Assessing structural variation in a personal genome-towards a human reference diploid genome von English, Adam C, Salerno, William J, Hampton, Oliver A, Gonzaga-Jauregui, Claudia, Ambreth, Shruthi, Ritter, Deborah I, Beck, Christine R, Davis, Caleb F, Dahdouli, Mahmoud, Ma, Singer, Carroll, Andrew, Veeraraghavan, Narayanan, Bruestle, Jeremy, Drees, Becky, Hastie, Alex, Lam, Ernest T, White, Simon, Mishra, Pamela, Wang, Min, Han, Yi, Zhang, Feng, Stankiewicz, Pawel, Wheeler, David A, Reid, Jeffrey G, Muzny, Donna M, Rogers, Jeffrey, Sabo, Aniko, Worley, Kim C, Lupski, James R, Boerwinkle, Eric, Gibbs, Richard A

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Somatic cancer variant curation and harmonization through consensus minimum variant level data von Ritter, Deborah I, Roychowdhury, Sameek, Roy, Angshumoy, Rao, Shruti, Landrum, Melissa J, Sonkin, Dmitriy, Shekar, Mamatha, Davis, Caleb F, Hart, Reece K, Micheel, Christine, Weaver, Meredith, Van Allen, Eliezer M, Parsons, Donald W, McLeod, Howard L, Watson, Michael S, Plon, Sharon E, Kulkarni, Shashikant, Madhavan, Subha

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Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10 von Ashizawa, Tetsuo, Matsuura, Tohru, Yamagata, Takanori, Burgess, Daniel L, Rasmussen, Astrid, Grewal, Raji P, Watase, Kei, Khajavi, Mehrdad, McCall, Alanna E, Davis, Caleb F, Zu, Lan, Achari, Madhureeta, Pulst, Stefan M, Alonso, Elisa, Noebels, Jeffrey L, Nelson, David L, Zoghbi, Huda Y

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The Somatic Genomic Landscape of Chromophobe Renal Cell Carcinoma von Davis, Caleb F., Ricketts, Christopher J., Wang, Min, Kim, Sang Cheol, Hacker, Kathryn E., Bhanot, Gyan, Gordenin, Dmitry A., Biehl, Michael, Kaipparettu, Benny A., Donehower, Lawrence A., Tamboli, Pheroze, Hsieh, James J., Hakimi, A. Ari, Creighton, Chad J., Davis, Caleb F., Morgan, Margaret, Donehower, Lawrence A., Wheeler, David A., Cherniack, Andrew D., Choueiri, Toni K., Kwiatkowski, David J., Hakimi, A. Ari, Ricketts, Christopher, Rathmell, W. Kimryn, Smith, Angela B., Wallen, Eric M., Muzny, Donna, Xi, Liu, Reid, Jeffrey G., Downs, Brittany, Doddapaneni, Harsha, Lewis, Lora, English, Adam, Meng, Qingchang, Kovar, Christie, Hale, Walker, Sougnez, Carrie, Getz, Gad, Beroukhim, Rameen, Gabriel, Stacey B., Balasundaram, Miruna, Dhalla, Noreen, Guin, Ranabir, Holt, Robert A., Lee, Darlene, Lim, Emilia, Sipahimalani, Payal, Thiessen, Nina, Jones, Steven J.M., Hoadley, Katherine A., Mieczkowski, Piotr A., Roach, Jeffrey, Wu, Junyuan, Hoyle, Alan P., Balu, Saianand, Hayes, D. Neil, Bootwalla, Moiz S., Chen, Fengju, Noble, Michael S., DiCara, Daniel, Zou, Lihua, Chin, Lynda, Protopopov, Alexei, Song, Xingzhi, Lee, Eunjung, Luquette, Lovelace J., Lee, Semin, Xu, Andrew W., Kucherlapati, Raju, Park, Peter J., Fargo, David, Choi, Yoon-La, Lee, June-Koo, Akbani, Rehan, Weinstein, John N., Haussler, David, Lichtenberg, Tara M., Leraas, Kristen M., Kaelin, William G., Vocke, Cathy, Worrell, Robert, Merino, Maria, Spellman, Paul T., Cheville, John, Baboud, Julien, Velaga, Sudhakar, Liu, Jia, Chudamani, Sudha, Wu, Ye, Sheth, Margi, Mills Shaw, Kenna R., Yang, Liming, Wang, Zhining, Hutter, Carolyn M., Sofia, Heidi J., Kucherlapati, Raju, Park, Woong-Yang, Robertson, A. Gordon, Kwiatkowski, David J., Park, Peter J.

