A framework for the interpretation of de novo mutation in human disease von Samocha, Kaitlin E, Robinson, Elise B, Sanders, Stephan J, Stevens, Christine, Sabo, Aniko, McGrath, Lauren M, Kosmicki, Jack A, Rehnström, Karola, Mallick, Swapan, Kirby, Andrew, Wall, Dennis P, MacArthur, Daniel G, Gabriel, Stacey B, DePristo, Mark, Purcell, Shaun M, Palotie, Aarno, Boerwinkle, Eric, Buxbaum, Joseph D, Cook, Edwin H, Gibbs, Richard A, Schellenberg, Gerard D, Sutcliffe, James S, Devlin, Bernie, Roeder, Kathryn, Neale, Benjamin M, Daly, Mark J

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Germline Cancer Predisposition Variants in Pediatric Rhabdomyosarcoma: A Report From the Children’s Oncology Group von Li, He, Sisoudiya, Saumya D, Martin-Giacalone, Bailey A, Khayat, Michael M, Dugan-Perez, Shannon, Marquez-Do, Deborah A, Scheurer, Michael E, Muzny, Donna, Boerwinkle, Eric, Gibbs, Richard A, Chi, Yueh-Yun, Barkauskas, Donald A, Lo, Tammy, Hall, David, Stewart, Douglas R, Schiffman, Joshua D, Skapek, Stephen X, Hawkins, Douglas S, Plon, Sharon E, Sabo, Aniko, Lupo, Philip J

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Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome von Lindstrand, Anna, Frangakis, Stephan, Carvalho, Claudia M.B., Richardson, Ellen B., McFadden, Kelsey A., Willer, Jason R., Pehlivan, Davut, Liu, Pengfei, Pediaditakis, Igor L., Sabo, Aniko, Lewis, Richard Alan, Banin, Eyal, Lupski, James R., Davis, Erica E., Katsanis, Nicholas

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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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Recurrent CNVs and SNVs at the NPHP1 Locus Contribute Pathogenic Alleles to Bardet-Biedl Syndrome von Lindstrand, Anna, Davis, Erica E., Carvalho, Claudia M.B., Pehlivan, Davut, Willer, Jason R., Tsai, I-Chun, Ramanathan, Subhadra, Zuppan, Craig, Sabo, Aniko, Muzny, Donna, Gibbs, Richard, Liu, Pengfei, Lewis, Richard A., Banin, Eyal, Lupski, James R., Clark, Robin, Katsanis, Nicholas

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Genetic testing in ambulatory cardiology clinics reveals high rate of findings with clinical management implications von Murdock, David R., Venner, Eric, Muzny, Donna M., Metcalf, Ginger A., Murugan, Mullai, Hadley, Trevor D., Chander, Varuna, de Vries, Paul S., Jia, Xiaoming, Hussain, Aliza, Agha, Ali M., Sabo, Aniko, Li, Shoudong, Meng, Qingchang, Hu, Jianhong, Tian, Xia, Cohen, Michelle, Yi, Victoria, Kovar, Christie L., Gingras, Marie-Claude, Korchina, Viktoriya, Howard, Chad, Riconda, Daniel L., Pereira, Stacey, Smith, Hadley S., Huda, Zohra A., Buentello, Alexandria, Marino, Patricia R., Leiber, Lee, Balasubramanyam, Ashok, Amos, Christopher I., Civitello, Andrew B., Chelu, Mihail G., Maag, Ronald, McGuire, Amy L., Boerwinkle, Eric, Wehrens, Xander H. T., Ballantyne, Christie M., Gibbs, Richard A.

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Identification of Genes Subject to Positive Selection in Uropathogenic Strains of Escherichia coli: A Comparative Genomics Approach von Chen, Swaine L., Hung, Chia-Seui, Xu, Jian, Reigstad, Christopher S., Magrini, Vincent, Sabo, Aniko, Blasiar, Darin, Bieri, Tamberlyn, Meyer, Rekha R., Ozersky, Philip, Armstrong, Jon R., Fulton, Robert S., Latreille, J. Phillip, Spieth, John, Hooton, Thomas M., Mardis, Elaine R., Hultgren, Scott J., Gordon, Jeffrey I.

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Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls von Liu, Li, Sabo, Aniko, Neale, Benjamin M, Nagaswamy, Uma, Stevens, Christine, Lim, Elaine, Bodea, Corneliu A, Muzny, Donna, Reid, Jeffrey G, Banks, Eric, Coon, Hillary, Depristo, Mark, Dinh, Huyen, Fennel, Tim, Flannick, Jason, Gabriel, Stacey, Garimella, Kiran, Gross, Shannon, Hawes, Alicia, Lewis, Lora, Makarov, Vladimir, Maguire, Jared, Newsham, Irene, Poplin, Ryan, Ripke, Stephan, Shakir, Khalid, Samocha, Kaitlin E, Wu, Yuanqing, Boerwinkle, Eric, Buxbaum, Joseph D, Cook, Jr, Edwin H, Devlin, Bernie, Schellenberg, Gerard D, Sutcliffe, James S, Daly, Mark J, Gibbs, Richard A, Roeder, Kathryn

