Search Results - Barbara McDonough

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  1. 1
    Reduced Penetrance, Variable Expressivity, and Genetic Heterogeneity of Familial Atrial Septal Defects

    Reduced Penetrance, Variable Expressivity, and Genetic Heterogeneity of Familial Atrial Septal Defects by D. Woodrow Benson, Angela Sharkey, Diane Fatkin, Peter Lang, Craig T. Basson, Barbara McDonough, Arnold W. Strauss, J.G. Seidman, Christine E. Seidman

    Published 1998
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  2. 2
    Shared Genetic Causes of Cardiac Hypertrophy in Children and Adults

    Shared Genetic Causes of Cardiac Hypertrophy in Children and Adults by Hiroyuki Morita, Heidi L. Rehm, Andres Menesses, Barbara McDonough, Amy E. Roberts, Raju Kucherlapati, Jeffrey A. Towbin, Jonathan G. Seidman, Christine E. Seidman

    Published 2008
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  3. 3
    <i>UBQLN2</i> mutation causing heterogeneous X‐linked dominant neurodegeneration

    <i>UBQLN2</i> mutation causing heterogeneous X‐linked dominant neurodegeneration by Akl C. Fahed, Barbara McDonough, Cynthia M. Gouvion, Kathy L. Newell, Leon Dure, Martina Bebin, Alexander G. Bick, Jonathan G. Seidman, Donald H. Harter, Christine E. Seidman

    Published 2014
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  4. 4
    Subtle Abnormalities in Contractile Function Are an Early Manifestation of Sarcomere Mutations in Dilated Cardiomyopathy

    Subtle Abnormalities in Contractile Function Are an Early Manifestation of Sarcomere Mutations in Dilated Cardiomyopathy by Neal K. Lakdawala, Jens Jakob Thune, Steven D. Colan, Allison L. Cirino, Faranak Farrohi, Jose Rivero, Barbara McDonough, Elizabeth Sparks, E. John Orav, Jonathan G. Seidman, Christine E. Seidman, Carolyn Y. Ho

    Published 2012
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  5. 5
    Identification of pathogenic gene mutations in <i>LMNA</i> and <i>MYBPC3</i> that alter RNA splicing

    Identification of pathogenic gene mutations in <i>LMNA</i> and <i>MYBPC3</i> that alter RNA splicing by Kaoru Ito, Parth Patel, Joshua M. Gorham, Barbara McDonough, Steven R. DePalma, Emily E. Adler, Lien Lam, Calum A. MacRae, Syed M. Mohiuddin, Diane Fatkin, Christine E. Seidman, J G Seidman

    Published 2017
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  6. 6
    <scp><i>HOXA</i></scp><i>2</i>Haploinsufficiency in Dominant Bilateral Microtia and Hearing Loss

    <scp><i>HOXA</i></scp><i>2</i>Haploinsufficiency in Dominant Bilateral Microtia and Hearing Loss by Kerry K. Brown, Lucas Moura Viana, Cecilia C. Helwig, Maria A. Artunduaga, Lourdes Quintanilla‐Dieck, Patricia Jarrin, Gabriel Osorno, Barbara McDonough, Steven R. DePalma, Roland D. Eavey, Jonathan G. Seidman, Christine E. Seidman

    Published 2013
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  7. 7
    Missense Mutations in the Rod Domain of the Lamin A/C Gene as Causes of Dilated Cardiomyopathy and Conduction-System Disease

    Missense Mutations in the Rod Domain of the Lamin A/C Gene as Causes of Dilated Cardiomyopathy and Conduction-System Disease by Diane Fatkin, Calum A. MacRae, Takeshi Sasaki, Matthew R. Wolff, Maurizio Porcu, Michael Frenneaux, J. Atherton, Humberto Vidaillet, Serena Spudich, Umberto De Girolami, Jonathan G. Seidman, Francesco Muntoni, Gerry Müehle, Wendy Johnson, Barbara McDonough, Christine E. Seidman

    Published 1999
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  8. 8
    Mutations in Sarcomere Protein Genes as a Cause of Dilated Cardiomyopathy

    Mutations in Sarcomere Protein Genes as a Cause of Dilated Cardiomyopathy by Mitsuhiro Kamisago, Sapna Sharma, Steven R. DePalma, Scott D. Solomon, Pankaj Sharma, Barbara McDonough, Leslie Smoot, Mary P. Mullen, Paul K. Woolf, E. Douglas Wigle, J G Seidman, John A. Jarcho, Lawrence R. Shapiro, Christine E. Seidman

    Published 2000
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  9. 9
    A Comparison of Whole Genome Sequencing to Multigene Panel Testing in Hypertrophic Cardiomyopathy Patients

    A Comparison of Whole Genome Sequencing to Multigene Panel Testing in Hypertrophic Cardiomyopathy Patients by Allison L. Cirino, Neal K. Lakdawala, Barbara McDonough, Lauren Conner, Dale Adler, Mark S. Weinfeld, Patrick T. O’Gara, Heidi L. Rehm, Kalotina Machini, Matthew S. Lebo, Carrie L. Blout Zawatsky, Robert C. Green, Calum A. MacRae, Christine E. Seidman, Carolyn Y. Ho

    Published 2017
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  10. 10
    Discordant clinical features of identical hypertrophic cardiomyopathy twins

    Discordant clinical features of identical hypertrophic cardiomyopathy twins by Giuliana G. Repetti, Yuri Kim, Alexandre C. Pereira, Jodie Ingles, Mark W. Russell, Neal K. Lakdawala, Carolyn Y. Ho, Sharlene M. Day, Christopher Semsarian, Barbara McDonough, Steven R. DePalma, Daniel Quiat, Eric M. Green, Christine E. Seidman, Jonathan G. Seidman

    Published 2021
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  11. 11
    Short Communication: The Cardiac Myosin Binding Protein C Arg502Trp Mutation

    Short Communication: The Cardiac Myosin Binding Protein C Arg502Trp Mutation by Adam J. Saltzman, Debora Mancini‐DiNardo, Chumei Li, Wendy K. Chung, Carolyn Y. Ho, Stephanie Hurst, Julia Wynn, Melanie Care, Robert M. Hamilton, Gregor W. Seidman, Joshua M. Gorham, Barbara McDonough, Elizabeth Sparks, Jonathan G. Seidman, Christine E. Seidman, Heidi L. Rehm

    Published 2010
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  12. 12
    Hypertrophic cardiomyopathy mutations in <i>MYBPC3</i> dysregulate myosin

    Hypertrophic cardiomyopathy mutations in <i>MYBPC3</i> dysregulate myosin by Christopher N. Toepfer, Hiroko Wakimoto, Amanda C. Garfinkel, Barbara McDonough, Dan Liao, Jianming Jiang, Angela C. Tai, Joshua M. Gorham, Ida G. Lunde, Mingyue Lun, Thomas L. Lynch, James W. McNamara, Sakthivel Sadayappan, Charles Redwood, Hugh Watkins, Jonathan G. Seidman, Christine E. Seidman

    Published 2019
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  13. 13
    Missense Mutations in the<i>BCS1L</i>Gene as a Cause of the Björnstad Syndrome

    Missense Mutations in the<i>BCS1L</i>Gene as a Cause of the Björnstad Syndrome by J. Travis Hinson, Valeria R. Fantin, Jost Schönberger, Noralv Breivik, Geir Siem, Barbara McDonough, Pankaj Sharma, Ivan Keogh, Ricardo Godinho, Felipe Santos, Alfonso Esparza, Yamileth Nicolau, Edgar Selvaag, Bruce H. Cohen, Charles L. Hoppel, Lisbeth Tranebjærg, Roland D. Eavey, J.G. Seidman, Christine E. Seidman

    Published 2007
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  14. 14
    5′RNA-Seq identifies Fhl1 as a genetic modifier in cardiomyopathy

    5′RNA-Seq identifies Fhl1 as a genetic modifier in cardiomyopathy by Danos C. Christodoulou, Hiroko Wakimoto, Kenji Onoue, Seda Eminaga, Joshua M. Gorham, Steven R. DePalma, Daniel S. Herman, Polakit Teekakirikul, David A. Conner, David McKean, Andrea A. Domenighetti, Anton Aboukhalil, Stephen Chang, Gyan Srivastava, Barbara McDonough, Philip L. De Jager, Ju Chen, Martha L. Bulyk, Jochen D. Muehlschlegel, Christine E. Seidman, J G Seidman

    Published 2014
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  15. 15
    <i>THSD1</i> (Thrombospondin Type 1 Domain Containing Protein 1) Mutation in the Pathogenesis of Intracranial Aneurysm and Subarachnoid Hemorrhage

    <i>THSD1</i> (Thrombospondin Type 1 Domain Containing Protein 1) Mutation in the Pathogenesis of Intracranial Aneurysm and Subarachnoid Hemorrhage by Teresa Santiago‐Sim, Xiaoqian Fang, Morgan L. Hennessy, Stephen V. Nalbach, Steven R. DePalma, Ming Sum Lee, Steven C. Greenway, Barbara McDonough, Georgene W. Hergenroeder, Kyla Patek, Sarah M. Colosimo, Krista J. Qualmann, John P. Hagan, Dianna M. Milewicz, Calum A. MacRae, Susan M. Dymecki, Christine E. Seidman, J.G. Seidman, Dong Kim

