Rare and private variations in neural crest, apoptosis and sarcomere genes define the polygenic background of isolated Tetralogy of Fallot

A molecular and genetic outline of cardiac morphogenesis

(2013) M. S. Rana et al.   Acta Physiologica

The Congenital Heart Disease Genetic Network Study

(2013) et al.   CIRCULATION RESEARCH

Genetics of Congenital Heart Disease

(2013) Akl C. Fahed et al.   CIRCULATION RESEARCH

The Genome of the Netherlands: design, and project goals

(2013) Dorret I Boomsma et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Recessive TTN truncating mutations define novel forms of core myopathy with heart disease

(2013) C. Chauveau et al.   HUMAN MOLECULAR GENETICS

Genetic mutations and mechanisms in dilated cardiomyopathy

(2013) Elizabeth M. McNally et al.   JOURNAL OF CLINICAL INVESTIGATION

Hypertrophic cardiomyopathy

(2012) Barry J Maron et al.   LANCET

Truncations of Titin Causing Dilated Cardiomyopathy

(2012) Daniel S. Herman et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

Systems biology approaches to heart development and congenital heart disease

(2011) S. R. Sperling   CARDIOVASCULAR RESEARCH

How do MYBPC3 mutations cause hypertrophic cardiomyopathy?

(2011) Steven Marston et al.   JOURNAL OF MUSCLE RESEARCH AND CELL MOTILITY

Essential Roles of BCCIP in Mouse Embryonic Development and Structural Stability of Chromosomes

(2011) Huimei Lu et al.   PLoS Genetics

The Cardiac Transcription Network Modulated by Gata4, Mef2a, Nkx2.5, Srf, Histone Modifications, and MicroRNAs

(2011) Jenny Schlesinger et al.   PLoS Genetics

The functional spectrum of low-frequency coding variation

(2011) Gabor T Marth et al.   GENOME BIOLOGY

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Cardiac neural crest orchestrates remodeling and functional maturation of mouse semilunar valves

(2010) Rajan Jain et al.   JOURNAL OF CLINICAL INVESTIGATION

Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants

(2010) Yingrui Li et al.   NATURE GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Single-nucleotide evolutionary constraint scores highlight disease-causing mutations

(2010) Gregory M Cooper et al.   NATURE METHODS

Prediction of alternative isoforms from exon expression levels in RNA-Seq experiments

(2010) Hugues Richard et al.   NUCLEIC ACIDS RESEARCH

Probabilistic resolution of multi-mapping reads in massively parallel sequencing data using MuMRescueLite

(2009) T. Hashimoto et al.   BIOINFORMATICS

VarScan: variant detection in massively parallel sequencing of individual and pooled samples

(2009) Daniel C. Koboldt et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

RazerS--fast read mapping with sensitivity control

(2009) D. Weese et al.   GENOME RESEARCH

Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot

(2009) R. Rauch et al.   JOURNAL OF MEDICAL GENETICS

Tetralogy of Fallot

(2009) Christian Apitz et al.   LANCET

De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot

(2009) Steven C Greenway et al.   NATURE GENETICS

The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level

(2008) Christina B. Pedersen et al.   HUMAN GENETICS

Prediction of cardiac transcription networks based on molecular data and complex clinical phenotypes

(2008) Martje Toenjes et al.   Molecular BioSystems