De novo Damaging Variants, Clinical Phenotypes and Post-Operative Outcomes in Congenital Heart Disease

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

(2017) Sheng Chih Jin et al.   NATURE GENETICS

Burden of potentially pathologic copy number variants is higher in children with isolated congenital heart disease and significantly impairs covariate-adjusted transplant-free survival

(2016) Daniel Seung Kim et al.   JOURNAL OF THORACIC AND CARDIOVASCULAR SURGERY

A Long-Term Nationwide Follow-Up Study of Simple Congenital Heart Disease Diagnosed in Otherwise Healthy Children

(2015) Jørgen Videbæk et al.   CIRCULATION

22q11.2 Deletion Status and Disease Burden in Children and Adolescents With Tetralogy of FallotCLINICAL PERSPECTIVE

(2015) Laura Mercer-Rosa et al.   Circulation-Cardiovascular Genetics

Somatic Mutations and Clonal Hematopoiesis in Aplastic Anemia

(2015) Tetsuichi Yoshizato et al.   NEW ENGLAND JOURNAL OF MEDICINE

22q11.2 Deletion Status and Disease Burden in Children and Adolescents With Tetralogy of FallotCLINICAL PERSPECTIVE

(2015) Laura Mercer-Rosa et al.   Circulation-Cardiovascular Genetics

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

(2014) Joseph T. Glessner et al.   CIRCULATION RESEARCH

Genetics of Congenital Heart Disease

(2013) Akl C. Fahed et al.   CIRCULATION RESEARCH

Effect of Copy Number Variants on Outcomes for Infants With Single Ventricle Heart Defects

(2013) Abigail S. Carey et al.   Circulation-Cardiovascular Genetics

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

(2013) Samir Zaidi et al.   NATURE

Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease

(2012) Rachel Soemedi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Rare Copy Number Variations in Adults with Tetralogy of Fallot Implicate Novel Risk Gene Pathways

(2012) Candice K. Silversides et al.   PLoS Genetics

Rare Copy Number Variants Contribute to Congenital Left-Sided Heart Disease

(2012) Marc-Phillip Hitz et al.   PLoS Genetics

Birth Prevalence of Congenital Heart Disease Worldwide

(2011) Denise van der Linde et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Prevalence of Congenital Heart Defects in Metropolitan Atlanta, 1998-2005

(2008) Mark D. Reller et al.   JOURNAL OF PEDIATRICS