Results 141 to 150 of about 55,630 (235)
Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation
New England Journal of Medicine, 2017 J. Posey, T. Harel, Pengfei Liu, J. Rosenfeld, Regis A. James, Zeynep Coban Akdemir, M. Walkiewicz, W. Bi, Rui Xiao, Yan Ding, F. Xia, A. Beaudet, D. Muzny, R. Gibbs, E. Boerwinkle, C. Eng, R. Sutton, C. Shaw, S. Plon, Yaping Yang, J. Lupski +20 moresemanticscholar +1 more sourceA quantitative, Bayesian-informed approach to gene-specific variant classification: Updated Expert Panel recommendations improve classification of TP53 germline variants for Li-Fraumeni syndrome. [PDF]
Genome MedFortuno C, Frone MN, Mester J, de la Hoya M, Mai PL, Pesaran T, Achatz MI, Bassett R, Bustamante C, Crowley S, de Andrade KC, Evans DG, Feng B, Fuqua L, Harrell MI, Hatton JN, Huether R, Kesserwan C, Lee K, MacFarland SP, Maciaszek JL, Maxwell K, McGoldrick K, Murphy M, Nehoray B, Penkert J, Pinto EM, Plon SE, Schwartz-Levine A, Thompson AS, Wang W, Zambetti GP, Zelley K, James PA, Savage SA, Kratz CP, Spurdle AB. +36 moreeuropepmc +1 more sourcePathogenic Germline Variants in 10,389 Adult Cancers.
Cell, 2018 Kuan-lin Huang, R. J. Mashl, Yige Wu, D. Ritter, Jiayin Wang, C. Oh, M. Paczkowska, Sheila M. Reynolds, Matthew A. Wyczalkowski, Ninad Oak, Adam D. Scott, M. Krassowski, A. Cherniack, Kathleen E. Houlahan, R. Jayasinghe, Liang-Bo Wang, D. Zhou, Ding-wei Liu, Song Cao, Young Won Kim, Amanda M Koire, Joshua F. McMichael, V. Hucthagowder, Taebeom Kim, A. Hahn, Chen Wang, M. McLellan, F. Al-Mulla, Kimberly J. Johnson, O. Lichtarge, P. Boutros, Benjamin J. Raphael, A. Lazar, Wei Zhang, M. Wendl, R. Govindan, Sanjay Jain, D. Wheeler, S. Kulkarni, J. Dipersio, J. Reimand, F. Meric-Bernstam, Ken Chen, I. Shmulevich, S. Plon, F. Chen, L. Ding, Samantha J. Caesar-Johnson, John A. Demchok, Ina Felau, M. Kasapi, M. Ferguson, C. Hutter, H. Sofia, R. Tarnuzzer, Zhining Wang, Liming Yang, J. Zenklusen, J. Zhang, Sudha Chudamani, Jia Liu, Laxmi Lolla, R. Naresh, T. Pihl, Qiang Sun, Yunhu Wan, Ye Wu, Juok Cho, T. DeFreitas, S. Frazer, Nils Gehlenborg, G. Getz, David I Heiman, Jaegil Kim, M. Lawrence, Pei Lin, S. Meier, M. Noble, G. Saksena, Douglas Voet, Hailei Zhang, Brady Bernard, N. Chambwe, Varsha Dhankani, T. Knijnenburg, R. Kramer, Kalle Leinonen, Yuexin Liu, Michael Miller, V. Thorsson, Rehan Akbani, B. Broom, A. Hegde, Z. Ju, R. Kanchi, Anil Korkut, Jun Li, Han Liang, Shiyun Ling, Wenbin Liu, Yiling Lu, G. Mills, Kwok-shing Ng, A. Rao, Michael J. Ryan, Jing Wang, J. Weinstein, Jiexin Zhang, Adam Abeshouse, J. Armenia, D. Chakravarty, Walid K. Chatila, I. Bruijn, Jianjiong Gao, Benjamin E. Gross, Zachary J. Heins, Ritika Kundra, Konnor C. La, M. Ladanyi, Augustin Luna, Moriah G. Nissan, Angelica Ochoa, Sarah M. Phillips, Ed Reznik, F. Sánchez-Vega, C. Sander, N. Schultz, R. Sheridan, S. O. Sumer, Yichao Sun, B. Taylor, Jioajiao Wang, Hongxin Zhang, Pavana Anur, Myron Peto, P. Spellman, C. Benz, Joshua M. Stuart, Christopher K. Wong, C. Yau, D. Hayes, J. Parker, M. Wilkerson, Adrian Ally, Miruna Balasundaram, R. Bowlby, Denise Brooks, R. Carlsen, E. Chuah, Noreen Dhalla, Robert W. Holt, Steven J. M. Jones, K. Kasaian, Darlene