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Exome‐wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child–parent trios and a case–control design to identify novel ra... von Sok, Pagna, Sabo, Aniko, Almli, Lynn M., Jenkins, Mary M., Nembhard, Wendy N., Agopian, A. J., Bamshad, Michael J., Blue, Elizabeth E., Brody, Lawrence C., Brown, Austin L., Browne, Marilyn L., Canfield, Mark A., Carmichael, Suzan L., Chong, Jessica X., Dugan‐Perez, Shannon, Feldkamp, Marcia L., Finnell, Richard H., Gibbs, Richard A., Kay, Denise M., Lei, Yunping, Meng, Qingchang, Moore, Cynthia A., Mullikin, James C., Muzny, Donna, Olshan, Andrew F., Pangilinan, Faith, Reefhuis, Jennita, Romitti, Paul A., Schraw, Jeremy M., Shaw, Gary M., Werler, Martha M., Harpavat, Sanjiv, Lupo, Philip J.

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Whole exome sequencing identifies novel genes for fetal hemoglobin response to hydroxyurea in children with sickle cell anemia von Sheehan, Vivien A, Crosby, Jacy R, Sabo, Aniko, Mortier, Nicole A, Howard, Thad A, Muzny, Donna M, Dugan-Perez, Shannon, Aygun, Banu, Nottage, Kerri A, Boerwinkle, Eric, Gibbs, Richard A, Ware, Russell E, Flanagan, Jonathan M

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Genetic diversity in India and the inference of Eurasian population expansion von Xing, Jinchuan, Watkins, W Scott, Hu, Ya, Huff, Chad D, Sabo, Aniko, Muzny, Donna M, Bamshad, Michael J, Gibbs, Richard A, Jorde, Lynn B, Yu, Fuli

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Community‐based recruitment and exome sequencing indicates high diagnostic yield in adults with intellectual disability von Sabo, Aniko, Murdock, David, Dugan, Shannon, Meng, Qingchang, Gingras, Marie‐Claude, Hu, Jianhong, Muzny, Donna, Gibbs, Richard

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Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model von McIntyre, Jeremy C, Davis, Erica E, Joiner, Ariell, Williams, Corey L, Tsai, I-Chun, Jenkins, Paul M, McEwen, Dyke P, Zhang, Lian, Escobado, John, Thomas, Sophie, Szymanska, Katarzyna, Johnson, Colin A, Beales, Philip L, Green, Eric D, Mullikin, James C, Program, NISC Comparative Sequencing, Sabo, Aniko, Muzny, Donna M, Gibbs, Richard A, Attié-Bitach, Tania, Yoder, Bradley K, Reed, Randall R, Katsanis, Nicholas, Martens, Jeffrey R

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Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders von Wang, Tianyun, Hoekzema, Kendra, Vecchio, Davide, Wu, Huidan, Sulovari, Arvis, Coe, Bradley P., Gillentine, Madelyn A., Wilfert, Amy B., Perez-Jurado, Luis A., Kvarnung, Malin, Sleyp, Yoeri, Earl, Rachel K., Rosenfeld, Jill A., Geisheker, Madeleine R., Han, Lin, Du, Bing, Barnett, Chris, Thompson, Elizabeth, Shaw, Marie, Carroll, Renee, Friend, Kathryn, Catford, Rachael, Palmer, Elizabeth E., Zou, Xiaobing, Ou, Jianjun, Li, Honghui, Guo, Hui, Gerdts, Jennifer, Avola, Emanuela, Calabrese, Giuseppe, Elia, Maurizio, Greco, Donatella, Lindstrand, Anna, Nordgren, Ann, Anderlid, Britt-Marie, Vandeweyer, Geert, Van Dijck, Anke, Van der Aa, Nathalie, McKenna, Brooke, Hancarova, Miroslava, Bendova, Sarka, Havlovicova, Marketa, Malerba, Giovanni, Bernardina, Bernardo Dalla, Muglia, Pierandrea, van Haeringen, Arie, Hoffer, Mariette J. V., Franke, Barbara, Cappuccio, Gerarda, Delatycki, Martin, Lockhart, Paul J., Manning, Melanie A., Liu, Pengfei, Scheffer, Ingrid E., Brunetti-Pierri, Nicola, Rommelse, Nanda, Amaral, David G., Santen, Gijs W. E., Trabetti, Elisabetta, Sedláček, Zdeněk, Michaelson, Jacob J., Pierce, Karen, Courchesne, Eric, Kooy, R. Frank, Nordenskjöld, Magnus, Romano, Corrado, Peeters, Hilde, Bernier, Raphael A., Gecz, Jozef, Xia, Kun, Eichler, Evan E.

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Exome variant discrepancies due to reference-genome differences von Li, He, Dawood, Moez, Khayat, Michael M., Farek, Jesse R., Jhangiani, Shalini N., Khan, Ziad M., Mitani, Tadahiro, Coban-Akdemir, Zeynep, Lupski, James R., Venner, Eric, Posey, Jennifer E., Sabo, Aniko, Gibbs, Richard A.

