Systems genetics analysis identifies calcium-signaling defects as novel cause of congenital heart disease
Published 2020 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Systems genetics analysis identifies calcium-signaling defects as novel cause of congenital heart disease
Authors
Keywords
-
Journal
Genome Medicine
Volume 12, Issue 1, Pages -
Publisher
Springer Science and Business Media LLC
Online
2020-08-28
DOI
10.1186/s13073-020-00772-z
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- De novo variants in exomes of congenital heart disease patients identify risk genes and pathways
- (2020) Cigdem Sevim Bayrak et al. Genome Medicine
- CEP128 Localizes to the Subdistal Appendages of the Mother Centriole and Regulates TGF-β/BMP Signaling at the Primary Cilium
- (2018) Maren Mönnich et al. Cell Reports
- Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association
- (2018) Mary Ella Pierpont et al. CIRCULATION
- 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
- Sequencing and de novo assembly of 150 genomes from Denmark as a population reference
- (2017) Lasse Maretty et al. NATURE
- The complex genetics of hypoplastic left heart syndrome
- (2017) Xiaoqin Liu et al. NATURE GENETICS
- KMT2D regulates specific programs in heart development via histone H3 lysine 4 di-methylation
- (2016) Siang-Yun Ang et al. DEVELOPMENT
- Calreticulin secures calcium-dependent nuclear pore competency required for cardiogenesis
- (2016) Randolph S. Faustino et al. JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY
- Analysis of protein-coding genetic variation in 60,706 humans
- (2016) Monkol Lek et al. NATURE
- Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing
- (2016) Alejandro Sifrim et al. NATURE GENETICS
- A scored human protein–protein interaction network to catalyze genomic interpretation
- (2016) Taibo Li et al. NATURE METHODS
- A global reference for human genetic variation
- (2015) Richard A. Gibbs et al. NATURE
- Novel variation and de novo mutation rates in population-wide de novo assembled Danish trios
- (2015) Søren Besenbacher et al. Nature Communications
- Familial Atrial Septal Defect and Sudden Cardiac Death: Identification of a NovelNKX2-5Mutation and a Review of the Literature
- (2015) Sabrina Gade Ellesøe et al. Congenital Heart Disease
- 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
- Targeted Next-Generation Sequencing Identifies Pathogenic Variants in Familial Congenital Heart Disease
- (2014) Gillian M. Blue et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- A general framework for estimating the relative pathogenicity of human genetic variants
- (2014) Martin Kircher et al. NATURE GENETICS
- Modules, networks and systems medicine for understanding disease and aiding diagnosis
- (2014) Mika Gustafsson et al. Genome Medicine
- Whole-Exome Sequencing of 2,000 Danish Individuals and the Role of Rare Coding Variants in Type 2 Diabetes
- (2013) Kirk E. Lohmueller et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Of mice and men: molecular genetics of congenital heart disease
- (2013) Troels Askhøj Andersen et al. CELLULAR AND MOLECULAR LIFE SCIENCES
- Unmasking Kabuki syndrome
- (2012) N Bögershausen et al. CLINICAL GENETICS
- Zebrafish Mef2ca and Mef2cb are essential for both first and second heart field cardiomyocyte differentiation
- (2012) Yaniv Hinits et al. DEVELOPMENTAL BIOLOGY
- Detecting overlapping protein complexes in protein-protein interaction networks
- (2012) Tamás Nepusz et al. NATURE METHODS
- Genetic and environmental risk factors in congenital heart disease functionally converge in protein networks driving heart development
- (2012) K. Lage et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Inositol 1,4,5-trisphosphate receptors are essential for the development of the second heart field
- (2011) Maki Nakazawa et al. JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY
- Birth Prevalence of Congenital Heart Disease Worldwide
- (2011) Denise van der Linde et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- A framework for variation discovery and genotyping using next-generation DNA sequencing data
- (2011) Mark A DePristo et al. NATURE GENETICS
- Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor
- (2010) William McLaren et al. BIOINFORMATICS
- A method and server for predicting damaging missense mutations
- (2010) Ivan A Adzhubei et al. NATURE METHODS
- Risks of congenital malformations and perinatal events among infants exposed to calcium channel and beta-blockers during pregnancy
- (2010) Robert L. Davis et al. PHARMACOEPIDEMIOLOGY AND DRUG SAFETY
- Gene Knock-Outs of Inositol 1,4,5-Trisphosphate Receptors Types 1 and 2 Result in Perturbation of Cardiogenesis
- (2010) Keiko Uchida et al. PLoS One
- Fast and accurate short read alignment with Burrows-Wheeler transform
- (2009) H. Li et al. BIOINFORMATICS
- AmiGO: online access to ontology and annotation data
- (2008) Seth Carbon et al. BIOINFORMATICS
- The safety of calcium channel blockers during pregnancy: A prospective, multicenter, observational study
- (2008) Corinna Weber-Schoendorfer et al. REPRODUCTIVE TOXICOLOGY
- High-resolution in situ hybridization to whole-mount zebrafish embryos
- (2007) Christine Thisse et al. Nature Protocols
Add your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload NowAsk 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