Exome-Based Case-Control Analysis Highlights the Pathogenic Role of Ciliary Genes in Transposition of the Great Arteries
出版年份 2020 全文链接
标题
Exome-Based Case-Control Analysis Highlights the Pathogenic Role of Ciliary Genes in Transposition of the Great Arteries
作者
关键词
-
出版物
CIRCULATION RESEARCH
Volume -, Issue -, Pages -
出版商
Ovid Technologies (Wolters Kluwer Health)
发表日期
2020-02-11
DOI
10.1161/circresaha.119.315821
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Genetic architecture of laterality defects revealed by whole exome sequencing
- (2019) Alexander H. Li et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Maternal Overweight and Obesity and Risk of Congenital Heart Defects
- (2019) Martina Persson et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Oligogenic inheritance of a human heart disease involving a genetic modifier
- (2019) Casey A. Gifford et al. SCIENCE
- Airway ciliary dysfunction and respiratory symptoms in patients with transposition of the great arteries
- (2018) Maliha Zahid et al. PLoS One
- Familial co-occurrence of congenital heart defects follows distinct patterns
- (2017) Sabrina G Ellesøe et al. EUROPEAN HEART JOURNAL
- Advances in the Genetics of Congenital Heart Disease
- (2017) Gillian M. Blue et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- RVTESTS: an efficient and comprehensive tool for rare variant association analysis using sequence data: Table 1.
- (2016) Xiaowei Zhan et al. BIOINFORMATICS
- Prepregnancy Diabetes and Offspring Risk of Congenital Heart DiseaseCLINICAL PERSPECTIVE
- (2016) Nina Øyen et al. CIRCULATION
- Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome
- (2015) S. Paige Taylor et al. Nature Communications
- Stillbirth: The heart of the matter
- (2014) Michael Jorgensen et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Trimmomatic: a flexible trimmer for Illumina sequence data
- (2014) Anthony M. Bolger et al. BIOINFORMATICS
- A polygenic burden of rare disruptive mutations in schizophrenia
- (2014) Shaun M. Purcell et al. NATURE
- A general framework for estimating the relative pathogenicity of human genetic variants
- (2014) Martin Kircher et al. NATURE GENETICS
- De novo mutations in histone-modifying genes in congenital heart disease
- (2013) Samir Zaidi et al. NATURE
- High Prevalence of Respiratory Ciliary Dysfunction in Congenital Heart Disease Patients With Heterotaxy
- (2012) Nader Nakhleh et al. CIRCULATION
- Incidence of Aortic Complications in Patients With Bicuspid Aortic Valves
- (2011) Hector I. Michelena et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- Birth Prevalence of Congenital Heart Disease Worldwide
- (2011) Denise van der Linde et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- The primary cilium: a signalling centre during vertebrate development
- (2010) Sarah C. Goetz et al. NATURE REVIEWS GENETICS
- ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
- (2010) K. Wang et al. NUCLEIC ACIDS RESEARCH
- Fast and accurate short read alignment with Burrows-Wheeler transform
- (2009) H. Li et al. BIOINFORMATICS
- Familial transposition of the great arteries caused by multiple mutations in laterality genes
- (2009) A. De Luca et al. HEART
- Reduced NODAL Signaling Strength via Mutation of Several Pathway Members Including FOXH1 Is Linked to Human Heart Defects and Holoprosencephaly
- (2008) Erich Roessler et al. AMERICAN JOURNAL OF HUMAN GENETICS
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started