Hakutulokset - Fitzgerald-Butt, Sara

Genetic Knowledge and Attitudes of Parents of Children with Congenital Heart Defects Tekijä Fitzgerald-Butt, Sara M., Klima, Jennifer, Kelleher, Kelly, Chisolm, Deena, McBride, Kim L.

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Clinical exome sequencing reports: current informatics practice and future opportunities Tekijä Swaminathan, Rajeswari, Huang, Yungui, Astbury, Caroline, Fitzgerald-Butt, Sara, Miller, Katherine, Cole, Justin, Bartlett, Christopher, Lin, Simon

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

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GATA5 Sequence Variants Identified in Individuals with Bicuspid Aortic Valve Tekijä Bonachea, Elizabeth M., Chang, Sheng-Wei, Zender, Gloria, LaHaye, Stephanie, Fitzgerald-Butt, Sara, McBride, Kim L., Garg, Vidu

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Abnormal Longitudinal Growth of the Aorta in Children with Familial Bicuspid Aortic Valve Tekijä Nadorlik, Holly, Bowman, Jessica L., Fitzgerald-Butt, Sara, Mah, May Ling, McBride, Kim L., Kovalchin, John P., Garg, Vidu

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Comparison of willingness and preference for genetic counseling via telemedicine: before vs. during the COVID-19 pandemic Tekijä Allison, Camille O., Prucka, Sandra K., Fitzgerald-Butt, Sara M., Helm, Benjamin M., Lah, Melissa, Wetherill, Leah, Baud, Rebecca E.

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Lifetime Prevalence of Sexual Intercourse and Contraception Use at Last Sex Among Adolescents and Young Adults With Congenital Heart Disease Tekijä Fry, Kevin M., Gerhardt, Cynthia A., Ash, Jerry, Zaidi, Ali N., Garg, Vidu, McBride, Kim L., Fitzgerald-Butt, Sara M.

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NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling Tekijä McBride, Kim L., Riley, Maurisa F., Zender, Gloria A., Fitzgerald-Butt, Sara M., Towbin, Jeffrey A., Belmont, John W., Cole, Susan E.

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Measuring Genetic Knowledge: A Brief Survey Instrument for Adolescents and Adults Tekijä Fitzgerald-Butt, Sara M., Bodine, Andrew, Fry, Kevin M., Ash, Jerry, Zaidi, Ali N., Garg, Vidu, Gerhardt, Cynthia A., McBride, Kim L.

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

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Novel frameshift variant in MYL2 reveals molecular differences between dominant and recessive forms of hypertrophic cardiomyopathy Tekijä Manivannan, Sathiya N., Darouich, Sihem, Masmoudi, Aida, Gordon, David, Zender, Gloria, Han, Zhe, Fitzgerald-Butt, Sara, White, Peter, McBride, Kim L., Kharrat, Maher, Garg, Vidu

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Association of Common Variants in ERBB4 with Congenital Left Ventricular Outflow Tract Obstruction Defects Tekijä McBride, Kim L., Zender, Gloria A., Fitzgerald–Butt, Sara M., Seagraves, Nikki J., Fernbach, Susan D., Zapata, Gladys, Lewin, Mark, Towbin, Jeffrey A., Belmont, John W.

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Novel Familial Dilated Cardiomyopathy Mutation in MYL2 Affects the Structure and Function of Myosin Regulatory Light Chain Tekijä Huang, Wenrui, Liang, Jingsheng, Yuan, Chen-Ching, Kazmierczak, Katarzyna, Zhou, Zhiqun, Morales, Ana, McBride, Kim L., Fitzgerald-Butt, Sara M., Hershberger, Ray E., Szczesna-Cordary, Danuta

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

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

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Exome sequencing in multiplex families with left-sided cardiac defects has high yield for disease gene discovery Tekijä Gordon, David M., Cunningham, David, Zender, Gloria, Lawrence, Patrick J., Penaloza, Jacqueline S., Lin, Hui, Fitzgerald-Butt, Sara M., Myers, Katherine, Duong, Tiffany, Corsmeier, Donald J., Gaither, Jeffrey B., Kuck, Harkness C., Wijeratne, Saranga, Moreland, Blythe, Kelly, Benjamin J., Garg, Vidu, White, Peter, McBride, Kim L.

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Assessment of Large Copy Number Variants in Patients with Apparently Isolated Congenital Left-sided Cardiac Lesions Reveals Clinically Relevant Genomic Events Tekijä Hanchard, Neil A., Umana, Luis A, D’Alessandro, Lisa, Azamian, Mahshid, Poopola, Mojisola, Morris, Shaine A., Fernbach, Susan, Lalani, Seema R., Towbin, Jeffrey A., Zender, Gloria A., Fitzgerald-Butt, Sara, Garg, Vidu, Bowman, Jessica, Zapata, Gladys, Hernandez, Patricia, Arrington, Cammon B., Furthner, Dieter, Prakash, Siddharth K., Bowles, Neil E., McBride, Kim L., Belmont, John W.

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A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20 Tekijä Hanchard, Neil A., Swaminathan, Shanker, Bucasas, Kristine, Furthner, Dieter, Fernbach, Susan, Azamian, Mahshid S., Wang, Xueqing, Lewin, Mark, Towbin, Jeffrey A., D'Alessandro, Lisa C.A., Morris, Shaine A., Dreyer, William, Denfield, Susan, Ayres, Nancy A., Franklin, Wayne J., Justino, Henri, Lantin-Hermoso, M. Regina, Ocampo, Elena C., Santos, Alexia B., Parekh, Dhaval, Moodie, Douglas, Jeewa, Aamir, Lawrence, Emily, Allen, Hugh D., Penny, Daniel J., Fraser, Charles D., Lupski, James R., Popoola, Mojisola, Wadhwa, Lalita, Brook, J. David, Bu'Lock, Frances A., Bhattacharya, Shoumo, Lalani, Seema R., Zender, Gloria A., Fitzgerald-Butt, Sara M., Bowman, Jessica, Corsmeier, Don, White, Peter, Lecerf, Kelsey, Zapata, Gladys, Hernandez, Patricia, Goodship, Judith A., Garg, Vidu, Keavney, Bernard D., Leal, Suzanne M., Cordell, Heather J., Belmont, John W., McBride, Kim L.

