Harvard Catalyst Profiles

Contact, publication, and social network information about Harvard faculty and fellows.

Christine Edry Seidman, M.D.

Co-Author

This page shows the publications co-authored by Christine Seidman and Jonathan Seidman.
Connection Strength

22.973
  1. Identifying sarcomere gene mutations in hypertrophic cardiomyopathy: a personal history. Circ Res. 2011 Mar 18; 108(6):743-50.
    View in: PubMed
    Score: 0.477
  2. Transcription factor haploinsufficiency: when half a loaf is not enough. J Clin Invest. 2002 Feb; 109(4):451-5.
    View in: PubMed
    Score: 0.253
  3. The coming of age of cardiovascular science. Cold Spring Harb Symp Quant Biol. 2002; 67:543-50.
    View in: PubMed
    Score: 0.252
  4. Contribution of Noncanonical Splice Variants to TTN Truncating Variant Cardiomyopathy. Circ Genom Precis Med. 2021 10; 14(5):e003389.
    View in: PubMed
    Score: 0.246
  5. LAMP2 Cardiomyopathy: Consequences of Impaired Autophagy in the Heart. J Am Heart Assoc. 2021 09 07; 10(17):e018829.
    View in: PubMed
    Score: 0.246
  6. Filamin C Cardiomyopathy Variants Cause Protein and Lysosome Accumulation. Circ Res. 2021 Sep 17; 129(7):751-766.
    View in: PubMed
    Score: 0.245
  7. Genomic frontiers in congenital heart disease. Nat Rev Cardiol. 2021 Jul 16.
    View in: PubMed
    Score: 0.244
  8. Isolation of Nuclei from Mammalian Cells and Tissues for Single-Nucleus Molecular Profiling. Curr Protoc. 2021 May; 1(5):e132.
    View in: PubMed
    Score: 0.240
  9. Association of Damaging Variants in Genes With Increased Cancer Risk Among Patients With Congenital Heart Disease. JAMA Cardiol. 2021 Apr 01; 6(4):457-462.
    View in: PubMed
    Score: 0.239
  10. Discordant clinical features of identical hypertrophic cardiomyopathy twins. Proc Natl Acad Sci U S A. 2021 03 09; 118(10).
    View in: PubMed
    Score: 0.238
  11. The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms. Cell. 2001 Feb 23; 104(4):557-67.
    View in: PubMed
    Score: 0.237
  12. Mechanisms of Congenital Heart Disease Caused by NAA15 Haploinsufficiency. Circ Res. 2021 Apr 16; 128(8):1156-1169.
    View in: PubMed
    Score: 0.237
  13. Founder Mutation in N Terminus of Cardiac Troponin I Causes Malignant Hypertrophic Cardiomyopathy. Circ Genom Precis Med. 2020 10; 13(5):444-452.
    View in: PubMed
    Score: 0.230
  14. De Novo Damaging Variants, Clinical Phenotypes, and Post-Operative Outcomes in Congenital Heart Disease. Circ Genom Precis Med. 2020 08; 13(4):e002836.
    View in: PubMed
    Score: 0.227
  15. Myosin Sequestration Regulates Sarcomere Function, Cardiomyocyte Energetics, and Metabolism, Informing the Pathogenesis of Hypertrophic Cardiomyopathy. Circulation. 2020 03 10; 141(10):828-842.
    View in: PubMed
    Score: 0.220
  16. Precision Medicine in the Management of Dilated Cardiomyopathy: JACC State-of-the-Art Review. J Am Coll Cardiol. 2019 12 10; 74(23):2921-2938.
    View in: PubMed
    Score: 0.218
  17. Novel Therapies for Prevention and Early Treatment of Cardiomyopathies. Circ Res. 2019 05 24; 124(11):1536-1550.
    View in: PubMed
    Score: 0.210
  18. Genetic Variants Associated With Cancer Therapy-Induced Cardiomyopathy. Circulation. 2019 07 02; 140(1):31-41.
    View in: PubMed
    Score: 0.209
  19. Advances in the Genetic Basis and Pathogenesis of Sarcomere Cardiomyopathies. Annu Rev Genomics Hum Genet. 2019 08 31; 20:129-153.
    View in: PubMed
    Score: 0.208
  20. SarcTrack. Circ Res. 2019 04 12; 124(8):1172-1183.
    View in: PubMed
    Score: 0.208
  21. Hypertrophic cardiomyopathy mutations in MYBPC3 dysregulate myosin. Sci Transl Med. 2019 01 23; 11(476).
    View in: PubMed
    Score: 0.205
  22. The Transcriptional Signature of Growth in Human Fetal Aortic Valve Development. Ann Thorac Surg. 2018 12; 106(6):1834-1840.
    View in: PubMed
    Score: 0.199
  23. Genetic Pathogenesis of Hypertrophic and Dilated Cardiomyopathy. Heart Fail Clin. 2018 Apr; 14(2):139-146.
    View in: PubMed
    Score: 0.194
  24. Molecular genetic studies of familial hypertrophic cardiomyopathy. Basic Res Cardiol. 1998; 93 Suppl 3:13-6.
    View in: PubMed
    Score: 0.191
  25. Cardiovascular homeostasis dependence on MICU2, a regulatory subunit of the mitochondrial calcium uniporter. Proc Natl Acad Sci U S A. 2017 10 24; 114(43):E9096-E9104.
