BetterScholar BetterScholar
9
Role
Title
Level Year L/R
🐜 An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge
198 auth. C. Brownstein, A. Beggs, Nils Homer, Barry Merriman, Timothy W. Yu, Katherine C Flannery, E. Dechene, Meghan C Towne, Sarah K. Savage, Emily N Price, Ingrid A. Holm, Lovelace J. Luquette, Elaine Lyon, Joseph Majzoub, Peter Neupert, ... David McCallie Jr, Peter Szolovits, Huntington F. Willard, N. Mendelsohn, R. Temme, Richard S Finkel, S. Yum, L. Medne, S. Sunyaev, Ivan Adzhubey, C. Cassa, P. D. de Bakker, Hatice Duzkale, Piotr Dworzynski, William G. Fairbrother, L. Francioli, Birgit H Funke, Monica A. Giovanni, R. Handsaker, Kasper Lage, Matthew S. Lebo, M. Lek, I. Leshchiner, D. MacArthur, Heather M. McLaughlin, Michael F. Murray, T. Pers, P. Polak, Soumya Raychaudhuri, H. L. Rehm, Rachel Soemedi, N. Stitziel, Sara Vestecka, Jochen Supper, Claudia Gugenmus, B. Klocke, Alexander Hahn, M. Schubach, Mortiz Menzel, Saskia Biskup, P. Freisinger, M. Deng, Martin Braun, Sven Perner, R. Smith, Janeen L Andorf, Jian Huang, Kelli Ryckman, V. Sheffield, E. Stone, Thomas Bair, E. Black-Ziegelbein, Terry A Braun, B. Darbro, Adam P. DeLuca, D. Kolbe, T. Scheetz, A. Shearer, Rama Sompallae, Kai Wang, A. Bassuk, Erik Edens, K. Mathews, Steven A Moore, O. Shchelochkov, Pamela Trapane, A. Bossler, Colleen A. Campbell, J. Heusel, A. Kwitek, Tara Maga, Karin Panzer, T. Wassink, Douglas Van Daele, H. Azaiez, K. Booth, Nic Meyer, Michael M. Segal, Marc S. Williams, Gerard Tromp, Peter S. White, Donald Corsmeier, Sara Fitzgerald-Butt, Gail Herman, Devon Lamb-Thrush, Kim L McBride, D. Newsom, Christopher R. Pierson, Alexander T Rakowsky, A. Maver, L. LovrečiΔ‡, A. Palandačič, B. Peterlin, Ali Torkamani, Anna Wedell, Mikael Huss, A. Alexeyenko, Jessica M Lindvall, MΓ₯ns Magnusson, Daniel Nilsson, H. Stranneheim, F. Taylan, C. Gilissen, A. Hoischen, B. V. van Bon, H. Yntema, M. Nelen, Weidong Zhang, Jason Sager, Lu Zhang, Kathryn Blair, Deniz Kural, M. Cariaso, Greg G Lennon, Asif Javed, Saloni Agrawal, Pauline C Ng, Komal S Sandhu, Shuba Krishna, V. Veeramachaneni, O. Isakov, Eran Halperin, Eitan Friedman, N. Shomron, G. Glusman, J. Roach, Juan Caballero, Hannah C Cox, Denise E. Mauldin, S. Ament, L. Rowen, Daniel R Richards, F. A. S. Lucas, M. Gonzalez-Garay, C. T. Caskey, Yu Bai, Ying Huang, Fang Fang, Yan Zhang, Zhengyuan Wang, Jorge Barrera, J. M. GarcΓ­a-Lobo, Domingo GonzΓ‘lez-LamuΓ±o, Javier Llorca, Maria C Rodriguez, Ignacio Varela, Martin G Reese, Francisco M. De La Vega, Edward S. Kiruluta, Michele Cargill, Reece K. Hart, Jon M Sorenson, G. Lyon, David A Stevenson, Bruce E Bray, Barry Moore, K. Eilbeck, M. Yandell, Hongyu Zhao, Lin Hou, Xiaowei Chen, Xiting Yan, Mengjie Chen, Cong Li, Can Yang, Murat Gunel, Peining Li, Yong Kong, Austin C Alexander, Z. Albertyn, K. Boycott, Dennis E. Bulman, Paul MK Gordon, A. Innes, B. Knoppers, Jacek Majewski, Christian R. Marshall, J. Parboosingh, Sarah L. Sawyer, M. E. Samuels, J. Schwartzentruber, I. Kohane, D. Margulies
8 2014
8
🐜
🐜 NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling.
7 auth. K. McBride, Maurisa F. Riley, Gloria A Zender, Sara Fitzgerald-Butt, J. Towbin, J. Belmont, ... S. Cole
7 2008
7
🐜
🐜 Linkage analysis of left ventricular outflow tract malformations (aortic valve stenosis, coarctation of the aorta, and hypoplastic left heart syndrome)
10 auth. K. McBride, Gloria A Zender, Sara Fitzgerald-Butt, D. Koehler, Andres Menesses-Diaz, S. Fernbach, ... Kwanghyuk Lee, J. Towbin, S. Leal, J. Belmont
6 2009
6
🐜
🐜 Rare GATA5 sequence variants identified in individuals with bicuspid aortic valve
7 auth. Elizabeth M. Bonachea, Sheng-Wei Chang, Gloria A Zender, S. LaHaye, Sara Fitzgerald-Butt, K. McBride, ... V. Garg
6 2014
6
🐜
🐜 Utilization of Whole Exome Sequencing to Identify Causative Mutations in Familial Congenital Heart Disease
10 auth. S. LaHaye, D. Corsmeier, Madhumita Basu, Jessica L. Bowman, Sara Fitzgerald-Butt, Gloria A Zender, ... K. Bosse, K. McBride, P. White, V. Garg
6 2016
6
🐜
🐜 Use of a targeted, combinatorial next-generation sequencing approach for the study of bicuspid aortic valve
8 auth. Elizabeth M. Bonachea, Gloria A Zender, P. White, D. Corsmeier, D. Newsom, Sara Fitzgerald-Butt, ... V. Garg, K. McBride
5 2014
5
🐜
🐜 Association of common variants in ERBB4 with congenital left ventricular outflow tract obstruction defects.
9 auth. K. McBride, Gloria A Zender, Sara Fitzgerald-Butt, Nikki J Seagraves, S. Fernbach, G. Zapata, ... M. Lewin, J. Towbin, J. Belmont
5 2011
5
🐜
🐜 Understanding of informed consent by parents of children enrolled in a genetic biobank
7 auth. J. Klima, Sara Fitzgerald-Butt, Kelly J. Kelleher, D. Chisolm, R. Dawn Comstock, A. Ferketich, ... Kim L. McBride
5 2013
5
🐜
🦁 Measuring genetic knowledge: a brief survey instrument for adolescents and adults
10 auth. Sara Fitzgerald-Butt, Sara Fitzgerald-Butt, Andrew James Bodine, K. M. Fry, J. Ash, Ali N. Zaidi, ... Vidu Garg, Vidu Garg, Cynthia A. Gerhardt, Kim L McBride
5 2016
5
🦁