Daniel Judge to Phenotype
This is a "connection" page, showing publications Daniel Judge has written about Phenotype.
Connection Strength
2.019
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Further evidence of harm from exercise in ARVD/C. J Am Coll Cardiol. 2015 Apr 14; 65(14):1451-3.
Score: 0.394
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Phenotypic Expression, Natural History, and Risk Stratification of Cardiomyopathy Caused by Filamin C Truncating Variants. Circulation. 2021 11 16; 144(20):1600-1611.
Score: 0.154
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Phase 3 Multicenter Study of Revusiran in Patients with Hereditary Transthyretin-Mediated (hATTR) Amyloidosis with Cardiomyopathy (ENDEAVOUR). Cardiovasc Drugs Ther. 2020 06; 34(3):357-370.
Score: 0.141
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The Role of Genetics in Peripartum Cardiomyopathy. J Cardiovasc Transl Res. 2017 Dec; 10(5-6):437-445.
Score: 0.116
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Multilevel analyses of SCN5A mutations in arrhythmogenic right ventricular dysplasia/cardiomyopathy suggest non-canonical mechanisms for disease pathogenesis. Cardiovasc Res. 2017 01; 113(1):102-111.
Score: 0.111
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Absence of a Primary Role for SCN10A Mutations in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy. J Cardiovasc Transl Res. 2016 Feb; 9(1):87-9.
Score: 0.104
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Missense mutations in plakophilin-2 cause sodium current deficit and associate with a Brugada syndrome phenotype. Circulation. 2014 Mar 11; 129(10):1092-103.
Score: 0.090
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The mitral valve in hypertrophic cardiomyopathy: old versus new concepts. J Cardiovasc Transl Res. 2011 Dec; 4(6):757-66.
Score: 0.077
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Mitral valve disease in Marfan syndrome and related disorders. J Cardiovasc Transl Res. 2011 Dec; 4(6):741-7.
Score: 0.077
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Shared desmosome gene findings in early and late onset arrhythmogenic right ventricular dysplasia/cardiomyopathy. J Cardiovasc Transl Res. 2010 Dec; 3(6):663-73.
Score: 0.072
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Genetic evaluation of familial cardiomyopathy. J Cardiovasc Transl Res. 2008 Jun; 1(2):144-54.
Score: 0.061
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Penetrance of mutations in plakophilin-2 among families with arrhythmogenic right ventricular dysplasia/cardiomyopathy. J Am Coll Cardiol. 2006 Oct 03; 48(7):1416-24.
Score: 0.054
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Genetic and Phenotypic Landscape of Peripartum Cardiomyopathy. Circulation. 2021 05 11; 143(19):1852-1862.
Score: 0.037
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FLNC truncations cause arrhythmogenic right ventricular cardiomyopathy. J Med Genet. 2020 04; 57(4):254-257.
Score: 0.034
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Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2018 09; 20(9):899-909.
Score: 0.031
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Genetic Evaluation of Cardiomyopathy-A Heart Failure Society of America Practice Guideline. J Card Fail. 2018 May; 24(5):281-302.
Score: 0.030
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Cardiac phenotype and long-term prognosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia patients with late presentation. Heart Rhythm. 2017 06; 14(6):883-891.
Score: 0.028
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Neonatal Transplantation Confers Maturation of PSC-Derived Cardiomyocytes Conducive to Modeling Cardiomyopathy. Cell Rep. 2017 01 10; 18(2):571-582.
Score: 0.028
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Genotype and Phenotype of Transthyretin Cardiac Amyloidosis: THAOS (Transthyretin Amyloid Outcome Survey). J Am Coll Cardiol. 2016 07 12; 68(2):161-72.
Score: 0.027
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Characterizing the Molecular Pathology of Arrhythmogenic Cardiomyopathy in Patient Buccal Mucosa Cells. Circ Arrhythm Electrophysiol. 2016 Feb; 9(2):e003688.
Score: 0.026
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Approach to family screening in arrhythmogenic right ventricular dysplasia/cardiomyopathy. Eur Heart J. 2016 Mar 01; 37(9):755-63.
Score: 0.025
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Contemporary cardiac issues in Duchenne muscular dystrophy. Working Group of the National Heart, Lung, and Blood Institute in collaboration with Parent Project Muscular Dystrophy. Circulation. 2015 May 05; 131(18):1590-8.
Score: 0.025
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Cardiac findings and events observed in an open-label clinical trial of tafamidis in patients with non-Val30Met and non-Val122Ile hereditary transthyretin amyloidosis. J Cardiovasc Transl Res. 2015 Mar; 8(2):117-27.
Score: 0.024
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Impact of genotype on clinical course in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated mutation carriers. Eur Heart J. 2015 Apr 07; 36(14):847-55.
Score: 0.024
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Exercise has a disproportionate role in the pathogenesis of arrhythmogenic right ventricular dysplasia/cardiomyopathy in patients without desmosomal mutations. J Am Heart Assoc. 2014 Dec; 3(6):e001471.
Score: 0.024
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Novel and highly lethal NKX2.5 missense mutation in a family with sudden death and ventricular arrhythmia. Pediatr Cardiol. 2014 Oct; 35(7):1206-12.
Score: 0.023
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Arrhythmogenic right ventricular dysplasia/cardiomyopathy and cardiac sarcoidosis: distinguishing features when the diagnosis is unclear. Circ Arrhythm Electrophysiol. 2014 Apr; 7(2):230-6.
Score: 0.023
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Angiotensin II-dependent TGF-? signaling contributes to Loeys-Dietz syndrome vascular pathogenesis. J Clin Invest. 2014 Jan; 124(1):448-60.
Score: 0.022
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Effects of tafamidis on transthyretin stabilization and clinical outcomes in patients with non-Val30Met transthyretin amyloidosis. J Cardiovasc Transl Res. 2013 Dec; 6(6):1011-20.
Score: 0.022
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Mutation-positive arrhythmogenic right ventricular dysplasia/cardiomyopathy: the triangle of dysplasia displaced. J Cardiovasc Electrophysiol. 2013 Dec; 24(12):1311-20.
Score: 0.022
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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 Nov; 14(11):1199-207.
Score: 0.020
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The diagnosis of hypertrophic cardiomyopathy by cardiovascular magnetic resonance. J Cardiovasc Magn Reson. 2012 Feb 20; 14:17.
Score: 0.020
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Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome. Sci Transl Med. 2010 Mar 17; 2(23):23ra20.
Score: 0.017
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A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet. 2005 Mar; 37(3):275-81.
Score: 0.012
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TGF-beta-dependent pathogenesis of mitral valve prolapse in a mouse model of Marfan syndrome. J Clin Invest. 2004 Dec; 114(11):1586-92.
Score: 0.012
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Allelic variation in normal human FBN1 expression in a family with Marfan syndrome: a potential modifier of phenotype? Hum Mol Genet. 2003 Sep 15; 12(18):2269-76.
Score: 0.011