Published in Hum Mutat on July 01, 2002
Transcription factor pathways and congenital heart disease. Curr Top Dev Biol (2012) 1.41
Stem cell models of cardiac development and disease. Annu Rev Cell Dev Biol (2010) 1.03
Novel NKX2-5 mutations in diseased heart tissues of patients with cardiac malformations. Am J Pathol (2004) 1.02
Structure, Expression, and Function of a Novel Intercalated Disc Protein, Xin. J Med Sci (2005) 1.00
Molecular genetics of congenital atrial septal defects. Clin Res Cardiol (2009) 0.99
Functional characterization of a novel mutation in NKX2-5 associated with congenital heart disease and adult-onset cardiomyopathy. Circ Cardiovasc Genet (2013) 0.98
NKX2-5 mutations causative for congenital heart disease retain functionality and are directed to hundreds of targets. Elife (2015) 0.96
Crystal structure of the human NKX2.5 homeodomain in complex with DNA target. Biochemistry (2012) 0.95
Mutations of the GATA4 and NKX2.5 genes in Chinese pediatric patients with non-familial congenital heart disease. Genetica (2010) 0.94
Genetic origins of pediatric heart disease. Pediatr Cardiol (2009) 0.92
Familial congenital heart disease, progressive atrioventricular block and the cardiac homeobox transcription factor gene NKX2.5: identification of a novel mutation. Clin Res Cardiol (2006) 0.89
Differentiation of cardiac Purkinje fibers requires precise spatiotemporal regulation of Nkx2-5 expression. Dev Dyn (2006) 0.88
Crystallization and preliminary X-ray analysis of the NKX2.5 homeodomain in complex with DNA. Acta Crystallogr Sect F Struct Biol Cryst Commun (2008) 0.83
Familial Atrial Septal Defect and Sudden Cardiac Death: Identification of a Novel NKX2-5 Mutation and a Review of the Literature. Congenit Heart Dis (2015) 0.79
NKX2-5 mutations in an inbred consanguineous population: genetic and phenotypic diversity. Sci Rep (2015) 0.78
Nkx2-5 Regulates Tdgf1 (Cripto) Early During Cardiac Development. J Clin Exp Cardiolog (2012) 0.78
Insights into the genetic structure of congenital heart disease from human and murine studies on monogenic disorders. Cold Spring Harb Perspect Med (2014) 0.77
The Drosophila Transcription Factors Tinman and Pannier Activate and Collaborate with Myocyte Enhancer Factor-2 to Promote Heart Cell Fate. PLoS One (2015) 0.77
Prediction and validation of protein-protein interactors from genome-wide DNA-binding data using a knowledge-based machine-learning approach. Open Biol (2016) 0.75
Point mutations in murine Nkx2-5 phenocopy human congenital heart disease and induce pathogenic Wnt signaling. JCI Insight (2017) 0.75
A TBX5 3'UTR variant increases the risk of congenital heart disease in the Han Chinese population. Cell Discov (2017) 0.75
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med (2008) 10.88
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. Nat Genet (2010) 5.72
DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis. Nat Genet (2006) 4.49
Suppressed NFAT-dependent VEGFR1 expression and constitutive VEGFR2 signaling in infantile hemangioma. Nat Med (2008) 3.98
Chromosome instability is common in human cleavage-stage embryos. Nat Med (2009) 3.85
Neurocognitive development of children 4 years after critical illness and treatment with tight glucose control: a randomized controlled trial. JAMA (2012) 3.16
Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome. Nat Genet (2011) 2.74
Practical guidelines for managing patients with 22q11.2 deletion syndrome. J Pediatr (2011) 2.57
Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. Am J Hum Genet (2003) 2.56
Reduced right ventricular ejection fraction in endurance athletes presenting with ventricular arrhythmias: a quantitative angiographic assessment. Eur Heart J (2007) 2.45
Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients. Eur Heart J (2007) 2.39
Cardiac MRI: a new gold standard for ventricular volume quantification during high-intensity exercise. Circ Cardiovasc Imaging (2012) 2.36
Association of localized intravascular coagulopathy with venous malformations. Arch Dermatol (2008) 2.31
Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome). Am J Hum Genet (2007) 2.22
A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria. Proc Natl Acad Sci U S A (2004) 2.19
Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia. Am J Hum Genet (2003) 2.10
