Lista de obras -

2-Year Outcomes After Complete or Staged Procedure for Tetralogy of Fallot in Neonates

artículo científico publicado en 2019

22q11.2 Deletion Status and Perioperative Outcomes for Tetralogy of Fallot with Pulmonary Atresia and Multiple Aortopulmonary Collateral Vessels

scientific article published on 08 March 2018

22q11.2 Deletion syndrome is associated with increased perioperative events and more complicated postoperative course in infants undergoing infant operative correction of truncus arteriosus communis or interrupted aortic arch

artículo científico publicado en 2014

22q11.2 Deletion syndrome is associated with perioperative outcome in tetralogy of Fallot

artículo científico publicado en 2013

22q11.2 deletion status and disease burden in children and adolescents with tetralogy of Fallot

artículo científico publicado en 2015

22q11.2 deletion syndrome and congenital heart disease

artículo científico publicado en 2020

22q11.2 deletion syndrome as a risk factor for aortic root dilation in tetralogy of Fallot

artículo científico publicado en 2013

22q11.2 deletions in patients with conotruncal defects: data from 1,610 consecutive cases

artículo científico publicado en 2013

A family with a complex clinical presentation characterized by arrhythmogenic right ventricular dysplasia/cardiomyopathy and features of branchio-oculo-facial syndrome

artículo científico publicado en 2013

Adrenergic receptor genotype influences heart failure severity and β-blocker response in children with dilated cardiomyopathy

artículo científico publicado en 2014

Adult CHD: the ongoing need for physician counselling about heredity and contraceptive options

artículo científico publicado en 2016

Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management

artículo científico publicado en 2008

Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and/or Alagille syndrome

artículo científico publicado en 2002

Analysis of chromosomal structural variation in patients with congenital left-sided cardiac lesions.

artículo científico publicado en 2014

Aortic root dilation in patients with 22q11.2 deletion syndrome.

artículo científico publicado en 2009

Association between cardiac tumors and tuberous sclerosis in the fetus and neonate

artículo científico publicado en 2003

Association of Habitual Activity and Body Mass Index in Survivors of Congenital Heart Surgery: A Study of Children and Adolescents With Tetralogy of Fallot, Transposition of the Great Arteries, and Fontan Palliation.

artículo científico publicado en 2018

Association of hypocalcemia with congenital heart disease in 22q11.2 deletion syndrome

scientific article published on 01 October 2018

CANOES: detecting rare copy number variants from whole exome sequencing data

artículo científico publicado en 2014

CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle

artículo científico publicado en 2002

Cardiac magnetic resonance imaging for accurate diagnosis of aortic arch anomalies in patients with 22q11.2 deletion

artículo científico publicado en 2005

Cerebrovascular Malformations in a Pediatric Hereditary Hemorrhagic Telangiectasia Cohort

artículo científico publicado en 2020

Chromosomal and cardiovascular anomalies associated with congenital laryngeal web

artículo científico publicado en 2002

Chromosome 22q11 deletion in patients with ventricular septal defect: frequency and associated cardiovascular anomalies

scientific article published on 01 December 2003

Clinical research careers: reports from a NHLBI pediatric heart network clinical research skills development conference

artículo científico publicado en 2011

Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries

scientific article published on 10 December 2021

Comparative PRKAR1A genotype-phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice

scholarly article

Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects

artículo científico publicado en 2019

Congenital heart disease in Cornelia de Lange syndrome: phenotype and genotype analysis

artículo científico publicado en 2012

Congenital heart diseases and cardiovascular abnormalities in 22q11.2 deletion syndrome: From well-established knowledge to new frontiers.

artículo científico publicado en 2018

Contribution of congenital heart disease to neuropsychiatric outcome in school-age children with 22q11.2 deletion syndrome

artículo científico publicado en 2013

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

artículo científico publicado en 2017

Copy number variations in individuals with conotruncal heart defects reveal some shared developmental pathways irrespective of 22q11.2 deletion status

scientific article published on 20 June 2019

Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome

artículo científico publicado en 2015

Correlation between abnormal cardiac physical examination and echocardiographic findings in neonates with Down syndrome

artículo científico publicado en 2002

Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephaly

artículo científico publicado en 2009

DNAH6 and Its Interactions with PCD Genes in Heterotaxy and Primary Ciliary Dyskinesia

artículo científico publicado en 2016

De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes

scientific article published on 17 October 2019

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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