    Published 2016
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  16. 16
    An ancient founder mutation located between<i>ROBO1</i>and<i>ROBO2</i>is responsible for increased microtia risk in Amerindigenous populations

    An ancient founder mutation located between<i>ROBO1</i>and<i>ROBO2</i>is responsible for increased microtia risk in Amerindigenous populations by Daniel Quiat, Seong Won Kim, Qi Zhang, Sarah U. Morton, Alexandre C. Pereira, Steven R. DePalma, Jon A. L. Willcox, Barbara McDonough, Daniel M. DeLaughter, Joshua M. Gorham, Justin J. Curran, Melissa Tumblin, Yamileth Nicolau, Maria A. Artunduaga, Lourdes Quintanilla‐Dieck, Gabriel Osorno, Luís Serrano, Usama S. Hamdan, Roland D. Eavey, Christine E. Seidman, Jonathan G. Seidman

    Published 2022
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  17. 17
    Truncations of Titin Causing Dilated Cardiomyopathy

    Truncations of Titin Causing Dilated Cardiomyopathy by 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 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

    Published 2012
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  18. 18
    Cells of the adult human heart

    Cells of the adult human heart by Monika Litviňuková, Carlos Talavera‐López, Henrike Maatz, Daniel Reichart, Catherine L. Worth, Eric L. Lindberg, Masatoshi Kanda, Krzysztof Polański, Matthias Heinig, Michael Lee, Emily R. Nadelmann, Kenny Roberts, Elizabeth Tuck, Eirini S. Fasouli, Daniel M. DeLaughter, Barbara McDonough, Hiroko Wakimoto, Joshua M. Gorham, Sara Samari, Krishnaa T. Mahbubani, Kourosh Saeb‐Parsy, Giannino Patone, Joseph J. Boyle, Hongbo Zhang, Hao Zhang, Anissa Viveiros, Gavin Y. Oudit, Omer Ali Bayraktar, Jonathan G. Seidman, Christine E. Seidman, Michela Noseda, Norbert Hübner, Sarah A. Teichmann

    Published 2020
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  19. 19
    Loss of function mutation in <i>LOX</i> causes thoracic aortic aneurysm and dissection in humans

    Loss of function mutation in <i>LOX</i> causes thoracic aortic aneurysm and dissection in humans by Vivian S. Lee, Carmen M. Halabi, EP Hoffman, Nikkola Carmichael, Ignaty Leshchiner, Christine G. Lian, Andrew J. Bierhals, Dana Vuzman, Robert P. Mecham, Natasha Y. Frank, Nathan O. Stitziel, Richard L. Maas, Shamil Sunyaev, Dana Vuzman, Joel B. Krier, Aaron W. Aday, Corneliu Bodea, Andrew Bjonnes, Nikkola Carmichael, Christopher A. Cassa, Natasha Y. Frank, Robert C. Green, Wolfram Goessling, Alireza Haghighi, Jason Homsi, Elizabeth L. Krieg, Calum A. MacRae, Barbara McDonough, Anwoy Kumar Mohanty, Melanie O’Leary, Soumya Raychaudhuri, Christine E. Seidman, Sheila Sutti, Jamie Valerius, Haiyan Qiu

    Published 2016
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  20. 20
    Pathogenic variants damage cell composition and single cell transcription in cardiomyopathies

    Pathogenic variants damage cell composition and single cell transcription in cardiomyopathies by Daniel Reichart, Eric L. Lindberg, Henrike Maatz, Antonio M. A. Miranda, Anissa Viveiros, Nikolay Shvetsov, Anna Gärtner, Emily R. Nadelmann, Michael Lee, Kazumasa Kanemaru, Jorge Ruiz‐Orera, Viktoria Strohmenger, Daniel M. DeLaughter, Giannino Patone, Hao Zhang, Andrew Woehler, Christoph Lippert, Yuri Kim, Eleonora Adami, Joshua M. Gorham, Sam N. Barnett, Kemar Brown, Rachel Buchan, Rasheda A. Chowdhury, Chrystalla Constantinou, James Cranley, Leanne E. Felkin, Henrik Fox, Ahla Ghauri, Jan Gummert, Masatoshi Kanda, Ruoyan Li, Lukáš Mach, Barbara McDonough, Sara Samari, Farnoush Shahriaran, Clarence Yapp, Caroline Stanasiuk, Pantazis Theotokis, Fabian J. Theis, Antoon van den Bogaerdt, Hiroko Wakimoto, James S. Ware, Catherine L. Worth, Paul J.R. Barton, Young‐Ae Lee, Sarah A. Teichmann, Hendrik Milting, Michela Noseda, Gavin Y. Oudit, Matthias Heinig, Jonathan G. Seidman, Norbert Hübner, Christine E. Seidman

    Published 2022
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