E
Elizabeth Sparks
Researcher at Ohio State University
Publications - 42
Citations - 4965
Elizabeth Sparks is an academic researcher from Ohio State University. The author has contributed to research in topics: Cardiomyopathy & Hypertrophic cardiomyopathy. The author has an hindex of 23, co-authored 42 publications receiving 4542 citations. Previous affiliations of Elizabeth Sparks include Harvard University & Johns Hopkins University.
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Journal ArticleDOI
Truncations of Titin Causing Dilated Cardiomyopathy
Daniel S. Herman,Lien Lam,Matthew R.G. Taylor,Libin Wang,Polakit Teekakirikul,Danos C. Christodoulou,Lauren Conner,Steven R. DePalma,Barbara McDonough,Elizabeth Sparks,Debbie Lin Teodorescu,Allison L. Cirino,Nicholas R. Banner,Dudley J. Pennell,Sharon L. Graw,Marco Merlo,Andrea Di Lenarda,Gianfranco Sinagra,J. Martijn Bos,Michael J. Ackerman,Richard N. Mitchell,Charles E. Murry,Neal K. Lakdawala,Carolyn Y. Ho,Paul J.R. Barton,Stuart A. Cook,Luisa Mestroni,Jonathan G. Seidman,Christine E. Seidman +28 more
TL;DR: Incorporation of sequencing approaches that detect TTN truncations into genetic testing for dilated cardiomyopathy should substantially increase test sensitivity, thereby allowing earlier diagnosis and therapeutic intervention for many patients with dilated heart disease.
Journal ArticleDOI
Mutations in smooth muscle α-actin ( ACTA2 ) lead to thoracic aortic aneurysms and dissections
Dongchuan Guo,Hariyadarshi Pannu,Van Tran-Fadulu,Christina L. Papke,Robert Yu,Nili Avidan,Scott Bourgeois,Anthony L. Estrera,Hazim J. Safi,Elizabeth Sparks,David J. Amor,Lesley C. Adès,Vivienne McConnell,Colin E. Willoughby,Dianne N. Abuelo,Marcia C. Willing,Richard A. Lewis,Dong H. Kim,Steve Scherer,Poyee P. Tung,Chul Ahn,L. Maximilian Buja,Chander Raman,Sanjay Shete,Dianna M. Milewicz +24 more
TL;DR: It is shown that missense mutations in ACTA2 are responsible for 14% of inherited ascending thoracic aortic aneurysms and dissections (TAAD), and the importance of SMC contraction in maintaining the structural integrity of the ascending aorta is indicated.
Journal ArticleDOI
Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy
Michael Arad,D. Woodrow Benson,Antonio R. Perez-Atayde,William J. McKenna,Elizabeth Sparks,Ronald J. Kanter,Kate McGarry,Jonathan G. Seidman,Christine E. Seidman +8 more
TL;DR: The data indicate that PRKAG2 mutations do not cause hypertrophic cardiomyopathy but rather lead to a novel myocardial metabolic storage disease, in which hypertrophy, ventricular pre-excitation and conduction system defects coexist.
Journal ArticleDOI
Mutations in Smooth Muscle Alpha-Actin (ACTA2) Cause Coronary Artery Disease, Stroke, and Moyamoya Disease, Along with Thoracic Aortic Disease
Dongchuan Guo,Christina L. Papke,Van Tran-Fadulu,Ellen S. Regalado,Nili Avidan,Ralph J. Johnson,Dong H. Kim,Hariyadarshi Pannu,Marcia C. Willing,Elizabeth Sparks,Reed E. Pyeritz,Michael N. Singh,Ronald L. Dalman,James C. Grotta,Ali J. Marian,Ali J. Marian,Eric Boerwinkle,Eric Boerwinkle,Lorraine Frazier,Scott A. LeMaire,Scott A. LeMaire,Joseph S. Coselli,Joseph S. Coselli,Anthony L. Estrera,Hazim J. Safi,Sudha Veeraraghavan,Donna M. Muzny,David A. Wheeler,James T. Willerson,Robert Yu,Sanjay Shete,Steven E. Scherer,Chander Raman,L. Maximilian Buja,Dianna M. Milewicz,Dianna M. Milewicz +35 more
TL;DR: The results indicate that heterozygous ACTA2 mutations predispose patients to a variety of diffuse and diverse vascular diseases, including TAAD, premature CAD, ischemic strokes, and MMD and have direct implications for clinical management and research on familial vascular diseases.
Journal ArticleDOI
Corrigendum: Mutations in smooth muscle α-actin (ACTA2) lead to thoracic aortic aneurysms and dissections (Nature Genetics (2007) 39, (1488-1493))
Dongchuan Guo,Hariyadarshi Pannu,Van Tran-Fadulu,Christina L. Papke,Robert Yu,Nili Avidan,Scott Bourgeois,Anthony L. Estrera,Hazim J. Safi,Elizabeth Sparks,David J. Amor,Lesley C. Adès,Vivienne McConnell,Colin E. Willoughby,Dianne N. Abuelo,Marcia C. Willing,Richard A. Lewis,Dong H. Kim,Stephen W. Scherer,Poyee P. Tung,Chul Ahn,L. Maximilian Buja,Chander Raman,Sanjay Shete,Dianna M. Milewicz +24 more
TL;DR: It is shown that missense mutations in ACTA2 are responsible for 14% of inherited ascending thoracic aortic aneurysms and dissections (TAAD), and the importance of SMC contraction in maintaining the structural integrity of the ascending aorta is indicated.