Variants in GATA4 are a rare cause of familial and sporadic congenital diaphragmatic hernia

Recent Developments in the Genetic Factors Underlying Congenital Diaphragmatic Hernia

(2014) Paul D. Brady et al.   FETAL DIAGNOSIS AND THERAPY

De novo copy number variants are associated with congenital diaphragmatic hernia

(2012) Lan Yu et al.   JOURNAL OF MEDICAL GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia

(2009) Margaret J. Wat et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Prenatal retinoic acid up-regulates pulmonary gene expression of COUP-TFII, FOG2, and GATA4 in pulmonary hypoplasia

(2009) Takashi Doi et al.   JOURNAL OF PEDIATRIC SURGERY

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

ToppGene Suite for gene list enrichment analysis and candidate gene prioritization

(2009) J. Chen et al.   NUCLEIC ACIDS RESEARCH

The effect of human GATA4 gene mutations on the activity of target gonadal promoters

(2008) Marie France Bouchard et al.   JOURNAL OF MOLECULAR ENDOCRINOLOGY

ENDEAVOUR update: a web resource for gene prioritization in multiple species

(2008) L.-C. Tranchevent et al.   NUCLEIC ACIDS RESEARCH