PubRank

J A Towbin

Author PubWeight™ 171.65‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell 1995 7.73
2 Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation 2000 7.50
3 Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias. Circulation 2001 7.47
4 Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. Nature 1998 7.26
5 Effectiveness and limitations of beta-blocker therapy in congenital long-QT syndrome. Circulation 2000 5.09
6 Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent. Circ Res 1999 4.57
7 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
8 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
9 ECG T-wave patterns in genetically distinct forms of the hereditary long QT syndrome. Circulation 1995 3.79
10 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
11 Proposed diagnostic criteria for the Brugada syndrome. Eur Heart J 2002 3.01
12 Spectrum of ST-T-wave patterns and repolarization parameters in congenital long-QT syndrome: ECG findings identify genotypes. Circulation 2000 2.95
13 Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome. JAMA 2001 2.89
14 The Brugada syndrome: clinical, electrophysiologic and genetic aspects. J Am Coll Cardiol 1999 2.56
15 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
16 Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome. Circulation 2001 2.24
17 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
18 Human herpes virus 6 in archival cardiac tissues from children with idiopathic dilated cardiomyopathy or congenital heart disease. J Clin Pathol 2008 2.07
19 Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy. J Clin Invest 2000 1.91
20 KCNE1 mutations cause jervell and Lange-Nielsen syndrome. Nat Genet 1997 1.90
21 Association of viral genome with graft loss in children after cardiac transplantation. N Engl J Med 2001 1.78
22 Evidence for a dystrophin missense mutation as a cause of X-linked dilated cardiomyopathy. Circulation 1997 1.76
23 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
24 Subacute postictal aggression. Neurology 1998 1.68
25 Failure to detect connexin43 mutations in 38 cases of sporadic and familial heterotaxy. Circulation 1996 1.65
26 Design and implementation of the North American Pediatric Cardiomyopathy Registry. Am Heart J 2000 1.65
27 Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene. Am J Med Genet 1996 1.65
28 Two long QT syndrome loci map to chromosomes 3 and 7 with evidence for further heterogeneity. Nat Genet 1994 1.55
29 New mutations in the KVLQT1 potassium channel that cause long-QT syndrome. Circulation 1998 1.53
30 Duchenne muscular dystrophy: deficiency of dystrophin-associated proteins in the sarcolemma. Neurology 1993 1.52
31 Genetic and molecular basis of cardiac arrhythmias: impact on clinical management parts I and II. Circulation 1999 1.44
32 The "final common pathway" hypothesis and inherited cardiovascular disease. The role of cytoskeletal proteins in dilated cardiomyopathy. Herz 2000 1.42
33 Closed head injury resulting in paradoxical improvement of a seizure disorder. Seizure 2000 1.39
34 Sudden death and cardiovascular collapse in children with restrictive cardiomyopathy. Circulation 2000 1.36
35 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
36 Familial hypertrophic cardiomyopathy in maine coon cats: an animal model of human disease. Circulation 1999 1.28
37 Left-right axis malformations associated with mutations in ACVR2B, the gene for human activin receptor type IIB. Am J Med Genet 1999 1.27
38 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
39 Prolongation of the QT interval and the sudden infant death syndrome. N Engl J Med 1998 1.20
40 Viral infection of the myocardium in endocardial fibroelastosis. Molecular evidence for the role of mumps virus as an etiologic agent. Circulation 1997 1.17
41 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
42 Genetic and molecular basis of cardiac arrhythmias: impact on clinical management part III. Circulation 1999 1.11
43 Benign extra-axial collections of infancy. Pediatr Neurosci 1987 1.11
44 Detection of adenoviral genome in the myocardium of adult patients with idiopathic left ventricular dysfunction. Circulation 1999 1.11
45 Association of parvovirus B19 genome in children with myocarditis and cardiac allograft rejection: diagnosis using the polymerase chain reaction. Circulation 1997 1.10
46 Improvement of repolarization abnormalities by a K+ channel opener in the LQT1 form of congenital long-QT syndrome. Circulation 1998 1.08
47 Gene mapping of familial autosomal dominant dilated cardiomyopathy to chromosome 10q21-23. J Clin Invest 1996 1.06
48 20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficits. J Med Genet 2008 1.04
49 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
