009) Steven C Greenway et al.   NATURE GENETICS

Hes1 Is Expressed in the Second Heart Field and Is Required for Outflow Tract Development

(2009) Francesca Rochais et al.   PLoS One

A transcriptionally silent RXR  supports early embryonic morphogenesis and heart development

(2009) B. Mascrez et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The developmental genetics of congenital heart disease

(2008) Benoit G. Bruneau   NATURE