Resultados da pesquisa - Sara Fitzgerald‐Butt

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  1. 1
    Rare GATA5 sequence variants identified in individuals with bicuspid aortic valve

    Rare GATA5 sequence variants identified in individuals with bicuspid aortic valve Por Elizabeth Bonachea, Sheng‐Wei Chang, Gloria Zender, Stephanie LaHaye, Sara Fitzgerald‐Butt, Kim L. McBride, Vidu Garg

    Publicado em 2014
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  2. 2
    Use of a targeted, combinatorial next-generation sequencing approach for the study of bicuspid aortic valve

    Use of a targeted, combinatorial next-generation sequencing approach for the study of bicuspid aortic valve Por Elizabeth Bonachea, Gloria Zender, Peter White, Don Corsmeier, David L. Newsom, Sara Fitzgerald‐Butt, Vidu Garg, Kim L. McBride

    Publicado em 2014
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  3. 3
    NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling

    NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling Por Kim L. McBride, Maurisa F. Riley, Gloria Zender, Sara Fitzgerald‐Butt, J.A. Towbin, John W. Belmont, Sarah Cole

    Publicado em 2008
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  4. 4
    Understanding of informed consent by parents of children enrolled in a genetic biobank

    Understanding of informed consent by parents of children enrolled in a genetic biobank Por Jennifer Klima, Sara Fitzgerald‐Butt, Kelly J. Kelleher, Deena J. Chisolm, R. Dawn Comstock, Amy K. Ferketich, Kim L. McBride

    Publicado em 2013
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  5. 5
    Measuring genetic knowledge: a brief survey instrument for adolescents and adults

    Measuring genetic knowledge: a brief survey instrument for adolescents and adults Por Sara Fitzgerald‐Butt, Andrew J. Bodine, Kevin M. Fry, Jerry Ash, Ali N. Zaidi, Vidu Garg, Cynthia A. Gerhardt, Kim L. McBride

    Publicado em 2015
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  6. 6
    Utilization of Whole Exome Sequencing to Identify Causative Mutations in Familial Congenital Heart Disease

    Utilization of Whole Exome Sequencing to Identify Causative Mutations in Familial Congenital Heart Disease Por Stephanie LaHaye, Don Corsmeier, Madhumita Basu, Jessica Bowman, Sara Fitzgerald‐Butt, Gloria Zender, Kevin Bosse, Kim L. McBride, Peter White, Vidu Garg

    Publicado em 2016
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  7. 7
    Novel familial dilated cardiomyopathy mutation in <i><scp>MYL</scp>2</i> affects the structure and function of myosin regulatory light chain

    Novel familial dilated cardiomyopathy mutation in <i><scp>MYL</scp>2</i> affects the structure and function of myosin regulatory light chain Por Wenrui Huang, Jingsheng Liang, Chen‐Ching Yuan, Katarzyna Kaźmierczak, Zhiqun Zhou, Ana Morales, Kim L. McBride, Sara Fitzgerald‐Butt, Ray E. Hershberger, Danuta Szczesna‐Cordary

    Publicado em 2015
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  8. 8
    Linkage analysis of left ventricular outflow tract malformations (aortic valve stenosis, coarctation of the aorta, and hypoplastic left heart syndrome)

    Linkage analysis of left ventricular outflow tract malformations (aortic valve stenosis, coarctation of the aorta, and hypoplastic left heart syndrome) Por Kim L. McBride, Gloria Zender, Sara Fitzgerald‐Butt, Daniel Koehler, Andres Menesses-Diaz, Susan Fernbach, Kwanghyuk Lee, Jeffrey A. Towbin, Suzanne M. Leal, John W. Belmont

    Publicado em 2009
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  9. 9
    The Responsibility to Recontact Research Participants after Reinterpretation of Genetic and Genomic Research Results

    The Responsibility to Recontact Research Participants after Reinterpretation of Genetic and Genomic Research Results Por Yvonne Bombard, Kyle B. Brothers, Sara Fitzgerald‐Butt, Nanibaa’ A. Garrison, Leila Jamal, Cynthia A. James, Gail P. Jarvik, Jennifer B. McCormick, Tanya N. Nelson, Kelly E. Ormond, Heidi L. Rehm, Julie Richer, Emmanuelle Souzeau, Jason L. Vassy, Jennifer K. Wagner, Howard P. Levy

    Publicado em 2019
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  10. 10
    An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

    An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge Por Catherine A. Brownstein, Alan H. Beggs, Nils Homer, Barry Merriman, Timothy W. Yu, Katherine C Flannery, Elizabeth T. DeChene, Meghan C. Towne, Sarah Savage, Emily Price, Ingrid A. Holm, Lovelace J. Luquette, Elaine Lyon, Joseph A. Majzoub, Peter Neupert, David P. McCallie, Peter Szolovits, Huntington F. Willard, Nancy J. Mendelsohn, Renee Temme, Richard S. Finkel, Sabrina W. Yum, Līvija Medne, Shamil Sunyaev, Ivan Adzhubey, Christopher A. Cassa, Paul IW de Bakker, Hatice Duzkale, Piotr Dworzyński, William G. Fairbrother, Laurent C. Francioli, Birgit Funke, Monica A. Giovanni, Robert E. Handsaker, Kasper Lage, Matthew S. Lebo, Monkol Lek, Ignaty Leshchiner, Daniel G. MacArthur, Heather M. McLaughlin, Michael F. Murray, Tune H. Pers, Paz Polak, Soumya Raychaudhuri, Heidi L. Rehm, Rachel Soemedi, Nathan O. Stitziel, Sara Vestecka, Jochen Supper, Claudia Gugenmus, Bernward Klocke, Alexander Hahn, Max Schubach, Mortiz Menzel, Saskia Biskup, Peter Freisinger, Mario C. Deng, Martin Braun, Sven Perner, Richard J. Smith, Janeen L Andorf, Jian Huang, Kelli K. Ryckman, Val C. Sheffield, Edwin M. Stone, Thomas Bair, E. Ann Black-Ziegelbein, Terry A. Braun, Benjamin W. Darbro, Adam P. DeLuca, Diana L. Kolbe, Todd E. Scheetz, A. Eliot Shearer, Rama Sompallae, Kai Wang, Alexander G. Bassuk, Erik Edens, Katherine D. Mathews, Steven A. Moore, Oleg A. Shchelochkov, Pamela Trapane, Aaron Bossler, Colleen A. Campbell, Jonathan W. Heusel, Anne E. Kwitek, Tara Maga, Karin Panzer, Thomas H. Wassink, Douglas J. Van Daele, Héla Azaiez, Kevin T. Booth, Nic Meyer, Michael M. Segal, Marc S. Williams, Gerard Tromp, Peter White, Donald J. Corsmeier, Sara Fitzgerald‐Butt, Gail E. Herman, Devon Lamb-Thrush

    Publicado em 2014
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