Published in Am J Med Genet on September 15, 1991
Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1. Am J Hum Genet (1999) 1.56
The rare association of tetralogy of Fallot with hypertrophic cardiomyopathy. Report of 2 neonatal patients. Tex Heart Inst J (1997) 0.82
A rare interstitial duplication of 8q22.1-8q24.3 associated with syndromic bilateral cleft lip/palate. Case Rep Dent (2014) 0.75
SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell (1995) 7.73
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation (2000) 7.50
Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias. Circulation (2001) 7.47
Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. Nature (1998) 7.26
Effectiveness and limitations of beta-blocker therapy in congenital long-QT syndrome. Circulation (2000) 5.09
Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent. Circ Res (1999) 4.57
Long QT syndrome patients with mutations of the SCN5A and HERG genes have differential responses to Na+ channel blockade and to increases in heart rate. Implications for gene-specific therapy. Circulation (1995) 4.48
Sodium channel blockers identify risk for sudden death in patients with ST-segment elevation and right bundle branch block but structurally normal hearts. Circulation (2000) 3.99
ECG T-wave patterns in genetically distinct forms of the hereditary long QT syndrome. Circulation (1995) 3.79
Influence of genotype on the clinical course of the long-QT syndrome. International Long-QT Syndrome Registry Research Group. N Engl J Med (1998) 3.41
Chromosomal imbalance in the Aniridia-Wilms' tumor association: 11p interstitial deletion. Pediatrics (1978) 3.04
Proposed diagnostic criteria for the Brugada syndrome. Eur Heart J (2002) 3.01
Spectrum of ST-T-wave patterns and repolarization parameters in congenital long-QT syndrome: ECG findings identify genotypes. Circulation (2000) 2.95
DNA microextraction from dried blood spots on filter paper blotters: potential applications to newborn screening. Hum Genet (1987) 2.90
Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome. JAMA (2001) 2.89
Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics. Am J Hum Genet (2000) 2.67
An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita. Nature (1994) 2.57
The Brugada syndrome: clinical, electrophysiologic and genetic aspects. J Am Coll Cardiol (1999) 2.56
Age- and sex-related differences in clinical manifestations in patients with congenital long-QT syndrome: findings from the International LQTS Registry. Circulation (1998) 2.53
X-linked dilated cardiomyopathy. Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus. Circulation (1993) 2.30
Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome. Circulation (2001) 2.24
Gene-specific response of dynamic ventricular repolarization to sympathetic stimulation in LQT1, LQT2 and LQT3 forms of congenital long QT syndrome. Eur Heart J (2002) 2.17
Linkage heterogeneity of autosomal dominant polycystic kidney disease. N Engl J Med (1988) 2.16
Molecular genetic diagnosis of sickle cell disease using dried blood specimens on blotters used for newborn screening. Hum Genet (1989) 2.11
Human herpes virus 6 in archival cardiac tissues from children with idiopathic dilated cardiomyopathy or congenital heart disease. J Clin Pathol (2008) 2.07
Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy. J Clin Invest (2000) 1.91
KCNE1 mutations cause jervell and Lange-Nielsen syndrome. Nat Genet (1997) 1.90
Duty to re-contact. Genet Med (2001) 1.80
A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal. Nat Genet (1994) 1.78
Association of viral genome with graft loss in children after cardiac transplantation. N Engl J Med (2001) 1.78
Evidence for a dystrophin missense mutation as a cause of X-linked dilated cardiomyopathy. Circulation (1997) 1.76
Detection of microorganisms in the tracheal aspirates of preterm infants by polymerase chain reaction: association of adenovirus infection with bronchopulmonary dysplasia. Pediatr Res (2000) 1.72
Guidelines for the retention, storage, and use of residual dried blood spot samples after newborn screening analysis: statement of the Council of Regional Networks for Genetic Services. Biochem Mol Med (1996) 1.72
Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions. Am J Hum Genet (1987) 1.72
Subacute postictal aggression. Neurology (1998) 1.68
Prevalence of K329E mutation in medium-chain acyl-CoA dehydrogenase gene determined from Guthrie cards. Lancet (1991) 1.66
Failure to detect connexin43 mutations in 38 cases of sporadic and familial heterotaxy. Circulation (1996) 1.65
Design and implementation of the North American Pediatric Cardiomyopathy Registry. Am Heart J (2000) 1.65
Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene. Am J Med Genet (1996) 1.65
Two long QT syndrome loci map to chromosomes 3 and 7 with evidence for further heterogeneity. Nat Genet (1994) 1.55
New mutations in the KVLQT1 potassium channel that cause long-QT syndrome. Circulation (1998) 1.53
Homotransplantation of the liver in a patient with hepatoma and hereditary tyrosinemia. J Pediatr (1978) 1.53
Duchenne muscular dystrophy: deficiency of dystrophin-associated proteins in the sarcolemma. Neurology (1993) 1.52
Cloning and functional expression in yeast of two human isoforms of the outer mitochondrial membrane channel, the voltage-dependent anion channel. J Biol Chem (1993) 1.46
Familial inclusion body myositis: evidence for autosomal dominant inheritance. Neurology (1992) 1.46
Use of the polymerase chain reaction for physical mapping of Escherichia coli genes. J Bacteriol (1991) 1.45
Genetic and molecular basis of cardiac arrhythmias: impact on clinical management parts I and II. Circulation (1999) 1.44
The "final common pathway" hypothesis and inherited cardiovascular disease. The role of cytoskeletal proteins in dilated cardiomyopathy. Herz (2000) 1.42
Modifier genes convert "simple" Mendelian disorders to complex traits. Mol Genet Metab (2000) 1.39
Closed head injury resulting in paradoxical improvement of a seizure disorder. Seizure (2000) 1.39
Perinatal hypophosphatasia: tissue levels of vitamin B6 are unremarkable despite markedly increased circulating concentrations of pyridoxal-5'-phosphate. Evidence for an ectoenzyme role for tissue-nonspecific alkaline phosphatase. J Clin Invest (1988) 1.37
Sudden death and cardiovascular collapse in children with restrictive cardiomyopathy. Circulation (2000) 1.36
Pulmonary arteriovenous malformation in the newborn: a familial case. Pediatr Cardiol (1993) 1.35
Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrum of congenital heart defects. Circulation (2000) 1.32
Neuropsychology of early-treated phenylketonuria: specific executive function deficits. Child Dev (1990) 1.31
Genetic and molecular basis of cardiac arrhythmias; impact on clinical management. Study group on molecular basis of arrhythmias of the working group on arrhythmias of the european society of cardiology. Eur Heart J (1999) 1.29
Familial hypertrophic cardiomyopathy in maine coon cats: an animal model of human disease. Circulation (1999) 1.28
Left-right axis malformations associated with mutations in ACVR2B, the gene for human activin receptor type IIB. Am J Med Genet (1999) 1.27
Comparison of clinical and genetic variables of cardiac events associated with loud noise versus swimming among subjects with the long QT syndrome. Am J Cardiol (1999) 1.25
Bacterial species identification after DNA amplification with a universal primer pair. Mol Genet Metab (1999) 1.25
Prolongation of the QT interval and the sudden infant death syndrome. N Engl J Med (1998) 1.20
Porin interaction with hexokinase and glycerol kinase: metabolic microcompartmentation at the outer mitochondrial membrane. Biochem Med Metab Biol (1991) 1.18
Viral infection of the myocardium in endocardial fibroelastosis. Molecular evidence for the role of mumps virus as an etiologic agent. Circulation (1997) 1.17
Targeting of hexokinase 1 to liver and hepatoma mitochondria. Proc Natl Acad Sci U S A (1992) 1.17
Frontonasal dysplasia with coronal craniosynostosis in three sibs. Birth Defects Orig Artic Ser (1979) 1.17
Glycerol kinase deficiency with neuromuscular, skeletal, and adrenal abnormalities. Ann Neurol (1980) 1.15
