Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.
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New insights into the generation and role of de novo mutations in health and diseaseHeart Failure in Pediatric Patients With Congenital Heart Disease.Genetics and Genomics of Congenital Heart Disease.Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart DiseaseEmergency Spatiotemporal Shift: The Response of Protein Kinase D to Stress Signals in the Cardiovascular System.Prevalence and architecture of de novo mutations in developmental disorders.The Complex Genetic Basis of Congenital Heart Defects.Recent advances in congenital heart disease genomics.Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.MEF2C loss-of-function mutation contributes to congenital heart defects.Epigenetic mechanisms underlying maternal diabetes-associated risk of congenital heart disease.Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns.Integrated Bayesian analysis of rare exonic variants to identify risk genes for schizophrenia and neurodevelopmental disorders.Whole-Exome Sequencing in Adults With Chronic Kidney Disease: A Pilot Study.Integrated rare variant-based risk gene prioritization in disease case-control sequencing studies.ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder.Nervous system development and disease: A focus on trithorax related proteins and chromatin remodelers.Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability.The genetics of congenital heart disease… understanding and improving long-term outcomes in congenital heart disease: a review for the general cardiologist and primary care physician.Next generation sequencing applications for cardiovascular disease.Mutations in Hnrnpa1 cause congenital heart defects.Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis.Genome-wide enrichment of damaging de novo variants in patients with isolated and complex congenital diaphragmatic hernia.Experience with genomic sequencing in pediatric patients with congenital cardiac defects in a large community hospital.A CRISPR-based screen for Hedgehog signaling provides insights into ciliary function and ciliopathies.Modifying Mendel Redux: Unbiased Approaches Can Find Modifiers.Clinical significance of circulating microRNAs as markers in detecting and predicting congenital heart defects in children.Assessment of large copy number variants in patients with apparently isolated congenital left-sided cardiac lesions reveals clinically relevant genomic events.Distinct epigenomic patterns are associated with haploinsufficiency and predict risk genes of developmental disorders.CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and languageGenetic Imbalances in Argentinean Patients with Congenital Conotruncal Heart DefectsGenetic Testing and Pregnancy Outcome Analysis of 362 Fetuses with Congenital Heart Disease Identified by Prenatal Ultrasound
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P2860
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年学术文章
@wuu
2016年学术文章
@zh
2016年学术文章
@zh-cn
2016年学术文章
@zh-hans
2016年学术文章
@zh-my
2016年学术文章
@zh-sg
2016年學術文章
@yue
2016年學術文章
@zh-hant
name
Distinct genetic architectures ...... dentified by exome sequencing.
@en
Distinct genetic architectures ...... dentified by exome sequencing.
@nl
type
label
Distinct genetic architectures ...... dentified by exome sequencing.
@en
Distinct genetic architectures ...... dentified by exome sequencing.
@nl
prefLabel
Distinct genetic architectures ...... dentified by exome sequencing.
@en
Distinct genetic architectures ...... dentified by exome sequencing.
@nl
P2093
P2860
P50
P356
P1433
P1476
Distinct genetic architectures ...... identified by exome sequencing
@en
P2093
Alan Fryer
Allan Daly
Ami Ketley
Anna Wilsdon
Anne Katrin Lampe
Anne-Karin Kahlert
Ashok Kumar Manickara
Brigitte Stiller
Carmel Moore
Caroline F Wright
P2860
P2888
P304
P356
10.1038/NG.3627
P407
P50
P577
2016-08-01T00:00:00Z