The Molecular Basis of Congenital Heart Disease

Epigenetic regulation of gene expression: how the genome integrates intrinsic and environmental signals

2003 • 6,017 citations

The incidence of congenital heart disease

2002 • 5,652 citations

The fundamental role of epigenetic events in cancer

2002 • 5,532 citations

Mechanisms of Alternative Pre-Messenger RNA Splicing

2003 • 2,547 citations

Animal models of human disease: zebrafish swim into view

2007 • 2,032 citations

Epigenetic gene silencing in cancer – a mechanism for early oncogenic pathway addiction?

2006 • 1,625 citations

Mutations in NOTCH1 cause aortic valve disease

2005 • 1,415 citations

Dysregulation of Cardiogenesis, Cardiac Conduction, and Cell Cycle in Mice Lacking miRNA-1-2

2007 • 1,411 citations

NFAT Signaling

2002 • 1,316 citations

Congenital Heart Disease Caused by Mutations in the Transcription Factor NKX2-5

1998 • 1,284 citations

Are Rare Variants Responsible for Susceptibility to Complex Diseases?

2001 • 1,224 citations

GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5

2003 • 1,187 citations

Genome-wide association studies: theoretical and practical concerns

2005 • 1,165 citations

Myogenic and morphogenetic defects in the heart tubes of murine embryos lacking the homeo box gene Nkx2-5.

1995 • 1,130 citations

Candidate-gene approaches for studying complex genetic traits: practical considerations

2002 • 1,071 citations

Mutations in human cause limb and cardiac malformation in Holt-Oram syndrome

1997 • 1,066 citations

Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family

1997 • 909 citations

Disruption of hyaluronan synthase-2 abrogates normal cardiac morphogenesis and hyaluronan-mediated transformation of epithelium to mesenchyme

2000 • 864 citations

Role of TBX1 in human del22q11.2 syndrome

2003 • 848 citations

Incidence of congenital heart disease: I. Postnatal incidence

1995 • 780 citations

Prevalence Estimation of Williams Syndrome

2002 • 735 citations

Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways

1999 • 667 citations

Role of the NF-ATc transcription factor in morphogenesis of cardiac valves and septum

1998 • 639 citations

A genetic blueprint for cardiac development

2000 • 633 citations

Heart Valve Development

2004 • 629 citations

Epigenetics and MicroRNAs

2007 • 626 citations

Making or Breaking the Heart: From Lineage Determination to Morphogenesis

2006 • 625 citations

Tbx5 associates with Nkx2-5 and synergistically promotes cardiomyocyte differentiation

2001 • 586 citations

The transcription factor NF-ATc is essential for cardiac valve formation

1998 • 580 citations

Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus

2006 • 577 citations

The cardiac homeobox gene Csx/Nkx2.5 lies genetically upstream of multiple genes essential for heart development

1999 • 552 citations

Fashioning the vertebrate heart: earliest embryonic decisions

1997 • 490 citations

A role for Smad6 in development and homeostasis of the cardiovascular system

2000 • 488 citations

A murine model of hereditary hemorrhagic telangiectasia

1999 • 472 citations

Defects in cardiac outflow tract formation and pro-B-lymphocyte expansion in mice lacking Sox-4

1996 • 464 citations

Selective Inhibition of Vascular Endothelial Growth Factor–Mediated Angiogenesis by Cyclosporin a

2001 • 418 citations

Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden

2004 • 394 citations

NKX2.5mutations in patients with congenital heart disease

2003 • 385 citations

Requirement of Type III TGF-β Receptor for Endocardial Cell Transformation in the Heart

1999 • 376 citations

Cell Biology of Cardiac Cushion Development

2005 • 355 citations

Cooperative action of Tbx2 and Nkx2.5 inhibits ANF expression in the atrioventricular canal: implications for cardiac chamber formation

2002 • 353 citations

NOONAN SYNDROME AND RELATED DISORDERS: Genetics and Pathogenesis

2005 • 346 citations

Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects

2000 • 337 citations

NKX2.5 Mutations in Patients With Tetralogy of Fallot

2001 • 333 citations

Mice mutant for Egfr and Shp2 have defective cardiac semilunar valvulogenesis

2000 • 293 citations

The 11q terminal deletion disorder: A prospective study of 110 cases

2004 • 291 citations

Discovery of tissue-specific exons using comprehensive human exon microarrays

2007 • 287 citations

Familial Tetralogy of Fallot caused by mutation in the jagged1 gene

2001 • 285 citations

Basics of Cardiac Development for the Understanding of Congenital Heart Malformations

2004 • 280 citations

Calcineurin signaling and NFAT activation in cardiovascular and skeletal muscle development

2003 • 279 citations

Mutation in myosin heavy chain 6 causes atrial septal defect

2005 • 271 citations

Identification and Functional Analysis of ZIC3 Mutations in Heterotaxy and Related Congenital Heart Defects

2004 • 261 citations

Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus

2000 • 260 citations

GATA transcription factors and cardiac development

1999 • 259 citations

Cardiac homeobox gene NKX2-5mutations and congenital heart disease

2003 • 244 citations

Spectrum of heart disease associated with murine and human GATA4 mutation

2007 • 242 citations

Epidemiology of congenital heart disease : The Baltimore-Washington Infant Study 1981-1989

