Published in Hum Mol Genet on February 28, 2014
Modeling structural and functional deficiencies of RBM20 familial dilated cardiomyopathy using human induced pluripotent stem cells. Hum Mol Genet (2015) 0.77
Induced pluripotent stem cells for cardiovascular disease: from product-focused disease modeling to process-focused disease discovery. Regen Med (2015) 0.77
Alterations in Multi-Scale Cardiac Architecture in Association With Phosphorylation of Myosin Binding Protein-C. J Am Heart Assoc (2016) 0.75
Pre-mRNA mis-splicing of sarcomeric genes in heart failure. Biochim Biophys Acta (2016) 0.75
Pharmacological Modulation of Calcium Homeostasis in Familial Dilated Cardiomyopathy: An In Vitro Analysis From an RBM20 Patient-Derived iPSC Model. Clin Transl Sci (2016) 0.75
Alternative splicing as a regulator of development and tissue identity. Nat Rev Mol Cell Biol (2017) 0.75
Delineating RBM20 regulation of alternative splicing in dilated cardiomyopathy. Circ Cardiovasc Genet (2014) 0.75
A novel porcine model of ataxia telangiectasia reproduces neurological features and motor deficits of human disease. Hum Mol Genet (2015) 0.75
Fast gapped-read alignment with Bowtie 2. Nat Methods (2012) 83.79
TopHat2: accurate alignment of transcriptomes in the presence of insertions, deletions and gene fusions. Genome Biol (2013) 32.42
Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of cardiomyopathies. Circulation (1996) 9.00
Incidence, causes, and outcomes of dilated cardiomyopathy in children. JAMA (2006) 4.51
ASF/SF2-regulated CaMKIIdelta alternative splicing temporally reprograms excitation-contraction coupling in cardiac muscle. Cell (2005) 3.96
The transcriptome profile of human embryonic stem cells as defined by SAGE. Stem Cells (2004) 3.78
Genetic evaluation of cardiomyopathy--a Heart Failure Society of America practice guideline. J Card Fail (2009) 3.54
Mef2 gene expression marks the cardiac and skeletal muscle lineages during mouse embryogenesis. Development (1994) 3.53
The frequency of familial dilated cardiomyopathy in a series of patients with idiopathic dilated cardiomyopathy. N Engl J Med (1992) 3.53
Patient-specific induced pluripotent stem cells as a model for familial dilated cardiomyopathy. Sci Transl Med (2012) 3.53
Mitochondrial deficiency and cardiac sudden death in mice lacking the MEF2A transcription factor. Nat Med (2002) 3.31
Individual RNA recognition motifs of TIA-1 and TIAR have different RNA binding specificities. J Biol Chem (1996) 2.89
Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy. J Am Coll Cardiol (2009) 2.53
Temporally regulated expression of Lin-28 in diverse tissues of the developing mouse. Gene Expr Patterns (2003) 2.39
Differential expression of cardiac titin isoforms and modulation of cellular stiffness. Circ Res (2000) 2.28
Selective requirement of myosin light chain 2v in embryonic heart function. J Biol Chem (1998) 2.05
RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing. Nat Med (2012) 1.97
Improved outcomes of pediatric dilated cardiomyopathy with utilization of heart transplantation. J Am Coll Cardiol (2004) 1.89
The cardiac transcription network modulated by Gata4, Mef2a, Nkx2.5, Srf, histone modifications, and microRNAs. PLoS Genet (2011) 1.69
Nkx-2.5: a novel murine homeobox gene expressed in early heart progenitor cells and their myogenic descendants. Development (1993) 1.61
RNA-binding protein RBM24 is required for sarcomere assembly and heart contractility. Cardiovasc Res (2012) 1.57
The importance of CELF control: molecular and biological roles of the CUG-BP, Elav-like family of RNA-binding proteins. Wiley Interdiscip Rev RNA (2011) 1.54
Identification of novel mutations in RBM20 in patients with dilated cardiomyopathy. Clin Transl Sci (2010) 1.52
Odd-skipped related 1 (Odd 1) is an essential regulator of heart and urogenital development. Dev Biol (2005) 1.47
Titin is a major human disease gene. Circulation (2013) 1.29
Identification of two novel mutations in the ventricular regulatory myosin light chain gene (MYL2) associated with familial and classical forms of hypertrophic cardiomyopathy. J Mol Med (Berl) (1998) 1.27
Gene expression profiles in end-stage human idiopathic dilated cardiomyopathy: altered expression of apoptotic and cytoskeletal genes. Genomics (2004) 1.22
Mutation that dramatically alters rat titin isoform expression and cardiomyocyte passive tension. J Mol Cell Cardiol (2008) 1.20
Deficiency in APOBEC2 leads to a shift in muscle fiber type, diminished body mass, and myopathy. J Biol Chem (2009) 1.19
Modulation of contractility in human cardiac hypertrophy by myosin essential light chain isoforms. Cardiovasc Res (1998) 1.17
Tbx5-hedgehog molecular networks are essential in the second heart field for atrial septation. Dev Cell (2012) 1.16
Genetics of dilated cardiomyopathy. Heart Fail Clin (2010) 1.08
Splicing factors SF1 and U2AF associate in extraspliceosomal complexes. Mol Cell Biol (2008) 1.00
A role for the RNA-binding protein, hermes, in the regulation of heart development. Dev Biol (2002) 0.98
Functional characterization of a novel mutation in NKX2-5 associated with congenital heart disease and adult-onset cardiomyopathy. Circ Cardiovasc Genet (2013) 0.98
The Mef2A transcription factor coordinately regulates a costamere gene program in cardiac muscle. J Biol Chem (2011) 0.96
The ribosomal RNA processing machinery is recruited to the nucleolar domain before RNA polymerase I during Xenopus laevis development. J Cell Biol (2000) 0.96
Rbm20 regulates titin alternative splicing as a splicing repressor. Nucleic Acids Res (2013) 0.95
Apoptotic susceptibility to DNA damage of pluripotent stem cells facilitates pharmacologic purging of teratoma risk. Stem Cells Transl Med (2012) 0.90
Myosin light chain gene expression associated with disease states of the human heart. J Mol Cell Cardiol (1993) 0.89
Novel mutations in the sarcomeric protein myopalladin in patients with dilated cardiomyopathy. Eur J Hum Genet (2012) 0.88
Whole exome sequencing identifies a causal RBM20 mutation in a large pedigree with familial dilated cardiomyopathy. Circ Cardiovasc Genet (2013) 0.87
Left cardiac isomerism in the Sonic hedgehog null mouse. J Anat (2009) 0.83
Natural cardiogenesis-based template predicts cardiogenic potential of induced pluripotent stem cell lines. Circ Cardiovasc Genet (2013) 0.83
A role for the transcription factor RelB in IFN-alpha production and in IFN-alpha-stimulated cross-priming. Eur J Immunol (2006) 0.82
Teratocarcinoma-derived growth factor 1 (TDGF1) sequence variants in patients with congenital heart defect. Int J Cardiol (2009) 0.82
Infantile hypertrophic cardiomyopathy associated with a novel MYL3 mutation. Cardiology (2013) 0.77
Specific congenital heart defects in RSH/Smith-Lemli-Opitz syndrome: postulated involvement of the sonic hedgehog pathway in syndromes with postaxial polydactyly or heterotaxia. Birth Defects Res A Clin Mol Teratol (2003) 0.77