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845 Whole Exome Sequencing Identifies ABCB4 Gene Variants As Modifiers of Biliary Atresia Outcomes von Mezina, Anya, Gandhi, Khanjan, Sabo, Aniko, Muzny, Donna, Gibbs, Richard, Hegde, Madhuri, Karpen, Saul J

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Patterns and rates of exonic de novo mutations in autism spectrum disorders von Neale, Benjamin M., Kou, Yan, Liu, Li, Ma’ayan, Avi, Samocha, Kaitlin E., Sabo, Aniko, Lin, Chiao-Feng, Stevens, Christine, Wang, Li-San, Makarov, Vladimir, Polak, Paz, Yoon, Seungtai, Maguire, Jared, Crawford, Emily L., Campbell, Nicholas G., Geller, Evan T., Valladares, Otto, Schafer, Chad, Liu, Han, Zhao, Tuo, Cai, Guiqing, Lihm, Jayon, Dannenfelser, Ruth, Jabado, Omar, Peralta, Zuleyma, Nagaswamy, Uma, Muzny, Donna, Reid, Jeffrey G., Newsham, Irene, Wu, Yuanqing, Lewis, Lora, Han, Yi, Voight, Benjamin F., Lim, Elaine, Rossin, Elizabeth, Kirby, Andrew, Flannick, Jason, Fromer, Menachem, Shakir, Khalid, Fennell, Tim, Garimella, Kiran, Banks, Eric, Poplin, Ryan, Gabriel, Stacey, DePristo, Mark, Wimbish, Jack R., Boone, Braden E., Levy, Shawn E., Betancur, Catalina, Sunyaev, Shamil, Boerwinkle, Eric, Buxbaum, Joseph D., Cook Jr, Edwin H., Devlin, Bernie, Gibbs, Richard A., Roeder, Kathryn, Schellenberg, Gerard D., Sutcliffe, James S., Daly, Mark J.

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Comprehensive genomic characterization defines human glioblastoma genes and core pathways von McLendon, Roger, Friedman, Allan, Bigner, Darrell, Brat, Daniel J, M Mastrogianakis, Gena, Lehman, Norman, Aldape, Ken, Bogler, Oliver, Nazareth, Lynn, Hall, Otis, Zhu, Yiming, Jhangiani, Shalini, San Lucas, Anthony, Kovar, Christie, Dinh, Huyen, Santibanez, Jireh, Joshi, Vandita, Wilkinson, Jane, Onofrio, Robert, Ardlie, Kristin, Gabriel, Stacey, Ding, Li, McLellan, Michael D, Shi, Xiaoqi, Abbott, Rachel, Fulton, Lucinda, Meyer, Rick, Osborne, John R, Dunford-Shore, Brian H, Delehaunty, Kim, Swift, Gary, Pohl, Craig, Leong, Shin, Haipek, Carrie, Schmidt, Heather, Vickery, Tammi, Chinwalla, Asif, Weinstock, George M, Mardis, Elaine R, Verhaak, Roel GW, O'Kelly, Michael, Beroukhim, Rameen, Carter, Scott, Chiang, Derek, Gould, Josh, Korn, Josh, Mermel, Craig, Monti, Stefano, Nguyen, Huy, Parkin, Melissa, Stransky, Nicolas, Meyerson, Matthew, Protopopov, Alexei, Zhang, Jianhua, Perna, Ilana, Yao, Jun, Kim, Hyunsoo, Kohane, Isaac S, Seidman, Jon, Kucherlapati, Raju, Laird, Peter W, Cope, Leslie, Herman, James G, Weisenberger, Daniel J, Mi Yi, Joo, Southwick, Audrey, Aggarwal, Amita, Brooks, James D, Spellman, Paul T, Marr, Henry, Gi Choi, Yoon, Wang, Victoria, Robinson, Mark, Peng, Vivian, Fontenay, Gerald V, Parvin, Bahram, Speed, Terence P, Gray, Joe W, Brennan, Cameron, Olshen, Adam, Schultz, Nikolaus, Stukalov, Alexey, Cerami, Ethan, Qin, Li-Xuan, Ladanyi, Marc, Neil Hayes, D, Topal, Michael D, Shi, Yan, Penny, Robert, Lenkiewicz, Elizabeth, Morris, Scott, Kahn, Ari, Chen, Jessica, Nassau, David, Hickey, Erin, Vockley, Joseph, Vaught, Jim, Madhavan, Subhashree, Guyer, Mark, Thomson, Elizabeth

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Isolation and Barcoding of Trace Pollen-free DNA for Authentication of Honey von Chavan, Dimple, Adolacion, Jay R T., Crum, Mary, Nandy, Suman, Lee, Kyung Hyun, Vu, Binh, Kourentzi, Katerina, Sabo, Aniko, Willson, Richard C.

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Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders von Schaaf, Christian P., Sabo, Aniko, Sakai, Yasunari, Crosby, Jacy, Muzny, Donna, Hawes, Alicia, Lewis, Lora, Akbar, Humeira, Varghese, Robin, Boerwinkle, Eric, Gibbs, Richard A., Zoghbi, Huda Y.

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