    View in: PubMed
    Score: 0.188
  26. Identification of pathogenic gene mutations in LMNA and MYBPC3 that alter RNA splicing. Proc Natl Acad Sci U S A. 2017 07 18; 114(29):7689-7694.
    View in: PubMed
    Score: 0.184
  27. Integrative Analysis of PRKAG2 Cardiomyopathy iPS and Microtissue Models Identifies AMPK as a Regulator of Metabolism, Survival, and Fibrosis. Cell Rep. 2017 06 13; 19(11):2410.
    View in: PubMed
    Score: 0.184
  28. Clinical and Mechanistic Insights Into the Genetics of Cardiomyopathy. J Am Coll Cardiol. 2016 Dec 27; 68(25):2871-2886.
    View in: PubMed
    Score: 0.178
  29. Integrative Analysis of PRKAG2 Cardiomyopathy iPS and Microtissue Models Identifies AMPK as a Regulator of Metabolism, Survival, and Fibrosis. Cell Rep. 2016 12 20; 17(12):3292-3304.
    View in: PubMed
    Score: 0.178
  30. Single-Cell Resolution of Temporal Gene Expression during Heart Development. Dev Cell. 2016 11 21; 39(4):480-490.
    View in: PubMed
    Score: 0.176
  31. Loss of RNA expression and allele-specific expression associated with congenital heart disease. Nat Commun. 2016 09 27; 7:12824.
    View in: PubMed
    Score: 0.175
  32. Detection of Cell Proliferation Markers by Immunofluorescence Staining and Microscopy Imaging in Paraffin-Embedded Tissue Sections. Curr Protoc Mol Biol. 2016 07 01; 115:14.25.1-14.25.14.
    View in: PubMed
    Score: 0.172
  33. Molecular profiling of dilated cardiomyopathy that progresses to heart failure. JCI Insight. 2016 May 05; 1(6).
    View in: PubMed
    Score: 0.170
  34. A small-molecule inhibitor of sarcomere contractility suppresses hypertrophic cardiomyopathy in mice. Science. 2016 Feb 05; 351(6273):617-21.
    View in: PubMed
    Score: 0.167
  35. HEART DISEASE. Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy. Science. 2015 Aug 28; 349(6251):982-6.
    View in: PubMed
    Score: 0.162
  36. Cardiac myosin binding protein C regulates postnatal myocyte cytokinesis. Proc Natl Acad Sci U S A. 2015 Jul 21; 112(29):9046-51.
    View in: PubMed
    Score: 0.161
  37. UBQLN2 mutation causing heterogeneous X-linked dominant neurodegeneration. Ann Neurol. 2014 May; 75(5):793-798.
    View in: PubMed
    Score: 0.148
  38. 5'RNA-Seq identifies Fhl1 as a genetic modifier in cardiomyopathy. J Clin Invest. 2014 Mar; 124(3):1364-70.
    View in: PubMed
    Score: 0.146
  39. Genetics and disease of ventricular muscle. Cold Spring Harb Perspect Med. 2014 Jan 01; 4(1):a021063.
    View in: PubMed
    Score: 0.145
  40. Increased burden of cardiovascular disease in carriers of APOL1 genetic variants. Circ Res. 2014 Feb 28; 114(5):845-50.
    View in: PubMed
    Score: 0.145
  41. Allele-specific silencing of mutant Myh6 transcripts in mice suppresses hypertrophic cardiomyopathy. Science. 2013 Oct 04; 342(6154):111-4.
    View in: PubMed
    Score: 0.142
  42. HOXA2 haploinsufficiency in dominant bilateral microtia and hearing loss. Hum Mutat. 2013 Oct; 34(10):1347-51.
    View in: PubMed
    Score: 0.140
  43. Genetics of congenital heart disease: the glass half empty. Circ Res. 2013 Feb 15; 112(4):707-20.
    View in: PubMed
    Score: 0.136
  44. Hypertrophic cardiomyopathy: translating cellular cross talk into therapeutics. J Cell Biol. 2012 Oct 29; 199(3):417-21.
    View in: PubMed
    Score: 0.133
  45. Burden of rare sarcomere gene variants in the Framingham and Jackson Heart Study cohorts. Am J Hum Genet. 2012 Sep 07; 91(3):513-9.
    View in: PubMed
    Score: 0.132
  46. Spectrum of somatic mitochondrial mutations in five cancers. Proc Natl Acad Sci U S A. 2012 Aug 28; 109(35):14087-91.
    View in: PubMed
    Score: 0.131
  47. Truncations of titin causing dilated cardiomyopathy. N Engl J Med. 2012 Feb 16; 366(7):619-28.
    View in: PubMed
    Score: 0.127
  48. cis-dominance of rat atrial natriuretic factor gene regulatory sequences in transgenic mice. Can J Physiol Pharmacol. 1991 Oct; 69(10):1486-92.
    View in: PubMed
    Score: 0.124
  49. Genome-wide assessment for genetic variants associated with ventricular dysfunction after primary coronary artery bypass graft surgery. PLoS One. 2011; 6(9):e24593.
    View in: PubMed
    Score: 0.124
  50. Mutations in cardiac myosin heavy chain genes cause familial hypertrophic cardiomyopathy. Mol Biol Med. 1991 Apr; 8(2):159-66.
    View in: PubMed
    Score: 0.119
  51. Transcription factor genes Smad4 and Gata4 cooperatively regulate cardiac valve development. [corrected] Proc Natl Acad Sci U S A. 2011 Mar 08; 108(10):4006-11.
    View in: PubMed
    Score: 0.118
  52. Heterogeneous myocyte enhancer factor-2 (Mef2) activation in myocytes predicts focal scarring in hypertrophic cardiomyopathy. Proc Natl Acad Sci U S A. 2010 Oct 19; 107(42):18097-102.
    View in: PubMed
    Score: 0.116
  53. Cardiac fibrosis in mice with hypertrophic cardiomyopathy is mediated by non-myocyte proliferation and requires Tgf-ß. J Clin Invest. 2010 Oct; 120(10):3520-9.
    View in: PubMed
    Score: 0.115
  54. Myocardial fibrosis as an early manifestation of hypertrophic cardiomyopathy. N Engl J Med. 2010 Aug 05; 363(6):552-63.
    View in: PubMed
    Score: 0.114
  55. Sarcomere gene mutations in hypertrophy and heart failure. J Cardiovasc Transl Res. 2010 Aug; 3(4):297-303.
    View in: PubMed
    Score: 0.113
  56. Genetics of hypertrophic cardiomyopathy. Curr Opin Cardiol. 2010 May; 25(3):205-9.
    View in: PubMed
    Score: 0.112
  57. Narrative review: harnessing molecular genetics for the diagnosis and management of hypertrophic cardiomyopathy. Ann Intern Med. 2010 Apr 20; 152(8):513-20, W181.
    View in: PubMed
    Score: 0.112
  58. [Using molecular genetics to guide the diagnosis and treatment of hypertrophic cardiomyopathy]. Zhonghua Xin Xue Guan Bing Za Zhi. 2009 Dec; 37(12):1063-8.
    View in: PubMed
    Score: 0.109
  59. A classic twin study of external ear malformations, including microtia. N Engl J Med. 2009 Sep 17; 361(12):1216-8.
    View in: PubMed
    Score: 0.107
  60. Locus for familial migrainous vertigo disease maps to chromosome 5q35. Ann Otol Rhinol Laryngol. 2009 Sep; 118(9):670-6.
    View in: PubMed
    Score: 0.107
  61. De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot. Nat Genet. 2009 Aug; 41(8):931-5.
    View in: PubMed
    Score: 0.106
  62. Filter-based hybridization capture of subgenomes enables resequencing and copy-number detection. Nat Methods. 2009 Jul; 6(7):507-10.
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    Score: 0.106
  63. Clinical outcome and phenotypic expression in LAMP2 cardiomyopathy. JAMA. 2009 Mar 25; 301(12):1253-9.
    View in: PubMed
    Score: 0.104
  64. Eya4 regulation of Na+/K+-ATPase is required for sensory system development in zebrafish. Development. 2008 Oct; 135(20):3425-34.
    View in: PubMed
    Score: 0.100
  65. The role of cardiac troponin T quantity and function in cardiac development and dilated cardiomyopathy. PLoS One. 2008 Jul 09; 3(7):e2642.
    View in: PubMed
    Score: 0.099
  66. Cis-acting sequences that modulate atrial natriuretic factor gene expression. Proc Natl Acad Sci U S A. 1988 Jun; 85(11):4104-8.
    View in: PubMed
    Score: 0.098
  67. Shared genetic causes of cardiac hypertrophy in children and adults. N Engl J Med. 2008 May 01; 358(18):1899-908.
    View in: PubMed
    Score: 0.097
  68. Eya4-deficient mice are a model for heritable otitis media. J Clin Invest. 2008 Feb; 118(2):651-8.
    View in: PubMed
    Score: 0.096
  69. Lamin A/C haploinsufficiency causes dilated cardiomyopathy and apoptosis-triggered cardiac conduction system disease. J Mol Cell Cardiol. 2008 Feb; 44(2):293-303.
    View in: PubMed
    Score: 0.095
  70. Genetic basis of hypertrophic cardiomyopathy: from bench to the clinics. J Cardiovasc Electrophysiol. 2008 Jan; 19(1):104-10.
    View in: PubMed
    Score: 0.094
  71. Calsequestrin 2 (CASQ2) mutations increase expression of calreticulin and ryanodine receptors, causing catecholaminergic polymorphic ventricular tachycardia. J Clin Invest. 2007 Jul; 117(7):1814-23.
    View in: PubMed
    Score: 0.092
  72. A molecular pathway including Id2, Tbx5, and Nkx2-5 required for cardiac conduction system development. Cell. 2007 Jun 29; 129(7):1365-76.
    View in: PubMed
    Score: 0.092
  73. Polony multiplex analysis of gene expression (PMAGE) in mouse hypertrophic cardiomyopathy. Science. 2007 Jun 08; 316(5830):1481-4.
    View in: PubMed
    Score: 0.092
  74. AMP-activated protein kinase in the heart: role during health and disease. Circ Res. 2007 Mar 02; 100(4):474-88.
    View in: PubMed
    Score: 0.090
  75. Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome. N Engl J Med. 2007 Feb 22; 356(8):809-19.
    View in: PubMed
    Score: 0.090
  76. Cardiac myosin missense mutations cause dilated cardiomyopathy in mouse models and depress molecular motor function. Proc Natl Acad Sci U S A. 2006 Sep 26; 103(39):14525-30.
    View in: PubMed
    Score: 0.087
  77. Cardiovascular genomics. Circulation. 2006 Mar 21; 113(11):e450-5.
    View in: PubMed
    Score: 0.084
  78. Sarcomere protein gene mutations and inherited heart disease: a beta-cardiac myosin heavy chain mutation causing endocardial fibroelastosis and heart failure. Novartis Found Symp. 2006; 274:176-89; discussion 189-95, 272-6.
    View in: PubMed
    Score: 0.083
  79. Somatic events modify hypertrophic cardiomyopathy pathology and link hypertrophy to arrhythmia. Proc Natl Acad Sci U S A. 2005 Dec 13; 102(50):18123-8.
    View in: PubMed
    Score: 0.083
  80. Increased alpha2 subunit-associated AMPK activity and PRKAG2 cardiomyopathy. Circulation. 2005 Nov 15; 112(20):3140-8.
    View in: PubMed
    Score: 0.082
  81. Gene mutations in apical hypertrophic cardiomyopathy. Circulation. 2005 Nov 01; 112(18):2805-11.
    View in: PubMed
    Score: 0.082
  82. Connexin 40, a target of transcription factor Tbx5, patterns wrist, digits, and sternum. Mol Cell Biol. 2005 Jun; 25(12):5073-83.
    View in: PubMed
    Score: 0.080
  83. Molecular studies of the atrial natriuretic factor gene. Hypertension. 1985 May-Jun; 7(3 Pt 2):I31-4.
    View in: PubMed
    Score: 0.079
  84. Genetic causes of human heart failure. J Clin Invest. 2005 Mar; 115(3):518-26.
    View in: PubMed
    Score: 0.078
  85. Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss. Nat Genet. 2005 Apr; 37(4):418-22.
    View in: PubMed
    Score: 0.078
  86. Glycogen storage diseases presenting as hypertrophic cardiomyopathy. N Engl J Med. 2005 Jan 27; 352(4):362-72.
    View in: PubMed
    Score: 0.078
  87. The genetic basis for cardiac remodeling. Annu Rev Genomics Hum Genet. 2005; 6:185-216.
    View in: PubMed
    Score: 0.077
  88. Nucleotide sequences of the human and mouse atrial natriuretic factor genes. Science. 1984 Dec 07; 226(4679):1206-9.
    View in: PubMed
    Score: 0.077
  89. Proposal for contemporary screening strategies in families with hypertrophic cardiomyopathy. J Am Coll Cardiol. 2004 Dec 07; 44(11):2125-32.
    View in: PubMed
    Score: 0.077
  90. The T-Box transcription factor Tbx5 is required for the patterning and maturation of the murine cardiac conduction system. Development. 2004 Aug; 131(16):4107-16.
    View in: PubMed
    Score: 0.075
  91. The structure of rat preproatrial natriuretic factor as defined by a complementary DNA clone. Science. 1984 Jul 20; 225(4659):324-6.
    View in: PubMed
    Score: 0.075
  92. Consequences of pressure overload on sarcomere protein mutation-induced hypertrophic cardiomyopathy. Circulation. 2003 Sep 02; 108(9):1133-8.
    View in: PubMed
    Score: 0.070
  93. Transgenic mice overexpressing mutant PRKAG2 define the cause of Wolff-Parkinson-White syndrome in glycogen storage cardiomyopathy. Circulation. 2003 Jun 10; 107(22):2850-6.
    View in: PubMed
    Score: 0.069
  94. Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban. Science. 2003 Feb 28; 299(5611):1410-3.
    View in: PubMed
    Score: 0.068
  95. Phenotypic diversity in hypertrophic cardiomyopathy. Hum Mol Genet. 2002 Oct 01; 11(20):2499-506.
    View in: PubMed
    Score: 0.066
  96. The L-type calcium channel inhibitor diltiazem prevents cardiomyopathy in a mouse model. J Clin Invest. 2002 Apr; 109(8):1013-20.
    View in: PubMed
    Score: 0.064
  97. Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy. J Clin Invest. 2002 Feb; 109(3):357-62.
    View in: PubMed
    Score: 0.063
  98. Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly. Circulation. 2002 Jan 29; 105(4):446-51.
    View in: PubMed
    Score: 0.063
  99. Causes of clinical diversity in human TBX5 mutations. Cold Spring Harb Symp Quant Biol. 2002; 67:115-20.
    View in: PubMed
    Score: 0.063
  100. Molecular epidemiology of hypertrophic cardiomyopathy. Cold Spring Harb Symp Quant Biol. 2002; 67:383-8.
    View in: PubMed
    Score: 0.063
  101. Ventricular arrhythmia vulnerability in cardiomyopathic mice with homozygous mutant Myosin-binding protein C gene. Circulation. 2001 Nov 27; 104(22):2734-9.
    View in: PubMed
    Score: 0.063
  102. A polymorphic modifier gene alters the hypertrophic response in a murine model of familial hypertrophic cardiomyopathy. J Mol Cell Cardiol. 2001 Nov; 33(11):2055-60.
    View in: PubMed
    Score: 0.062
  103. Plakophilin-2 truncating variants impair cardiac contractility by disrupting sarcomere stability and organization. Sci Adv. 2021 Oct 15; 7(42):eabh3995.
    View in: PubMed
    Score: 0.062
  104. A murine model of Holt-Oram syndrome defines roles of the T-box transcription factor Tbx5 in cardiogenesis and disease. Cell. 2001 Sep 21; 106(6):709-21.
    View in: PubMed
    Score: 0.062
  105. Development of left ventricular hypertrophy in adults in hypertrophic cardiomyopathy caused by cardiac myosin-binding protein C gene mutations. J Am Coll Cardiol. 2001 Aug; 38(2):315-21.
    View in: PubMed
    Score: 0.061
  106. Cardiomyocyte Proliferative Capacity Is Restricted in Mice With Lmna Mutation. Front Cardiovasc Med. 2021; 8:639148.
    View in: PubMed
    Score: 0.061
  107. CalTrack: High-Throughput Automated Calcium Transient Analysis in Cardiomyocytes. Circ Res. 2021 Jul 09; 129(2):326-341.
    View in: PubMed
    Score: 0.060
  108. Genetic and Phenotypic Landscape of Peripartum Cardiomyopathy. Circulation. 2021 May 11; 143(19):1852-1862.
    View in: PubMed
    Score: 0.060
  109. Comparison of two murine models of familial hypertrophic cardiomyopathy. Circ Res. 2001 Mar 02; 88(4):383-9.
    View in: PubMed
    Score: 0.059
  110. Cardiomyopathy in Irx4-deficient mice is preceded by abnormal ventricular gene expression. Mol Cell Biol. 2001 Mar; 21(5):1730-6.
    View in: PubMed
    Score: 0.059
  111. Probing the subcellular nanostructure of engineered human cardiomyocytes in 3D tissue. Microsyst Nanoeng. 2021; 7:10.
    View in: PubMed
    Score: 0.059
  112. Modeling Human TBX5 Haploinsufficiency Predicts Regulatory Networks for Congenital Heart Disease. Dev Cell. 2021 02 08; 56(3):292-309.e9.
    View in: PubMed
    Score: 0.059
  113. Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. N Engl J Med. 2000 Dec 07; 343(23):1688-96.
    View in: PubMed
    Score: 0.058
  114. An abnormal Ca(2+) response in mutant sarcomere protein-mediated familial hypertrophic cardiomyopathy. J Clin Invest. 2000 Dec; 106(11):1351-9.
    View in: PubMed
    Score: 0.058
  115. Rare genetic variation at transcription factor binding sites modulates local DNA methylation profiles. PLoS Genet. 2020 11; 16(11):e1009189.
    View in: PubMed
    Score: 0.058
  116. Homozygous mutation in cardiac troponin T: implications for hypertrophic cardiomyopathy. Circulation. 2000 Oct 17; 102(16):1950-5.
    View in: PubMed
    Score: 0.058
  117. GATA6 mutations in hiPSCs inform mechanisms for maldevelopment of the heart, pancreas, and diaphragm. Elife. 2020 10 15; 9.
    View in: PubMed
    Score: 0.058
  118. Cells of the adult human heart. Nature. 2020 12; 588(7838):466-472.
    View in: PubMed
    Score: 0.058
  119. Genetic Studies of Hypertrophic Cardiomyopathy in Singaporeans Identify Variants in TNNI3 and TNNT2 That Are Common in Chinese Patients. Circ Genom Precis Med. 2020 10; 13(5):424-434.
    View in: PubMed
    Score: 0.057
  120. BET bromodomain proteins regulate transcriptional reprogramming in genetic dilated cardiomyopathy. JCI Insight. 2020 08 06; 5(15).
    View in: PubMed
    Score: 0.057
  121. Genomic analyses implicate noncoding de novo variants in congenital heart disease. Nat Genet. 2020 08; 52(8):769-777.
    View in: PubMed
    Score: 0.057
  122. Congenital Heart Defects Due to TAF1 Missense Variants. Circ Genom Precis Med. 2020 06; 13(3):e002843.
    View in: PubMed
    Score: 0.056
  123. EM-mosaic detects mosaic point mutations that contribute to congenital heart disease. Genome Med. 2020 04 29; 12(1):42.
    View in: PubMed
    Score: 0.056
  124. Marked Up-Regulation of ACE2 in Hearts of Patients With Obstructive Hypertrophic Cardiomyopathy: Implications for SARS-CoV-2-Mediated COVID-19. Mayo Clin Proc. 2020 07; 95(7):1354-1368.
    View in: PubMed
    Score: 0.056
  125. Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants. Am Heart J. 2020 07; 225:108-119.
    View in: PubMed
    Score: 0.056
  126. Dilated cardiomyopathy and sensorineural hearing loss: a heritable syndrome that maps to 6q23-24. Circulation. 2000 Apr 18; 101(15):1812-8.
    View in: PubMed
    Score: 0.056
  127. Hypertrophic cardiomyopathy in myosin-binding protein C (MYBPC3) Icelandic founder mutation carriers. Open Heart. 2020; 7(1):e001220.
    View in: PubMed
    Score: 0.056
  128. Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome maps to chromosome 15q. Am J Hum Genet. 2000 Apr; 66(4):1443-8.
    View in: PubMed
    Score: 0.056
  129. Abnormal Left-Hemispheric Sulcal Patterns Correlate with Neurodevelopmental Outcomes in Subjects with Single Ventricular Congenital Heart Disease. Cereb Cortex. 2020 03 21; 30(2):476-487.
    View in: PubMed
    Score: 0.056
  130. Correction: Exome-wide association study reveals novel susceptibility genes to sporadic dilated cardiomyopathy. PLoS One. 2020; 15(2):e0229472.
    View in: PubMed
    Score: 0.055
  131. Cardiac expression of the ventricle-specific homeobox gene Irx4 is modulated by Nkx2-5 and dHand. Dev Biol. 2000 Jan 15; 217(2):266-77.
    View in: PubMed
    Score: 0.055
  132. Mutations in COCH (formerly Coch5b2) cause DFNA9. Adv Otorhinolaryngol. 2000; 56:101-2.
    View in: PubMed
    Score: 0.055
  133. ORE identifies extreme expression effects enriched for rare variants. Bioinformatics. 2019 10 15; 35(20):3906-3912.
    View in: PubMed
    Score: 0.054
  134. Yin Yang 1 Suppresses Dilated Cardiomyopathy and Cardiac Fibrosis Through Regulation of Bmp7 and Ctgf. Circ Res. 2019 10 11; 125(9):834-846.
    View in: PubMed
    Score: 0.054
  135. Hereditary postlingual sensorineural hearing loss mapping to chromosome Xq21. Am J Otol. 1999 Sep; 20(5):621-6.
    View in: PubMed
    Score: 0.054
  136. Paternal-age-related de novo mutations and risk for five disorders. Nat Commun. 2019 07 10; 10(1):3043.
    View in: PubMed
    Score: 0.053
  137. Chamber-specific cardiac expression of Tbx5 and heart defects in Holt-Oram syndrome. Dev Biol. 1999 Jul 01; 211(1):100-8.
    View in: PubMed
    Score: 0.053
  138. Familial hypertrophic cardiomyopathy and atrial fibrillation caused by Arg663His beta-cardiac myosin heavy chain mutation. Am J Cardiol. 1999 Jun 17; 83(12A):13H-18H.
    View in: PubMed
    Score: 0.053
  139. The Translational Landscape of the Human Heart. Cell. 2019 06 27; 178(1):242-260.e29.
    View in: PubMed
    Score: 0.053
  140. Sex differences in gene expression in response to ischemia in the human left ventricular myocardium. Hum Mol Genet. 2019 05 15; 28(10):1682-1693.
    View in: PubMed
    Score: 0.052
  141. Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations. Proc Natl Acad Sci U S A. 1999 Mar 16; 96(6):2919-24.
    View in: PubMed
    Score: 0.052
  142. Activin type II receptor signaling in cardiac aging and heart failure. Sci Transl Med. 2019 03 06; 11(482).
    View in: PubMed
    Score: 0.052
  143. Familial dilated cardiomyopathy locus maps to chromosome 2q31. Circulation. 1999 Mar 02; 99(8):1022-6.
    View in: PubMed
    Score: 0.052
  144. Neonatal cardiomyopathy in mice homozygous for the Arg403Gln mutation in the alpha cardiac myosin heavy chain gene. J Clin Invest. 1999 Jan; 103(1):147-53.
    View in: PubMed
    Score: 0.051
  145. Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction. Nat Genet. 1998 Nov; 20(3):299-303.
    View in: PubMed
    Score: 0.051
  146. Association of Variants in BAG3 With Cardiomyopathy Outcomes in African American Individuals. JAMA Cardiol. 2018 10 01; 3(10):929-938.
    View in: PubMed
    Score: 0.050
  147. Response to Brodehl et al. Genet Med. 2019 05; 21(5):1248-1249.
    View in: PubMed
    Score: 0.050
  148. Hierarchical and stage-specific regulation of murine cardiomyocyte maturation by serum response factor. Nat Commun. 2018 09 21; 9(1):3837.
    View in: PubMed
    Score: 0.050
  149. Telomere shortening is a hallmark of genetic cardiomyopathies. Proc Natl Acad Sci U S A. 2018 09 11; 115(37):9276-9281.
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  293. Tbx5-dependent rheostatic control of cardiac gene expression and morphogenesis. Dev Biol. 2006 Sep 15; 297(2):566-86.
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  294. Novel locus for an inherited cardiomyopathy maps to chromosome 7. Circulation. 2006 May 09; 113(18):2186-92.
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  295. Biosynthesis and secretion of proatrial natriuretic factor by cultured rat cardiocytes. Science. 1985 Dec 06; 230(4730):1168-71.
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  296. Cardiac myosin-binding protein-C phosphorylation and cardiac function. Circ Res. 2005 Nov 25; 97(11):1156-63.
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  297. Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling. J Med Genet. 2005 Oct; 42(10):e59.
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  298. N488I mutation of the gamma2-subunit results in bidirectional changes in AMP-activated protein kinase activity. Circ Res. 2005 Aug 19; 97(4):323-8.
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  299. The PTPN11 gene is not implicated in nonsyndromic hypertrophic cardiomyopathy. . 2005 Jan 30; 132A(3):333-4.
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  300. Clinical and genetic linkage analysis of a large Venezuelan kindred with Usher syndrome. Int J Pediatr Otorhinolaryngol. 2004 Aug; 68(8):1063-8.
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  301. Reduced cross-bridge dependent stiffness of skinned myocardium from mice lacking cardiac myosin binding protein-C. Mol Cell Biochem. 2004 Aug; 263(1-2):73-80.
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  302. Reduced cross-bridge dependent stiffness of skinned myocardium from mice lacking cardiac myosin binding protein-C. Mol Cell Biochem. 2004 Aug; 263(1):73-80.
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  303. Effect of cardiac myosin binding protein-C on mechanoenergetics in mouse myocardium. Circ Res. 2004 Jun 25; 94(12):1615-22.
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  304. Role of cardiac myosin binding protein C in sustaining left ventricular systolic stiffening. Circ Res. 2004 May 14; 94(9):1249-55.
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  305. Differential cross-bridge kinetics of FHC myosin mutations R403Q and R453C in heterozygous mouse myocardium. . 2004 Jul; 287(1):H91-9.
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  306. A novel missense mutation in the paired domain of PAX9 causes non-syndromic oligodontia. Hum Genet. 2004 Feb; 114(3):242-9.
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  307. Electrophysiologic characterization and postnatal development of ventricular pre-excitation in a mouse model of cardiac hypertrophy and Wolff-Parkinson-White syndrome. J Am Coll Cardiol. 2003 Sep 03; 42(5):942-51.
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  308. Adult Hallervorden-Spatz syndrome simulating amyotrophic lateral sclerosis. Muscle Nerve. 2003 Jul; 28(1):118-22.
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  309. Tbx5 is required for forelimb bud formation and continued outgrowth. Development. 2003 Jun; 130(12):2741-51.
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  310. IL-12 is required for differentiation of pathogenic CD8+ T cell effectors that cause myocarditis. J Clin Invest. 2003 Mar; 111(5):671-80.
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  311. Rescue of cardiomyocyte dysfunction by phospholamban ablation does not prevent ventricular failure in genetic hypertrophy. J Clin Invest. 2003 Mar; 111(6):859-67.
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  312. Assessment of diastolic function with Doppler tissue imaging to predict genotype in preclinical hypertrophic cardiomyopathy. Circulation. 2002 Jun 25; 105(25):2992-7.
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  313. Accelerated cardiomyopathy in mice with overexpression of cardiac G(s)alpha and a missense mutation in the alpha-myosin heavy chain. Circulation. 2002 Feb 05; 105(5):614-20.
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  314. Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy. Nat Genet. 2002 Feb; 30(2):201-4.
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  315. A mouse model of congenital heart disease: cardiac arrhythmias and atrial septal defect caused by haploinsufficiency of the cardiac transcription factor Csx/Nkx2.5. Cold Spring Harb Symp Quant Biol. 2002; 67:317-25.
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  316. A nonsense mutation in MSX1 causes Witkop syndrome. Am J Hum Genet. 2001 Jul; 69(1):67-74.
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  317. Identification of genetic loci associated with paralysis, inflammation and weight loss in mouse experimental autoimmune encephalomyelitis. Int Immunol. 2001 Mar; 13(3):257-64.
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    Score: 0.015
  318. Loss of function and inhibitory effects of human CSX/NKX2.5 homeoprotein mutations associated with congenital heart disease. J Clin Invest. 2000 Jul; 106(2):299-308.
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  319. Single-molecule mechanics of R403Q cardiac myosin isolated from the mouse model of familial hypertrophic cardiomyopathy. Circ Res. 2000 Apr 14; 86(7):737-44.
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  320. Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. N Engl J Med. 1999 Dec 02; 341(23):1715-24.
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  321. Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. J Clin Invest. 1999 Dec; 104(11):1567-73.
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  322. Dilated cardiomyopathy in homozygous myosin-binding protein-C mutant mice. J Clin Invest. 1999 Nov; 104(9):1235-44.
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  323. Altered regulatory function of two familial hypertrophic cardiomyopathy troponin T mutants. Biochemistry. 1999 Oct 05; 38(40):13296-301.
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  324. The spectrum of mutations in TBX3: Genotype/Phenotype relationship in ulnar-mammary syndrome. Am J Hum Genet. 1999 Jun; 64(6):1550-62.
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  325. Electrophysiologic characteristics of accessory atrioventricular connections in an inherited form of Wolff-Parkinson-White syndrome. J Cardiovasc Electrophysiol. 1999 May; 10(5):629-35.
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  326. QT dispersion in alpha-myosin heavy-chain familial hypertrophic cardiomyopathy mice. Pediatr Res. 1999 May; 45(5 Pt 1):643-7.
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  327. An alpha-cardiac myosin heavy chain gene mutation impairs contraction and relaxation function of cardiac myocytes. Am J Physiol. 1999 05; 276(5):H1780-7.
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  328. Altered crossbridge kinetics in the alphaMHC403/+ mouse model of familial hypertrophic cardiomyopathy. Circ Res. 1999 Mar 05; 84(4):475-83.
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  329. Altered cardiac excitation-contraction coupling in mutant mice with familial hypertrophic cardiomyopathy. J Clin Invest. 1999 Mar; 103(5):661-6.
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  330. Regulation of chamber-specific gene expression in the developing heart by Irx4. Science. 1999 Feb 19; 283(5405):1161-4.
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  331. QTL influencing autoimmune diabetes and encephalomyelitis map to a 0.15-cM region containing Il2. Nat Genet. 1999 Feb; 21(2):158-60.
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  332. Haploinsufficiency of MSX1: a mechanism for selective tooth agenesis. Mol Cell Biol. 1998 Oct; 18(10):6044-51.
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  333. Regulation of murine fetal-placental calcium metabolism by the calcium-sensing receptor. J Clin Invest. 1998 Jun 15; 101(12):2812-20.
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    Score: 0.012
  334. Diastolic dysfunction and altered energetics in the alphaMHC403/+ mouse model of familial hypertrophic cardiomyopathy. J Clin Invest. 1998 Apr 15; 101(8):1775-83.
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  335. Familial hypertrophic cardiomyopathy mice display gender differences in electrophysiological abnormalities. J Interv Card Electrophysiol. 1998 Mar; 2(1):7-14.
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  336. A locus for inherited focal segmental glomerulosclerosis maps to chromosome 19q13. Kidney Int. 1998 Feb; 53(2):282-6.
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  337. Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome. Nat Genet. 1997 Jul; 16(3):311-5.
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  338. Effects of two familial hypertrophic cardiomyopathy-causing mutations on alpha-tropomyosin structure and function. Biochemistry. 1997 Apr 15; 36(15):4637-42.
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  339. Cao-sensing receptor (CaR)-mediated activation of K+ channels is blunted in CaR gene-deficient mouse neurons. Neuroreport. 1997 Apr 14; 8(6):1411-6.
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  340. Various types of hereditary inclusion body myopathies map to chromosome 9p1-q1. Ann Neurol. 1997 Apr; 41(4):548-51.
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  341. Amyloid-beta proteins activate Ca(2+)-permeable channels through calcium-sensing receptors. J Neurosci Res. 1997 Mar 01; 47(5):547-54.
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  342. Electrophysiological abnormalities and arrhythmias in alpha MHC mutant familial hypertrophic cardiomyopathy mice. J Clin Invest. 1997 Feb 15; 99(4):570-6.
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  343. Genetic heterogeneity evidenced by low incidence of KAL-1 gene mutations in sporadic cases of gonadotropin-releasing hormone deficiency. J Clin Endocrinol Metab. 1997 Jan; 82(1):213-7.
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  344. Deficient cation channel regulation in neurons from mice with targeted disruption of the extracellular Ca2+-sensing receptor gene. Brain Res Bull. 1997; 44(1):75-84.
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  345. Expression and functional assessment of a truncated cardiac troponin T that causes hypertrophic cardiomyopathy. Evidence for a dominant negative action. J Clin Invest. 1996 Dec 01; 98(11):2456-61.
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  346. Genetic analysis of susceptibility to experimental autoimmune encephalomyelitis in a cross between SJL/J and B10.S mice. J Immunol. 1996 Sep 01; 157(5):2186-92.
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  347. Missense mutation in the pore region of HERG causes familial long QT syndrome. Circulation. 1996 May 15; 93(10):1791-5.
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  348. Cloning and functional characterization of extracellular Ca(2+)-sensing receptors from parathyroid and kidney. Bone. 1995 Aug; 17(2 Suppl):7S-11S.
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  349. Calcium-ion-sensing cell-surface receptors. N Engl J Med. 1995 Jul 27; 333(4):234-40.
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  350. The cloning of extracellular Ca(2+)-sensing receptors from parathyroid and kidney: molecular mechanisms of extracellular Ca(2+)-sensing. J Nutr. 1995 07; 125(7 Suppl):1965S-1970S.
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  351. Functional analysis of myosin missense mutations in familial hypertrophic cardiomyopathy. Proc Natl Acad Sci U S A. 1994 Jan 18; 91(2):589-93.
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  352. Progress in familial hypertrophic cardiomyopathy: molecular genetic analyses in the original family studied by Teare. Br Heart J. 1992 Jan; 67(1):34-8.
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  353. Atrial natriuretic factor: assessment of its structure in atria and regulation of its biosynthesis with volume depletion. J Mol Cell Cardiol. 1986 Sep; 18(9):917-29.
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Connection Strength
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Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.
Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.