Published in Am J Hum Genet on February 28, 2008
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Identification of a novel in-frame deletion in KCNQ4 (DFNA2A) and evidence of multiple phenocopies of unknown origin in a family with ADSNHL. Eur J Hum Genet (2013) 0.79
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Profiling of differentially expressed microRNAs in arrhythmogenic right ventricular cardiomyopathy. Sci Rep (2016) 0.78
Genetic structure of the Newfoundland and Labrador population: founder effects modulate variability. Eur J Hum Genet (2015) 0.77
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Novel mutations in arrhythmogenic right ventricular cardiomyopathy from Indian population. Indian J Hum Genet (2011) 0.76
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Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia (ARVC/D): Review of 16 Pediatric Cases and a Proposal of Modified Pediatric Criteria. Pediatr Cardiol (2016) 0.76
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The phospholamban p.Arg14del founder mutation in Dutch patients with arrhythmogenic cardiomyopathy. Neth Heart J (2013) 0.75
A common variant in CLDN14 causes precipitous, prelingual sensorineural hearing loss in multiple families due to founder effect. Hum Genet (2016) 0.75
Mutation analysis of the candidate genes SCN1B-4B, FHL1, and LMNA in patients with arrhythmogenic right ventricular cardiomyopathy. Appl Transl Genom (2012) 0.75
Knockdown of Plakophilin 2 Downregulates miR-184 Through CpG Hypermethylation and Suppression of the E2F1 Pathway and Leads to Enhanced Adipogenesis In Vitro. Circ Res (2016) 0.75
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Linkage analysis of three families with arrythmogenic right ventricular cardiomyopathy in India. Indian J Hum Genet (2009) 0.75
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Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome. Am J Hum Genet (2017) 0.75
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Embodying a New Meaning of Being At Risk: Living With an Implantable Cardioverter Defibrillator for Arrhythmogenic Right Ventricular Cardiomyopathy. Glob Qual Nurs Res (2016) 0.75
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Wnt/β-catenin pathway in arrhythmogenic cardiomyopathy. Oncotarget (2017) 0.75
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Unmasking the molecular link between arrhythmogenic cardiomyopathy and Brugada syndrome. Nat Rev Cardiol (2017) 0.75
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Human non-synonymous SNPs: server and survey. Nucleic Acids Res (2002) 50.45
SNPs3D: candidate gene and SNP selection for association studies. BMC Bioinformatics (2006) 21.54
ExPASy: The proteomics server for in-depth protein knowledge and analysis. Nucleic Acids Res (2003) 17.39
Accounting for human polymorphisms predicted to affect protein function. Genome Res (2002) 14.10
PMUT: a web-based tool for the annotation of pathological mutations on proteins. Bioinformatics (2005) 9.88
NPS@: network protein sequence analysis. Trends Biochem Sci (2000) 9.68
PANTHER: a browsable database of gene products organized by biological function, using curated protein family and subfamily classification. Nucleic Acids Res (2003) 7.21
Regulatory mutations in transforming growth factor-beta3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1. Cardiovasc Res (2005) 3.99
Echocardiographic measurements in normal subjects from infancy to old age. Circulation (1980) 3.55
Suppression of canonical Wnt/beta-catenin signaling by nuclear plakoglobin recapitulates phenotype of arrhythmogenic right ventricular cardiomyopathy. J Clin Invest (2006) 3.22
Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2). Hum Mol Genet (2001) 3.12
Novel mutation in desmoplakin causes arrhythmogenic left ventricular cardiomyopathy. Circulation (2005) 3.11
Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy. Circulation (2006) 2.81
Clinical and genetic characterization of families with arrhythmogenic right ventricular dysplasia/cardiomyopathy provides novel insights into patterns of disease expression. Circulation (2007) 2.56
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
Clinical profile and long-term follow-up of 37 families with arrhythmogenic right ventricular cardiomyopathy. J Am Coll Cardiol (2000) 2.08
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A long term follow up of 15 patients with arrhythmogenic right ventricular dysplasia. Br Heart J (1987) 1.53
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Very high incidence of familial colorectal cancer in Newfoundland: a comparison with Ontario and 13 other population-based studies. Fam Cancer (2007) 1.39
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Total disconnection of the right ventricular free wall: surgical treatment of right ventricular tachycardia associated with right ventricular dysplasia. Circulation (1983) 1.07
Arrhythmogenic right ventricular cardiomyopathy: moving toward mechanism. J Clin Invest (2006) 0.99
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Arrhythmogenic right ventricular cardiomyopathy in two pairs of monozygotic twins. Int J Cardiol (2005) 0.89
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Left ventricular involvement in arrhythmogenic right ventricular cardiomyopathy demonstrated by multidetector-row computed tomography. Int J Cardiol (2006) 0.88
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Genome scan meta-analysis of schizophrenia and bipolar disorder, part II: Schizophrenia. Am J Hum Genet (2003) 6.63
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The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy. Cell (2002) 4.72
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Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. Nat Genet (2004) 3.88
