Connection

Daniel Judge to Mutation

This is a "connection" page, showing publications Daniel Judge has written about Mutation.
Connection Strength

4.471
  1. Genetic Dilated Cardiomyopathy Due to TTN Variants Without Known Familial Disease. Circ Genom Precis Med. 2020 12; 13(6):e003082.
    View in: PubMed
    Score: 0.523
  2. Absence of a Primary Role for SCN10A Mutations in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy. J Cardiovasc Transl Res. 2016 Feb; 9(1):87-9.
    View in: PubMed
    Score: 0.373
  3. Further evidence of harm from exercise in ARVD/C. J Am Coll Cardiol. 2015 Apr 14; 65(14):1451-3.
    View in: PubMed
    Score: 0.355
  4. Shared desmosome gene findings in early and late onset arrhythmogenic right ventricular dysplasia/cardiomyopathy. J Cardiovasc Transl Res. 2010 Dec; 3(6):663-73.
    View in: PubMed
    Score: 0.259
  5. Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circ Cardiovasc Genet. 2009 Oct; 2(5):428-35.
    View in: PubMed
    Score: 0.236
  6. Mechanisms of disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Nat Clin Pract Cardiovasc Med. 2008 May; 5(5):258-67.
    View in: PubMed
    Score: 0.218
  7. Recessive arrhythmogenic right ventricular dysplasia due to novel cryptic splice mutation in PKP2. Hum Mutat. 2006 Nov; 27(11):1157.
    View in: PubMed
    Score: 0.198
  8. DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy. Am J Hum Genet. 2006 Jul; 79(1):136-42.
    View in: PubMed
    Score: 0.191
  9. Clinical features of arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in plakophilin-2. Circulation. 2006 Apr 04; 113(13):1641-9.
    View in: PubMed
    Score: 0.189
  10. 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.
    View in: PubMed
    Score: 0.132
  11. 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.
    View in: PubMed
    Score: 0.127
  12. 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.
    View in: PubMed
    Score: 0.103
  13. GLA-Ring Opportunities and Challenges for Fabry Disease. J Am Coll Cardiol. 2016 12 13; 68(23):2564-2566.
    View in: PubMed
    Score: 0.100
  14. Genotype and Phenotype of Transthyretin Cardiac Amyloidosis: THAOS (Transthyretin Amyloid Outcome Survey). J Am Coll Cardiol. 2016 07 12; 68(2):161-72.
    View in: PubMed
    Score: 0.097
  15. 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.
    View in: PubMed
    Score: 0.088
  16. 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.
    View in: PubMed
    Score: 0.087
  17. 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.
    View in: PubMed
    Score: 0.086
  18. Mutations in Alstr?m protein impair terminal differentiation of cardiomyocytes. Nat Commun. 2014 Mar 04; 5:3416.
    View in: PubMed
    Score: 0.082
  19. 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.
    View in: PubMed
    Score: 0.080
  20. Mutation-positive arrhythmogenic right ventricular dysplasia/cardiomyopathy: the triangle of dysplasia displaced. J Cardiovasc Electrophysiol. 2013 Dec; 24(12):1311-20.
    View in: PubMed
    Score: 0.079
  21. 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.
    View in: PubMed
    Score: 0.079
  22. 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.
    View in: PubMed
    Score: 0.078
  23. 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.
    View in: PubMed
    Score: 0.078
  24. Multi-scale biomechanical remodeling in aging and genetic mutant murine mitral valve leaflets: insights into Marfan syndrome. PLoS One. 2012; 7(9):e44639.
    View in: PubMed
    Score: 0.074
  25. Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome. Sci Transl Med. 2010 Mar 17; 2(23):23ra20.
    View in: PubMed
    Score: 0.062
  26. Use of genetics in the clinical evaluation of cardiomyopathy. JAMA. 2009 Dec 09; 302(22):2471-6.
    View in: PubMed
    Score: 0.061
  27. Familial amyloid cardiomyopathy due to TTR mutations: an underdiagnosed cause of restrictive cardiomyopathy [corrected]. J Card Fail. 2009 Jun; 15(5):464.
    View in: PubMed
    Score: 0.059
  28. 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.
    View in: PubMed
    Score: 0.044
  29. FLNC truncations cause arrhythmogenic right ventricular cardiomyopathy. J Med Genet. 2020 04; 57(4):254-257.
    View in: PubMed
    Score: 0.031
  30. Arrhythmogenic Right Ventricular Cardiomyopathy-Associated Desmosomal Variants Are Rarely De Novo. Circ Genom Precis Med. 2019 08; 12(8):e002467.
    View in: PubMed
    Score: 0.030
  31. Regional Variation in RBM20 Causes a Highly Penetrant Arrhythmogenic Cardiomyopathy. Circ Heart Fail. 2019 03; 12(3):e005371.
    View in: PubMed
    Score: 0.029
  32. Cutaneous nerve biomarkers in transthyretin familial amyloid polyneuropathy. Ann Neurol. 2017 Jul; 82(1):44-56.
    View in: PubMed
    Score: 0.026
  33. Comprehensive Versus Targeted Genetic Testing in Children with Hypertrophic Cardiomyopathy. Pediatr Cardiol. 2016 Jun; 37(5):845-51.
    View in: PubMed
    Score: 0.024
  34. Characterizing the Molecular Pathology of Arrhythmogenic Cardiomyopathy in Patient Buccal Mucosa Cells. Circ Arrhythm Electrophysiol. 2016 Feb; 9(2):e003688.
    View in: PubMed
    Score: 0.023
  35. Tafamidis in transthyretin amyloid cardiomyopathy: effects on transthyretin stabilization and clinical outcomes. Circ Heart Fail. 2015 May; 8(3):519-26.
    View in: PubMed
    Score: 0.022
  36. 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.
    View in: PubMed
    Score: 0.020
  37. 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.
    View in: PubMed
    Score: 0.020
  38. Risk stratification in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers. Circ Arrhythm Electrophysiol. 2013 Jun; 6(3):569-78.
    View in: PubMed
    Score: 0.019
  39. 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.
    View in: PubMed
    Score: 0.018
  40. 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.
    View in: PubMed
    Score: 0.018
  41. 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.
    View in: PubMed
    Score: 0.015
  42. Familial hypertrophic cardiomyopathy associated with cardiac beta-myosin heavy chain and troponin I mutations. Pediatr Cardiol. 2008 Jul; 29(4):846-50.
    View in: PubMed
    Score: 0.013
  43. 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.
    View in: PubMed
    Score: 0.013
  44. Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome. Science. 2006 Apr 07; 312(5770):117-21.
    View in: PubMed
    Score: 0.012
Connection Strength

The connection strength for concepts is the sum of the scores for each matching publication.

Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.