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Focused Analysis of Exome Sequencing Data for Rare Germline Mutations in Familial and Sporadic Lung Cancer von Liu, Yanhong, Kheradmand, Farrah, Davis, Caleb F., Scheurer, Michael E., Wheeler, David, Tsavachidis, Spiridon, Armstrong, Georgina, Simpson, Claire, Mandal, Diptasri, Kupert, Elena, Anderson, Marshall, You, Ming, Xiong, Donghai, Pikielny, Claudio, Schwartz, Ann G., Bailey-Wilson, Joan, Gaba, Colette, De Andrade, Mariza, Yang, Ping, Pinney, Susan M., Amos, Christopher I., Spitz, Margaret R.

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Stargazin and Other Transmembrane AMPA Receptor Regulating Proteins Interact with Synaptic Scaffolding Protein MAGI-2 in Brain von Deng, Fang, Price, Maureen G, Davis, Caleb F, Mori, Mayra, Burgess, Daniel L

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Identifying gene disruptions in novel balanced de novo constitutional translocations in childhood cancer patients by whole-genome sequencing von Ritter, Deborah I., Haines, Katherine, Cheung, Hannah, Davis, Caleb F., Lau, Ching C., Berg, Jonathan S., Brown, Chester W., Thompson, Patrick A., Gibbs, Richard, Wheeler, David A., Plon, Sharon E.

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MolecularMatch LAB Integrates Knowledgebases for Collaborative Clinical Interpretation of Variation in Cancer von Duren, Ryan, Neeley, Shane, Welsh, James W, Tackes, Nick, Li, Xuan S, Davis, Caleb F

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The α-Amino-3-hydroxyl-5-methyl-4-isoxazolepropionate Receptor Trafficking Regulator “Stargazin” Is Related to the Claudin Family of Proteins by Its Ability to Mediate Cell-Cell Ad... von Price, Maureen G., Davis, Caleb F., Deng, Fang, Burgess, Daniel L.

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SV-STAT accurately detects structural variation via alignment to reference-based assemblies von Davis, Caleb F, Ritter, Deborah I, Wheeler, David A, Wang, Hongmei, Ding, Yan, Dugan, Shannon P, Bainbridge, Matthew N, Muzny, Donna M, Rao, Pulivarthi H, Man, Tsz-Kwong, Plon, Sharon E, Gibbs, Richard A, Lau, Ching C

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Abstract 1525: Exome sequencing to identify permissive mutations representing acquired vulnerabilities in lung cancer von Larsen, Jill E., Davis, Caleb F., Huffman, Kenneth, Girard, Luc, Wheeler, David A., Gibbs, Richard A., Minna, John D.

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42 - MolecularMatch LAB Integrates Knowledgebases for Collaborative Clinical Interpretation of Variation in Cancer von Duren, Ryan, Neeley, Shane, Welsh, James W., Tackes, Nick, Li, Xuan S, Davis, Caleb F.

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Abstract 5589: Molecular signatures of in vitro drug response in lung cancer von Girard, Luc, Peyton, Michael, Wistuba, Ignacio, Xie, Yang, Greer, Rachel, Suraokar, Milind B., Behrens, Carmen, Xiao, Guanghua, Heymach, John, Wheeler, David A., Davis, Caleb F., Huffman, Kenneth, Shames, David S., Coombes, Kevin R., Gazdar, Adi F., Lam, David CL, Beer, David G., Minna, John D.