1993 • 239 citations

Cardiovascular manifestations in 75 patients with Williams syndrome

2002 • 226 citations

Tbx5 is essential for heart development

1999 • 219 citations

Maternal diabetes: An independent risk factor for major cardiovascular malformations with increased mortality of affected infants

2001 • 214 citations

Missense Mutations in CRELD1 Are Associated with Cardiac Atrioventricular Septal Defects

2003 • 204 citations

Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate

2006 • 197 citations

Ventricular Expression of tbx5 Inhibits Normal Heart Chamber Development

2000 • 196 citations

Vascular Endothelial Growth Factor Activates Nuclear Factor of Activated T Cells in Human Endothelial Cells: a Role for Tissue Factor Gene Expression

1999 • 195 citations

The natural history of the hypoplastic left heart syndrome

1989 • 192 citations

Cardiac neural crest

2005 • 189 citations

RXR alpha deficiency confers genetic susceptibility for aortic sac, conotruncal, atrioventricular cushion, and ventricular muscle defects in mice.

1996 • 189 citations

Epidemiology of cardiovascular malformations: Prevalence and risk factors

2000 • 183 citations

Neurofibromin modulation of ras activity is required for normal endocardial-mesenchymal transformation in the developing heart

1998 • 180 citations

A Common Progenitor at the Heart of Development

2006 • 167 citations

Rates and survival of individuals with trisomy 13 and 18 Data from a 10‐year period in Denmark

1988 • 162 citations

Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors

2005 • 161 citations

Jagged1 mutations in patients ascertained with isolated congenital heart defects

1999 • 158 citations

A role for serum response factor in coronary smooth muscle differentiation from proepicardial cells

1999 • 151 citations

A novel GATA4 mutation completely segregated with atrial septal defect in a large Japanese family

2004 • 150 citations

Context-dependent Transcriptional Cooperation Mediated by Cardiac Transcription Factors Csx/Nkx-2.5 and GATA-4

1999 • 119 citations

Direct Activation of a GATA6 Cardiac Enhancer by Nkx2.5: Evidence for a Reinforcing Regulatory Network of Nkx2.5 and GATA Transcription Factors in the Developing Heart

2000 • 116 citations

Association of Transposition of the Great Arteries in Infants with Maternal Exposures to Herbicides and Rodenticides

2001 • 111 citations

Epidemiologic Study of Down Syndrome in a Racially Diverse California Population, 1989-1991

1997 • 109 citations

Development of the coronary blood supply: Changing concepts and current ideas

2002 • 96 citations

A role for Tbx5 in proepicardial cell migration during cardiogenesis

2004 • 96 citations

Induction of Endocardial Cushion Tissue in the Avian Heart is Regulated, in Part, by TGFβ-3-Mediated Autocrine Signaling

1997 • 95 citations

Defective intracellular transport and processing of JAG1 missense mutations in Alagille syndrome

2001 • 89 citations

Notch Signaling: A Dance of Proteins Changing Partners

2000 • 86 citations

Gain-of-function/Noonan syndrome SHP-2/ Ptpn11 mutants enhance calcium oscillations and impair NFAT signaling

2006 • 83 citations

Mechanisms of Segmentation, Septation, and Remodeling of the Tubular Heart

1999 • 79 citations

Localization of the Wilms' tumour protein WT1 in avian embryos

2001 • 78 citations

Recurrence risks in children having one parent with a congenital heart disease.

1976 • 74 citations

A Role for GATA-4/5/6 in the Regulation of Nkx2.5 Expression with Implications for Patterning of the Precardiac Field

1999 • 73 citations

Molecular determinants of atrial and ventricular septal defects and patent ductus arteriosus

2000 • 67 citations

Molecular determinants of atrial and ventricular septal defects and patent ductus arteriosus

2000 • 60 citations

An Nkx-Dependent Enhancer Regulates cGATA-6 Gene Expression during Early Stages of Heart Development

2000 • 53 citations

Heart development: learning from mistakes

2002 • 52 citations

El epicardio y las células derivadas del epicardio: múltiples funciones en el desarrollo cardíaco

2002 • 48 citations

Cardiac neural crest stem cells

2003 • 45 citations

Cellular recruitment and the development of the myocardium

2004 • 45 citations

GATA Transcription Factors and Cardiac Development

1999 • 45 citations

Jagged1 (JAG1) mutation detection in an Australian Alagille syndrome population

2000 • 34 citations

Single-nucleotide polymorphisms of VEGF gene are associated with risk of congenital valvuloseptal heart defects

2006 • 32 citations

DNA Microarray Analysis for Human Congenital Heart Disease

2006 • 32 citations

Molecular and Cellular Basis of Congenital Heart Disease

2006 • 25 citations

Getting the T-box dose right

2001 • 23 citations

Conserved Enhancer in the Serum Response Factor Promoter Controls Expression During Early Coronary Vasculogenesis

2004 • 20 citations

Persistent Ductus Arteriosus in the Brown-Norway Inbred Rat Strain

2006 • 18 citations

Detection and frequency estimation of rare variants in pools of genomic DNA from large populations using mutational spectrometry

2005 • 15 citations

Scanning the β‐globin gene for mutations in large populations by denaturing capillary and gel electrophoresis

2005 • 13 citations