Deficits in bone density and structure in children and young adults following Fontan palliation

artículo científico publicado en 2015

Deletion of ETS-1, a gene in the Jacobsen syndrome critical region, causes ventricular septal defects and abnormal ventricular morphology in mice

artículo científico publicado en 2009

Determinants of Exercise Performance in Children and Adolescents with Repaired Tetralogy of Fallot Using Stress Echocardiography

artículo científico publicado en 2018

DiGeorge syndrome: new insights

artículo científico publicado en 2005

Diastolic dysfunction in tetralogy of Fallot: Comparison of echocardiography with catheterization

artículo científico publicado en 2018

Differential Branch Pulmonary Artery Regurgitant Fraction Is a Function of Differential Pulmonary Arterial Anatomy and Pulmonary Vascular Resistance ⬇️

artículo científico publicado el 1 de mayo de 2011

EM-mosaic detects mosaic point mutations that contribute to congenital heart disease

artículo científico publicado en 2020

Early postoperative remodelling following repair of tetralogy of Fallot utilising unsedated cardiac magnetic resonance: a pilot study.

artículo científico publicado en 2018

Evaluating the role of connexin43 in congenital heart disease: Screening for mutations in patients with outflow tract anomalies and the analysis of knock-in mouse models

artículo científico publicado en 2011

Evaluation of heterogeneity in the association between congenital heart defects and variants of folate metabolism genes: conotruncal and left-sided cardiac defects

artículo científico publicado en 2011

Evaluation of potential modifiers of the cardiac phenotype in the 22q11.2 deletion syndrome

artículo científico publicado en 2009

Exercise Performance and 22q11.2 Deletion Status Affect Quality of Life in Tetralogy of Fallot

artículo científico publicado en 2017

GATA6 mutations in hiPSCs inform mechanisms for maldevelopment of the heart, pancreas, and diaphragm

artículo científico publicado en 2020

Gene-based analyses of the maternal genome implicate maternal effect genes as risk factors for conotruncal heart defects

artículo científico publicado en 2020

Gene-based genome-wide association studies and meta-analyses of conotruncal heart defects

artículo científico publicado en 2019

Gene-gene interactions in the folate metabolic pathway and the risk of conotruncal heart defects

artículo científico publicado en 2010

Genetic basis for congenital heart defects: current knowledge: a scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pedia

artículo científico publicado en 2007

Genetic counseling for congenital heart disease: new approaches for a new decade

artículo científico publicado en 2002

Genetic testing in congenital heart disease: ethical considerations

artículo científico publicado en 2013

Genetic variants of HIF1α are associated with right ventricular fibrotic load in repaired tetralogy of Fallot patients: a cardiovascular magnetic resonance study

artículo científico publicado en 2019

Genetics and genomics for the prevention and treatment of cardiovascular disease: update: a scientific statement from the American Heart Association

artículo científico publicado en 2013

Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects.

artículo científico publicado en 2017

Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3.

artículo científico publicado en 2017

Genome-wide association study of maternal and inherited effects on left-sided cardiac malformations

artículo científico publicado en 2014

Genome-wide association study of maternal and inherited loci for conotruncal heart defects

artículo científico publicado en 2014

Genomic analyses implicate noncoding de novo variants in congenital heart disease

scientific article published on 29 June 2020

Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients

artículo científico publicado en 2011

Habitual exercise correlates with exercise performance in patients with conotruncal abnormalities.

artículo científico publicado en 2012

Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability

artículo científico publicado en 2018

High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.

artículo científico publicado en 2009

Images in cardiovascular medicine. Partial anomalous left pulmonary artery

artículo científico publicado en 2009

Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data

artículo científico publicado en 2014

Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis

artículo científico publicado en 2010

Late effects in survivors of tandem peripheral blood stem cell transplant for high-risk neuroblastoma

artículo científico publicado en 2008

Lean mass deficits, vitamin D status and exercise capacity in children and young adults after Fontan palliation

artículo científico publicado en 2014

Longitudinal Changes in Right Ventricular Function in Tetralogy of Fallot in the Initial Years after Surgical Repair

artículo científico publicado en 2018

Longitudinal Validation of the Diastolic to Systolic Time-Velocity Integral Ratio as a Doppler-Derived Measure of Pulmonary Regurgitation in Patients with Repaired Tetralogy of Fallot

artículo científico publicado en 2016

Longitudinal changes in adolescents with TOF: implications for care

artículo científico publicado en 2017

Loss of RNA expression and allele-specific expression associated with congenital heart disease.

