Genomic frontiers in congenital heart disease
The application of next-generation sequencing to study congenital heart disease (CHD) is
increasingly providing new insights into the causes and mechanisms of this prevalent birth …
increasingly providing new insights into the causes and mechanisms of this prevalent birth …
Genetic basis for congenital heart disease: revisited: a scientific statement from the American Heart Association
This review provides an updated summary of the state of our knowledge of the genetic
contributions to the pathogenesis of congenital heart disease. Since 2007, when the initial …
contributions to the pathogenesis of congenital heart disease. Since 2007, when the initial …
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands
Congenital heart disease (CHD) is the leading cause of mortality from birth defects. Here,
exome sequencing of a single cohort of 2,871 CHD probands, including 2,645 parent …
exome sequencing of a single cohort of 2,871 CHD probands, including 2,645 parent …
Prevalence and architecture of de novo mutations in developmental disorders
Nature, 2017 - nature.com
The genomes of individuals with severe, undiagnosed developmental disorders are
enriched in damaging de novo mutations (DNMs) in developmentally important genes. Here …
enriched in damaging de novo mutations (DNMs) in developmentally important genes. Here …
Genetics and genomics of congenital heart disease
S Zaidi, M Brueckner - Circulation research, 2017 - Am Heart Assoc
Congenital heart disease is the most common birth defect, and because of major advances
in medical and surgical management, there are now more adults living with congenital heart …
in medical and surgical management, there are now more adults living with congenital heart …
New insights into the generation and role of de novo mutations in health and disease
Aside from inheriting half of the genome of each of our parents, we are born with a small
number of novel mutations that occurred during gametogenesis and postzygotically. Recent …
number of novel mutations that occurred during gametogenesis and postzygotically. Recent …
MetaDome: Pathogenicity analysis of genetic variants through aggregation of homologous human protein domains
L Wiel, C Baakman, D Gilissen, JA Veltman… - Human …, 2019 - Wiley Online Library
The growing availability of human genetic variation has given rise to novel methods of
measuring genetic tolerance that better interpret variants of unknown significance. We …
measuring genetic tolerance that better interpret variants of unknown significance. We …
Genetics of congenital heart disease
K Williams, J Carson, C Lo - Biomolecules, 2019 - mdpi.com
Congenital heart disease (CHD) is one of the most common birth defects. Studies in animal
models and humans have indicated a genetic etiology for CHD. About 400 genes have been …
models and humans have indicated a genetic etiology for CHD. About 400 genes have been …
Transcript expression-aware annotation improves rare variant interpretation
The acceleration of DNA sequencing in samples from patients and population studies has
resulted in extensive catalogues of human genetic variation, but the interpretation of rare …
resulted in extensive catalogues of human genetic variation, but the interpretation of rare …
Iranome: a catalog of genomic variations in the Iranian population
Considering the application of human genome variation databases in precision medicine,
population‐specific genome projects are continuously being developed. However, the …
population‐specific genome projects are continuously being developed. However, the …