Connection

Daniel Judge to Mutation

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

4.825
  1. Brown EE, Murray B, Vaishnav J, Tampakakis E, Barouch LA, James C, Murphy AM, Judge DP. Genetic Dilated Cardiomyopathy Due to TTN Variants Without Known Familial Disease. Circ Genom Precis Med. 2020 12; 13(6):e003082.
    View in: PubMed
    Score: 0.561
  2. Te Riele AS, James CA, Murray B, Tichnell C, Amat-Alarcon N, Burks K, Tandri H, Calkins H, Polydefkis M, Judge DP. 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: 0.401
  3. Judge DP, Chelko SP. Further evidence of harm from exercise in ARVD/C. J Am Coll Cardiol. 2015 Apr 14; 65(14):1451-3.
    View in: PubMed
    Score: 0.381
  4. Tan BY, Jain R, den Haan AD, Chen Y, Dalal D, Tandri H, Amat-Alarcon N, Daly A, Tichnell C, James C, Calkins H, Judge DP. 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: 0.278
  5. den Haan AD, Tan BY, Zikusoka MN, Lladó LI, Jain R, Daly A, Tichnell C, James C, Amat-Alarcon N, Abraham T, Russell SD, Bluemke DA, Calkins H, Dalal D, Judge DP. 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: 0.254
  6. Awad MM, Calkins H, Judge DP. 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: 0.234
  7. Awad MM, Dalal D, Tichnell C, James C, Tucker A, Abraham T, Spevak PJ, Calkins H, Judge DP. Recessive arrhythmogenic right ventricular dysplasia due to novel cryptic splice mutation in PKP2. Hum Mutat. 2006 Nov; 27(11):1157.
    View in: PubMed
    Score: 0.212
  8. Awad MM, Dalal D, Cho E, Amat-Alarcon N, James C, Tichnell C, Tucker A, Russell SD, Bluemke DA, Dietz HC, Calkins H, Judge DP. DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy. Am J Hum Genet. 2006 Jul; 79(1):136-42.
    View in: PubMed
    Score: 0.205
  9. Dalal D, Molin LH, Piccini J, Tichnell C, James C, Bomma C, Prakasa K, Towbin JA, Marcus FI, Spevak PJ, Bluemke DA, Abraham T, Russell SD, Calkins H, Judge DP. 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: 0.203
  10. Gan P, Baicu C, Watanabe H, Wang K, Tao G, Judge DP, Zile MR, Makita T, Mukherjee R, Sucov HM. 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: 0.142
  11. Judge DP, Kristen AV, Grogan M, Maurer MS, Falk RH, Hanna M, Gillmore J, Garg P, Vaishnaw AK, Harrop J, Powell C, Karsten V, Zhang X, Sweetser MT, Vest J, Hawkins PN. 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: 0.136
  12. Houston BA, Judge DP, Brown E, Halushka M, Barouch LA. 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: 0.111
  13. Judge DP, Okwuosa IS, Hagège AA. GLA-Ring Opportunities and Challenges for Fabry Disease. J Am Coll Cardiol. 2016 12 13; 68(23):2564-2566.
    View in: PubMed
    Score: 0.107
  14. Maurer MS, Hanna M, Grogan M, Dispenzieri A, Witteles R, Drachman B, Judge DP, Lenihan DJ, Gottlieb SS, Shah SJ, Steidley DE, Ventura H, Murali S, Silver MA, Jacoby D, Fedson S, Hummel SL, Kristen AV, Damy T, Planté-Bordeneuve V, Coelho T, Mundayat R, Suhr OB, Waddington Cruz M, Rapezzi C. 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: 0.104
  15. Damy T, Judge DP, Kristen AV, Berthet K, Li H, Aarts J. 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: 0.095
  16. Bhonsale A, Groeneweg JA, James CA, Dooijes D, Tichnell C, Jongbloed JD, Murray B, te Riele AS, van den Berg MP, Bikker H, Atsma DE, de Groot NM, Houweling AC, van der Heijden JF, Russell SD, Doevendans PA, van Veen TA, Tandri H, Wilde AA, Judge DP, van Tintelen JP, Calkins H, Hauer RN. 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: 0.094
  17. Sawant AC, Bhonsale A, te Riele AS, Tichnell C, Murray B, Russell SD, Tandri H, Tedford RJ, Judge DP, Calkins H, James CA. 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: 0.093
  18. Shenje LT, Andersen P, Halushka MK, Lui C, Fernandez L, Collin GB, Amat-Alarcon N, Meschino W, Cutz E, Chang K, Yonescu R, Batista DA, Chen Y, Chelko S, Crosson JE, Scheel J, Vricella L, Craig BD, Marosy BA, Mohr DW, Hetrick KN, Romm JM, Scott AF, Valle D, Naggert JK, Kwon C, Doheny KF, Judge DP. Mutations in Alström protein impair terminal differentiation of cardiomyocytes. Nat Commun. 2014 Mar 04; 5:3416.
