Published in Am J Cardiol on June 27, 2007
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Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. Nat Genet (2006) 3.97
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Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism. Hum Mol Genet (2005) 3.76
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Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. Nat Genet (2007) 3.47
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Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy. J Clin Invest (2002) 3.33
Left ventricular outflow tract obstruction and sudden death risk in patients with hypertrophic cardiomyopathy. Eur Heart J (2006) 3.22
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Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. Nat Genet (2009) 2.72
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Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy. J Am Coll Cardiol (2004) 2.49
Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. Am J Hum Genet (2002) 2.46
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Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy. J Am Coll Cardiol (2004) 2.40
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Abnormal myocardial deformation properties in obese, non-hypertensive children: an ambulatory blood pressure monitoring, standard echocardiographic, and strain rate imaging study. Eur Heart J (2006) 2.35
Genetic susceptibility to nonsteroidal anti-inflammatory drug-related gastroduodenal bleeding: role of cytochrome P450 2C9 polymorphisms. Gastroenterology (2007) 2.32
PINK1 mutations are associated with sporadic early-onset parkinsonism. Ann Neurol (2004) 2.30
Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2. Am J Hum Genet (2006) 2.26
Effect of dynamic myocardial dyssynchrony on mitral regurgitation during supine bicycle exercise stress echocardiography in patients with idiopathic dilated cardiomyopathy and 'narrow' QRS. Eur Heart J (2007) 2.25
Genotypes and phenotypes of Joubert syndrome and related disorders. Eur J Med Genet (2007) 2.23
Prospective evaluation of relatives for familial arrhythmogenic right ventricular cardiomyopathy/dysplasia reveals a need to broaden diagnostic criteria. J Am Coll Cardiol (2002) 2.22
Immunohistologic evidence of myocardial disease in apparently healthy relatives of patients with dilated cardiomyopathy. J Am Coll Cardiol (2002) 2.19
Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome. Am J Hum Genet (2011) 2.14
Non-sustained ventricular tachycardia in hypertrophic cardiomyopathy: an independent marker of sudden death risk in young patients. J Am Coll Cardiol (2003) 2.10
Gadolinium enhanced cardiovascular magnetic resonance in Anderson-Fabry disease. Evidence for a disease specific abnormality of the myocardial interstitium. Eur Heart J (2003) 2.08
Desmoglein-2 mutations in arrhythmogenic right ventricular cardiomyopathy: a genotype-phenotype characterization of familial disease. Eur Heart J (2006) 2.07
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Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. Hum Mutat (2008) 2.00
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Metabolic modulator perhexiline corrects energy deficiency and improves exercise capacity in symptomatic hypertrophic cardiomyopathy. Circulation (2010) 1.96
Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation. Am J Hum Genet (2003) 1.95
Elements of morphology: standard terminology for the nose and philtrum. Am J Med Genet A (2009) 1.93
The cardiac desmosome and arrhythmogenic cardiomyopathies: from gene to disease. Circ Res (2010) 1.92
Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly. Circulation (2002) 1.91
A novel dominant mutation in plakoglobin causes arrhythmogenic right ventricular cardiomyopathy. Am J Hum Genet (2007) 1.91
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis. Nat Genet (2010) 1.89
Mutations in PYCR1 cause cutis laxa with progeroid features. Nat Genet (2009) 1.89
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. Ann Neurol (2006) 1.89
Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance. Am J Hum Genet (2007) 1.86
Arrhythmogenic cardiomyopathy: etiology, diagnosis, and treatment. Annu Rev Med (2010) 1.86
Role of genetic analysis in the management of patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy. J Am Coll Cardiol (2007) 1.86
Echocardiographic evaluation in asymptomatic relatives of patients with dilated cardiomyopathy reveals preclinical disease. Ann Intern Med (2005) 1.85
Additive effects of genetic variation in dopamine regulating genes on working memory cortical activity in human brain. J Neurosci (2006) 1.85
Genetics of right ventricular cardiomyopathy. J Cardiovasc Electrophysiol (2005) 1.84
Hypertrophic cardiomyopathy due to sarcomeric gene mutations is characterized by impaired energy metabolism irrespective of the degree of hypertrophy. J Am Coll Cardiol (2003) 1.84
The impact of implantable cardioverter-defibrillator therapy on survival in autosomal-dominant arrhythmogenic right ventricular cardiomyopathy (ARVD5). J Am Coll Cardiol (2005) 1.83
Multidimensional Prognostic Index based on a comprehensive geriatric assessment predicts short-term mortality in older patients with heart failure. Circ Heart Fail (2009) 1.83
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. Am J Hum Genet (2007) 1.82
Clinical expression of plakophilin-2 mutations in familial arrhythmogenic right ventricular cardiomyopathy. Circulation (2006) 1.82
Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation. Pediatrics (2008) 1.80
Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype. Am J Hum Genet (2006) 1.78