Loss of RNA expression and allele-specific expression associated with congenital heart disease

Using Next-generation RNA Sequencing to Examine Ischemic Changes Induced by Cold Blood Cardioplegia on the Human Left Ventricular Myocardium Transcriptome

(2015) Jochen D. Muehlschlegel et al.   ANESTHESIOLOGY

The landscape of genomic imprinting across diverse adult human tissues

(2015) Yael Baran et al.   GENOME RESEARCH

The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans

(2015) et al.   SCIENCE

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

(2015) J. Homsy et al.   SCIENCE

Characterizing noise structure in single-cell RNA-seq distinguishes genuine from technical stochastic allelic expression

(2015) Jong Kyoung Kim et al.   Nature Communications

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

Loss-of-function mutation in the X-linked TBX22 promoter disrupts an ETS-1 binding site and leads to cleft palate

(2014) Xiazhou Fu et al.   HUMAN GENETICS

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

The role of genomic imprinting in biology and disease: an expanding view

(2014) Jo Peters   NATURE REVIEWS GENETICS

Single-Cell RNA-Seq Reveals Dynamic, Random Monoallelic Gene Expression in Mammalian Cells

(2014) Q. Deng et al.   SCIENCE

Complex Genetics and the Etiology of Human Congenital Heart Disease

(2014) B. D. Gelb et al.   Cold Spring Harbor Perspectives in Medicine

Neural crest cells are required for correct positioning of the developing outflow cushions and pattern the arterial valve leaflets

(2013) Helen M. Phillips et al.   CARDIOVASCULAR RESEARCH

X-Inactivation, Imprinting, and Long Noncoding RNAs in Health and Disease

(2013) Jeannie T. Lee et al.   CELL

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

Generation of mice with a conditionalLbhnull allele

(2013) Linsey E. Lindley et al.   GENESIS

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

(2013) Samir Zaidi et al.   NATURE

The Genotype-Tissue Expression (GTEx) project

(2013) John Lonsdale et al.   NATURE GENETICS

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

(2012) Pablo Cingolani et al.   FLY

Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1

(2012) Carine Bonnard et al.   NATURE GENETICS

Promyelocytic Leukemia Zinc Finger Protein Activates GATA4 Transcription and Mediates Cardiac Hypertrophic Signaling from Angiotensin II Receptor 2

(2012) Ning Wang et al.   PLoS One

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

(2012) D. G. MacArthur et al.   SCIENCE

GATA5 interacts with GATA4 and GATA6 in outflow tract development

(2011) Brigitte Laforest et al.   DEVELOPMENTAL BIOLOGY

Genome-wide assessment of imprinted expression in human cells

(2011) Lisanne Morcos et al.   GENOME BIOLOGY

The FGF-BMP Signaling Axis Regulates Outflow Tract Valve Primordium Formation by Promoting Cushion Neural Crest Cell Differentiation

(2010) Jue Zhang et al.   CIRCULATION RESEARCH

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

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

(2010) Sarah B Ng et al.   NATURE GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Transcription is required for establishment of germline methylation marks at imprinted genes

(2009) M. Chotalia et al.   GENES & DEVELOPMENT