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  1. 1.   Toward best practice in cancer mutation detection with whole-genome and whole-exome sequencing
  2. Xiao, Wenming; Ren, Luyao; Chen, Zhong; Fang, Li Tai; Zhao,Yongmei; Lack,Justin; Guan, Meijian; Zhu, Bin; Jaeger, Erich; Kerrigan, Liz; Blomquist, Thomas M.; Hung, Tiffany; Sultan, Marc; Idler, Kenneth; Lu, Charles; Scherer, Andreas; Kusko, Rebecca; Moos, Malcolm; Xiao, Chunlin; Sherry, Stephen T.; Abaan, Ogan D.; Chen, Wanqiu; Chen, Xin; Nordlund, Jessica; Liljedahl, Ulrika; Maestro, Roberta; Polano, Maurizio; Drabek, Jiri; Vojta, Petr; Koks, Sulev; Reimann, Ene; Madala, Bindu Swapna; Mercer, Timothy; Miller, Chris; Jacob, Howard; Truong, Tiffany; Moshrefi, Ali; Natarajan, Aparna; Granat, Ana; Schroth, Gary P.; Kalamegham, Rasika; Peters, Eric; Petitjean, Virginie; Walton,Ashley; Shen,Tsai-Wei; Talsania,Keyur; Vera, Cristobal Juan; Langenbach, Kurt; de Mars, Maryellen; Hipp, Jennifer A.; Willey, James C.; Wang, Jing; Shetty,Jyoti; Kriga,Yuliya; Raziuddin,Arati; Tran,Bao; Zheng, Yuanting; Yu, Ying; Cam, Margaret; Jailwala, Parthav; Meerzaman, Daoud; Chen, Qingrong; Yan, Chunhua; Ernest, Ben; Mehra, Urvashi; Jensen, Roderick; Jones, Wendell; Li, Jian-Liang; Papas, Brian N.; Pirooznia, Mehdi; Chen, Yun-Ching; Seifuddin, Fayaz; Li, Zhipan; Liu, Xuelu; Resch, Wolfgang; Wang, Jingya; Wu, Leihong; Yavas, Gokhan; Miles, Corey; Ning, Baitang; Tong, Weida; Mason, Christopher E.; Donaldson, Eric; Lababidi, Samir; Staudt, Louis M.; Tezak, Zivana; Hong, Huixiao; Wang, Charles; Shi, Leming
  3. Nature Biotechnology. 2021, Sep; 39(9): 1141-1150.
  1. 2.   Establishing community reference samples, data and call sets for benchmarking cancer mutation detection using whole-genome sequencing
  2. Fang, Li Tai; Zhu, Bin; Zhao,Yongmei; Chen, Wanqiu; Yang, Zhaowei; Kerrigan, Liz; Langenbach, Kurt; de Mars, Maryellen; Lu, Charles; Idler, Kenneth; Jacob, Howard; Zheng, Yuanting; Ren, Luyao; Yu, Ying; Jaeger, Erich; Schroth, Gary P.; Abaan, Ogan D.; Talsania,Keyur; Lack,Justin; Shen,Tsai-Wei; Chen, Zhong; Stanbouly, Seta; Tran,Bao; Shetty,Jyoti; Kriga,Yuliya; Meerzaman, Daoud; Nguyen, Cu; Petitjean, Virginie; Sultan, Marc; Cam, Margaret; Mehta,Monika; Hung, Tiffany; Peters, Eric; Kalamegham, Rasika; Sahraeian, Sayed Mohammad Ebrahim; Mohiyuddin, Marghoob; Guo, Yunfei; Yao, Lijing; Song, Lei; Lam, Hugo Y. K.; Drabek, Jiri; Vojta, Petr; Maestro, Roberta; Gasparotto, Daniela; Koks, Sulev; Reimann, Ene; Scherer, Andreas; Nordlund, Jessica; Liljedahl, Ulrika; Jensen, Roderick; Pirooznia, Mehdi; Li, Zhipan; Xiao, Chunlin; Sherry, Stephen T.; Kusko, Rebecca; Moos, Malcolm; Donaldson, Eric; Tezak, Zivana; Ning, Baitang; Tong, Weida; Li, Jing; Duerken-Hughes, Penelope; Catalanotti, Claudia; Maheshwari, Shamoni; Shuga, Joe; Liang, Winnie S.; Keats, Jonathan; Adkins, Jonathan; Tassone, Erica; Zismann, Victoria; McDaniel, Timothy; Trent, Jeffrey; Foox, Jonathan; Butler, Daniel; Mason, Christopher E.; Hong, Huixiao; Shi, Leming; Wang, Charles; Xiao, Wenming
