Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing

The diagnostic value of next generation sequencing in familial nonsyndromic congenital heart defects

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Positional mapping ofPRKD1,NRP1andPRDM1as novel candidate disease genes in truncus arteriosus

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Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

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Characterization of Human Cyclin-Dependent Kinase 12 (CDK12) and CDK13 Complexes in C-Terminal Domain Phosphorylation, Gene Transcription, and RNA Processing

(2015) Kaiwei Liang et al.   MOLECULAR AND CELLULAR BIOLOGY

The maternal-age-associated risk of congenital heart disease is modifiable

(2015) Claire E. Schulkey et al.   NATURE

Global genetic analysis in mice unveils central role for cilia in congenital heart disease

(2015) You Li et al.   NATURE

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

(2015) Nadia Akawi et al.   NATURE GENETICS

De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies

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The contribution of de novo coding mutations to autism spectrum disorder

(2014) Ivan Iossifov et al.   NATURE

A framework for the interpretation of de novo mutation in human disease

(2014) Kaitlin E Samocha et al.   NATURE GENETICS

STRING v10: protein–protein interaction networks, integrated over the tree of life

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The INTERVAL trial to determine whether intervals between blood donations can be safely and acceptably decreased to optimise blood supply: study protocol for a randomised controlled trial

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MLL2 and KDM6A mutations in patients with Kabuki syndrome

(2013) Noriko Miyake et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

De novo mutations in histone-modifying genes in congenital heart disease

(2013) Samir Zaidi et al.   NATURE

DeNovoGear: de novo indel and point mutation discovery and phasing

(2013) Avinash Ramu et al.   NATURE METHODS

The NuRD Chromatin-Remodeling Enzyme CHD4 Promotes Embryonic Vascular Integrity by Transcriptionally Regulating Extracellular Matrix Proteolysis

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Integrated Model of De Novo and Inherited Genetic Variants Yields Greater Power to Identify Risk Genes

(2013) Xin He et al.   PLoS Genetics

Exome sequencing and the genetic basis of complex traits

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Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

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InnateDB: systems biology of innate immunity and beyond—recent updates and continuing curation

(2012) Karin Breuer et al.   NUCLEIC ACIDS RESEARCH

The Cyclin K/Cdk12 complex maintains genomic stability via regulation of expression of DNA damage response genes

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Haploinsufficiency of TAB2 Causes Congenital Heart Defects in Humans

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Fast and accurate long-read alignment with Burrows–Wheeler transform

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Regulation of DNA-damage responses and cell-cycle progression by the chromatin remodelling factor CHD4

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

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Jagged1 (JAG1) mutations in patients with tetralogy of fallot or pulmonic stenosis

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The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Recurrence of Congenital Heart Defects in Families

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Protein structure homology modeling using SWISS-MODEL workspace

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The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease

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Requirement of protein kinase D1 for pathological cardiac remodeling

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