Published in Genet Test on January 01, 2003
Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy. Clin Transl Sci (2008) 2.17
Epidemiologic, molecular, and functional evidence suggest A572D-SCN5A should not be considered an independent LQT3-susceptibility mutation. Heart Rhythm (2010) 1.76
Common candidate gene variants are associated with QT interval duration in the general population. J Intern Med (2009) 1.35
Ca2+/calmodulin-dependent protein kinase II-based regulation of voltage-gated Na+ channel in cardiac disease. Circulation (2012) 1.31
Long QT syndrome in South Africa: the results of comprehensive genetic screening. Cardiovasc J Afr (2013) 0.94
Toward a hierarchy of mechanisms in CaMKII-mediated arrhythmia. Front Pharmacol (2014) 0.79
Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2. BMC Med Genet (2014) 0.76
A diarylquinoline drug active on the ATP synthase of Mycobacterium tuberculosis. Science (2004) 13.04
Neurocognitive development of children 4 years after critical illness and treatment with tight glucose control: a randomized controlled trial. JAMA (2012) 3.16
Genetic and physiological data implicating the new human gene G72 and the gene for D-amino acid oxidase in schizophrenia. Proc Natl Acad Sci U S A (2002) 3.11
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Nat Genet (2007) 3.02
Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles. Am J Hum Genet (2003) 2.71
Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients. J Mol Med (Berl) (2004) 2.68
Multiple phenotypes in phosphoglucomutase 1 deficiency. N Engl J Med (2014) 2.62
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
Congenital disorders of glycosylation: a rapidly expanding disease family. Annu Rev Genomics Hum Genet (2007) 2.12
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
Returning genetic research results to individuals: points-to-consider. Bioethics (2006) 2.01
Legal uncertainty in the area of genetic diagnostic testing. Nat Biotechnol (2009) 2.00
Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease. Am J Hum Genet (2012) 1.92
Alterations in expression of p11 and SERT in mucosal biopsy specimens of patients with irritable bowel syndrome. Gastroenterology (2006) 1.91
Transcatheter closure of congenital ventricular septal defects: results of the European Registry. Eur Heart J (2007) 1.89
Models for facilitating access to patents on genetic inventions. Nat Rev Genet (2006) 1.89
Diagnostic guidelines for high-resolution melting curve (HRM) analysis: an interlaboratory validation of BRCA1 mutation scanning using the 96-well LightScanner. Hum Mutat (2009) 1.84
Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation. Am J Hum Genet (2008) 1.82
VEGF: a modifier of the del22q11 (DiGeorge) syndrome? Nat Med (2003) 1.79
Global distribution of the most prevalent deletions causing hypotonia-cystinuria syndrome. Eur J Hum Genet (2007) 1.78
Osteoarthritis and osteoporosis: clinical and research evidence of inverse relationship. Aging Clin Exp Res (2003) 1.75
A standardized framework for the validation and verification of clinical molecular genetic tests. Eur J Hum Genet (2010) 1.70
Congenital veno-venous malformations of the liver: widely variable clinical presentations. J Gastroenterol Hepatol (2007) 1.68
In vitro antimycobacterial spectrum of a diarylquinoline ATP synthase inhibitor. Antimicrob Agents Chemother (2007) 1.68
Limited impact of IL28B genotype on response rates in telaprevir-treated patients with prior treatment failure. J Hepatol (2013) 1.68
Temporal trends in survival to adulthood among patients born with congenital heart disease from 1970 to 1992 in Belgium. Circulation (2010) 1.57
Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II. Proc Natl Acad Sci U S A (2006) 1.56
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
Quantitation of pretreatment serum interferon-γ-inducible protein-10 improves the predictive value of an IL28B gene polymorphism for hepatitis C treatment response. Hepatology (2011) 1.53
CDG nomenclature: time for a change! Biochim Biophys Acta (2009) 1.49
Screening for FMR-1 premutations in 122 older Flemish males presenting with ataxia. Eur J Hum Genet (2005) 1.49
Bailout stenting for critical coarctation in premature/critical/complex/early recoarcted neonates. Catheter Cardiovasc Interv (2010) 1.47
Patenting and licensing in genetic testing: ethical, legal, and social issues. Eur J Hum Genet (2008) 1.45
Minor variant detection in amplicons using 454 massive parallel pyrosequencing: experiences and considerations for successful applications. Biotechniques (2011) 1.45
A modified technique of stent fenestration of the interatrial septum improves patients with pulmonary hypertension. Catheter Cardiovasc Interv (2009) 1.42
A new inborn error of glycosylation due to a Cog8 deficiency reveals a critical role for the Cog1-Cog8 interaction in COG complex formation. Hum Mol Genet (2007) 1.40