RASA1: variable phenotype with capillary and arteriovenous malformations. Curr Opin Genet Dev (2005) 2.10
Molecular karyotyping: array CGH quality criteria for constitutional genetic diagnosis. J Histochem Cytochem (2005) 2.05
Sense of coherence and perceived physical health explain the better quality of life in adolescents with congenital heart disease. Eur J Cardiovasc Nurs (2013) 2.03
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. Hum Mutat (2008) 2.00
Somatic mutations in angiopoietin receptor gene TEK cause solitary and multiple sporadic venous malformations. Nat Genet (2008) 1.95
Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease. Am J Hum Genet (2012) 1.92
Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse. Genome Res (2002) 1.91
Transcatheter closure of congenital ventricular septal defects: results of the European Registry. Eur Heart J (2007) 1.89
Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes. Nat Genet (2007) 1.85
Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes. Hum Mutat (2007) 1.79
VEGF: a modifier of the del22q11 (DiGeorge) syndrome? Nat Med (2003) 1.79
Human laterality disorders. Eur J Med Genet (2006) 1.74
Glomuvenous malformation (glomangioma) and venous malformation: distinct clinicopathologic and genetic entities. Arch Dermatol (2004) 1.73
FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation. Am J Hum Genet (2003) 1.70
Genetic causes of vascular malformations. Hum Mol Genet (2007) 1.69
Congenital veno-venous malformations of the liver: widely variable clinical presentations. J Gastroenterol Hepatol (2007) 1.68
Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations ("glomangiomas"). Am J Hum Genet (2002) 1.66
Interferon regulatory factor-6: a gene predisposing to isolated cleft lip with or without cleft palate in the Belgian population. Eur J Hum Genet (2005) 1.62
KITLG mutations cause familial progressive hyper- and hypopigmentation. J Invest Dermatol (2011) 1.59
Temporal trends in survival to adulthood among patients born with congenital heart disease from 1970 to 1992 in Belgium. Circulation (2010) 1.57
Guidelines for molecular karyotyping in constitutional genetic diagnosis. Eur J Hum Genet (2007) 1.56
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. Am J Hum Genet (2011) 1.55
Expectations and experiences of adolescents with congenital heart disease on being transferred from pediatric cardiology to an adult congenital heart disease program. J Adolesc Health (2009) 1.54
Off-label use of percutaneous pulmonary valved stents in the right ventricular outflow tract: time to rewrite the label? Catheter Cardiovasc Interv (2013) 1.53
Bailout stenting for critical coarctation in premature/critical/complex/early recoarcted neonates. Catheter Cardiovasc Interv (2010) 1.47
Clinical and mutational spectrum of Mowat-Wilson syndrome. Eur J Med Genet (2005) 1.46
A modified technique of stent fenestration of the interatrial septum improves patients with pulmonary hypertension. Catheter Cardiovasc Interv (2009) 1.42
Outcome after percutaneous closure of a patent foramen ovale using the Intrasept device: a multi-centre study. Catheter Cardiovasc Interv (2008) 1.40
Stent expansion of stretch Gore-Tex grafts in children with congenital heart lesions. Catheter Cardiovasc Interv (2010) 1.40
Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice. J Clin Invest (2009) 1.40
Doubly committed ventricular septal defect: single-centre experience and midterm follow-up. Cardiology (2011) 1.39
Pulmonary atresia/ventricular septal defect associated with facial port-wine stain and retinal vascular abnormality: a new constellation or deletion in chromosome 22q11.2? Am J Med Genet A (2005) 1.38
Pericardial effusion in the first trimester of pregnancy. Prenat Diagn (2011) 1.38
Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome. Genet Med (2009) 1.38
SCAMP5, NBEA and AMISYN: three candidate genes for autism involved in secretion of large dense-core vesicles. Hum Mol Genet (2010) 1.38
Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis. Hum Mol Genet (2005) 1.37
Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome. PLoS Genet (2011) 1.34
Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations. Nephron Physiol (2013) 1.31
A novel mutation L619F in the cardiac Na+ channel SCN5A associated with long-QT syndrome (LQT3): a role for the I-II linker in inactivation gating. Hum Mutat (2003) 1.27