scientific article published on 27 September 2016

MESP1 Mutations in Patients with Congenital Heart Defects

artículo científico publicado en 2015

Microdeletions and microduplications in patients with congenital heart disease and multiple congenital anomalies.

artículo científico publicado en 2011

Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (transposition of the great arteries).

artículo científico publicado en 2003

Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects

artículo científico publicado en 2003

Morbidity in children and adolescents after surgical correction of interrupted aortic arch

artículo científico publicado en 2013

Morbidity in children and adolescents after surgical correction of truncus arteriosus communis

scientific article published on 16 July 2013

Mouse and human CRKL is dosage sensitive for cardiac outflow tract formation

artículo científico publicado en 2015

Mutational analysis of the PITX2 coding region revealed no common cause for transposition of the great arteries (dTGA)

artículo científico publicado en 2005

Mutations in NTRK3 suggest a novel signaling pathway in human congenital heart disease

artículo científico publicado en 2014

NAT1, NOS3, and TYMS genotypes and the risk of conotruncal cardiac defects.

artículo científico publicado en 2010

NKX2-6 related congenital heart disease: Biallelic homeodomain-disrupting variants and truncus arteriosus

scientific article published on 21 March 2020

NKX2.5mutations in patients with congenital heart disease ⬇️

artículo científico publicado el 5 de noviembre de 2003

Perioperative Factors Influence the Long-Term Outcomes of Children and Adolescents with Repaired Tetralogy of Fallot

artículo científico publicado en 2018

Preconceptual Folic Acid Use and Recurrence Risk Counseling for Congenital Heart Disease

artículo científico publicado en 2014

Predictors of Length of Hospital Stay After Complete Repair for Tetralogy of Fallot: A Prospective Cohort Study.

artículo científico publicado en 2018

Procollagen type III amino-terminal propeptide: a serum biomarker of left ventricular remodelling in paediatric dilated cardiomyopathy.

artículo científico publicado en 2013

Quality of Life is Diminished in Patients with Tetralogy of Fallot with Mild Residual Disease: A Comparison of Tetralogy of Fallot and Isolated Valvar Pulmonary Stenosis.

artículo científico publicado en 2017

Quantifying pulmonary regurgitation and right ventricular function in surgically repaired tetralogy of Fallot: a comparative analysis of echocardiography and magnetic resonance imaging.

artículo científico publicado en 2012

Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome

artículo científico publicado en 2016

Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations

scientific article published on 14 January 2020

Rare copy number variants in patients with congenital conotruncal heart defects.

artículo científico publicado en 2017

Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects

Reduced NODAL signaling strength via mutation of several pathway members including FOXH1 is linked to human heart defects and holoprosencephaly

artículo científico publicado en 2008

Relationship Between Habitual Exercise and Performance on Cardiopulmonary Exercise Testing Differs Between Children With Single and Biventricular Circulations

artículo científico publicado en 2016

Renin-Angiotensin-Aldosterone Genotype Influences Ventricular Remodeling in Infants With Single Ventricle ⬇️

artículo científico publicado el 16 de mayo de 2011

Resource Utilization in the First 2 Years Following Operative Correction for Tetralogy of Fallot: Study Using Data From the Optum's De-Identified Clinformatics Data Mart Insurance Claims Database

artículo científico publicado en 2020

Revisiting the End-Diastolic Forward Flow (Restrictive Physiology) in Tetralogy of Fallot: An Exercise, Echocardiographic, and Magnetic Resonance Study

scientific article published on 14 March 2018

Right Ventricular Contractile Reserve Is Impaired in Children and Adolescents With Repaired Tetralogy of Fallot: An Exercise Strain Imaging Study

artículo científico publicado en 2018

Risk of congenital heart disease in relatives of probands with conotruncal cardiac defects: an evaluation of 1,620 families.

artículo científico publicado en 2014

Robust identification of deletions in exome and genome sequence data based on clustering of Mendelian errors.

artículo científico publicado en 2018

Robust identification of mosaic variants in congenital heart disease

artículo científico publicado en 2018

Spectrum of heart disease associated with murine and human GATA4 mutation

scientific journal article

Staged Versus Complete Repair in the Symptomatic Neonate With Tetralogy of Fallot

artículo científico publicado en 2019

Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects

scientific article published on 08 April 2020

T-cell lymphopenia in 22q11.2 deletion syndrome: Relationship to cardiac disease.