    View in: PubMed
    Score: 0.088
  19. Merlini G, Planté-Bordeneuve V, Judge DP, Schmidt H, Obici L, Perlini S, Packman J, Tripp T, Grogan DR. 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: 0.086
  20. Te Riele AS, James CA, Philips B, Rastegar N, Bhonsale A, Groeneweg JA, Murray B, Tichnell C, Judge DP, Van Der Heijden JF, Cramer MJ, Velthuis BK, Bluemke DA, Zimmerman SL, Kamel IR, Hauer RN, Calkins H, Tandri H. 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: 0.085
  21. James CA, Bhonsale A, Tichnell C, Murray B, Russell SD, Tandri H, Tedford RJ, Judge DP, Calkins H. 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: 0.084
  22. te Riele AS, Bhonsale A, James CA, Rastegar N, Murray B, Burt JR, Tichnell C, Madhavan S, Judge DP, Bluemke DA, Zimmerman SL, Kamel IR, Calkins H, Tandri H. 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: 0.084
  23. Kane MS, Lindsay ME, Judge DP, Barrowman J, Ap Rhys C, Simonson L, Dietz HC, Michaelis S. 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: 0.083
  24. Gould RA, Sinha R, Aziz H, Rouf R, Dietz HC, Judge DP, Butcher J. 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: 0.080
  25. Loeys BL, Gerber EE, Riegert-Johnson D, Iqbal S, Whiteman P, McConnell V, Chillakuri CR, Macaya D, Coucke PJ, De Paepe A, Judge DP, Wigley F, Davis EC, Mardon HJ, Handford P, Keene DR, Sakai LY, Dietz HC. Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome. Sci Transl Med. 2010 Mar 17; 2(23):23ra20.
    View in: PubMed
    Score: 0.067
  26. Judge DP. Use of genetics in the clinical evaluation of cardiomyopathy. JAMA. 2009 Dec 09; 302(22):2471-6.
    View in: PubMed
    Score: 0.066
  27. Ruberg FL, Judge DP, Maurer MS. 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: 0.063
  28. Loeys BL, Chen J, Neptune ER, Judge DP, Podowski M, Holm T, Meyers J, Leitch CC, Katsanis N, Sharifi N, Xu FL, Myers LA, Spevak PJ, Cameron DE, De Backer J, Hellemans J, Chen Y, Davis EC, Webb CL, Kress W, Coucke P, Rifkin DB, De Paepe AM, Dietz HC. 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: 0.047
  29. Judge DP, Biery NJ, Keene DR, Geubtner J, Myers L, Huso DL, Sakai LY, Dietz HC. Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome. J Clin Invest. 2004 Jul; 114(2):172-81.
    View in: PubMed
    Score: 0.045
  30. Brun F, Gigli M, Graw SL, Judge DP, Merlo M, Murray B, Calkins H, Sinagra G, Taylor MR, Mestroni L, James CA. FLNC truncations cause arrhythmogenic right ventricular cardiomyopathy. J Med Genet. 2020 04; 57(4):254-257.
    View in: PubMed
    Score: 0.033
  31. van Lint FHM, Murray B, Tichnell C, Zwart R, Amat N, Lekanne Deprez RH, Dittmann S, Stallmeyer B, Calkins H, van der Smagt JJ, van den Wijngaard A, Dooijes D, van der Zwaag PA, Schulze-Bahr E, Judge DP, Jongbloed JDH, van Tintelen JP, James CA. Arrhythmogenic Right Ventricular Cardiomyopathy-Associated Desmosomal Variants Are Rarely De Novo. Circ Genom Precis Med. 2019 08; 12(8):e002467.
    View in: PubMed
    Score: 0.032
  32. Parikh VN, Caleshu C, Reuter C, Lazzeroni LC, Ingles J, Garcia J, McCaleb K, Adesiyun T, Sedaghat-Hamedani F, Kumar S, Graw S, Gigli M, Stolfo D, Dal Ferro M, Ing AY, Nussbaum R, Funke B, Wheeler MT, Hershberger RE, Cook S, Steinmetz LM, Lakdawala NK, Taylor MRG, Mestroni L, Merlo M, Sinagra G, Semsarian C, Meder B, Judge DP, Ashley E. Regional Variation in RBM20 Causes a Highly Penetrant Arrhythmogenic Cardiomyopathy. Circ Heart Fail. 2019 03; 12(3):e005371.
    View in: PubMed
    Score: 0.031
  33. Ebenezer GJ, Liu Y, Judge DP, Cunningham K, Truelove S, Carter ND, Sebastian B, Byrnes K, Polydefkis M. Cutaneous nerve biomarkers in transthyretin familial amyloid polyneuropathy. Ann Neurol. 2017 Jul; 82(1):44-56.
    View in: PubMed
    Score: 0.028
  34. Bales ND, Johnson NM, Judge DP, Murphy AM. Comprehensive Versus Targeted Genetic Testing in Children with Hypertrophic Cardiomyopathy. Pediatr Cardiol. 2016 Jun; 37(5):845-51.
    View in: PubMed
    Score: 0.025
  35. Asimaki A, Protonotarios A, James CA, Chelko SP, Tichnell C, Murray B, Tsatsopoulou A, Anastasakis A, te Riele A, Kléber AG, Judge DP, Calkins H, Saffitz JE. Characterizing the Molecular Pathology of Arrhythmogenic Cardiomyopathy in Patient Buccal Mucosa Cells. Circ Arrhythm Electrophysiol. 2016 Feb; 9(2):e003688.
    View in: PubMed
    Score: 0.025
  36. Maurer MS, Grogan DR, Judge DP, Mundayat R, Packman J, Lombardo I, Quyyumi AA, Aarts J, Falk RH. 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: 0.024
  37. Liu D, Wang CJ, Judge DP, Halushka MK, Ni J, Habashi JP, Moslehi J, Bedja D, Gabrielson KL, Xu H, Qian F, Huso D, Dietz HC, Germino GG, Watnick T. A Pkd1-Fbn1 genetic interaction implicates TGF-ß 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: 0.021
  38. Perrin MJ, Angaran P, Laksman Z, Zhang H, Porepa LF, Rutberg J, James C, Krahn AD, Judge DP, Calkins H, Gollob MH. 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: 0.021
  39. Bhonsale A, James CA, Tichnell C, Murray B, Madhavan S, Philips B, Russell SD, Abraham T, Tandri H, Judge DP, Calkins H. 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: 0.021
  40. Ruberg FL, Maurer MS, Judge DP, Zeldenrust S, Skinner M, Kim AY, Falk RH, Cheung KN, Patel AR, Pano A, Packman J, Grogan DR. 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: 0.020
  41. Dalal D, Tandri H, Judge DP, Amat N, Macedo R, Jain R, Tichnell C, Daly A, James C, Russell SD, Abraham T, Bluemke DA, Calkins H. 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: 0.016
  42. Frazier A, Judge DP, Schulman SP, Johnson N, Holmes KW, Murphy AM. 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: 0.014
  43. Chung AW, Au Yeung K, Sandor GG, Judge DP, Dietz HC, van Breemen C. 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: 0.014
  44. Habashi JP, Judge DP, Holm TM, Cohn RD, Loeys BL, Cooper TK, Myers L, Klein EC, Liu G, Calvi C, Podowski M, Neptune ER, Halushka MK, Bedja D, Gabrielson K, Rifkin DB, Carta L, Ramirez F, Huso DL, Dietz HC. 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: 0.013
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