J Peter van Tintelen

Author PubWeight™ 63.38‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death? J Mol Med (Berl) 2004 2.81
2 Peripartum cardiomyopathy as a part of familial dilated cardiomyopathy. Circulation 2010 2.41
3 Distinguishing arrhythmogenic right ventricular cardiomyopathy/dysplasia-associated mutations from background genetic noise. J Am Coll Cardiol 2011 2.31
4 Risk factors for malignant ventricular arrhythmias in lamin a/c mutation carriers a European cohort study. J Am Coll Cardiol 2012 2.28
5 Activation delay and VT parameters in arrhythmogenic right ventricular dysplasia/cardiomyopathy: toward improvement of diagnostic ECG criteria. J Cardiovasc Electrophysiol 2008 2.09
6 Arrhythmogenic right ventricular dysplasia/cardiomyopathy: pathogenic desmosome mutations in index-patients predict outcome of family screening: Dutch arrhythmogenic right ventricular dysplasia/cardiomyopathy genotype-phenotype follow-up study. Circulation 2011 2.04
7 Clinical Presentation, Long-Term Follow-Up, and Outcomes of 1001 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patients and Family Members. Circ Cardiovasc Genet 2015 1.94
8 Desmin mutations as a cause of right ventricular heart failure affect the intercalated disks. Heart Rhythm 2010 1.85
9 Targeted next-generation sequencing can replace Sanger sequencing in clinical diagnostics. Hum Mutat 2013 1.85
10 Identification and functional characterization of cardiac troponin I as a novel disease gene in autosomal dominant dilated cardiomyopathy. Circ Res 2009 1.83
11 Expanding spectrum of human RYR2-related disease: new electrocardiographic, structural, and genetic features. Circulation 2007 1.74
12 The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis. J Am Coll Cardiol 2009 1.70
13 Desmoglein-2 and desmocollin-2 mutations in dutch arrhythmogenic right ventricular dysplasia/cardiomypathy patients: results from a multicenter study. Circ Cardiovasc Genet 2009 1.54
14 Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy. Eur J Heart Fail 2012 1.51
15 Left-dominant arrhythmogenic cardiomyopathy in a large family: associated desmosomal or nondesmosomal genotype? Heart Rhythm 2012 1.46
16 Clinical and genetic characterization of patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy caused by a plakophilin-2 splice mutation. Cardiology 2012 1.40
17 A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathy. Hum Mutat 2009 1.38
18 Arrhythmogenic right ventricular dysplasia/cardiomyopathy diagnostic task force criteria: impact of new task force criteria. Circ Arrhythm Electrophysiol 2010 1.07
19 Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience. Eur J Heart Fail 2013 1.05
20 Familial evaluation in catecholaminergic polymorphic ventricular tachycardia: disease penetrance and expression in cardiac ryanodine receptor mutation-carrying relatives. Circ Arrhythm Electrophysiol 2012 1.05
21 Genetic diagnosis through whole-exome sequencing. N Engl J Med 2014 1.02
22 New ECG criteria in arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circ Arrhythm Electrophysiol 2009 1.00
23 Familial disease with a risk of sudden death: a longitudinal study of the psychological consequences of predictive testing for long QT syndrome. Heart Rhythm 2008 0.95
24 Two related Dutch families with a clinically variable presentation of cardioskeletal myopathy caused by a novel S13F mutation in the desmin gene. Eur J Med Genet 2007 0.93
25 Recessive MYL2 mutations cause infantile type I muscle fibre disease and cardiomyopathy. Brain 2013 0.90
26 Manifest disease, risk factors for sudden cardiac death, and cardiac events in a large nationwide cohort of predictively tested hypertrophic cardiomyopathy mutation carriers: determining the best cardiological screening strategy. Eur Heart J 2011 0.89
27 Family letters are an effective way to inform relatives about inherited cardiac disease. Am J Med Genet A 2009 0.89
