Haploinsufficiency ofinsulin gene enhancer protein 1(ISL1) is associated with d-transposition of the great arteries

Outlier-Based Identification of Copy Number Variations Using Targeted Resequencing in a Small Cohort of Patients with Tetralogy of Fallot

(2014) Vikas Bansal et al.   PLoS One

Identification of novel candidate gene loci and increased sex chromosome aneuploidy among infants with conotruncal heart defects

(2013) Kazutoyo Osoegawa et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The Database of Genomic Variants: a curated collection of structural variation in the human genome

(2013) Jeffrey R. MacDonald et al.   NUCLEIC ACIDS RESEARCH

Genetic Analysis of Essential Cardiac Transcription Factors in 256 Patients With Non-Syndromic Congenital Heart Defects

(2012) Kazuki Kodo et al.   CIRCULATION JOURNAL

A novel genetic variant in the transcription factor Islet-1 exerts gain of function on myocyte enhancer factor 2C promoter activity

(2012) Felix W. Friedrich et al.   EUROPEAN JOURNAL OF HEART FAILURE

ISL1 Directly Regulates FGF10 Transcription during Human Cardiac Outflow Formation

(2012) Christelle Golzio et al.   PLoS One

Predicting the Functional Effect of Amino Acid Substitutions and Indels

(2012) Yongwook Choi et al.   PLoS One

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Common Variation in ISL1 Confers Genetic Susceptibility for Human Congenital Heart Disease

(2010) Kristen N. Stevens et al.   PLoS One

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

(2009) Helen V. Firth et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2009) Prateek Kumar et al.   Nature Protocols

Chromosomal abnormalities among children born with conotruncal cardiac defects

(2008) Edward J. Lammer et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY