Living with hypertrophic cardiomyopathy: a patient’s perspective
Borsari, Wendy, Davis, Lindsay, Meiers, Eric, Salberg, Lisa, Barbara McDonough
Published in Future cardiology (01.01.2022)
Published in Future cardiology (01.01.2022)
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Shared Genetic Causes of Cardiac Hypertrophy in Children and Adults
Morita, Hiroyuki, Rehm, Heidi L, Menesses, Andres, McDonough, Barbara, Roberts, Amy E, Kucherlapati, Raju, Towbin, Jeffrey A, Seidman, J.G, Seidman, Christine E
Published in The New England journal of medicine (01.05.2008)
Published in The New England journal of medicine (01.05.2008)
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UBQLN2 mutation causing heterogeneous X-linked dominant neurodegeneration
Fahed, Akl C., McDonough, Barbara, Gouvion, Cynthia M., Newell, Kathy L., Dure, Leon S., Bebin, Martina, Bick, Alexander G., Seidman, Jonathan G., Harter, Donald H., Seidman, Christine E.
Published in Annals of neurology (01.05.2014)
Published in Annals of neurology (01.05.2014)
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Missense Mutations in the Rod Domain of the Lamin A/C Gene as Causes of Dilated Cardiomyopathy and Conduction-System Disease
Fatkin, Diane, MacRae, Calum, Sasaki, Takeshi, Wolff, Matthew R, Porcu, Maurizio, Frenneaux, Michael, Atherton, John, Vidaillet, Humberto J, Spudich, Serena, De Girolami, Umberto, Seidman, Christine E, Seidman, J.G, Muntoni, Francesco, Müehle, Gerry, Johnson, Wendy, McDonough, Barbara
Published in The New England journal of medicine (02.12.1999)
Published in The New England journal of medicine (02.12.1999)
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Mutations in Sarcomere Protein Genes as a Cause of Dilated Cardiomyopathy
Kamisago, Mitsuhiro, Sharma, Pankaj, Sharma, Sapna D, DePalma, Steven R, Solomon, Scott, McDonough, Barbara, Smoot, Leslie, Mullen, Mary P, Woolf, Paul K, Wigle, E. Douglas, Seidman, Christine E, Seidman, J.G, Jarcho, John, Shapiro, Lawrence R
Published in The New England journal of medicine (07.12.2000)
Published in The New England journal of medicine (07.12.2000)
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Journal Article
Subtle Abnormalities in Contractile Function Are an Early Manifestation of Sarcomere Mutations in Dilated Cardiomyopathy
Lakdawala, Neal K, Thune, Jens J, Colan, Steven D, Cirino, Allison L, Farrohi, Faranak, Rivero, Jose, McDonough, Barbara, Sparks, Elizabeth, Orav, E J, Seidman, J G, Seidman, Christine E, Ho, Carolyn Y
Published in Circulation. Cardiovascular genetics (01.10.2012)
Published in Circulation. Cardiovascular genetics (01.10.2012)
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Cardiocutaneous Features of Autosomal Dominant Desmoplakin-Associated Arrhythmogenic Cardiomyopathy
Hylind, Robyn, Beauséjour-Ladouceur, Virginie, Plovanich, Molly Elizabeth, Helms, Adam, Smith, Eric, Joyce, Emer, Granter, Scott, Stevenson, Lynne Warner, Cirino, Allison L, McDonough, Barbara A, Mostaghimi, Arash, Abrams, Dominic J, Lakdawala, Neal K
Published in Circulation. Genomic and precision medicine (01.12.2020)
Published in Circulation. Genomic and precision medicine (01.12.2020)
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Cardiac Myosin Binding Protein-C Autoantibodies Are Potential Early Indicators of Cardiac Dysfunction and Patient Outcome in Acute Coronary Syndrome