  3. Nature biotechnology. 2021, Sep; 39(9): 1151-1160.
  1. 3.   SomaticCombiner: improving the performance of somatic variant calling based on evaluation tests and a consensus approach
  2. Wang,Mingyi; Luo,Wen; Jones,Kristine; Bian, Xiaopeng; Williams,Russell; Higson,Herbert; Wu,Dongjing; Hicks,Belynda; Yeager,Meredith; Zhu,Bin
  3. Scientific reports. 2020, Jul 30; 10(1): 12898.
  1. 4.   Comparative clinical and genomic analysis of neurofibromatosis type 2-associated cranial and spinal meningiomas
  2. Pemov, Alexander; Dewan, Ramita; Hansen, Nancy F; Chandrasekharappa, Settara C; Ray-Chaudhury, Abhik; Jones,Kristine; Luo,Wen; Heiss, John D; Mullikin, James C; Chittiboina, Prashant; Stewart, Douglas R; Asthagiri, Ashok R
  3. Scientific reports. 2020, Jul 28; 10(1): 12563.
  1. 5.   Comprehensive and Integrated Genomic Characterization of Adult Soft Tissue Sarcomas
  2. Lazar, Alexander J.; McLellan, Michael D.; Bailey, Matthew H.; Miller, Christopher A.; Appelbaum, Elizabeth L.; Cordes, Matthew G.; Fronick, Catrina C.; Fulton, Lucinda A.; Fulton, Robert S.; Mardis, Elaine R.; Schmidt, Heather K.; Wong, Winghing; Wilson, Richard K.; Yellapantula, Venkata; Radenbaugh, Amie J.; Hoadley, Katherine A.; Hayes, D. Neil; Parker, Joel S.; Wilkerson, Matthew D.; Auman, J. Todd; Balu, Saianand; Bodenheimer, Tom; Hoyle, Alan P.; Jefferys, Stuart R.; Jones, Corbin D.; Lehmann, Kjong-Van; Meng, Shaowu; Mieczkowski, Piotr A.; Mose, Lisle E.; Perou, Charles M.; Roach, Jeffrey; Senbabaoglu, Yasin; Shi, Yan; Simons, Janae V.; Skelly, Tara; Soloway, Matthew G.; Tan, Donghui; Veluvolu, Umadevi; Davis, Ian J.; Hepperla, Austin J.; Brohl, Andrew S.; Kasaian, Katayoon; Mungall, Karen; Sadeghi, Sara; Barthel, Floris P.; Verhaak, Roel; Hu, Xin; Chibon, Frederic; Cherniack, Andrew D.; Shih, Juliann; Beroukhim, Rameen; Meyerson, Matthew; Cibulskis, Carrie; Gabriel, Stacey B.; Saksena, Gordon; Schumacher, Steven E.; Bailey, Matthew H.; Gao, Qingsong; Wong, Winghing; Wyczalkowski, Matthew; Bowlby, Reanne; Robertson, A. Gordon; Ally, Adrian; Balasundaram, Miruna; Brooks, Denise; Carlsen, Rebecca; Chuah, Eric; Dhalla, Noreen; Holt, Robert A.; Jones, Steven J. M.; Lee, Darlene; Li, Irene; Ma, Yussanne; Marra, Marco A.; Mayo, Michael; Moore, Richard A.; Mungall, Andrew J.; Parker, Joel S.; Schein, Jacqueline E.; Sipahimalani, Payal; Tam, Angela; Thiessen, Nina; Wong, Tina; Danilova, Ludmila; Cope, Leslie; Baylin, Stephen B.; Bootwalla, Moiz S.; Lai, Phillip H.; Laird, Peter W.; Maglinte, Dennis T.; Van Den Berg, David J.; Weisenberger, Daniel J.; Wrangle, John; Drill, Esther; Shen, Ronglai; Iype, Lisa; Reynolds, Sheila M.; Shmulevich, Ilya; Yau, Christina; Armenia, Joshua; Liu, Eric