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An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge Tekijä Brownstein, Catherine A, Beggs, Alan H, Homer, Nils, Merriman, Barry, Yu, Timothy W, Flannery, Katherine C, DeChene, Elizabeth T, Towne, Meghan C, Savage, Sarah K, Price, Emily N, Holm, Ingrid A, Luquette, Lovelace J, Lyon, Elaine, Majzoub, Joseph, Neupert, Peter, McCallie Jr, David, Szolovits, Peter, Willard, Huntington F, Mendelsohn, Nancy J, Temme, Renee, Finkel, Richard S, Yum, Sabrina W, Medne, Livija, Sunyaev, Shamil R, Adzhubey, Ivan, Cassa, Christopher A, de Bakker, Paul IW, Duzkale, Hatice, Dworzyński, Piotr, Fairbrother, William, Francioli, Laurent, Funke, Birgit H, Giovanni, Monica A, Handsaker, Robert E, Lage, Kasper, Lebo, Matthew S, Lek, Monkol, Leshchiner, Ignaty, MacArthur, Daniel G, McLaughlin, Heather M, Murray, Michael F, Pers, Tune H, Polak, Paz P, Raychaudhuri, Soumya, Rehm, Heidi L, Soemedi, Rachel, Stitziel, Nathan O, Vestecka, Sara, Supper, Jochen, Gugenmus, Claudia, Klocke, Bernward, Hahn, Alexander, Schubach, Max, Menzel, Mortiz, Biskup, Saskia, Freisinger, Peter, Deng, Mario, Braun, Martin, Perner, Sven, Smith, Richard JH, Andorf, Janeen L, Huang, Jian, Ryckman, Kelli, Sheffield, Val C, Stone, Edwin M, Bair, Thomas, Black-Ziegelbein, E Ann, Braun, Terry A, Darbro, Benjamin, DeLuca, Adam P, Kolbe, Diana L, Scheetz, Todd E, Shearer, Aiden E, Sompallae, Rama, Wang, Kai, Bassuk, Alexander G, Edens, Erik, Mathews, Katherine, Moore, Steven A, Shchelochkov, Oleg A, Trapane, Pamela, Bossler, Aaron, Campbell, Colleen A, Heusel, Jonathan W, Kwitek, Anne, Maga, Tara, Panzer, Karin, Wassink, Thomas, Van Daele, Douglas, Azaiez, Hela, Booth, Kevin, Meyer, Nic, Segal, Michael M, Williams, Marc S, Tromp, Gerard, White, Peter, Corsmeier, Donald, Fitzgerald-Butt, Sara, Herman, Gail, Lamb-Thrush, Devon, McBride, Kim L, Newsom, David, Pierson, Christopher R, Rakowsky, Alexander T, Maver, Aleš, Lovrečić, Luca, Palandačić, Anja, Peterlin, Borut, Torkamani, Ali, Wedell, Anna, Huss, Mikael, Alexeyenko, Andrey, Lindvall, Jessica M, Magnusson, Måns, Nilsson, Daniel, Stranneheim, Henrik, Taylan, Fulya, Gilissen, Christian, Hoischen, Alexander, van Bon, Bregje, Yntema, Helger, Nelen, Marcel, Zhang, Weidong, Sager, Jason, Zhang, Lu, Blair, Kathryn, Kural, Deniz, Cariaso, Michael, Lennon, Greg G, Javed, Asif, Agrawal, Saloni, Ng, Pauline C, Sandhu, Komal S, Krishna, Shuba, Veeramachaneni, Vamsi, Isakov, Ofer, Halperin, Eran, Friedman, Eitan, Shomron, Noam, Glusman, Gustavo, Roach, Jared C, Caballero, Juan, Cox, Hannah C, Mauldin, Denise, Ament, Seth A, Rowen, Lee, Richards, Daniel R, Lucas, F Anthony San, Gonzalez-Garay, Manuel L, Caskey, C Thomas, Bai, Yu, Huang, Ying, Fang, Fang, Zhang, Yan, Wang, Zhengyuan, Barrera, Jorge, Garcia-Lobo, Juan M, González-Lamuño, Domingo, Llorca, Javier, Rodriguez, Maria C, Varela, Ignacio, Reese, Martin G, De La Vega, Francisco M, Kiruluta, Edward, Cargill, Michele, Hart, Reece K, Sorenson, Jon M, Lyon, Gholson J, Stevenson, David A, Bray, Bruce E, Moore, Barry M, Eilbeck, Karen, Yandell, Mark, Zhao, Hongyu, Hou, Lin, Chen, Xiaowei, Yan, Xiting, Chen, Mengjie, Li, Cong, Yang, Can, Gunel, Murat, Li, Peining, Kong, Yong, Alexander, Austin C, Albertyn, Zayed I, Boycott, Kym M, Bulman, Dennis E, Gordon, Paul MK, Innes, A Micheil, Knoppers, Bartha M, Majewski, Jacek, Marshall, Christian R, Parboosingh, Jillian S, Sawyer, Sarah L, Samuels, Mark E, Schwartzentruber, Jeremy, Kohane, Isaac S, Margulies, David M

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