Jonathan G. Seidman, Ph.D.
Henrietta B. and Frederick H. Bugher Foundation Professor of Genetics, Harvard Medical School
UBQLN2 mutation causing heterogeneous X-linked dominant neurodegeneration.
Authors: Authors: Fahed AC, McDonough B, Gouvion CM, Newell KL, Dure LS, Bebin M, Bick AG, Seidman JG, Harter DH, Seidman CE.
Ann Neurol
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Ann Neurol
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A common genetic variant within SCN10A modulates cardiac SCN5A expression.
Authors: Authors: van den Boogaard M, Smemo S, Burnicka-Turek O, Arnolds DE, van de Werken HJ, Klous P, McKean D, Muehlschlegel JD, Moosmann J, Toka O, Yang XH, Koopmann TT, Adriaens ME, Bezzina CR, de Laat W, Seidman C, Seidman JG, Christoffels VM, Nobrega MA, Barnett P, Moskowitz IP.
J Clin Invest
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J Clin Invest
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5'RNA-Seq identifies Fhl1 as a genetic modifier in cardiomyopathy.
Authors: Authors: Christodoulou DC, Wakimoto H, Onoue K, Eminaga S, Gorham JM, DePalma SR, Herman DS, Teekakirikul P, Conner DA, McKean DM, Domenighetti AA, Aboukhalil A, Chang S, Srivastava G, McDonough B, De Jager PL, Chen J, Bulyk ML, Muehlschlegel JD, Seidman CE, Seidman JG.
J Clin Invest
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J Clin Invest
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Increased burden of cardiovascular disease in carriers of APOL1 genetic variants.
Authors: Authors: Ito K, Bick AG, Flannick J, Friedman DJ, Genovese G, Parfenov MG, Depalma SR, Gupta N, Gabriel SB, Taylor HA, Fox ER, Newton-Cheh C, Kathiresan S, Hirschhorn JN, Altshuler DM, Pollak MR, Wilson JG, Seidman JG, Seidman C.
Circ Res
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Circ Res
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Deep sequence analysis of gene expression identifies osteopontin as a downstream effector of integrin-linked kinase (ILK) in cardiac-specific ILK knockout mice.
Authors: Authors: Dai J, Matsui T, Abel ED, Dedhar S, Gerszten RE, Seidman CE, Seidman JG, Rosenzweig A.
Circ Heart Fail
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Circ Heart Fail
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Loss of FHL1 induces an age-dependent skeletal muscle myopathy associated with myofibrillar and intermyofibrillar disorganization in mice.
Authors: Authors: Domenighetti AA, Chu PH, Wu T, Sheikh F, Gokhin DS, Guo LT, Cui Z, Peter AK, Christodoulou DC, Parfenov MG, Gorham JM, Li DY, Banerjee I, Lai X, Witzmann FA, Seidman CE, Seidman JG, Gomes AV, Shelton GD, Lieber RL, Chen J.
Hum Mol Genet
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Hum Mol Genet
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Genetics and disease of ventricular muscle.
Authors: Authors: Fatkin D, Seidman CE, Seidman JG.
Cold Spring Harb Perspect Med
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Cold Spring Harb Perspect Med
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The role of mutant protein level in autosomal recessive catecholamine dependent polymorphic ventricular tachycardia (CPVT2).
Authors: Authors: Katz G, Shainberg A, Hochhauser E, Kurtzwald-Josefson E, Issac A, El-Ani D, Aravot D, Afek A, Seidman JG, Seidman CE, Eldar M, Arad M.
Biochem Pharmacol
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Biochem Pharmacol
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Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes.
Authors: Authors: Flannick J, Beer NL, Bick AG, Agarwala V, Molnes J, Gupta N, Burtt NP, Florez JC, Meigs JB, Taylor H, Lyssenko V, Irgens H, Fox E, Burslem F, Johansson S, Brosnan MJ, Trimmer JK, Newton-Cheh C, Tuomi T, Molven A, Wilson JG, O'Donnell CJ, Kathiresan S, Hirschhorn JN, Njølstad PR, Rolph T, Seidman JG, Gabriel S, Cox DR, Seidman CE, Groop L, Altshuler D.
Nat Genet
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Nat Genet
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Allele-specific silencing of mutant Myh6 transcripts in mice suppresses hypertrophic cardiomyopathy.