Lee, Yussanne Ma, M. Marra, Michael Mayo, Richard A. Moore, A. Mungall, K. Mungall, A. G. Robertson, S. Sadeghi, J. Schein, Payal Sipahimalani, Angela Tam, N. Thiessen, Kane Tse, Tina Wong, Ashton C. Berger, R. Beroukhim, C. Cibulskis, S. Gabriel, G. Gao, G. Ha, M. Meyerson, S. Schumacher, J. Shih, M. Kucherlapati, R. Kucherlapati, Stephen Baylin, L. Cope, Ludmila V. Danilova, Moiz Bootwalla, Phillip H. Lai, D. Maglinte, D. V. Berg, D. Weisenberger, J. Auman, S. Balu, T. Bodenheimer, C. Fan, K. Hoadley, A. Hoyle, S. Jefferys, Corbin D. Jones, S. Meng, P. Mieczkowski, Lisle E. Mose, Amy H. Perou, C. Perou, J. Roach, Yan Shi, J. Simons, Tara J. Skelly, Matthew G. Soloway, Donghui Tan, Umadevi Veluvolu, Huihui Fan, T. Hinoue, P. Laird, Hui Shen, Wanding Zhou, Michelle Bellair, K. Chang, K. Covington, C. Creighton, H. Dinh, H. Doddapaneni, L. Donehower, J. Drummond, R. Gibbs, R. Glenn, Walker Hale, Yi Han, Jianhong Hu, V. Korchina, Sandy Lee, L. Lewis, Wei Li, Xiuping Liu, M. Morgan, Donna Morton, D. Muzny, J. Santibanez, Margi Sheth, E. Shinbrot, Linghua Wang, Min Wang, D. Wheeler, Liu Xi, Fengmei Zhao, J. Hess, Elizabeth L. Appelbaum, Matthew H. Bailey, M. Cordes, C. Fronick, L. Fulton, R. Fulton, C. Kandoth, E. Mardis, Christopher A. Miller, Heather K. Schmidt, R. Wilson, D. Crain, Erin E. Curley, J. Gardner, Kevin R Lau, D. Mallery, S. Morris, J. Paulauskis, R. Penny, C. Shelton, T. Shelton, M. Sherman, E. Thompson, P. Yena, Jay Bowen, J. Gastier-Foster, M. Gerken, K. Leraas, T. Lichtenberg, N. Ramirez, L. Wise, E. Zmuda, N. Corcoran, T. Costello, C. Hovens, A. Carvalho, A. D. Carvalho, José H. Fregnani, A. Longatto-Filho, R. Reis, C. Scapulatempo-Neto, H. C. Silveira, D. O. Vidal, Andrew Burnette, J. Eschbacher, B. Hermes, Ardene Noss, Rosy Singh, Matthew L. Anderson, Patricia D. Castro, M. Ittmann, D. Huntsman, B. Kohl, X. Le, Richard A. Thorp, C. Andry, Elizabeth R. Duffy, V. Lyadov, O. Paklina, G. Setdikova, A. Shabunin, M. Tavobilov, C. McPherson, R. Warnick, R. Berkowitz, Daniel Cramer, C. Feltmate, N. Horowitz, A. Kibel, M. Muto, C. Raut, A. Malykh, J. Barnholtz-Sloan, Wendi Barrett, K. Devine, J. Fulop, Q. Ostrom, K. Shimmel, Yingli Wolinsky, A. Sloan, A. D. Rose, F. Giuliante, M. Goodman, B. Karlan, C. Hagedorn, J. Eckman, Jodi Harr, J. Myers, Kelinda Tucker, L. A. Zach, B. Deyarmin, Hai Hu, L. Kvecher, C. Larson, R. Mural, S. Somiari, A. Vícha, T. Zelinka, Joseph Bennett, M. Iacocca, B. Rabeno, P. Swanson, M. Latour, L. Lacombe, B. Têtu, A. Bergeron, Mary McGraw, S. Staugaitis, J. Chabot, H. Hibshoosh, Antonia R. Sepulveda, Tao Su, Timothy C. Wang, O. Potapova, Olga Voronina, L. Desjardins, O. Mariani, S. Roman-Roman, X. Sastre, M. Stern, F. Cheng, S. Signoretti, A. Berchuck, D. Bigner, E. Lipp, J. Marks, S. McCall, R. McLendon, A. Secord, A. Sharp, M. Behera, D. Brat, Amy Y. Chen, K. Delman, S. Force, F. Khuri, K. Magliocca, S. Maithel, J. Olson, T. Owonikoko, A. Pickens, S. Ramalingam, Dong-Myung Shin, G. Sica, Erwin G. Van Meir, Hongzhen Zhang, Wil Eijckenboom, A. Gillis, E. Korpershoek, L. Looijenga, W. Oosterhuis, H. Stoop, K. V. Kessel, E. Zwarthoff, C. Calatozzolo, L. Cuppini, S. Cuzzubbo, F. DiMeco, G. Finocchiaro, L. Mattei, A. Perin, B. Pollo, Chu