Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms

[1]  Ryan L. Collins,et al.  The mutational constraint spectrum quantified from variation in 141,456 humans , 2020, Nature.

[2]  I. El-rassi,et al.  A Novel Somatic Variant in HEY2 Unveils an Alternative Splicing Isoform Linked to Ventricular Septal Defect , 2019, Pediatric Cardiology.

[3]  Kathryn E. Hentges,et al.  Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot , 2019, Circulation research.

[4]  The UniProt Consortium,et al.  UniProt: a worldwide hub of protein knowledge , 2018, Nucleic Acids Res..

[5]  Michael D. Wilson,et al.  Hey2 regulates the size of the cardiac progenitor pool during vertebrate heart development , 2018, Development.

[6]  Kashish Chetal,et al.  Defining human cardiac transcription factor hierarchies using integrated single-cell heterogeneity analysis , 2018, Nature Communications.

[7]  Yufeng Shen,et al.  Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands , 2017, Nature Genetics.

[8]  E. Benjamin,et al.  Gain-of-function mutations in GATA6 lead to atrial fibrillation. , 2017, Heart rhythm.

[9]  Tomas W. Fitzgerald,et al.  Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing , 2016, Nature Genetics.

[10]  H. Meijers-Heijboer,et al.  Targeted carrier screening for four recessive disorders: high detection rate within a founder population. , 2015, European journal of medical genetics.

[11]  J. Kalman,et al.  Exome sequencing identifies a mutation in the ACTN2 gene in a family with idiopathic ventricular fibrillation, left ventricular noncompaction, and sudden death , 2014, BMC Medical Genetics.

[12]  M. Gessler,et al.  GATA-dependent regulatory switches establish atrioventricular canal specificity during heart development , 2014, Nature Communications.

[13]  R Core Team,et al.  R: A language and environment for statistical computing. , 2014 .

[14]  Dan M Roden,et al.  Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death , 2013, Nature Genetics.

[15]  T. Burns,et al.  Nongenetic Risk Factors and Congenital Heart Defects , 2013, Pediatric Cardiology.

[16]  Seunggeun Lee,et al.  General framework for meta-analysis of rare variants in sequencing association studies. , 2013, American journal of human genetics.

[17]  Lars Otten,et al.  A system for exact and approximate genetic linkage analysis of SNP data in large pedigrees , 2013, Bioinform..

[18]  M. Rieder,et al.  Optimal unified approach for rare-variant association testing with application to small-sample case-control whole-exome sequencing studies. , 2012, American journal of human genetics.

[19]  A. Fanaroff Birth Prevalence of Congenital Heart Disease Worldwide: A Systematic Review and Meta-Analysis , 2012 .

[20]  J. Roos‐Hesselink,et al.  Birth prevalence of congenital heart disease worldwide: a systematic review and meta-analysis. , 2011, Journal of the American College of Cardiology.

[21]  A. Mégarbané,et al.  A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defects , 2009, Journal of Medical Genetics.

[22]  P. Pellikka,et al.  Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy. , 2009, Journal of the American College of Cardiology.

[23]  A. Moorman,et al.  Tbx20 Interacts With Smads to Confine Tbx2 Expression to the Atrioventricular Canal , 2009, Circulation research.

[24]  J. Draus,et al.  Investigation of somatic NKX2-5 mutations in congenital heart disease , 2008, Journal of Medical Genetics.

[25]  A. Moorman,et al.  A Gain-of-Function TBX5 Mutation Is Associated With Atypical Holt–Oram Syndrome and Paroxysmal Atrial Fibrillation , 2008, Circulation research.

[26]  D. Srivastava,et al.  Essential roles of the bHLH transcription factor Hrt2 in repression of atrial gene expression and maintenance of postnatal cardiac function , 2007, Proceedings of the National Academy of Sciences.

[27]  Y. Saga,et al.  Hesr1 and Hesr2 regulate atrioventricular boundary formation in the developing heart through the repression of Tbx2 , 2007, Development.

[28]  M. Chin,et al.  Abstract 1238: CHF1/Hey2 Plays a Pivotal Role in Left Ventricular Maturation through Suppression of Ectopic Atrial Gene Expression , 2006 .

[29]  A. Fischer,et al.  Developmental patterning of the cardiac atrioventricular canal by Notch and Hairy-related transcription factors , 2006, Development.

[30]  M. Chin,et al.  The spectrum of cardiovascular anomalies in CHF1/Hey2 deficient mice reveals roles in endocardial cushion, myocardial and vascular maturation. , 2006, Journal of molecular and cellular cardiology.

[31]  J. Borlak,et al.  HEY2 mutations in malformed hearts , 2006, Human mutation.

[32]  D. Simon,et al.  Transcription Factor CHF1/Hey2 Regulates Neointimal Formation In Vivo and Vascular Smooth Muscle Proliferation and Migration In Vitro , 2004, Arteriosclerosis, thrombosis, and vascular biology.

[33]  Randy L. Johnson,et al.  Targeted Disruption of hesr2 Results in Atrioventricular Valve Anomalies That Lead to Heart Dysfunction , 2004, Circulation research.

[34]  A. Fischer,et al.  Phenotypic variability in Hey2 −/− mice and absence of HEY2 mutations in patients with congenital heart defects or Alagille syndrome , 2004, Mammalian Genome.

[35]  S. Minoshima,et al.  Role of TBX1 in human del22q11.2 syndrome , 2003, The Lancet.

[36]  R. Schwartz,et al.  Mutations in the muscle LIM protein and alpha-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis. , 2003, Molecular genetics and metabolism.

[37]  R. Bronson,et al.  Ventricular septal defect and cardiomyopathy in mice lacking the transcription factor CHF1/Hey2 , 2002, Proceedings of the National Academy of Sciences of the United States of America.

[38]  Y. Jan,et al.  Tetralogy of Fallot and Other Congenital Heart Defects in Hey2 Mutant Mice , 2002, Current Biology.

[39]  S. Fukumoto,et al.  Cardiovascular Basic Helix Loop Helix Factor 1, a Novel Transcriptional Repressor Expressed Preferentially in the Developing and Adult Cardiovascular System* , 2000, The Journal of Biological Chemistry.