artículo científico publicado en 2017

The 22q11.2 deletion in African-American patients: an underdiagnosed population?

artículo científico publicado en 2005

The Cardiovascular Effects of Obesity on Ventricular Function and Mass in Patients after Tetralogy of Fallot Repair

artículo científico

The Congenital Heart Disease Genetic Network Study: Cohort description

artículo científico publicado en 2018

The Congenital Heart Disease Genetic Network Study: rationale, design, and early results

artículo científico publicado en 2013

The Impact of the Right Ventricular Outflow Tract Patch on Right Ventricular Strain in Tetralogy of Fallot: A Comparison with Valvar Pulmonary Stenosis Utilizing Cardiac Magnetic Resonance

artículo científico publicado en 2017

The association of elevated maternal genetic risk scores for hypertension, type 2 diabetes and obesity and having a child with a congenital heart defect.

artículo científico publicado en 2019

The cardiovascular manifestations of Alagille syndrome and JAGI mutations.

artículo científico publicado en 2006

The genetic contribution to congenital heart disease

artículo científico publicado en 2004

The impact of pulmonary insufficiency on the right ventricle: a comparison of isolated valvar pulmonary stenosis and tetralogy of fallot

artículo científico publicado en 2014

The phenotypic spectrum of ZIC3 mutations includes isolated d-transposition of the great arteries and double outlet right ventricle.

artículo científico publicado en 2013

The prevalence of 16p12.1 microdeletion in patients with left-sided cardiac lesions.

artículo científico publicado en 2013

Trends in pulmonary valve replacement in children and adults with tetralogy of fallot

artículo científico publicado en 2014

Tricuspid annular plane systolic excursion in the assessment of right ventricular function in children and adolescents after repair of tetralogy of Fallot

artículo científico publicado en 2013

Utility of genetic evaluation in infants with congenital heart defects admitted to the cardiac intensive care unit

artículo científico publicado en 2016

Variants in ADRB1 and CYP2C9: Association with Response to Atenolol and Losartan in Marfan Syndrome

artículo científico publicado en 2020

Variants of folate metabolism genes and risk of left-sided cardiac defects

artículo científico publicado en 2010

Variants of folate metabolism genes and the risk of conotruncal cardiac defects.

artículo científico publicado en 2008

What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia

artículo científico publicado en 2018

X-chromosome association studies of congenital heart defects

scientific article published on 15 November 2019

Lista de obras de

2-Year Outcomes After Complete or Staged Procedure for Tetralogy of Fallot in Neonates

22q11.2 Deletion Status and Perioperative Outcomes for Tetralogy of Fallot with Pulmonary Atresia and Multiple Aortopulmonary Collateral Vessels

22q11.2 Deletion syndrome is associated with increased perioperative events and more complicated postoperative course in infants undergoing infant operative correction of truncus arteriosus communis or interrupted aortic arch

22q11.2 Deletion syndrome is associated with perioperative outcome in tetralogy of Fallot

22q11.2 deletion status and disease burden in children and adolescents with tetralogy of Fallot

22q11.2 deletion syndrome and congenital heart disease

22q11.2 deletion syndrome as a risk factor for aortic root dilation in tetralogy of Fallot

22q11.2 deletions in patients with conotruncal defects: data from 1,610 consecutive cases

A family with a complex clinical presentation characterized by arrhythmogenic right ventricular dysplasia/cardiomyopathy and features of branchio-oculo-facial syndrome

Adrenergic receptor genotype influences heart failure severity and β-blocker response in children with dilated cardiomyopathy

Adult CHD: the ongoing need for physician counselling about heredity and contraceptive options

Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management

Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and/or Alagille syndrome

Analysis of chromosomal structural variation in patients with congenital left-sided cardiac lesions.

Aortic root dilation in patients with 22q11.2 deletion syndrome.

Association between cardiac tumors and tuberous sclerosis in the fetus and neonate

Association of Habitual Activity and Body Mass Index in Survivors of Congenital Heart Surgery: A Study of Children and Adolescents With Tetralogy of Fallot, Transposition of the Great Arteries, and Fontan Palliation.

