Daniel Judge to DNA Mutational Analysis
This is a "connection" page, showing publications Daniel Judge has written about DNA Mutational Analysis.
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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: 0.144
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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: 0.135
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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: 0.093
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Recessive arrhythmogenic right ventricular dysplasia due to novel cryptic splice mutation in PKP2. Hum Mutat. 2006 Nov; 27(11):1157.
Score: 0.071
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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: 0.071
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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: 0.034
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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: 0.030
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Incremental value of cardiac magnetic resonance imaging in arrhythmic risk stratification of arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers. J Am Coll Cardiol. 2013 Nov 05; 62(19):1761-9.
Score: 0.028
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Genetic testing for dilated cardiomyopathy in clinical practice. J Card Fail. 2012 Apr; 18(4):296-303.
Score: 0.026
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Distinguishing arrhythmogenic right ventricular cardiomyopathy/dysplasia-associated mutations from background genetic noise. J Am Coll Cardiol. 2011 Jun 07; 57(23):2317-27.
Score: 0.024
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Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome. Sci Transl Med. 2010 Mar 17; 2(23):23ra20.
Score: 0.022
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Familial amyloid cardiomyopathy due to TTR mutations: an underdiagnosed cause of restrictive cardiomyopathy [corrected]. J Card Fail. 2009 Jun; 15(5):464.
Score: 0.021