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The Translational Landscape of the Human Heart.
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Henrietta B. and Frederick H. Bugher Foundation Professor of Genetics
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Histone H2B monoubiquitination regulates heart development via epigenetic control of cilia motility. Proc Natl Acad Sci U S A. 2019 07 09; 116(28):14049-14054.
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Association of Race With Disease Expression and Clinical Outcomes Among Patients With Hypertrophic Cardiomyopathy.
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bioRxiv : the preprint server for biology
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medRxiv : the preprint server for health sciences
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Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. Genet Med. 2015 Nov; 17(11):880-8.
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.
Ware JS, Li J, Mazaika E, Yasso CM, DeSouza T, Cappola TP, Tsai EJ, Hilfiker-Kleiner D, Kamiya CA, Mazzarotto F, Cook SA, Halder I, Prasad SK, Pisarcik J, Hanley-Yanez K, Alharethi R, Damp J, Hsich E, Elkayam U, Sheppard R, Kealey A, Alexis J, Ramani G, Safirstein J, Boehmer J, Pauly DF, Wittstein IS, Thohan V, Zucker MJ, Liu P, Gorcsan J, McNamara DM, Seidman CE, Seidman JG, Arany Z
Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies. N Engl J Med. 2016 Jan 21; 374(3):233-41.
Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies.
Homsy J, Zaidi S, Shen Y, Ware JS, Samocha KE, Karczewski KJ, DePalma SR, McKean D, Wakimoto H, Gorham J, Jin SC, Deanfield J, Giardini A, Porter GA, Kim R, Bilguvar K, López-Giráldez F, Tikhonova I, Mane S, Romano-Adesman A, Qi H, Vardarajan B, Ma L, Daly M, Roberts AE, Russell MW, Mital S, Newburger JW, Gaynor JW, Breitbart RE, Iossifov I, Ronemus M, Sanders SJ, Kaltman JR, Seidman JG, Brueckner M, Gelb BD, Goldmuntz E, Lifton RP, Seidman CE, Chung WK
De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies. Science. 2015 Dec 04; 350(6265):1262-6.
De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies.
Refaat MM, Fahed AC, Hassanieh S, Hotait M, Arabi M, Skouri H, Seidman JG, Seidman CE, Bitar FF, Nemer G
The Muscle-Bound Heart. Card Electrophysiol Clin. 2016 Mar; 8(1):223-31.
Green EM, Wakimoto H, Anderson RL, Evanchik MJ, Gorham JM, Harrison BC, Henze M, Kawas R, Oslob JD, Rodriguez HM, Song Y, Wan W, Leinwand LA, Spudich JA, McDowell RS, Seidman JG, Seidman CE
A small-molecule inhibitor of sarcomere contractility suppresses hypertrophic cardiomyopathy in mice. Science. 2016 Feb 05; 351(6273):617-21.
A small-molecule inhibitor of sarcomere contractility suppresses hypertrophic cardiomyopathy in mice.
Fish M, Shaboodien G, Kraus S, Sliwa K, Seidman CE, Burke MA, Crotti L, Schwartz PJ, Mayosi BM
Mutation analysis of the phospholamban gene in 315 South Africans with dilated, hypertrophic, peripartum and arrhythmogenic right ventricular cardiomyopathies. Sci Rep. 2016 Feb 26; 6:22235.
Mutation analysis of the phospholamban gene in 315 South Africans with dilated, hypertrophic, peripartum and arrhythmogenic right ventricular cardiomyopathies.
CORRIGENDUM: Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. Genet Med. 2015 Apr; 17(4):319.
CORRIGENDUM: Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.
Corrigendum: Mutation analysis of the phospholamban gene in 315 South Africans with dilated, hypertrophic, peripartum and arrhythmogenic right ventricular cardiomyopathies. Sci Rep. 2016 05 18; 6:25863.
Corrigendum: Mutation analysis of the phospholamban gene in 315 South Africans with dilated, hypertrophic, peripartum and arrhythmogenic right ventricular cardiomyopathies.
Davis J, Davis LC, Correll RN, Makarewich CA, Schwanekamp JA, Moussavi-Harami F, Wang D, York AJ, Wu H, Houser SR, Seidman CE, Seidman JG, Regnier M, Metzger JM, Wu JC, Molkentin JD
A Tension-Based Model Distinguishes Hypertrophic versus Dilated Cardiomyopathy. Cell. 2016 May 19; 165(5):1147-1159.
A Tension-Based Model Distinguishes Hypertrophic versus Dilated Cardiomyopathy.