50 Etiologies of cardiomyopathy and heart failure. Nat Med 1999 1.02
51 Familial ventricular arrhythmias in boxers. J Vet Intern Med 1999 1.01
52 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
53 Outcome of cardiac transplantation in children. Survival in a contemporary multi-institutional experience. Pediatric Heart Transplant Study. Circulation 1996 1.01
54 Echocardiographic predictors of adverse clinical events in children with dilated cardiomyopathy: a prospective clinical study. Heart 2004 1.00
55 Intrauterine viral infection at the time of second trimester genetic amniocentesis. Obstet Gynecol 1998 1.00
56 Genetics, molecular mechanisms and management of long QT syndrome. Ann Med 1998 1.00
57 Differentiating anomalous left main coronary artery originating from the pulmonary artery in infants from myocarditis and dilated cardiomyopathy by electrocardiogram. Am J Cardiol 1995 1.00
58 FBN2 mutation associated with manifestations of Marfan syndrome and congenital contractural arachnodactyly. J Med Genet 2004 0.99
59 Detection of intrauterine viral infection using the polymerase chain reaction. Mol Genet Metab 1998 0.97
60 Effect of donor-recipient size mismatch on left ventricular remodeling after pediatric orthotopic heart transplantation. Am J Cardiol 1995 0.96
61 Genomic scanning for expressed sequences in Xp21 identifies the glycerol kinase gene. Nat Genet 1993 0.94
62 Adenovirus infection in the lung results in graft failure after lung transplantation. J Thorac Cardiovasc Surg 1998 0.94
63 Current concepts in long QT syndrome. Pediatr Cardiol 2000 0.94
64 Restrictive cardiomyopathies in childhood. Etiologies and natural history. Tex Heart Inst J 1997 0.94
65 Genomic organization and chromosomal localization of the human Coxsackievirus B-adenovirus receptor gene. Hum Genet 1999 0.94
66 The detection of viral genomes by polymerase chain reaction in the myocardium of pediatric patients with advanced HIV disease. J Am Coll Cardiol 1999 0.93
67 Risk factors for burns as a consequence of seizures in persons with epilepsy. Epilepsia 1994 0.93
68 A genetic etiology for interruption of the aortic arch type B. Am J Cardiol 1997 0.93
69 Molecular aspects of myocarditis. Curr Opin Cardiol 1998 0.92
70 Clinical implications for affected parents and siblings of probands with long-QT syndrome. Circulation 2001 0.92
71 Clinical and genetic variables associated with acute arousal and nonarousal-related cardiac events among subjects with long QT syndrome. Am J Cardiol 2000 0.92
72 Tracheal aspirate as a substrate for polymerase chain reaction detection of viral genome in childhood pneumonia and myocarditis. Circulation 1999 0.92
73 Functional and clinical characterization of a mutation in KCNJ2 associated with Andersen-Tawil syndrome. J Med Genet 2006 0.91
74 Nine polymorphisms within the head and hinge region of the feline cardiac beta-myosin heavy chain gene. Anim Genet 2000 0.91
75 San Luis Valley recombinant chromosome 8 and tetralogy of Fallot: a review of chromosome 8 anomalies and congenital heart disease. Am J Med Genet 1991 0.91
76 Revised fine mapping of the human voltage-dependent anion channel loci by radiation hybrid analysis. Mamm Genome 1999 0.90
77 Altered regional cardiac wall mechanics are associated with differential cardiomyocyte calcium handling due to nebulette mutations in preclinical inherited dilated cardiomyopathy. J Mol Cell Cardiol 2013 0.90
78 Early repolarization syndrome and the Brugada syndrome: forme frustes? Eur Heart J 2001 0.88
79 Fatal Epstein-Barr virus myocarditis in a child with repetitive myocarditis. Pediatr Pathol Lab Med 1996 0.88
80 Transcatheter closure of residual atrial septal defect following cardiac transplantation. Cathet Cardiovasc Diagn 1993 0.88
81 Diagnosis, surveillance, and epidemiologic evaluation of viral infections in pediatric cardiac transplant recipients with the use of the polymerase chain reaction. J Heart Lung Transplant 1996 0.87
82 The molecular basis of long QT syndrome and prospects for therapy. Mol Med Today 1998 0.87
83 Deletion mapping of Aland Island eye disease to Xp21 between DXS67 (B24) and Duchenne muscular dystrophy. Am J Hum Genet 1990 0.86
84 Toward an understanding of the cause of mitral valve prolapse. Am J Hum Genet 1999 0.86
85 Intermediate follow-up of pediatric heart transplant recipients with elevated pulmonary vascular resistance index. J Am Coll Cardiol 1994 0.84
86 Evaluation of the cardiac actin gene in Doberman Pinschers with dilated cardiomyopathy. Am J Vet Res 2001 0.83
87 Molecular screening by polymerase chain reaction detects panleukopenia virus DNA in formalin-fixed hearts from cats with idiopathic cardiomyopathy and myocarditis. Cardiovasc Pathol 2000 0.83