Association of hypocalcemia with congenital heart disease in 22q11.2 deletion syndrome

CANOES: detecting rare copy number variants from whole exome sequencing data

CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle

Cardiac magnetic resonance imaging for accurate diagnosis of aortic arch anomalies in patients with 22q11.2 deletion

Cerebrovascular Malformations in a Pediatric Hereditary Hemorrhagic Telangiectasia Cohort

Chromosomal and cardiovascular anomalies associated with congenital laryngeal web

Chromosome 22q11 deletion in patients with ventricular septal defect: frequency and associated cardiovascular anomalies

Clinical research careers: reports from a NHLBI pediatric heart network clinical research skills development conference

Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries

Comparative PRKAR1A genotype-phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice

Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects

Congenital heart disease in Cornelia de Lange syndrome: phenotype and genotype analysis

Congenital heart diseases and cardiovascular abnormalities in 22q11.2 deletion syndrome: From well-established knowledge to new frontiers.

Contribution of congenital heart disease to neuropsychiatric outcome in school-age children with 22q11.2 deletion syndrome

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

Copy number variations in individuals with conotruncal heart defects reveal some shared developmental pathways irrespective of 22q11.2 deletion status

Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome

Correlation between abnormal cardiac physical examination and echocardiographic findings in neonates with Down syndrome

Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephaly

DNAH6 and Its Interactions with PCD Genes in Heterotaxy and Primary Ciliary Dyskinesia

De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes

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

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

Deficits in bone density and structure in children and young adults following Fontan palliation

Deletion of ETS-1, a gene in the Jacobsen syndrome critical region, causes ventricular septal defects and abnormal ventricular morphology in mice

Determinants of Exercise Performance in Children and Adolescents with Repaired Tetralogy of Fallot Using Stress Echocardiography

DiGeorge syndrome: new insights

Diastolic dysfunction in tetralogy of Fallot: Comparison of echocardiography with catheterization

Differential Branch Pulmonary Artery Regurgitant Fraction Is a Function of Differential Pulmonary Arterial Anatomy and Pulmonary Vascular Resistance ⬇️

EM-mosaic detects mosaic point mutations that contribute to congenital heart disease

Early postoperative remodelling following repair of tetralogy of Fallot utilising unsedated cardiac magnetic resonance: a pilot study.

Evaluating the role of connexin43 in congenital heart disease: Screening for mutations in patients with outflow tract anomalies and the analysis of knock-in mouse models

Evaluation of heterogeneity in the association between congenital heart defects and variants of folate metabolism genes: conotruncal and left-sided cardiac defects

Evaluation of potential modifiers of the cardiac phenotype in the 22q11.2 deletion syndrome

Exercise Performance and 22q11.2 Deletion Status Affect Quality of Life in Tetralogy of Fallot

GATA6 mutations in hiPSCs inform mechanisms for maldevelopment of the heart, pancreas, and diaphragm

Gene-based analyses of the maternal genome implicate maternal effect genes as risk factors for conotruncal heart defects

Gene-based genome-wide association studies and meta-analyses of conotruncal heart defects

Gene-gene interactions in the folate metabolic pathway and the risk of conotruncal heart defects

Genetic basis for congenital heart defects: current knowledge: a scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pedia

Genetic counseling for congenital heart disease: new approaches for a new decade

Genetic testing in congenital heart disease: ethical considerations

Genetic variants of HIF1α are associated with right ventricular fibrotic load in repaired tetralogy of Fallot patients: a cardiovascular magnetic resonance study

Genetics and genomics for the prevention and treatment of cardiovascular disease: update: a scientific statement from the American Heart Association

Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects.

Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3.

Genome-wide association study of maternal and inherited effects on left-sided cardiac malformations

Genome-wide association study of maternal and inherited loci for conotruncal heart defects

Genomic analyses implicate noncoding de novo variants in congenital heart disease

Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients

Habitual exercise correlates with exercise performance in patients with conotruncal abnormalities.

Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability

High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.

Images in cardiovascular medicine. Partial anomalous left pulmonary artery

Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data

Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis

Late effects in survivors of tandem peripheral blood stem cell transplant for high-risk neuroblastoma

Lean mass deficits, vitamin D status and exercise capacity in children and young adults after Fontan palliation

Longitudinal Changes in Right Ventricular Function in Tetralogy of Fallot in the Initial Years after Surgical Repair

Longitudinal Validation of the Diastolic to Systolic Time-Velocity Integral Ratio as a Doppler-Derived Measure of Pulmonary Regurgitation in Patients with Repaired Tetralogy of Fallot

Longitudinal changes in adolescents with TOF: implications for care

Loss of RNA expression and allele-specific expression associated with congenital heart disease.