Eminaga S, Teekakirikul P, Seidman CE, Seidman JG
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.
Detection of Cell Proliferation Markers by Immunofluorescence Staining and Microscopy Imaging in Paraffin-Embedded Tissue Sections.
DeLaughter DM, Clark CR, Christodoulou DC, Seidman CE, Baldwin HS, Seidman JG, Barnett JV
Transcriptional Profiling of Cultured, Embryonic Epicardial Cells Identifies Novel Genes and Signaling Pathways Regulated by TGFßR3 In Vitro. PLoS One. 2016; 11(8):e0159710.
Transcriptional Profiling of Cultured, Embryonic Epicardial Cells Identifies Novel Genes and Signaling Pathways Regulated by TGFßR3 In Vitro.
Palmer BM, McConnell BK, Li GH, Seidman CE, Seidman JG, Irving TC, Alpert NR, Maughan DW
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.
Reduced cross-bridge dependent stiffness of skinned myocardium from mice lacking cardiac myosin binding protein-C.
Nadadur RD, Broman MT, Boukens B, Mazurek SR, Yang X, van den Boogaard M, Bekeny J, Gadek M, Ward T, Zhang M, Qiao Y, Martin JF, Seidman CE, Seidman J, Christoffels V, Efimov IR, McNally EM, Weber CR, Moskowitz IP
Pitx2 modulates a Tbx5-dependent gene regulatory network to maintain atrial rhythm. Sci Transl Med. 2016 08 31; 8(354):354ra115.
Pitx2 modulates a Tbx5-dependent gene regulatory network to maintain atrial rhythm.
The Genomic Basis of Congenital Heart Disease and Neurodevelopmental Outcomes
GENETIC ANALYSIS OF FAMILIAL HYPERTROPHIC CARDIOMYOPATHY
SPECIALIZED CENTER OF RESEARCH IN HEART FAILURE
DIGITAILS--MECHANISM AND REVERSAL STUDIES
Regulation of Cardiac Development in Health and Disease
Defining Genetic Architecture and Pathways of DCM
Using Genetics for Early Phenotyping &Prevention of Hypertrophic Cardiomyopathy
Genomic Effects on Right Ventricular Function, Clinical Features and Outcomes in CHD
MOLECULAR MECHANISMS OF CONGENITAL HEART DISEASE
GENETICS OF FAMILIAL HYPOCALCIURIC HYPERCALCEMIA
Using Genetics For Early Phenotyping & Prevention of Hypertrophic Cardiomyopathy
SSCOR in Pediatric Heart Development and Disease
DEVELOPMENT OF STABLE CARDIAC CELL LINES
SHORT-TERM TRAINING IN HEALTH PROFESSIONAL SCHOOLS
Training Grant in Cardiovascular Research
Natarajan P, Gold NB, Bick AG, McLaughlin H, Kraft P, Rehm HL, Peloso GM, Wilson JG, Correa A, Seidman JG, Seidman CE, Kathiresan S, Green RC
Aggregate penetrance of genomic variants for actionable disorders in European and African Americans. Sci Transl Med. 2016 11 09; 8(364):364ra151.
Aggregate penetrance of genomic variants for actionable disorders in European and African Americans.
Johnson DB, Balko JM, Compton ML, Chalkias S, Gorham J, Xu Y, Hicks M, Puzanov I, Alexander MR, Bloomer TL, Becker JR, Slosky DA, Phillips EJ, Pilkinton MA, Craig-Owens L, Kola N, Plautz G, Reshef DS, Deutsch JS, Deering RP, Olenchock BA, Lichtman AH, Roden DM, Seidman CE, Koralnik IJ, Seidman JG, Hoffman RD, Taube JM, Diaz LA, Anders RA, Sosman JA, Moslehi JJ
Fulminant Myocarditis with Combination Immune Checkpoint Blockade. N Engl J Med. 2016 Nov 03; 375(18):1749-1755.
Fulminant Myocarditis with Combination Immune Checkpoint Blockade.
DeLaughter DM, Bick AG, Wakimoto H, McKean D, Gorham JM, Kathiriya IS, Hinson JT, Homsy J, Gray J, Pu W, Bruneau BG, Seidman JG, Seidman CE
Single-Cell Resolution of Temporal Gene Expression during Heart Development. Dev Cell. 2016 11 21; 39(4):480-490.
Single-Cell Resolution of Temporal Gene Expression during Heart Development.
Burke MA, Chang S, Wakimoto H, Gorham JM, Conner DA, Christodoulou DC, Parfenov MG, DePalma SR, Eminaga S, Konno T, Seidman JG, Seidman CE
Molecular profiling of dilated cardiomyopathy that progresses to heart failure. JCI Insight. 2016 May 05; 1(6).
Molecular profiling of dilated cardiomyopathy that progresses to heart failure.
Schafer S, de Marvao A, Adami E, Fiedler LR, Ng B, Khin E, Rackham OJ, van Heesch S, Pua CJ, Kui M, Walsh R, Tayal U, Prasad SK, Dawes TJ, Ko NS, Sim D, Chan LL, Chin CW, Mazzarotto F, Barton PJ, Kreuchwig F, de Kleijn DP, Totman T, Biffi C, Tee N, Rueckert D, Schneider V, Faber A, Regitz-Zagrosek V, Seidman JG, Seidman CE, Linke WA, Kovalik JP, O'Regan D, Ware JS, Hubner N, Cook SA
Titin-truncating variants affect heart function in disease cohorts and the general population. Nat Genet. 2017 01; 49(1):46-53.
Titin-truncating variants affect heart function in disease cohorts and the general population.
McKean DM, Homsy J, Wakimoto H, Patel N, Gorham J, DePalma SR, Ware JS, Zaidi S, Ma W, Patel N, Lifton RP, Chung WK, Kim R, Shen Y, Brueckner M, Goldmuntz E, Sharp AJ, Seidman CE, Gelb BD, Seidman JG
Loss of RNA expression and allele-specific expression associated with congenital heart disease. Nat Commun. 2016 09 27; 7:12824.
Loss of RNA expression and allele-specific expression associated with congenital heart disease.
Santiago-Sim T, Fang X, Hennessy ML, Nalbach SV, DePalma SR, Lee MS, Greenway SC, McDonough B, Hergenroeder GW, Patek KJ, Colosimo SM, Qualmann KJ, Hagan JP, Milewicz DM, MacRae CA, Dymecki SM, Seidman CE, Seidman JG, Kim DH
THSD1 (Thrombospondin Type 1 Domain Containing Protein 1) Mutation in the Pathogenesis of Intracranial Aneurysm and Subarachnoid Hemorrhage. Stroke. 2016 12; 47(12):3005-3013.
THSD1 (Thrombospondin Type 1 Domain Containing Protein 1) Mutation in the Pathogenesis of Intracranial Aneurysm and Subarachnoid Hemorrhage.
Burke MA, Cook SA, Seidman JG, Seidman CE
Clinical and Mechanistic Insights Into the Genetics of Cardiomyopathy. J Am Coll Cardiol. 2016 Dec 27; 68(25):2871-2886.
Clinical and Mechanistic Insights Into the Genetics of Cardiomyopathy.
Hinson JT, Chopra A, Lowe A, Sheng CC, Gupta RM, Kuppusamy R, O'Sullivan J, Rowe G, Wakimoto H, Gorham J, Burke MA, Zhang K, Musunuru K, Gerszten RE, Wu SM, Chen CS, Seidman JG, Seidman CE
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.
Integrative Analysis of PRKAG2 Cardiomyopathy iPS and Microtissue Models Identifies AMPK as a Regulator of Metabolism, Survival, and Fibrosis.
Ding J, Lin ZQ, Jiang JM, Seidman CE, Seidman JG, Pu WT, Wang DZ
Journal of visualized experiments : JoVE
Preparation of rAAV9 to Overexpress or Knockdown Genes in Mouse Hearts. J Vis Exp. 2016 12 17; (118).
Preparation of rAAV9 to Overexpress or Knockdown Genes in Mouse Hearts.
Saddic LA, Sigurdsson MI, Chang TW, Mazaika E, Heydarpour M, Shernan SK, Seidman CE, Seidman JG, Aranki SF, Body SC, Muehlschlegel JD
The Long Noncoding RNA Landscape of the Ischemic Human Left Ventricle. Circ Cardiovasc Genet. 2017 Jan; 10(1).
The Long Noncoding RNA Landscape of the Ischemic Human Left Ventricle.
Hueneke R, Adenwala A, Mellor RL, Seidman JG, Seidman CE, Nerbonne JM
Early remodeling of repolarizing K+ currents in the aMHC403/+ mouse model of familial hypertrophic cardiomyopathy. J Mol Cell Cardiol. 2017 02; 103:93-101.
Early remodeling of repolarizing K+ currents in the aMHC403/+ mouse model of familial hypertrophic cardiomyopathy.
Encinas JA, Lees MB, Sobel RA, Symonowicz C, Greer JM, Shovlin CL, Weiner HL, Seidman CE, Seidman JG, Kuchroo VK
Journal of immunology (Baltimore, Md. : 1950)
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.
Genetic analysis of susceptibility to experimental autoimmune encephalomyelitis in a cross between SJL/J and B10.S mice.
Basson CT, Bachinsky DR, Lin RC, Levi T, Elkins JA, Soults J, Grayzel D, Kroumpouzou E, Traill TA, Leblanc-Straceski J, Renault B, Kucherlapati R, Seidman JG, Seidman CE
Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome. Nat Genet. 1997 Jan; 15(1):30-5.
Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome.
Mitrani-Rosenbaum S, Argov Z, Blumenfeld A, Seidman CE, Seidman JG
Hereditary inclusion body myopathy maps to chromosome 9p1-q1. Hum Mol Genet. 1996 Jan; 5(1):159-163.
Hereditary inclusion body myopathy maps to chromosome 9p1-q1.
Manolis EN, Yandavi N, Nadol JB, Eavey RD, McKenna M, Rosenbaum S, Khetarpal U, Halpin C, Merchant SN, Duyk GM, MacRae C, Seidman CE, Seidman JG
A gene for non-syndromic autosomal dominant progressive postlingual sensorineural hearing loss maps to chromosome 14q12-13. Hum Mol Genet. 1996 Jul; 5(7):1047-50.
A gene for non-syndromic autosomal dominant progressive postlingual sensorineural hearing loss maps to chromosome 14q12-13.
Berul CI, Christe ME, Aronovitz MJ, Seidman CE, Seidman JG, Mendelsohn ME
Electrophysiological abnormalities and arrhythmias in alpha MHC mutant familial hypertrophic cardiomyopathy mice. J Clin Invest. 1997 Feb 15; 99(4):570-6.
Electrophysiological abnormalities and arrhythmias in alpha MHC mutant familial hypertrophic cardiomyopathy mice.
Ye C, Ho-Pao CL, Kanazirska M, Quinn S, Rogers K, Seidman CE, Seidman JG, Brown EM, Vassilev PM
Amyloid-beta proteins activate Ca(2+)-permeable channels through calcium-sensing receptors. J Neurosci Res. 1997 Mar 01; 47(5):547-54.
Amyloid-beta proteins activate Ca(2+)-permeable channels through calcium-sensing receptors.
Bamshad M, Le T, Watkins WS, Dixon ME, Kramer BE, Roeder AD, Carey JC, Root S, Schinzel A, Van Maldergem L, Gardner RJ, Lin RC, Seidman CE, Seidman JG, Wallerstein R, Moran E, Sutphen R, Campbell CE, Jorde LB
The spectrum of mutations in TBX3: Genotype/Phenotype relationship in ulnar-mammary syndrome. Am J Hum Genet. 1999 Jun; 64(6):1550-62.
The spectrum of mutations in TBX3: Genotype/Phenotype relationship in ulnar-mammary syndrome.
Mukherjea P, Tong L, Seidman JG, Seidman CE, Hitchcock-DeGregori SE
Altered regulatory function of two familial hypertrophic cardiomyopathy troponin T mutants. Biochemistry. 1999 Oct 05; 38(40):13296-301.
Altered regulatory function of two familial hypertrophic cardiomyopathy troponin T mutants.
Jumlongras D, Lin JY, Chapra A, Seidman CE, Seidman JG, Maas RL, Olsen BR
A novel missense mutation in the paired domain of PAX9 causes non-syndromic oligodontia. Hum Genet. 2004 Feb; 114(3):242-9.
A novel missense mutation in the paired domain of PAX9 causes non-syndromic oligodontia.
Three inherited disorders of calcium sensing. Medicine (Baltimore). 1996 May; 75(3):115-23.
Three inherited disorders of calcium sensing.
Spirito P, Seidman CE, McKenna WJ, Maron BJ
The management of hypertrophic cardiomyopathy. N Engl J Med. 1997 Mar 13; 336(11):775-85.
The management of hypertrophic cardiomyopathy.
Lindor NM, Arsenault TM, Solomon H, Seidman CE, McEvoy MT
A new autosomal dominant disorder of pyogenic sterile arthritis, pyoderma gangrenosum, and acne: PAPA syndrome. Mayo Clin Proc. 1997 Jul; 72(7):611-5.
A new autosomal dominant disorder of pyogenic sterile arthritis, pyoderma gangrenosum, and acne: PAPA syndrome.
Ye C, Ho-Pao CL, Kanazirska M, Quinn S, Seidman CE, Seidman JG, Brown EM, Vassilev PM
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.
Deficient cation channel regulation in neurons from mice with targeted disruption of the extracellular Ca2+-sensing receptor gene.
Blanchard EM, Iizuka K, Christe M, Conner DA, Geisterfer-Lowrance A, Schoen FJ, Maughan DW, Seidman CE, Seidman JG
Targeted ablation of the murine alpha-tropomyosin gene. Circ Res. 1997 Dec; 81(6):1005-10.
Targeted ablation of the murine alpha-tropomyosin gene.
Schmitt JP, Debold EP, Ahmad F, Armstrong A, Frederico A, Conner DA, Mende U, Lohse MJ, Warshaw D, Seidman CE, Seidman JG
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.
Cardiac myosin missense mutations cause dilated cardiomyopathy in mouse models and depress molecular motor function.
Genetics of cardiovascular disease. Circulation. 2000 Nov 14; 102(20 Suppl 4):IV103-11.
Hardt SE, Geng YJ, Montagne O, Asai K, Hong C, Yang GP, Bishop SP, Kim SJ, Vatner DE, Seidman CE, Seidman JG, Homcy CJ, Vatner SF
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.
Accelerated cardiomyopathy in mice with overexpression of cardiac G(s)alpha and a missense mutation in the alpha-myosin heavy chain.
De Oliveira e Silva ER, Seidman CE, Tian JJ, Hudgins LC, Sacks FM, Breslow JL
The American journal of clinical nutrition
Effects of shrimp consumption on plasma lipoproteins. Am J Clin Nutr. 1996 Nov; 64(5):712-7.
Effects of shrimp consumption on plasma lipoproteins.
Sehayek E, Nath C, Heinemann T, McGee M, Seidman CE, Samuel P, Breslow JL
U-shape relationship between change in dietary cholesterol absorption and plasma lipoprotein responsiveness and evidence for extreme interindividual variation in dietary cholesterol absorption in humans. J Lipid Res. 1998 Dec; 39(12):2415-22.
U-shape relationship between change in dietary cholesterol absorption and plasma lipoprotein responsiveness and evidence for extreme interindividual variation in dietary cholesterol absorption in humans.
De Oliveira E Silva ER, Foster D, McGee Harper M, Seidman CE, Smith JD, Breslow JL, Brinton EA
Alcohol consumption raises HDL cholesterol levels by increasing the transport rate of apolipoproteins A-I and A-II. Circulation. 2000 Nov 07; 102(19):2347-52.
Alcohol consumption raises HDL cholesterol levels by increasing the transport rate of apolipoproteins A-I and A-II.
Kamisago M, Sharma SD, DePalma SR, Solomon S, Sharma P, McDonough B, Smoot L, Mullen MP, Woolf PK, Wigle ED, Seidman JG, Seidman CE
Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. N Engl J Med. 2000 Dec 07; 343(23):1688-96.
Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy.
Ho CY, Day SM, Colan SD, Russell MW, Towbin JA, Sherrid MV, Canter CE, Jefferies JL, Murphy AM, Cirino AL, Abraham TP, Taylor M, Mestroni L, Bluemke DA, Jarolim P, Shi L, Sleeper LA, Seidman CE, Orav EJ
The Burden of Early Phenotypes and the Influence of Wall Thickness in Hypertrophic Cardiomyopathy Mutation Carriers: Findings From the HCMNet Study. JAMA Cardiol. 2017 04 01; 2(4):419-428.
The Burden of Early Phenotypes and the Influence of Wall Thickness in Hypertrophic Cardiomyopathy Mutation Carriers: Findings From the HCMNet Study.
Gao WD, Pérez NG, Seidman CE, Seidman JG, Marbán E
Altered cardiac excitation-contraction coupling in mutant mice with familial hypertrophic cardiomyopathy. J Clin Invest. 1999 Mar; 103(5):661-6.
Altered cardiac excitation-contraction coupling in mutant mice with familial hypertrophic cardiomyopathy.
Shovlin CL, Hughes JM, Scott J, Seidman CE, Seidman JG
Characterization of endoglin and identification of novel mutations in hereditary hemorrhagic telangiectasia. Am J Hum Genet. 1997 Jul; 61(1):68-79.
Characterization of endoglin and identification of novel mutations in hereditary hemorrhagic telangiectasia.
Bruneau BG, Logan M, Davis N, Levi T, Tabin CJ, Seidman JG, Seidman CE
Chamber-specific cardiac expression of Tbx5 and heart defects in Holt-Oram syndrome. Dev Biol. 1999 Jul 01; 211(1):100-8.
Chamber-specific cardiac expression of Tbx5 and heart defects in Holt-Oram syndrome.
Manolis EN, Eavey RD, Sangwatanaroj S, Halpin C, Rosenbaum S, Watkins H, Jarcho J, Seidman CE, Seidman JG
Hereditary postlingual sensorineural hearing loss mapping to chromosome Xq21. Am J Otol. 1999 Sep; 20(5):621-6.
Hereditary postlingual sensorineural hearing loss mapping to chromosome Xq21.
McConnell BK, Jones KA, Fatkin D, Arroyo LH, Lee RT, Aristizabal O, Turnbull DH, Georgakopoulos D, Kass D, Bond M, Niimura H, Schoen FJ, Conner D, Fischman DA, Seidman CE, Seidman JG
Dilated cardiomyopathy in homozygous myosin-binding protein-C mutant mice J Clin Invest. 1999 Dec; 104(12):1771.
Dilated cardiomyopathy in homozygous myosin-binding protein-C mutant mice
Exome-wide association study reveals novel susceptibility genes to sporadic dilated cardiomyopathy. PLoS One. 2017; 12(3):e0172995.
Exome-wide association study reveals novel susceptibility genes to sporadic dilated cardiomyopathy.
Ho CY, Lever HM, DeSanctis R, Farver CF, Seidman JG, Seidman CE
Homozygous mutation in cardiac troponin T: implications for hypertrophic cardiomyopathy. Circulation. 2000 Oct 17; 102(16):1950-5.
Homozygous mutation in cardiac troponin T: implications for hypertrophic cardiomyopathy.
Maron BJ, Niimura H, Casey SA, Soper MK, Wright GB, Seidman JG, Seidman CE
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.
Development of left ventricular hypertrophy in adults in hypertrophic cardiomyopathy caused by cardiac myosin-binding protein C gene mutations.
Ahmad F, Banerjee SK, Lage ML, Huang XN, Smith SH, Saba S, Rager J, Conner DA, Janczewski AM, Tobita K, Tinney JP, Moskowitz IP, Perez-Atayde AR, Keller BB, Mathier MA, Shroff SG, Seidman CE, Seidman JG
The role of cardiac troponin T quantity and function in cardiac development and dilated cardiomyopathy. PLoS One. 2008 Jul 09; 3(7):e2642.
The role of cardiac troponin T quantity and function in cardiac development and dilated cardiomyopathy.
Manolio TA, Fowler DM, Starita LM, Haendel MA, MacArthur DG, Biesecker LG, Worthey E, Chisholm RL, Green ED, Jacob HJ, McLeod HL, Roden D, Rodriguez LL, Williams MS, Cooper GM, Cox NJ, Herman GE, Kingsmore S, Lo C, Lutz C, MacRae CA, Nussbaum RL, Ordovas JM, Ramos EM, Robinson PN, Rubinstein WS, Seidman C, Stranger BE, Wang H, Westerfield M, Bult C
Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research. Cell. 2017 03 23; 169(1):6-12.
Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research.
Hudgins LC, Parker TS, Levine DM, Gordon BR, Saal SD, Jiang XC, Seidman CE, Tremaroli JD, Lai J, Rubin AL
A single intravenous dose of endotoxin rapidly alters serum lipoproteins and lipid transfer proteins in normal volunteers. J Lipid Res. 2003 Aug; 44(8):1489-98.
A single intravenous dose of endotoxin rapidly alters serum lipoproteins and lipid transfer proteins in normal volunteers.
Tanaka M, Berul CI, Ishii M, Jay PY, Wakimoto H, Douglas P, Yamasaki N, Kawamoto T, Gehrmann J, Maguire CT, Schinke M, Seidman CE, Seidman JG, Kurachi Y, Izumo S
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.
A mouse model of congenital heart disease: cardiac arrhythmias and atrial septal defect caused by haploinsufficiency of the cardiac transcription factor Csx/Nkx2.5.
Patel VV, Arad M, Moskowitz IP, Maguire CT, Branco D, Seidman JG, Seidman CE, Berul CI
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.
Electrophysiologic characterization and postnatal development of ventricular pre-excitation in a mouse model of cardiac hypertrophy and Wolff-Parkinson-White syndrome.
Mutations in cardiac myosin heavy chain genes cause familial hypertrophic cardiomyopathy. Mol Biol Med. 1991 Apr; 8(2):159-66.
Mutations in cardiac myosin heavy chain genes cause familial hypertrophic cardiomyopathy.
Georgopoulos NA, Pralong FP, Seidman CE, Seidman JG, Crowley WF, Vallejo M
The Journal of clinical endocrinology and metabolism
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.
Genetic heterogeneity evidenced by low incidence of KAL-1 gene mutations in sporadic cases of gonadotropin-releasing hormone deficiency.
Robertson NG, Lu L, Heller S, Merchant SN, Eavey RD, McKenna M, Nadol JB, Miyamoto RT, Linthicum FH, Lubianca Neto JF, Hudspeth AJ, Seidman CE, Morton CC, Seidman JG
Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction. Nat Genet. 1998 Nov; 20(3):299-303.
Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction.
Mutations in ALPK3 underlie neonatal onset of cardiac hypertrophy
Berul CI, McConnell BK, Wakimoto H, Moskowitz IP, Maguire CT, Semsarian C, Vargas MM, Gehrmann J, Seidman CE, Seidman JG
Ventricular arrhythmia vulnerability in cardiomyopathic mice with homozygous mutant Myosin-binding protein C gene. Circulation. 2001 Nov 27; 104(22):2734-9.
Ventricular arrhythmia vulnerability in cardiomyopathic mice with homozygous mutant Myosin-binding protein C gene.
Wise CA, Gillum JD, Seidman CE, Lindor NM, Veile R, Bashiardes S, Lovett M
Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder. Hum Mol Genet. 2002 Apr 15; 11(8):961-9.
Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder.
Basson CT, MacRae CA, Schoenberg-Fejzo M, Morton CC, Spinner NB, Genin A, Krug E, Seidman JG, Seidman CE
Identification, characterization, and chromosomal localization of the human homolog (hES) of ES/130. Genomics. 1996 Aug 01; 35(3):628-31.
Identification, characterization, and chromosomal localization of the human homolog (hES) of ES/130.
Watkins H, Seidman CE, Seidman JG, Feng HS, Sweeney HL
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.
Expression and functional assessment of a truncated cardiac troponin T that causes hypertrophic cardiomyopathy. Evidence for a dominant negative action.
Coviello DA, Maron BJ, Spirito P, Watkins H, Vosberg HP, Thierfelder L, Schoen FJ, Seidman JG, Seidman CE
Clinical features of hypertrophic cardiomyopathy caused by mutation of a "hot spot" in the alpha-tropomyosin gene. J Am Coll Cardiol. 1997 Mar 01; 29(3):635-40.
Clinical features of hypertrophic cardiomyopathy caused by mutation of a "hot spot" in the alpha-tropomyosin gene.
Golitsina N, An Y, Greenfield NJ, Thierfelder L, Iizuka K, Seidman JG, Seidman CE, Lehrer SS, Hitchcock-DeGregori SE
Effects of two familial hypertrophic cardiomyopathy-causing mutations on alpha-tropomyosin structure and function. Biochemistry. 1997 Apr 15; 36(15):4637-42.
Effects of two familial hypertrophic cardiomyopathy-causing mutations on alpha-tropomyosin structure and function.
Molecular genetic studies of familial hypertrophic cardiomyopathy. Basic Res Cardiol. 1998; 93 Suppl 3:13-6.
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Genetics of hypertrophic cardiomyopathy.
Alcalai R, Wakimoto H, Arad M, Planer D, Konno T, Wang L, Seidman JG, Seidman CE, Berul CI
Prevention of ventricular arrhythmia and calcium dysregulation in a catecholaminergic polymorphic ventricular tachycardia mouse model carrying calsequestrin-2 mutation. J Cardiovasc Electrophysiol. 2011 Mar; 22(3):316-24.
Prevention of ventricular arrhythmia and calcium dysregulation in a catecholaminergic polymorphic ventricular tachycardia mouse model carrying calsequestrin-2 mutation.
Bao ZZ, Bruneau BG, Seidman JG, Seidman CE, Cepko CL
Regulation of chamber-specific gene expression in the developing heart by Irx4. Science. 1999 Feb 19; 283(5405):1161-4.
Regulation of chamber-specific gene expression in the developing heart by Irx4.
Fatkin D, MacRae C, Sasaki T, Wolff MR, Porcu M, Frenneaux M, Atherton J, Vidaillet HJ, Spudich S, De Girolami U, Seidman JG, Seidman C, Muntoni F, Müehle G, Johnson W, McDonough B
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.
Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease.
Tyska MJ, Hayes E, Giewat M, Seidman CE, Seidman JG, Warshaw DM
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.
Single-molecule mechanics of R403Q cardiac myosin isolated from the mouse model of familial hypertrophic cardiomyopathy.
