Exome analysis of a family with pleiotropic congenital heart disease

CB Arrington, SB Bleyl, N Matsunami… - Circulation …, 2012 - Am Heart Assoc
Background—A number of single gene defects have been identified in patients with isolated
or nonsyndromic congenital heart defects (CHDs). However, due to significant genetic …

Genetics and genetic testing in congenital heart disease

JR Cowan, SM Ware - Clinics in perinatology, 2015 - perinatology.theclinics.com
The impact of congenital heart defects (CHDs) is profound. With a traditionally cited
incidence of 8 per 1000 live births (w1%), and a need for expert cardiologic intervention in 3 …

Genetic basis of congenital cardiovascular malformations

SR Lalani, JW Belmont - European journal of medical genetics, 2014 - Elsevier
Cardiovascular malformations are a singularly important class of birth defects and due to
dramatic improvements in medical and surgical care, there are now large numbers of adult …

[HTML][HTML] Identification of clinically actionable variants from genome sequencing of families with congenital heart disease

D Alankarage, E Ip, JO Szot, J Munro, GM Blue… - Genetics in …, 2019 - Elsevier
Purpose Congenital heart disease (CHD) affects up to 1% of live births. However, a genetic
diagnosis is not made in most cases. The purpose of this study was to assess the outcomes …

The developing heart and congenital heart defects: a make or break situation

BG Bruneau - Clinical genetics, 2003 - Wiley Online Library
Congenital heart defects are common in humans, but the underlying basis for these defects
is not well understood. It has been clear that abnormal heart development is at the root of …

The congenital heart disease genetic network study: rationale, design, and early results

Pediatric Cardiac Genomics Consortium… - Circulation …, 2013 - Am Heart Assoc
Congenital heart defects (CHD) are the leading cause of infant mortality among birth defects,
and later morbidities and premature mortality remain problematic. Although genetic factors …

The developmental genetics of congenital heart disease

BG Bruneau - Nature, 2008 - nature.com
Congenital heart disease is the leading cause of infant morbidity in the Western world, but
only in the past ten years has its aetiology been understood. Recent studies have uncovered …

In vivo and in vitro genetic models of congenital heart disease

U Majumdar, J Yasuhara… - Cold Spring Harbor …, 2021 - cshperspectives.cshlp.org
Congenital cardiovascular malformations represent the most common type of birth defect
and encompass a spectrum of anomalies that range from mild to severe. The etiology of …

[HTML][HTML] The importance of copy number variation in congenital heart disease

G Costain, CK Silversides, AS Bassett - NPJ genomic medicine, 2016 - nature.com
Congenital heart disease (CHD) is the most common class of major malformations in
humans. The historical association with large chromosomal abnormalities foreshadowed the …

Genetic contribution to neurodevelopmental outcomes in congenital heart disease: are some patients predetermined to have developmental delay?

CK Rollins, JW Newburger… - Current opinion in …, 2017 - journals.lww.com
Innate and patient factors appear to be more important in predicting neurodevelopmental
outcome than medical/surgical variables. Future research is needed to establish a broader …