Lynch, Thomas L., PhD, Kuster, Diederik W.D., PhD, Gonzalez, Beverly, ScM, Balasubramanian, Neelam, BA, Nair, Nandini, MD, PhD, Day, Sharlene, PhD, Calvino, Jenna E., BA, Tan, Yanli, RN, Liebetrau, Christoph, MD, Troidl, Christian, PhD, Hamm, Christian W., MD, Güçlü, Ahmet, MD, McDonough, Barbara, RN, Marian, Ali J., MD, van der Velden, Jolanda, PhD, Seidman, Christine E., MD, Huggins, Gordon S., MD, Sadayappan, Sakthivel, PhD
Published in JACC. Basic to translational science (01.04.2017)
Published in JACC. Basic to translational science (01.04.2017)
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5′RNA-Seq identifies Fhl1 as a genetic modifier in cardiomyopathy
Christodoulou, Danos C., Wakimoto, Hiroko, Onoue, Kenji, Eminaga, Seda, Gorham, Joshua M., DePalma, Steve R., Herman, Daniel S., Teekakirikul, Polakit, Conner, David A., McKean, David M., Domenighetti, Andrea A., Aboukhalil, Anton, Chang, Stephen, Srivastava, Gyan, McDonough, Barbara, De Jager, Philip L., Chen, Ju, Bulyk, Martha L., Muehlschlegel, Jochen D., Seidman, Christine E., Seidman, J.G.
Published in The Journal of clinical investigation (03.03.2014)
Published in The Journal of clinical investigation (03.03.2014)
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Journal Article
Cells of the adult human heart
Litviňuková, Monika, Talavera-López, Carlos, Maatz, Henrike, Reichart, Daniel, Worth, Catherine L., Lindberg, Eric L., Kanda, Masatoshi, Polanski, Krzysztof, Heinig, Matthias, Lee, Michael, Nadelmann, Emily R., Roberts, Kenny, Tuck, Liz, Fasouli, Eirini S., DeLaughter, Daniel M., McDonough, Barbara, Wakimoto, Hiroko, Gorham, Joshua M., Samari, Sara, Mahbubani, Krishnaa T., Saeb-Parsy, Kourosh, Patone, Giannino, Boyle, Joseph J., Zhang, Hongbo, Zhang, Hao, Viveiros, Anissa, Oudit, Gavin Y., Bayraktar, Omer Ali, Seidman, J. G., Seidman, Christine E., Noseda, Michela, Hubner, Norbert, Teichmann, Sarah A.
Published in Nature (London) (17.12.2020)
Published in Nature (London) (17.12.2020)
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Genetic therapies for cardiomyopathy: survey of attitudes of the patient community for the CureHeart project
Ormondroyd, Elizabeth, Grace, Christopher, Borsari, Wendy, Goel, Anuj, McDonough, Barbara, Rose, Joel, Seidman, Christine, Watkins, Hugh
Published in European journal of human genetics : EJHG (01.09.2024)
Published in European journal of human genetics : EJHG (01.09.2024)
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Journal Article
Abstract Mo090: Altered Cardiac Cell Populations in Hypoplastic Left Heart Syndrome
Morton, Sarah, Brown, Kemar, Wei, Eric, Gorham, Joshua, MCDONOUGH, BARBARA, Beyer, Martin, Neyazi, Meraj, Layton, Olivia, Seidman, Jonathan, Seidman, Christine
Published in Circulation research (02.08.2024)
Published in Circulation research (02.08.2024)
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Hypertrophic cardiomyopathy mutations in MYBPC3 dysregulate myosin
Toepfer, Christopher N, Wakimoto, Hiroko, Garfinkel, Amanda C, McDonough, Barbara, Liao, Dan, Jiang, Jianming, Tai, Angela C, Gorham, Joshua M, Lunde, Ida G, Lun, Mingyue, Lynch, 4th, Thomas L, McNamara, James W, Sadayappan, Sakthivel, Redwood, Charles S, Watkins, Hugh C, Seidman, Jonathan G, Seidman, Christine E
Published in Science translational medicine (23.01.2019)
Published in Science translational medicine (23.01.2019)
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Loss of function mutation in LOX causes thoracic aortic aneurysm and dissection in humans
Lee, Vivian S., Halabi, Carmen M., Hoffman, Erin P., Carmichael, Nikkola, Leshchiner, Ignaty, Lian, Christine G., Bierhals, Andrew J., Vuzman, Dana, Medicine, Brigham Genomic, Mecham, Robert P., Frank, Natasha Y., Stitziel, Nathan O.