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Identification of three novel Ca(2+) channel gamma subunit genes reveals molecular diversification by tandem and chromosome duplication von Burgess, D L, Davis, C F, Gefrides, L A, Noebels, J L

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Identification of Three Novel Ca2+ Channel γ Subunit Genes Reveals Molecular Diversification by Tandem and Chromosome Duplication von Burgess, Daniel L., Davis, Caleb F., Gefrides, Lisa A., Noebels, Jeffrey L.

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The α-Amino-3-hydroxyl-5-methyl-4-isoxazolepropionate Receptor Trafficking Regulator “Stargazin” Is Related to the Claudin Family of Proteins by Its Ability to Mediate Cell-Ce... von Maureen G. Price, Caleb F. Davis, Fang Deng, Daniel L. Burgess

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Identification of Three Novel Ca 2+ Channel γ Subunit Genes Reveals Molecular Diversification by Tandem and Chromosome Duplication von Burgess, Daniel L., Davis, Caleb F., Gefrides, Lisa A., Noebels, Jeffrey L.

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Vascular dysfunction—The disregarded partner of Alzheimer's disease von Sweeney, Melanie D., Montagne, Axel, Sagare, Abhay P., Nation, Daniel A., Schneider, Lon S., Chui, Helena C., Harrington, Michael G., Pa, Judy, Law, Meng, Wang, Danny J.J., Jacobs, Russell E., Doubal, Fergus N., Ramirez, Joel, Black, Sandra E., Nedergaard, Maiken, Benveniste, Helene, Dichgans, Martin, Iadecola, Costantino, Love, Seth, Bath, Philip M., Markus, Hugh S., Salman, Rustam A., Allan, Stuart M., Quinn, Terence J., Kalaria, Rajesh N., Werring, David J., Carare, Roxana O., Touyz, Rhian M., Williams, Steve C.R., Moskowitz, Michael A., Katusic, Zvonimir S., Lutz, Sarah E., Lazarov, Orly, Minshall, Richard D., Rehman, Jalees, Davis, Thomas P., Wellington, Cheryl L., González, Hector M., Yuan, Chun, Lockhart, Samuel N., Hughes, Timothy M., Chen, Christopher L.H., Sachdev, Perminder, O'Brien, John T., Skoog, Ingmar, Pantoni, Leonardo, Gustafson, Deborah R., Biessels, Geert Jan, Wallin, Anders, Smith, Eric E., Mok, Vincent, Wong, Adrian, Passmore, Peter, Barkof, Frederick, Muller, Majon, Breteler, Monique M.B., Román, Gustavo C., Hamel, Edith, Seshadri, Sudha, Gottesman, Rebecca F., van Buchem, Mark A., Arvanitakis, Zoe, Schneider, Julie A., Drewes, Lester R., Hachinski, Vladimir, Finch, Caleb E., Toga, Arthur W., Wardlaw, Joanna M., Zlokovic, Berislav V.

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Enhanced Age-Dependent Motor Impairment in Males of Drosophila melanogaster Modeling Spinocerebellar Ataxia Type 1 Is Linked to Dysregulation of a Matrix Metalloproteinase von Palmer, Emma M, Snoddy, Caleb A, York, Peyton M, Davis, Sydney M, Hunter, Madelyn F, Krishnan, Natraj

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The Serine Hydrolase ABHD6 Is a Critical Regulator of the Metabolic Syndrome von Thomas, Gwynneth, Betters, Jenna L., Lord, Caleb C., Brown, Amanda L., Marshall, Stephanie, Ferguson, Daniel, Sawyer, Janet, Davis, Matthew A., Melchior, John T., Blume, Lawrence C., Howlett, Allyn C., Ivanova, Pavlina T., Milne, Stephen B., Myers, David S., Mrak, Irina, Leber, Vera, Heier, Christoph, Taschler, Ulrike, Blankman, Jacqueline L., Cravatt, Benjamin F., Lee, Richard G., Crooke, Rosanne M., Graham, Mark J., Zimmermann, Robert, Brown, H. Alex, Brown, J. Mark

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