Published in J Pediatr on February 06, 2010
The severe end of the spectrum: Hypoplastic left heart in Potocki-Lupski syndrome. Am J Med Genet A (2011) 1.42
Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data. Circ Res (2014) 1.32
Human gene copy number spectra analysis in congenital heart malformations. Physiol Genomics (2012) 1.30
1q21.1 Microduplication expression in adults. Genet Med (2012) 1.25
The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left heart disease. Hum Genet (2013) 1.15
Effect of copy number variants on outcomes for infants with single ventricle heart defects. Circ Cardiovasc Genet (2013) 1.11
The causality of de novo copy number variants is overestimated. Eur J Hum Genet (2011) 1.10
Of mice and men: molecular genetics of congenital heart disease. Cell Mol Life Sci (2013) 1.10
Genetic basis of congenital cardiovascular malformations. Eur J Med Genet (2014) 1.00
Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield. BMC Genomics (2014) 0.88
Ultra high-resolution gene centric genomic structural analysis of a non-syndromic congenital heart defect, Tetralogy of Fallot. PLoS One (2014) 0.82
Genome-wide copy number variant analysis for congenital ventricular septal defects in Chinese Han population. BMC Med Genomics (2016) 0.81
Cytogenomic Aberrations in Congenital Cardiovascular Malformations. Mol Syndromol (2016) 0.79
Cytogenomic Evaluation of Subjects with Syndromic and Nonsyndromic Conotruncal Heart Defects. Biomed Res Int (2015) 0.79
The Role of the Geneticist and Genetic Counselor in an ACHD Clinic. Prog Pediatr Cardiol (2012) 0.77
Chromosome microarray analysis in the investigation of children with congenital heart disease. BMC Pediatr (2017) 0.75
Genetic Evaluation and Use of Chromosome Microarray in Patients with Isolated Heart Defects: Benefits and Challenges of a New Model in Cardiovascular Care. Front Cardiovasc Med (2016) 0.75
The Current Landscape of Genetic Testing in Cardiovascular Malformations: Opportunities and Challenges. Front Cardiovasc Med (2016) 0.75
"FISHed" out the diagnosis: A case of DiGeorge syndrome. J Postgrad Med (2016) 0.75
Current Practice and Utility of Chromosome Microarray Analysis in Infants Undergoing Cardiac Surgery. Congenit Heart Dis (2014) 0.75
Genetic Testing Protocol Reduces Costs and Increases Rate of Genetic Diagnosis in Infants with Congenital Heart Disease. Pediatr Cardiol (2017) 0.75
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med (2008) 10.88
Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. N Engl J Med (2014) 4.70
The dynamics of genome-wide DNA methylation reprogramming in mouse primordial germ cells. Mol Cell (2012) 4.32
Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science (2008) 4.04
Early insulin therapy in very-low-birth-weight infants. N Engl J Med (2008) 3.51
Neurocognitive development of children 4 years after critical illness and treatment with tight glucose control: a randomized controlled trial. JAMA (2012) 3.16
Prevalence and determinants of hyperglycemia in very low birth weight infants: cohort analyses of the NIRTURE study. J Pediatr (2010) 2.50
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
Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1. Lancet Oncol (2009) 2.32
Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome). Am J Hum Genet (2007) 2.22
Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia. Am J Hum Genet (2003) 2.10
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
Elements of morphology: standard terminology for the lips, mouth, and oral region. Am J Med Genet A (2009) 1.96
Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease. Am J Hum Genet (2012) 1.92
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan. Nat Genet (2012) 1.90
Transcatheter closure of congenital ventricular septal defects: results of the European Registry. Eur Heart J (2007) 1.89
To tell or not to tell? A systematic review of ethical reflections on incidental findings arising in genetics contexts. Eur J Hum Genet (2012) 1.82
Population clinical pharmacology of children: modelling covariate effects. Eur J Pediatr (2006) 1.79
VEGF: a modifier of the del22q11 (DiGeorge) syndrome? Nat Med (2003) 1.79
Single-cell chromosomal imbalances detection by array CGH. Nucleic Acids Res (2006) 1.78
Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia. Nat Genet (2009) 1.75
The role of population PK-PD modelling in paediatric clinical research. Eur J Clin Pharmacol (2010) 1.71
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome. Nat Genet (2012) 1.70
Congenital veno-venous malformations of the liver: widely variable clinical presentations. J Gastroenterol Hepatol (2007) 1.68
Nail-patella syndrome, infantile nephrotic syndrome: complete remission with antiproteinuric treatment. Nephrol Dial Transplant (2009) 1.57
Temporal trends in survival to adulthood among patients born with congenital heart disease from 1970 to 1992 in Belgium. Circulation (2010) 1.57
Population clinical pharmacology of children: general principles. Eur J Pediatr (2006) 1.54
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
Prophylactic ibuprofen in premature infants: a multicentre, randomised, double-blind, placebo-controlled trial. Lancet (2004) 1.53
Secondary variants--in defense of a more fitting term in the incidental findings debate. Eur J Hum Genet (2013) 1.53
The Fontan circulation: who controls cardiac output? Interact Cardiovasc Thorac Surg (2009) 1.52
Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability. Am J Hum Genet (2012) 1.51
Vancomycin pharmacokinetics in preterm neonates and the prediction of adult clearance. Br J Clin Pharmacol (2006) 1.49
Perinatal growth characteristics and associated risk of developing threshold retinopathy of prematurity. J AAPOS (2003) 1.47
Bailout stenting for critical coarctation in premature/critical/complex/early recoarcted neonates. Catheter Cardiovasc Interv (2010) 1.47
Individualized dosing of aminoglycosides in neonates: mission accomplished or work in progress? Eur J Clin Pharmacol (2009) 1.46
Procedural sedation of neonates with chloral hydrate: a sedation procedure does not end at the end of the acquisition of the images. Paediatr Anaesth (2008) 1.45
Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome. Nat Genet (2011) 1.43
A modified technique of stent fenestration of the interatrial septum improves patients with pulmonary hypertension. Catheter Cardiovasc Interv (2009) 1.42
MLL2 mutation spectrum in 45 patients with Kabuki syndrome. Hum Mutat (2010) 1.41
Stent expansion of stretch Gore-Tex grafts in children with congenital heart lesions. Catheter Cardiovasc Interv (2010) 1.40
Fine-scale mapping of the FGFR2 breast cancer risk locus: putative functional variants differentially bind FOXA1 and E2F1. Am J Hum Genet (2013) 1.39
Doubly committed ventricular septal defect: single-centre experience and midterm follow-up. Cardiology (2011) 1.39
Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. J Med Genet (2013) 1.39
Large deletions of the APC gene in 15% of mutation-negative patients with classical polyposis (FAP): a Belgian study. Hum Mutat (2005) 1.39
Pericardial effusion in the first trimester of pregnancy. Prenat Diagn (2011) 1.38
The EPIBEL study: outcomes to discharge from hospital for extremely preterm infants in Belgium. Pediatrics (2004) 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
Atypical neurofibromas in neurofibromatosis type 1 are premalignant tumors. Genes Chromosomes Cancer (2011) 1.36
Deletion and point mutations of PTHLH cause brachydactyly type E. Am J Hum Genet (2010) 1.35
Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls. Hum Mol Genet (2011) 1.35
A molecular and clinical study of Larsen syndrome caused by mutations in FLNB. J Med Genet (2006) 1.34
NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects. PLoS Genet (2007) 1.30
The C20orf133 gene is disrupted in a patient with Kabuki syndrome. J Med Genet (2007) 1.28
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
Array CGH analysis in primary gastrointestinal stromal tumors: cytogenetic profile correlates with anatomic site and tumor aggressiveness, irrespective of mutational status. Genes Chromosomes Cancer (2007) 1.27
Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet (2012) 1.25
An unbiased evaluation of gene prioritization tools. Bioinformatics (2012) 1.25
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
Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome. Am J Hum Genet (2012) 1.22
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. Hum Mol Genet (2013) 1.22
Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes. Hum Mutat (2010) 1.21
Fine-grained facial phenotype-genotype analysis in Wolf-Hirschhorn syndrome. Eur J Hum Genet (2011) 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
Oxygen-induced retinopathy in mice: amplification by neonatal IGF-I deficit and attenuation by IGF-I administration. Pediatr Res (2009) 1.20
Investigating the influence of maternal cortisol and emotional state during pregnancy on the DNA methylation status of the glucocorticoid receptor gene (NR3C1) promoter region in cord blood. J Psychiatr Res (2013) 1.20
Percutaneous closure of a persistent left superior vena cava connected to the left atrium. Int J Cardiol (2006) 1.18
Early motor development in young children with 22q.11 deletion syndrome and a conotruncal heart defect. Dev Med Child Neurol (2005) 1.17
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. Am J Med Genet A (2015) 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
Network analysis of differential expression for the identification of disease-causing genes. PLoS One (2009) 1.14
Mapping biomedical concepts onto the human genome by mining literature on chromosomal aberrations. Nucleic Acids Res (2007) 1.14
Congenital heart disease in 111 225 births in Belgium: birth prevalence, treatment and survival in the 21st century. Acta Paediatr (2008) 1.14
MR coronary angiography and late-enhancement myocardial MR in children who underwent arterial switch surgery for transposition of great arteries. Radiology (2004) 1.12
Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders. Hum Mol Genet (2013) 1.12
Acute cardiac functional and morphological changes after Anthracycline infusions in children. Am J Cardiol (2007) 1.12
Premature foetal closure of the arterial duct: clinical presentations and outcome. Eur Heart J (2009) 1.11
Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion. J Med Genet (2011) 1.10
Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy. Am J Hum Genet (2012) 1.10
The causality of de novo copy number variants is overestimated. Eur J Hum Genet (2011) 1.10
Maturation of the glomerular filtration rate in neonates, as reflected by amikacin clearance. Clin Pharmacokinet (2012) 1.10
Remifentanil in neonates: a promising compound in search of its indications? Pediatr Neonatol (2012) 1.08
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