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The Myoblast Autologous Grafting in Ischemic Cardiomyopathy (MAGIC) trial: first randomized placebo-controlled study of myoblast transplantation. Circulation (2008) 3.30
Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction. J Am Coll Cardiol (2003) 3.20
Mutations in sarcomere protein genes in left ventricular noncompaction. Circulation (2008) 2.93
Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy. Nat Genet (2002) 2.67
Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome. Nat Genet (2004) 2.64
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A method for accurate detection of genomic microdeletions using real-time quantitative PCR. BMC Genomics (2005) 2.04
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Identification of a schizophrenia-associated functional noncoding variant in NOS1AP. Am J Psychiatry (2009) 1.85
The impact of implantable cardioverter-defibrillator therapy on survival in autosomal-dominant arrhythmogenic right ventricular cardiomyopathy (ARVD5). J Am Coll Cardiol (2005) 1.83
The co-occurrence of early onset Parkinson disease and 22q11.2 deletion syndrome. Am J Med Genet A (2009) 1.82
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A major susceptibility locus for specific language impairment is located on 13q21. Am J Hum Genet (2002) 1.79
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Linkage disequilibrium mapping of schizophrenia susceptibility to the CAPON region of chromosome 1q22. Am J Hum Genet (2004) 1.55
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Stress-induced dilated cardiomyopathy in a knock-in mouse model mimicking human titin-based disease. J Mol Cell Cardiol (2009) 1.30
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Rationale--Trial to Reduce Cardiovascular Events with Aranesp Therapy (TREAT): evolving the management of cardiovascular risk in patients with chronic kidney disease. Am Heart J (2005) 1.25
Mutation of the myosin converter domain alters cross-bridge elasticity. Proc Natl Acad Sci U S A (2002) 1.24
Mutations in the sarcomere gene MYH7 in Ebstein anomaly. Circ Cardiovasc Genet (2010) 1.24
Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype. Circ Cardiovasc Genet (2011) 1.21
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Novel gene locus for autosomal dominant left ventricular noncompaction maps to chromosome 11p15. Circulation (2004) 1.19
Molecular characterization of deletion breakpoints in adults with 22q11 deletion syndrome. Hum Genet (2006) 1.17
Sudden cardiac death in chronic kidney disease: epidemiology and prevention. Nat Rev Nephrol (2011) 1.17
Left ventricular hypertrophy in new hemodialysis patients without symptomatic cardiac disease. Clin J Am Soc Nephrol (2010) 1.17
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Sex differences in reproductive fitness contribute to preferential maternal transmission of 22q11.2 deletions. J Med Genet (2011) 1.13
Extracardiac features predicting 22q11.2 deletion syndrome in adult congenital heart disease. Int J Cardiol (2008) 1.12
Rare nonconservative LRP6 mutations are associated with metabolic syndrome. Hum Mutat (2013) 1.12
High frequency of hereditary colorectal cancer in Newfoundland likely involves novel susceptibility genes. Clin Cancer Res (2005) 1.11
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures. Hum Mol Genet (2013) 1.11
Cancer risks for monoallelic MUTYH mutation carriers with a family history of colorectal cancer. Int J Cancer (2011) 1.10
Childhood head injury and expression of schizophrenia in multiply affected families. Arch Gen Psychiatry (2003) 1.08
Evaluating genetic counseling for family members of individuals with schizophrenia in the molecular age. Schizophr Bull (2012) 1.08
Expression of autism spectrum and schizophrenia in patients with a 22q11.2 deletion. Schizophr Res (2012) 1.08
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Promoter methylation of Wnt antagonists DKK1 and SFRP1 is associated with opposing tumor subtypes in two large populations of colorectal cancer patients. Carcinogenesis (2011) 1.07
Fine mapping of the schizophrenia susceptibility locus on chromosome 1q22. Hum Hered (2002) 1.06
Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients. Hum Mutat (2011) 1.05
Association of schizophrenia in 22q11.2 deletion syndrome and gray matter volumetric deficits in the superior temporal gyrus. Am J Psychiatry (2011) 1.03
Association of the PIK4CA schizophrenia-susceptibility gene in adults with the 22q11.2 deletion syndrome. Am J Med Genet B Neuropsychiatr Genet (2009) 1.02
Recognizing a common genetic syndrome: 22q11.2 deletion syndrome. CMAJ (2008) 1.01
Baseline characteristics of subjects enrolled in the Evaluation of Cinacalcet HCl Therapy to Lower Cardiovascular Events (EVOLVE) trial. Nephrol Dial Transplant (2012) 1.01
The phenotypic expression of three MSH2 mutations in large Newfoundland families with Lynch syndrome. Fam Cancer (2007) 1.01
Erythropoietin therapy, hemoglobin targets, and quality of life in healthy hemodialysis patients: a randomized trial. Clin J Am Soc Nephrol (2009) 1.01
Validity of random-digit-dialing in recruiting controls in a case-control study. Am J Health Behav (2009) 1.00
Evaluation of a susceptibility gene for schizophrenia: genotype based meta-analysis of RGS4 polymorphisms from thirteen independent samples. Biol Psychiatry (2006) 1.00
Variable neurologic phenotype in a GEFS+ family with a novel mutation in SCN1A. Seizure (2009) 1.00
Lynch syndrome: barriers to and facilitators of screening and disease management. Hered Cancer Clin Pract (2011) 1.00
Arrhythmogenic right ventricular cardiomyopathy: moving toward mechanism. J Clin Invest (2006) 0.99