Published in Proceedings of the National Academy of Sciences - PNAS (02.08.2016)
Published in Proceedings of the National Academy of Sciences - PNAS (02.08.2016)
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Identification of pathogenic gene mutations in LMNA and MYBPC3 that alter RNA splicing
Ito, Kaoru, Patel, Parth N., Gorham, Joshua M., McDonough, Barbara, DePalma, Steven R., Adler, Emily E., Lam, Lien, MacRae, Calum A., Mohiuddin, Syed M., Fatkin, Diane, Seidman, Christine E., Seidman, J. G.
Published in Proceedings of the National Academy of Sciences - PNAS (18.07.2017)
Published in Proceedings of the National Academy of Sciences - PNAS (18.07.2017)
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Discordant clinical features of identical hypertrophic cardiomyopathy twins
Repetti, Giuliana G., Kim, Yuri, Pereira, Alexandre C., Ingles, Jodie, Russell, Mark W., Lakdawala, Neal K., Ho, Carolyn Y., Day, Sharlene, Semsarian, Christopher, McDonough, Barbara, DePalma, Steven R., Quiat, Daniel, Green, Eric M., Seidman, Christine E., Seidman, J. G.
Published in Proceedings of the National Academy of Sciences - PNAS (09.03.2021)
Published in Proceedings of the National Academy of Sciences - PNAS (09.03.2021)
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Increased endothelial sclerostin caused by elevated DSCAM mediates multiple trisomy 21 phenotypes
McKean, David M, Zhang, Qi, Narayan, Priyanka, Morton, Sarah U, Strohmenger, Viktoria, Tang, Vi T, McAllister, Sophie, Sharma, Ananya, Quiat, Daniel, Reichart, Daniel, DeLaughter, Daniel M, Wakimoto, Hiroko, Gorham, Joshua M, Brown, Kemar, McDonough, Barbara, Willcox, Jon A, Jang, Min Young, DePalma, Steven R, Ward, Tarsha, Kim, Richard, Cleveland, John D, Seidman, J G, Seidman, Christine E
Published in The Journal of clinical investigation (01.06.2024)
Published in The Journal of clinical investigation (01.06.2024)
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A Comparison of Whole Genome Sequencing to Multigene Panel Testing in Hypertrophic Cardiomyopathy Patients
Cirino, Allison L, Lakdawala, Neal K, McDonough, Barbara, Conner, Lauren, Adler, Dale, Weinfeld, Mark, O'Gara, Patrick, Rehm, Heidi L, Machini, Kalotina, Lebo, Matthew, Blout, Carrie, Green, Robert C, MacRae, Calum A, Seidman, Christine E, Ho, Carolyn Y
Published in Circulation. Cardiovascular genetics (01.10.2017)
Published in Circulation. Cardiovascular genetics (01.10.2017)
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Abstract 202: The R21C Mutation in Troponin I Has a Founder Effect in South Lebanon and Causes Malignant Hypertrophic Cardiomyopathy
Fahed, Akl, Nemer, Georges, Bitar, Fadi, Arnaout, Samir, Abche, Antoine, Ware, James, Batrawi, Manal, Khalil, Athar, DePalma, Steven, McDonough, Barbara, Arabi, Mariam, Seidman, Jonathan, Seidman, Christine
Published in Circulation research (02.08.2019)
Published in Circulation research (02.08.2019)
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