Published in Am J Hum Genet on January 01, 2010
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Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban. Science (2003) 3.71
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The genetic basis for cardiac remodeling. Annu Rev Genomics Hum Genet (2005) 3.36
Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy. J Clin Invest (2002) 3.33
Assessment of diastolic function with Doppler tissue imaging to predict genotype in preclinical hypertrophic cardiomyopathy. Circulation (2002) 3.20
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Cardiac myosin-binding protein-C phosphorylation and cardiac function. Circ Res (2005) 2.67
Genome-wide copy-number-variation study identified a susceptibility gene, UGT2B17, for osteoporosis. Am J Hum Genet (2008) 2.65
Cardiac fibrosis in mice with hypertrophic cardiomyopathy is mediated by non-myocyte proliferation and requires Tgf-β. J Clin Invest (2010) 2.64
GJB2 mutations and degree of hearing loss: a multicenter study. Am J Hum Genet (2005) 2.63
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Optical methodology for detecting histologically unapparent nanoscale consequences of genetic alterations in biological cells. Proc Natl Acad Sci U S A (2008) 2.33
Transgenic mice overexpressing mutant PRKAG2 define the cause of Wolff-Parkinson-White syndrome in glycogen storage cardiomyopathy. Circulation (2003) 2.28
Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans. J Clin Invest (2006) 2.27
AMP-activated protein kinase in the heart: role during health and disease. Circ Res (2007) 2.27
Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder. Hum Mol Genet (2002) 2.27
The L-type calcium channel inhibitor diltiazem prevents cardiomyopathy in a mouse model. J Clin Invest (2002) 2.26
Mutant DNA-binding domain of HSF4 is associated with autosomal dominant lamellar and Marner cataract. Nat Genet (2002) 2.21
Genetic basis of hypertrophic cardiomyopathy: from bench to the clinics. J Cardiovasc Electrophysiol (2007) 2.18
Genome-wide association study in Han Chinese identifies four new susceptibility loci for coronary artery disease. Nat Genet (2012) 2.17
UCA1, a non-protein-coding RNA up-regulated in bladder carcinoma and embryo, influencing cell growth and promoting invasion. FEBS Lett (2008) 2.14
Evaluation of noise-induced hearing loss in young people using a web-based survey technique. Pediatrics (2005) 2.14
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Barcoding bias in high-throughput multiplex sequencing of miRNA. Genome Res (2011) 2.12
A molecular pathway including Id2, Tbx5, and Nkx2-5 required for cardiac conduction system development. Cell (2007) 2.12
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MicroRNA cluster 302-367 enhances somatic cell reprogramming by accelerating a mesenchymal-to-epithelial transition. J Biol Chem (2011) 2.08
Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion. Am J Hum Genet (2005) 2.06
Polycomb repressive complex 2 regulates normal development of the mouse heart. Circ Res (2011) 2.05
Confocal microwave imaging for breast cancer detection: localization of tumors in three dimensions. IEEE Trans Biomed Eng (2002) 2.01
The 2009 pandemic H1N1 neuraminidase N1 lacks the 150-cavity in its active site. Nat Struct Mol Biol (2010) 1.98
The mortality observed-to-expected ratio in otolaryngology. Otolaryngol Head Neck Surg (2012) 1.97
Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family. Am J Hum Genet (2003) 1.96
Phenotypic diversity in hypertrophic cardiomyopathy. Hum Mol Genet (2002) 1.93
A genome-wide association study identifies two new risk loci for Graves' disease. Nat Genet (2011) 1.92
Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly. Circulation (2002) 1.91
Tbx5-dependent rheostatic control of cardiac gene expression and morphogenesis. Dev Biol (2006) 1.91
Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes. Nat Genet (2013) 1.91
Instrumental variable methods for causal inference. Stat Med (2014) 1.90
Genetics of congenital heart disease: the glass half empty. Circ Res (2013) 1.90
Natriuretic peptide system gene variants are associated with ventricular dysfunction after coronary artery bypass grafting. Anesthesiology (2009) 1.85
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Elastic backscattering spectroscopic microscopy. Opt Lett (2005) 1.84
Familial dilated cardiomyopathy caused by an alpha-tropomyosin mutation: the distinctive natural history of sarcomeric dilated cardiomyopathy. J Am Coll Cardiol (2010) 1.83
A 5-microRNA signature for lung squamous cell carcinoma diagnosis and hsa-miR-31 for prognosis. Clin Cancer Res (2011) 1.82
Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population. Hum Genet (2005) 1.81
Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss. Nat Genet (2005) 1.80
Prestin, a cochlear motor protein, is defective in non-syndromic hearing loss. Hum Mol Genet (2003) 1.80
Essential role of retinoblastoma protein in mammalian hair cell development and hearing. Proc Natl Acad Sci U S A (2006) 1.78
Crumbs homologue 1 is required for maintenance of photoreceptor cell polarization and adhesion during light exposure. J Cell Sci (2004) 1.77
Asthma numeracy skill and health literacy. J Asthma (2006) 1.77
Proteomic fingerprints for potential application to early diagnosis of severe acute respiratory syndrome. Clin Chem (2004) 1.76
Clinical outcome and phenotypic expression in LAMP2 cardiomyopathy. JAMA (2009) 1.75
Allele-specific silencing of mutant Myh6 transcripts in mice suppresses hypertrophic cardiomyopathy. Science (2013) 1.75
Children on the homefront: the experience of children from military families. Pediatrics (2009) 1.75
Contemporary evaluation and management of hypertrophic cardiomyopathy. Circulation (2002) 1.73
Severe heart failure and early mortality in a double-mutation mouse model of familial hypertrophic cardiomyopathy. Circulation (2008) 1.72
A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease. Am J Hum Genet (2009) 1.71
2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines. J Thorac Cardiovasc Surg (2011) 1.70
CD44+ CD133+ population exhibits cancer stem cell-like characteristics in human gallbladder carcinoma. Cancer Biol Ther (2010) 1.68
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A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders. J Clin Invest (2005) 1.68
Ototoxicity caused by aminoglycosides. BMJ (2007) 1.67