Newborn screening for phenylketonuria: predictive validity as a function of age. Pediatrics (1983) 1.14
Nutritional deficits exist before 2 months of age in some infants with cystic fibrosis identified by screening test. J Pediatr (1984) 1.13
Neurofibromatosis type 1 and pregnancy. Am J Med Genet (1996) 1.12
RNA analysis from newborn screening dried blood specimens. Hum Genet (1992) 1.12
Familial amniotic bands. Am J Med Genet (1983) 1.12
Sympathetic stimulation produces a greater increase in both transmural and spatial dispersion of repolarization in LQT1 than LQT2 forms of congenital long QT syndrome. J Am Coll Cardiol (2001) 1.12
Genetic and molecular basis of cardiac arrhythmias: impact on clinical management part III. Circulation (1999) 1.11
Detection of adenoviral genome in the myocardium of adult patients with idiopathic left ventricular dysfunction. Circulation (1999) 1.11
Benign extra-axial collections of infancy. Pediatr Neurosci (1987) 1.11
Expression of DAX-1, the gene responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism, in the hypothalamic-pituitary-adrenal/gonadal axis. Biochem Mol Med (1995) 1.11
Association of parvovirus B19 genome in children with myocarditis and cardiac allograft rejection: diagnosis using the polymerase chain reaction. Circulation (1997) 1.10
Glycerol kinase deficiency: evidence for complexity in a single gene disorder. Hum Genet (2001) 1.10
Overo lethal white foal syndrome: equine model of aganglionic megacolon (Hirschsprung disease). Am J Med Genet (1990) 1.10
Neuropsychological deficits in early treated phenylketonuric children. Am J Ment Defic (1985) 1.08
Improvement of repolarization abnormalities by a K+ channel opener in the LQT1 form of congenital long-QT syndrome. Circulation (1998) 1.08
Multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II) with transient hypersarcosinemia and sarcosinuria; possible inherited deficiency of an electron transfer flavoprotein. Pediatr Res (1980) 1.07
Consequences of complexity within biological networks: robustness and health, or vulnerability and disease. Mol Genet Metab (2001) 1.07
Human genes encoding the voltage-dependent anion channel (VDAC) of the outer mitochondrial membrane: mapping and identification of two new isoforms. Genomics (1994) 1.06
Human beta-mannosidase deficiency. N Engl J Med (1986) 1.06
Gene mapping of familial autosomal dominant dilated cardiomyopathy to chromosome 10q21-23. J Clin Invest (1996) 1.06
IMAGe, a new clinical association of intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies. J Clin Endocrinol Metab (1999) 1.05
20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficits. J Med Genet (2008) 1.04
Amplification of bacterial DNA using highly conserved sequences: automated analysis and potential for molecular triage of sepsis. Pediatrics (1995) 1.04
Possible association of the human KCNE1 (minK) gene and QT interval in healthy subjects: evidence from association and linkage analyses in Israeli families. Ann Hum Genet (2005) 1.02
Neurofibromatosis 2, radiosurgery and malignant nervous system tumours. Br J Cancer (2000) 1.02
Etiologies of cardiomyopathy and heart failure. Nat Med (1999) 1.02
Outcome of cardiac transplantation in children. Survival in a contemporary multi-institutional experience. Pediatric Heart Transplant Study. Circulation (1996) 1.01
Age-gender influence on the rate-corrected QT interval and the QT-heart rate relation in families with genotypically characterized long QT syndrome. J Am Coll Cardiol (1997) 1.01
Familial ventricular arrhythmias in boxers. J Vet Intern Med (1999) 1.01
Mammalian sex determination: from gonads to brain. Mol Genet Metab (1998) 1.01
Genotypic confirmation from the original dried blood specimens in a neonatal hemoglobinopathy screening program. Pediatr Res (1992) 1.01
Echocardiographic predictors of adverse clinical events in children with dilated cardiomyopathy: a prospective clinical study. Heart (2004) 1.00
Genomic sequence of the DAX1 gene: an orphan nuclear receptor responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. J Clin Endocrinol Metab (1996) 1.00