88 Molecular genetics of long QT syndrome from genes to patients. Curr Opin Cardiol 1997 0.82
89 Altered dystrophin expression in the right atrium of a patient after Fontan procedure with atrial flutter. Heart 2004 0.82
90 Molecular biology of arrhythmic syndromes. Curr Opin Cardiol 2000 0.82
91 The rare association of tetralogy of Fallot with hypertrophic cardiomyopathy. Report of 2 neonatal patients. Tex Heart Inst J 1997 0.82
92 Neurologic complications of heart transplantation in children. J Heart Lung Transplant 1992 0.81
93 Homozygous deletion in KVLQT1 associated with Jervell and Lange-Nielsen syndrome. Circulation 1999 0.80
94 Identification of new markers in Xp21 between DXS28 (C7) and DMD. Genomics 1992 0.80
95 Left ventricular noncompaction cardiomyopathy in association with trisomy 13. Pediatr Cardiol 2005 0.80
96 Xp21 contiguous gene syndromes: deletion quantitation with bivariate flow karyotyping allows mapping of patient breakpoints. Am J Hum Genet 1992 0.80
97 Cardiac troponin I: a new diagnostic gold standard of cardiac injury in children? J Pediatr 1997 0.79
98 Yeast artificial chromosome cloning in the glycerol kinase and adrenal hypoplasia congenita region of Xp21. Genomics 1993 0.79
99 Familial right ventricular dysplasia (cardiomyopathy). Pediatr Pathol Lab Med 1997 0.79
100 Fatal intrauterine adenoviral endomyocarditis with aortic and pulmonary valve stenosis: diagnosis by polymerase chain reaction. Hum Pathol 2000 0.79
101 Fontan palliation versus heart transplantation: a comparison of charges. Am Heart J 1996 0.79
102 Construction of a high-resolution physical map of the chromosome 10q22-q23 dilated cardiomyopathy locus and analysis of candidate genes. Genomics 2000 0.79
103 Ventricular tachycardia or conduction disease: what is the mechanism of death associated with SCN5A? J Cardiovasc Electrophysiol 2001 0.78
104 Genetic basis of inherited cardiomyopathies. Curr Opin Cardiol 1995 0.78
105 Long-term results of triple-drug-based immunosuppression in nonneonatal pediatric heart transplant recipients. Transplantation 1998 0.78
106 Long-term follow-up of arrhythmias in pediatric orthotopic heart transplant recipients: incidence and correlation with rejection. J Heart Lung Transplant 2003 0.77
107 Postpericardiotomy syndrome in pediatric heart transplant recipients. Immunologic characteristics. Tex Heart Inst J 1995 0.77
108 Genetic heterogeneity in familial dilated cardiomyopathy. Biochem Mol Med 1995 0.77
109 Cardiac sodium channel gene mutations and sudden infant death syndrome: confirmation of proof of concept? Circulation 2001 0.77
110 Outcomes among pediatric heart transplant recipients. Tex Heart Inst J 1997 0.77
111 X-linked dilated cardiomyopathy. N Engl J Med 1994 0.77
112 Cardiac transplantation for pediatric patients. With inoperable congenital heart disease. Tex Heart Inst J 1998 0.76
113 Nonpulsatile total left ventricular support in pediatric patients. Crit Care Med 1992 0.76
114 A prospective evaluation of nesiritide in the treatment of pediatric heart failure. Pediatr Cardiol 2006 0.76
115 Heart transplantation in an 8-month-old girl. 10th anniversary report. Tex Heart Inst J 1995 0.76
116 Prospects for adenovirus-mediated gene therapy of inherited diseases of the myocardium. Cardiovasc Res 1997 0.76
117 Further associations of congenital heart disease and genetic syndromes: report of a case of tetralogy of Fallot and Fabry's disease. Pediatr Cardiol 1999 0.75
118 Mechanical circulatory support in children. Eur J Cardiothorac Surg 1994 0.75
119 Use of the interactive videodisc to teach pathology: a preliminary report. J Biocommun 1986 0.75
120 Use of western immunoblot for evaluation of myocardial dystrophin, alpha-sarcoglycan, and beta-dystroglycan in dogs with idiopathic dilated cardiomyopathy. Am J Vet Res 2001 0.75
121 Usefulness of routine surveillance biopsies in children more than one year after orthotopic heart transplantation. Am J Cardiol 2001 0.75
122 Genomic characterization of the human peptidyl-prolyl-cis-trans-isomerase, mitochondrial precursor gene: assessment of its role in familial dilated cardiomyopathy. Hum Genet 1999 0.75
123 Recent advances in the etiology, diagnosis, and treatment of myocarditis and cardiomyopathies in children. Curr Opin Pediatr 1995 0.75
124 Stenting of the ductus arteriosus in hypoplastic left heart syndrome as an ambulatory bridge to cardiac transplantation. Am J Cardiol 1994 0.75
125 Intrauterine adenoviral infection associated with fetal non-immune hydrops. Prenat Diagn 1998 0.75
126 PCR diagnosis of viral pneumonitis from fixed-lung tissue in children. Biochem Mol Med 1996 0.75
127 Postinfarction ventricular arrhythmias in children. Am Heart J 1995 0.75
128 Pseudoconduction of atrial flutter of a recipient atrium. J Heart Lung Transplant 1992 0.75