Daniel Judge to Mutation
This is a "connection" page, showing publications Daniel Judge has written about Mutation.
Connection Strength
4.490
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Genetic Dilated Cardiomyopathy Due to TTN Variants Without Known Familial Disease. Circ Genom Precis Med. 2020 12; 13(6):e003082.
Score: 0.525
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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: 0.375
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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: 0.356
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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: 0.260
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Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circ Cardiovasc Genet. 2009 Oct; 2(5):428-35.
Score: 0.237
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Mechanisms of disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Nat Clin Pract Cardiovasc Med. 2008 May; 5(5):258-67.
Score: 0.219
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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: 0.198
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DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy. Am J Hum Genet. 2006 Jul; 79(1):136-42.
Score: 0.192
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Clinical features of arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in plakophilin-2. Circulation. 2006 Apr 04; 113(13):1641-9.
Score: 0.190
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The prevalent I686T human variant and loss-of-function mutations in the cardiomyocyte-specific kinase gene TNNI3K cause adverse contractility and concentric remodeling in mice. Hum Mol Genet. 2021 01 06; 29(21):3504-3515.
Score: 0.133
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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: 0.127
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Giant Ring Mitochondria in a Patient With Heart Failure and Cerebral White Matter Disease Resulting From an MT-TL1 Mitochondrial Gene Mutation. J Card Fail. 2017 Aug; 23(8):652-655.
Score: 0.104
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GLA-Ring Opportunities and Challenges for Fabry Disease. J Am Coll Cardiol. 2016 12 13; 68(23):2564-2566.
Score: 0.100
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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: 0.097
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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: 0.088
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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: 0.088
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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: 0.087
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Mutations in Alstr?m protein impair terminal differentiation of cardiomyocytes. Nat Commun. 2014 Mar 04; 5:3416.
Score: 0.082
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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: 0.080
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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: 0.079
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Exercise increases age-related penetrance and arrhythmic risk in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers. J Am Coll Cardiol. 2013 Oct 01; 62(14):1290-1297.
Score: 0.079
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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: 0.079
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LMNA-associated cardiocutaneous progeria: an inherited autosomal dominant premature aging syndrome with late onset. Am J Med Genet A. 2013 Jul; 161A(7):1599-611.
Score: 0.078
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Multi-scale biomechanical remodeling in aging and genetic mutant murine mitral valve leaflets: insights into Marfan syndrome. PLoS One. 2012; 7(9):e44639.
Score: 0.074
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Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome. Sci Transl Med. 2010 Mar 17; 2(23):23ra20.
Score: 0.063
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Use of genetics in the clinical evaluation of cardiomyopathy. JAMA. 2009 Dec 09; 302(22):2471-6.
Score: 0.062
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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: 0.059
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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: 0.044
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FLNC truncations cause arrhythmogenic right ventricular cardiomyopathy. J Med Genet. 2020 04; 57(4):254-257.
Score: 0.031
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Arrhythmogenic Right Ventricular Cardiomyopathy-Associated Desmosomal Variants Are Rarely De Novo. Circ Genom Precis Med. 2019 08; 12(8):e002467.
Score: 0.030
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Regional Variation in RBM20 Causes a Highly Penetrant Arrhythmogenic Cardiomyopathy. Circ Heart Fail. 2019 03; 12(3):e005371.
Score: 0.029
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Cutaneous nerve biomarkers in transthyretin familial amyloid polyneuropathy. Ann Neurol. 2017 Jul; 82(1):44-56.
Score: 0.026
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Comprehensive Versus Targeted Genetic Testing in Children with Hypertrophic Cardiomyopathy. Pediatr Cardiol. 2016 Jun; 37(5):845-51.
Score: 0.024
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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: 0.024
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Tafamidis in transthyretin amyloid cardiomyopathy: effects on transthyretin stabilization and clinical outcomes. Circ Heart Fail. 2015 May; 8(3):519-26.
Score: 0.022
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A Pkd1-Fbn1 genetic interaction implicates TGF-? signaling in the pathogenesis of vascular complications in autosomal dominant polycystic kidney disease. J Am Soc Nephrol. 2014 Jan; 25(1):81-91.
Score: 0.020
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Exercise testing in asymptomatic gene carriers exposes a latent electrical substrate of arrhythmogenic right ventricular cardiomyopathy. J Am Coll Cardiol. 2013 Nov 05; 62(19):1772-9.
Score: 0.020
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Risk stratification in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers. Circ Arrhythm Electrophysiol. 2013 Jun; 6(3):569-78.
Score: 0.020
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Prospective evaluation of the morbidity and mortality of wild-type and V122I mutant transthyretin amyloid cardiomyopathy: the Transthyretin Amyloidosis Cardiac Study (TRACS). Am Heart J. 2012 Aug; 164(2):222-228.e1.
Score: 0.018
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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: 0.018
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Morphologic variants of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy a genetics-magnetic resonance imaging correlation study. J Am Coll Cardiol. 2009 Apr 14; 53(15):1289-99.
Score: 0.015
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Familial hypertrophic cardiomyopathy associated with cardiac beta-myosin heavy chain and troponin I mutations. Pediatr Cardiol. 2008 Jul; 29(4):846-50.
Score: 0.013
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Loss of elastic fiber integrity and reduction of vascular smooth muscle contraction resulting from the upregulated activities of matrix metalloproteinase-2 and -9 in the thoracic aortic aneurysm in Marfan syndrome. Circ Res. 2007 Aug 31; 101(5):512-22.
Score: 0.013
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Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome. Science. 2006 Apr 07; 312(5770):117-21.
Score: 0.012