Genetics of lymphatic anomalies. J Clin Invest (2014) 1.23
Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16. Nat Genet (2013) 1.23
From germline towards somatic mutations in the pathophysiology of vascular anomalies. Hum Mol Genet (2009) 1.23
Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas. JAMA (2010) 1.22
Alpha-cardiac actin mutations produce atrial septal defects. Hum Mol Genet (2007) 1.21
Fine-grained facial phenotype-genotype analysis in Wolf-Hirschhorn syndrome. Eur J Hum Genet (2011) 1.20
Molecular identification of aspartate N-acetyltransferase and its mutation in hypoacetylaspartia. Biochem J (2009) 1.20
Quantification of regional left and right ventricular radial and longitudinal function in healthy children using ultrasound-based strain rate and strain imaging. J Am Soc Echocardiogr (2002) 1.20
TMEM165 deficiency causes a congenital disorder of glycosylation. Am J Hum Genet (2012) 1.20
Array comparative genomic hybridization as a diagnostic tool for syndromic heart defects. J Pediatr (2010) 1.20
PTHR1 mutations associated with Ollier disease result in receptor loss of function. Hum Mol Genet (2008) 1.20
Predictive testing for hereditary nonpolyposis colorectal cancer: subjective perception regarding colorectal and endometrial cancer, distress, and health-related behavior at one year post-test. Genet Test (2005) 1.19
Percutaneous closure of a persistent left superior vena cava connected to the left atrium. Int J Cardiol (2006) 1.18
Hereditary cutaneomucosal venous malformations are caused by TIE2 mutations with widely variable hyper-phosphorylating effects. Eur J Hum Genet (2009) 1.17
Early motor development in young children with 22q.11 deletion syndrome and a conotruncal heart defect. Dev Med Child Neurol (2005) 1.17
What does it mean to live with a congenital heart disease? A qualitative study on the lived experiences of adult patients. Eur J Cardiovasc Nurs (2005) 1.17
Minimum prevalence, birth incidence and cause of death for Prader-Willi syndrome in Flanders. Eur J Hum Genet (2004) 1.16
Fetal surgery is a clinical reality. Semin Fetal Neonatal Med (2009) 1.15
Congenital heart disease in 111 225 births in Belgium: birth prevalence, treatment and survival in the 21st century. Acta Paediatr (2008) 1.14
Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesis. Hum Mutat (2007) 1.13
MR coronary angiography and late-enhancement myocardial MR in children who underwent arterial switch surgery for transposition of great arteries. Radiology (2004) 1.12
Acute cardiac functional and morphological changes after Anthracycline infusions in children. Am J Cardiol (2007) 1.12
Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy. Am J Hum Genet (2012) 1.10
Trisomy 19 ependymoma, a newly recognized genetico-histological association, including clear cell ependymoma. Mol Cancer (2007) 1.09
RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation. Hum Mutat (2013) 1.09
GATA-3 in human T cell helper type 2 development. J Exp Med (2004) 1.09
A review of the options for treatment of major aortopulmonary collateral arteries in the setting of tetralogy of Fallot with pulmonary atresia. Cardiol Young (2006) 1.08
Hybrid approach as bridge to biventricular repair in a neonate with critical aortic stenosis and borderline left ventricle. Eur J Cardiothorac Surg (2009) 1.08
Subtelomeric imbalances in phenotypically normal individuals. Hum Mutat (2007) 1.07
Mutation analysis in Costello syndrome: functional and structural characterization of the HRAS p.Lys117Arg mutation. Hum Mutat (2008) 1.07
Narrowing the critical deletion region for autism spectrum disorders on 16p11.2. Am J Med Genet B Neuropsychiatr Genet (2011) 1.06
Identification and characterization of the TRIP8 and REEP3 genes on chromosome 10q21.3 as novel candidate genes for autism. Eur J Hum Genet (2007) 1.06
Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients. Hum Mutat (2011) 1.05
Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot. Hum Mol Genet (2013) 1.04
Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations. Am J Med Genet A (2005) 1.04
Haploinsufficiency of TAB2 causes congenital heart defects in humans. Am J Hum Genet (2010) 1.04
Novel TBX5 mutations in patients with Holt-Oram syndrome. Clin Orthop Relat Res (2007) 1.04