28 The ARVD/C genetic variants database: 2014 update. Hum Mutat 2015 0.88
29 Inflammation aggravates disease severity in Marfan syndrome patients. PLoS One 2012 0.87
30 Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers. Eur J Heart Fail 2012 0.87
31 Clinical utility gene card for: dilated cardiomyopathy (CMD). Eur J Hum Genet 2012 0.87
32 Arrhythmogenic right ventricular dysplasia/cardiomyopathy according to revised 2010 task force criteria with inclusion of non-desmosomal phospholamban mutation carriers. Am J Cardiol 2013 0.86
33 DNA analysis in inherited cardiomyopathies: current status and clinical relevance. Pacing Clin Electrophysiol 2008 0.85
34 Gender differences in the long QT syndrome: effects of beta-adrenoceptor blockade. Cardiovasc Res 2002 0.85
35 The yield of risk stratification for sudden cardiac death in hypertrophic cardiomyopathy myosin-binding protein C gene mutation carriers: focus on predictive screening. Eur Heart J 2009 0.84
36 A novel LQT3 mutation implicates the human cardiac sodium channel domain IVS6 in inactivation kinetics. Cardiovasc Res 2003 0.83
37 Developmental aspects of long QT syndrome type 3 and Brugada syndrome on the basis of a single SCN5A mutation in childhood. J Am Coll Cardiol 2005 0.82
38 A systematic analysis of genetic dilated cardiomyopathy reveals numerous ubiquitously expressed and muscle-specific genes. Eur J Heart Fail 2015 0.82
39 Sex differences in cardiomyopathies. Eur J Heart Fail 2014 0.81
40 Complement system modulation as a target for treatment of arrhythmogenic cardiomyopathy. Basic Res Cardiol 2015 0.81
41 Relation between genotype and left-ventricular dilatation in patients with Marfan syndrome. Gene 2013 0.80
42 Mortality risk of untreated myosin-binding protein C-related hypertrophic cardiomyopathy: insight into the natural history. J Am Coll Cardiol 2011 0.80
43 Diagnostic yield in adults screened at the Marfan outpatient clinic using the 1996 and 2010 Ghent nosologies. Am J Med Genet A 2012 0.79
44 Cardiomyopathies: New test for arrhythmogenic right ventricular cardiomyopathy. Nat Rev Cardiol 2009 0.78
45 Familial dilated cardiomyopathy: another risk factor for anthracycline-induced cardiotoxicity? Eur J Heart Fail 2010 0.78
46 Mortality of inherited arrhythmia syndromes: insight into their natural history. Circ Cardiovasc Genet 2012 0.78
47 Prophylactic aortic root surgery in patients with Marfan syndrome: 10 years' experience with a protocol based on body surface area. Eur J Cardiothorac Surg 2008 0.78
48 Letter regarding the article: "R298Q mutation of p63 gene in autosomal dominant ectodermal dysplasia associated with arrhythmogenic right ventricular cardiomyopathy" by Valenzise et al. Eur J Med Genet 2009 0.78
49 Referral for genetic counseling after the birth of a child with a congenital anomaly in the Northern Netherlands. Am J Med Genet 2002 0.77
50 The importance of the family history in caring for families with long QT syndrome and dilated cardiomyopathy. Am J Med Genet A 2010 0.76
51 New clinical molecular diagnostic methods for congenital and inherited heart disease. Expert Opin Med Diagn 2010 0.76
52 Screening of TGFBR1, TGFBR2, and FLNA in familial mitral valve prolapse. Am J Med Genet A 2013 0.75
53 Counsel the genotype, treat the phenotype. Eur J Heart Fail 2011 0.75
54 Quantification of repolarization morphology in the long QT-syndrome in the genomic era. Heart Rhythm 2006 0.75
55 Brugada syndrome or Brugada electrocardiogram? J Am Coll Cardiol 2009 0.75
56 Lamin A/C-related cardiac disease and pregnancy. Eur J Heart Fail 2010 0.75
57 Ultrastructural pathology of the nuclear envelope in familial lamin A/C cardiomyopathy. Cardiovasc Pathol 2009 0.75
58 Lamin A/C mutation is independently associated with an increased risk of arterial and venous thromboembolic complications. Int J Cardiol 2012 0.75