Published in Eur J Pediatr on August 18, 2007
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Keratoconus in an adult with 22q11.2 deletion syndrome. BMJ Case Rep (2015) 0.75
A case of 22q11.2 deletion syndrome with Peters anomaly, congenital glaucoma, and heterozygous mutation in CYP1B1. Ophthalmic Genet (2013) 0.75
Visual perception and processing in children with 22q11.2 deletion syndrome: associations with social cognition measures of face identity and emotion recognition. J Neurodev Disord (2016) 0.75
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet (1997) 6.85
A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome. Cleft Palate J (1978) 4.23
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Variable phenotypes in velocardiofacial syndrome with chromosomal deletion. J Pediatr (1993) 1.38
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Deletion in chromosome region 22q11 in a child with CHARGE association. Clin Genet (1998) 1.09
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Radial aplasia and chromosome 22q11 deletion. J Med Genet (1997) 0.89
Unilateral Peters' anomaly in a patient with DiGeorge syndrome. J Pediatr Ophthalmol Strabismus (2005) 0.85
Ocular findings in the chromosome 22q11.2 deletion syndrome. J AAPOS (2006) 0.81
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An expanded role of the neural crest in oral and pharyngeal development. Symp Oral Sens Percept (1973) 0.75
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Optometric findings in velocardiofacial syndrome. Optom Vis Sci (1997) 0.75
Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science (2008) 4.04
Neurocognitive development of children 4 years after critical illness and treatment with tight glucose control: a randomized controlled trial. JAMA (2012) 3.16
Practical guidelines for managing patients with 22q11.2 deletion syndrome. J Pediatr (2011) 2.57
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
Psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome: results from the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome. Am J Psychiatry (2014) 2.15
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
VEGF: a modifier of the del22q11 (DiGeorge) syndrome? Nat Med (2003) 1.79
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
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
Secondary variants--in defense of a more fitting term in the incidental findings debate. Eur J Hum Genet (2013) 1.53
Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability. Am J Hum Genet (2012) 1.51
Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome. Hum Mol Genet (2006) 1.50
Bailout stenting for critical coarctation in premature/critical/complex/early recoarcted neonates. Catheter Cardiovasc Interv (2010) 1.47
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
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
Pericardial effusion in the first trimester of pregnancy. Prenat Diagn (2011) 1.38
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
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
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
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
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
Array comparative genomic hybridization as a diagnostic tool for syndromic heart defects. J Pediatr (2010) 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
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
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
Congenital heart disease in 111 225 births in Belgium: birth prevalence, treatment and survival in the 21st century. Acta Paediatr (2008) 1.14
Network analysis of differential expression for the identification of disease-causing genes. PLoS One (2009) 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
Acute cardiac functional and morphological changes after Anthracycline infusions in children. Am J Cardiol (2007) 1.12
Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion. J Med Genet (2011) 1.10
The causality of de novo copy number variants is overestimated. Eur J Hum Genet (2011) 1.10
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
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
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
Mathematical learning disabilities in children with 22q11.2 deletion syndrome: a review. Dev Disabil Res Rev (2009) 1.02
Progressive AV-block and anomalous venous return among cardiac anomalies associated with two novel missense mutations in the CSX/NKX2-5 gene. Hum Mutat (2002) 1.02
Quantification of regional right and left ventricular function by ultrasonic strain rate and strain indexes after surgical repair of tetralogy of Fallot. Am J Cardiol (2002) 1.01
Ultrasonic strain rate and strain imaging of the right ventricle in children before and after percutaneous closure of an atrial septal defect. J Am Soc Echocardiogr (2006) 1.01
The Contegra conduit in the right ventricular outflow tract induces supravalvular stenosis. J Thorac Cardiovasc Surg (2004) 1.01
Novel mutation in the Per-Arnt-Sim domain of KCNH2 causes a malignant form of long-QT syndrome. Circulation (2005) 1.00
What Limits Cardiac Performance during Exercise in Normal Subjects and in Healthy Fontan Patients? Int J Pediatr (2010) 0.99
Recent developments in the genetic factors underlying congenital diaphragmatic hernia. Fetal Diagn Ther (2010) 0.97
Interstitial 6q deletion: clinical and array CGH characterisation of a new patient. Eur J Med Genet (2005) 0.97
Atypical findings in three patients with Pai syndrome and literature review. Am J Med Genet A (2012) 0.96
A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies. Am J Med Genet A (2007) 0.96
Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes. Am J Hum Genet (2013) 0.96
Intra-cardiac echocardiography in atrial septal interventions: impact on hospitalization costs. Acta Cardiol (2010) 0.96
Early complications of stenting in patients with congenital heart disease: a multicentre study. Eur Heart J (2006) 0.96
Late post-repair ventricular function in patients with origin of the left main coronary artery from the pulmonary trunk. Am J Cardiol (2004) 0.95
The effect of bosentan in patients with a failing Fontan circulation. Cardiol Young (2009) 0.95
Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1. Am J Med Genet A (2012) 0.95
Genetic counseling for susceptibility loci and neurodevelopmental disorders: the del15q11.2 as an example. Am J Med Genet A (2013) 0.94
Detection of heterozygous SALL1 deletions by quantitative real time PCR proves the contribution of a SALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome. Hum Mutat (2006) 0.93
Transventricular balloon dilation and stenting of the RVOT in small infants with tetralogy of fallot with pulmonary atresia. Catheter Cardiovasc Interv (2013) 0.93
Defining a holoprosencephaly locus on human chromosome 14q13 and characterization of potential candidate genes. Genomics (2005) 0.93
Mutation analysis in congenital Long QT Syndrome--a case with missense mutations in KCNQ1 and SCN5A. Genet Test (2003) 0.93
Behavior of unrepaired perimembranous ventricular septal defect in young adults. Am J Cardiol (2009) 0.92
High frequency of submicroscopic chromosomal deletions in patients with idiopathic congenital eye malformations. Am J Ophthalmol (2011) 0.92
Collaboratively charting the gene-to-phenotype network of human congenital heart defects. Genome Med (2010) 0.92
No evidence for a parental inversion polymorphism predisposing to rearrangements at 22q11.2 in the DiGeorge/Velocardiofacial syndrome. Eur J Hum Genet (2003) 0.92
The influence of pulmonary regurgitation on regional right ventricular function in children after surgical repair of tetralogy of Fallot. Eur J Echocardiogr (2010) 0.92
A novel genomic disorder: a deletion of the SACS gene leading to spastic ataxia of Charlevoix-Saguenay. Eur J Hum Genet (2008) 0.91
Targeted array comparative genomic hybridisation (array CGH) identifies genomic imbalances associated with isolated congenital diaphragmatic hernia (CDH). Prenat Diagn (2010) 0.91
A microdeletion proximal of the critical deletion region is associated with mild Wolf-Hirschhorn syndrome. Am J Med Genet A (2012) 0.91
Sildenafil improves exercise hemodynamics in Fontan patients. Circ Cardiovasc Imaging (2014) 0.90
The motor profile of primary school-age children with a 22q11.2 deletion syndrome (22q11.2DS) and an age- and IQ-matched control group. Child Neuropsychol (2009) 0.90
Limb anomalies in patients with CHARGE syndrome: an expansion of the phenotype. Am J Med Genet A (2007) 0.90
Transfer of adolescents with congenital heart disease from pediatric cardiology to adult health care: an analysis of transfer destinations. J Am Coll Cardiol (2011) 0.90
Homograft survival after tetralogy of Fallot repair: determinants of accelerated homograft degeneration. Eur Heart J (2007) 0.90