Jumlongras D, Bei M, Stimson JM, Wang WF, DePalma SR, Seidman CE, Felbor U, Maas R, Seidman JG, Olsen BR
A nonsense mutation in MSX1 causes Witkop syndrome. Am J Hum Genet. 2001 Jul; 69(1):67-74.
A nonsense mutation in MSX1 causes Witkop syndrome.
Semsarian C, Ahmad I, Giewat M, Georgakopoulos D, Schmitt JP, McConnell BK, Reiken S, Mende U, Marks AR, Kass DA, Seidman CE, Seidman JG
The L-type calcium channel inhibitor diltiazem prevents cardiomyopathy in a mouse model. J Clin Invest. 2002 Apr; 109(8):1013-20.
The L-type calcium channel inhibitor diltiazem prevents cardiomyopathy in a mouse model.
Rosenzweig A, Halazonetis TD, Seidman JG, Seidman CE
Proximal regulatory domains of rat atrial natriuretic factor gene. Circulation. 1991 Sep; 84(3):1256-65.
Proximal regulatory domains of rat atrial natriuretic factor gene.
Palmer BM, Fishbaugher DE, Schmitt JP, Wang Y, Alpert NR, Seidman CE, Seidman JG, VanBuren P, Maughan DW
Differential cross-bridge kinetics of FHC myosin mutations R403Q and R453C in heterozygous mouse myocardium. Am J Physiol Heart Circ Physiol. 2004 Jul; 287(1):H91-9.
Differential cross-bridge kinetics of FHC myosin mutations R403Q and R453C in heterozygous mouse myocardium.
Encinas JA, Wicker LS, Peterson LB, Mukasa A, Teuscher C, Sobel R, Weiner HL, Seidman CE, Seidman JG, Kuchroo VK
QTL influencing autoimmune diabetes and encephalomyelitis map to a 0.15-cM region containing Il2. Nat Genet. 1999 Feb; 21(2):158-60.
QTL influencing autoimmune diabetes and encephalomyelitis map to a 0.15-cM region containing Il2.
Mehdirad AA, Fatkin D, DiMarco JP, MacRae CA, Wase A, Seidman JG, Seidman CE, Benson DW
Electrophysiologic characteristics of accessory atrioventricular connections in an inherited form of Wolff-Parkinson-White syndrome. J Cardiovasc Electrophysiol. 1999 May; 10(5):629-35.
Electrophysiologic characteristics of accessory atrioventricular connections in an inherited form of Wolff-Parkinson-White syndrome.
Lakdawala NK, Funke BH, Baxter S, Cirino AL, Roberts AE, Judge DP, Johnson N, Mendelsohn NJ, Morel C, Care M, Chung WK, Jones C, Psychogios A, Duffy E, Rehm HL, White E, Seidman JG, Seidman CE, Ho CY
Genetic testing for dilated cardiomyopathy in clinical practice. J Card Fail. 2012 Apr; 18(4):296-303.
Genetic testing for dilated cardiomyopathy in clinical practice.
Effects of two familial hypertrophic cardiomyopathy-causing mutations on alpha-tropomyosin structure and function Biochemistry. 1999 Mar 23; 38(12):3850.
Effects of two familial hypertrophic cardiomyopathy-causing mutations on alpha-tropomyosin structure and function
Eavey RD, Manolis EN, Lubianca J, Merchant S, Seidman JG, Seidman C
Mutations in COCH (formerly Coch5b2) cause DFNA9. Adv Otorhinolaryngol. 2000; 56:101-2.
Mutations in COCH (formerly Coch5b2) cause DFNA9.
Argov Z, Tiram E, Eisenberg I, Sadeh M, Seidman CE, Seidman JG, Karpati G, Mitrani-Rosenbaum S
Various types of hereditary inclusion body myopathies map to chromosome 9p1-q1. Ann Neurol. 1997 Apr; 41(4):548-51.
Various types of hereditary inclusion body myopathies map to chromosome 9p1-q1.
Vassilev PM, Ho-Pao CL, Kanazirska MP, Ye C, Hong K, Seidman CE, Seidman JG, Brown EM
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.
Cao-sensing receptor (CaR)-mediated activation of K+ channels is blunted in CaR gene-deficient mouse neurons.
Hudgins LC, Seidman CE, Diakun J, Hirsch J
Human fatty acid synthesis is reduced after the substitution of dietary starch for sugar. Am J Clin Nutr. 1998 Apr; 67(4):631-9.
Human fatty acid synthesis is reduced after the substitution of dietary starch for sugar.