Chen, J. Houck, Pawadee Lohavanichbutr, A. Hartmann, C. Stoehr, R. Stoehr, H. Taubert, S. Wach, B. Wullich, W. Kycler, D. Murawa, M. Wiznerowicz, K. Chung, W. Edenfield, Julie M Martin, E. Baudin, G. Bubley, R. Bueno, A. Rienzo, W. Richards, S. Kalkanis, T. Mikkelsen, H. Noushmehr, L. Scarpace, N. Girard, M. Aymerich, E. Campo, E. Giné, A. Guillermo, N. V. Bang, Phan Thi Hong Hanh, Bui Duc Phu, Yufang Tang, H. Colman, K. Evason, P. Dottino, J. Martignetti, H. Gabra, H. Juhl, Teniola Akeredolu, Serghei Stepa, D. Hoon, K. Ahn, K. Kang, F. Beuschlein, A. Breggia, M. Birrer, D. Bell, M. Borad, A. Bryce, Erik Castle, V. Chandan, J. Cheville, J. Copland, M. Farnell, T. Flotte, N. Giama, T. Ho, Michael J. Kendrick, J. Kocher, Karla J. Kopp, C. Moser, D. Nagorney, D. O'Brien, B. O'neill, T. Patel, G. Petersen, F. Que, M. Rivera, L. Roberts, R. Smallridge, T. Smyrk, M. Stanton, R. Thompson, M. Torbenson, J. D. Yang, Lizhi Zhang, F. Brimo, J. Ajani, Ana Maria Angulo Gonzalez, C. Behrens, J. Bondaruk, R. Broaddus, B. Czerniak, B. Esmaeli, J. Fujimoto, J. Gershenwald, Charles C. Guo, C. Logothetis, C. Moran, L. Ramondetta, D. Rice, A. Sood, P. Tamboli, T. Thompson, P. Troncoso +499 moresemanticscholar +1 more sourceAn evaluation of genetic predisposition to congenital anomalies and pediatric cancer supports <i>KAT6B</i> as a novel neuroblastoma susceptibility gene. [PDF]
Genet Med OpenGu H, Yu Y, Sisoudiya SD, Mishra P, Li H, Schraw JM, Scheurer ME, Muzny DM, Mitchell D, Taylor O, Jhangiani SN, Dugan-Perez S, Wu Y, Doddapaneni H, Bhamidipati SV, Gingras MC, Posey JE, Gibbs RA, Huff CD, Plon SE, Lupo PJ, Sabo A. +21 moreeuropepmc +1 more sourceGermline Pathogenic DROSHA Variants Are Linked to Pineoblastoma and Wilms Tumor Predisposition. [PDF]
Clin Cancer ResFiorica PN, Golmard L, Kim J, Bao R, Lin FY, Roy A, Pribnow A, Perrino MR, Masliah-Planchon J, Michalak-Provost S, Wong J, Filser M, Stoppa-Lyonnet D, Bourdeaut F, Brahimi A, Ingster O, Saulnier Sholler G, Jackson SA, Sasaki MM, Fowler T, Ng A, Corbett RJ, Kaufman RS, Haley JS, Carey DJ, Huang KL, Diskin SJ, Rokita JL, Al-Kateb H, McGee RB, Schiffman JD, Chen KS, Stewart DR, Williams Parsons D, Plon SE, Schultz KAP, Onel K. +36 moreeuropepmc +1 more sourceComparing the Diagnostic Yield of Germline Exome Versus Panel Sequencing in the Diverse Population of the Texas KidsCanSeq Pediatric Cancer Study. [PDF]
JCO Precis OncolDesrosiers-Battu LR, Wang T, Reuther J, Miles G, Dai H, Jo E, Russell H, Raesz-Martinez R, Recinos A, Gutierrez S, Thomas A, Berenson E, Corredor J, Nugent K, Wyatt Castillo R, Althaus R, Littlejohn R, Gessay S, Tomlinson G, Gill J, Bernini JC, Vallance K, Griffin T, Scollon S, Lin FY, Eng C, Kulkarni S, Hilsenbeck SG, Roy A, McGuire AL, Parsons DW, Plon SE. +31 moreeuropepmc +1 more sourceDesign and implementation of an action plan for justice, equity, diversity, and inclusion within the Clinical Genome Resource. [PDF]
Am J Hum GenetPopejoy AB, Ritter DI, Azzariti D, Berg JS, Bulkley JE, Cho M, Gonzaga-Jauregui C, Klein TE, Martschenko DO, Oni-Orisan A, Ramos EM, Rehm HL, Riggs ER, Wright MW, Yudell M, Plon SE, Morales J. +16 moreeuropepmc +1 more source