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
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
Patent pools and diagnostic testing. Trends Biotechnol (2006) 1.36
Deficiencies in subunits of the Conserved Oligomeric Golgi (COG) complex define a novel group of Congenital Disorders of Glycosylation. Mol Genet Metab (2007) 1.33
Detailed glycan analysis of serum glycoproteins of patients with congenital disorders of glycosylation indicates the specific defective glycan processing step and provides an insight into pathogenesis. Glycobiology (2003) 1.32
Golgi function and dysfunction in the first COG4-deficient CDG type II patient. Hum Mol Genet (2009) 1.32
A novel mutation in the chloride channel gene, CLCNKB, as a cause of Gitelman and Bartter syndromes. Kidney Int (2003) 1.31
DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy. Ann Neurol (2012) 1.29
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
Potential ethnic modifiers in the assessment and treatment of Alzheimer's disease: challenges for the future. Int Psychogeriatr (2007) 1.27
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
Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2). Hum Mutat (2005) 1.23
A novel mutation (T65P) in the PAS domain of the human potassium channel HERG results in the long QT syndrome by trafficking deficiency. J Biol Chem (2002) 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
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
Percutaneous closure of a persistent left superior vena cava connected to the left atrium. Int J Cardiol (2006) 1.18
Characterization of an orphan G protein-coupled receptor localized in the dorsal root ganglia reveals adenine as a signaling molecule. Proc Natl Acad Sci U S A (2002) 1.18
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
Early motor development in young children with 22q.11 deletion syndrome and a conotruncal heart defect. Dev Med Child Neurol (2005) 1.17
Targeted disruption of the mouse phosphomannomutase 2 gene causes early embryonic lethality. Mol Cell Biol (2006) 1.15
Congenital disorders of glycosylation: a review. Pediatr Res (2002) 1.15
A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia. Eur J Hum Genet (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
Acute cardiac functional and morphological changes after Anthracycline infusions in children. Am J Cardiol (2007) 1.12
Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome. Am J Hum Genet (2005) 1.11
Unusual presentation of congenital disorder of glycosylation type 1a: congenital persistent thrombocytopenia, hypertrophic cardiomyopathy and hydrops-like aspect due to marked peripheral oedema. Eur J Pediatr (2005) 1.10
Study of genotypic and phenotypic HIV-1 dynamics of integrase mutations during raltegravir treatment: a refined analysis by ultra-deep 454 pyrosequencing. J Infect Dis (2012) 1.09
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
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
Patenting genes. BMJ (2004) 1.08
Gene and genetic diagnostic method patent claims: a comparison under current European and US patent law. Eur J Hum Genet (2011) 1.07
Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik. Hum Mol Genet (2004) 1.07
How Golgi glycosylation meets and needs trafficking: the case of the COG complex. Glycobiology (2010) 1.07
Ultra-deep sequencing of HIV-1 reverse transcriptase before start of an NNRTI-based regimen in treatment-naive patients. Virology (2012) 1.05
Clericuzio type poikiloderma with neutropenia is distinct from Rothmund-Thomson syndrome. Am J Med Genet A (2005) 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
Different substitutions at residue D218 of the X-linked transcription factor GATA1 lead to altered clinical severity of macrothrombocytopenia and anemia and are associated with variable skewed X inactivation. Hum Mol Genet (2002) 1.03
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
Newly characterized Golgi-localized family of proteins is involved in calcium and pH homeostasis in yeast and human cells. Proc Natl Acad Sci U S A (2013) 1.02
Dissecting the role of sodium currents in visceral sensory neurons in a model of chronic hyperexcitability using Nav1.8 and Nav1.9 null mice. J Physiol (2006) 1.01
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
Phosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathway. Am J Hum Genet (2007) 1.00
Novel mutation in the Per-Arnt-Sim domain of KCNH2 causes a malignant form of long-QT syndrome. Circulation (2005) 1.00
Differential effects of lobe A and lobe B of the Conserved Oligomeric Golgi complex on the stability of {beta}1,4-galactosyltransferase 1 and {alpha}2,6-sialyltransferase 1. Glycobiology (2010) 1.00
CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features. Am J Med Genet A (2005) 1.00
PhRMA white paper on ADME pharmacogenomics. J Clin Pharmacol (2008) 0.99