Minwei; Benz, Christopher; Pastore, Alessandro; Sanchez-Vega, Francisco; Schultz, Nikolaus; Akbani, Rehan; Hegde, Apurva M.; Liu, Wenbin; Lu, Yiling; Mills, Gordon B.; Weinstein, John N.; Roszik, Jason; Anur, Pavana; Spellman, Paul; Abeshouse, Adam; Chen, Hsiao-Wei; Gao, Jianjiong; Heins, Zachary; Kundra, Ritika; Larsson, Erik; Ochoa, Angelica; Sanchez-Vega, Francisco; Sander, Chris; Schultz, Nikolaus; Socci, Nicholas; Zhang, Hongxin; Noble, Michael S.; Heiman, David I.; Kim, Jaegil; Chin, Lynda; Getz, Gad; Cho, Juok; Defreitas, Timothy; Frazer, Scott; Gehlenborg, Nils; Lawrence, Michael S.; Lin, Pei; Meier, Sam; Voet, Doug; Zhang, Hailei; Byers, Lauren; Diao, Lixia; Gay, Carl M.; Wang, Jing; Newton, Yulia; Cooper, Lee A. D.; Gutman, David A.; Lazar, Alexander J.; Lee, Sanghoon; Nalisnik, Michael; Bowen, Jay; Gastier-Foster, Julie M.; Gerken, Mark; Helsel, Carmen; Hobensack, Shital; Leraas, Kristen M.; Lichtenberg, Tara M.; Ramirez, Nilsa C.; Wise, Lisa; Zmuda, Erik; Anderson, Matthew L.; Castro, Patricia; Ittmann, Michael; Gordienko, Elena; Paklina, Oxana; Setdikova, Galiya; Raut, Chandrajit P.; Karlan, Beth Y.; Lester, Jenny; Belyaev, Dmitry; Fulidou, Victoria; Potapova, Olga; Voronina, Olga; Demetri, George D.; Ramalingam, Suresh S.; Behera, Madhusmita; Delman, Keith; Owonikoko, Taofeek K.; Sica, Gabriel L.; Boyd, Jeff; Magliocco, Anthony; Salner, Andrew; Bennett, Joesph; Iacocca, Mary; Swanson, Patricia; Dottino, Peter; Kalir, Tamara; Pereira, Elena; Akeredolu, Teniola; Crain, Daniel; Curley, Erin; Gardner, Johanna; Mallery, David; Morris, Scott; Paulauskis, Joseph; Penny, Robert; Shelton, Candace; Shelton, Troy; Thompson, Eric; Hoon, Dave B.; Parfitt, Jeremy; Birrer, Michael; Karseladze, Apollon; Mariamidze, Armaz; Dao, Fanny; Levine, Douglas A.; Olvera, Narciso; Maki, Robert G.; Bartlett, John; Eschbacher, Jennifer; Dubina, Michael; Mozgovoy, Evgeny; Fedosenko, Konstantin; Manikhas, Georgy; Sekhon, Harman; Ramirez, Nilsa; Lazar, Alexander J.; Ingram, Davis R.; Torres, Keila E.; DiSaia, Phil; Godwin, Andrew K.; Godwin, Eryn M.; Kuo, Hanluen; Madan, Rashna; Reilly, Colleen; Adebamowo, Clement; Adebamowo, Sally N.; Bocklage, Therese; Higgins, Kelly; Martinez, Cathleen; Auman, J. Todd; Boice, Lori; Grilley-Olson, Juneko E.; Huang, Mei; Perou, Amy H.; Thorne, Leigh B.; Rathmell, W. Kimryn; Gutmann, David H.; Singer, Samuel; Chudamani, Sudha; Liu, Jia; Lolla, Laxmi; Naresh, Rashi; Pihl, Todd; Sun, Qiang; Wan, Yunhu; Wu, Ye; Felau, Ina; Zenklusen, Jean C.; Demchok, John A.; Ferguson, Martin L.; Hutter, Carolyn M.; Sofia, Heidi J.; Tarnuzzer, Roy; Wang, Zhining; Yang, Liming; Zhang, Jiashan (Julia); Demicco, Elizabeth G.; Doyle, Leona A.; Hornick, Jason L.; Lazar, Alexander J.; Rubin, Brian P.; de Rijn, Matt van; Demetri, George D.; Baker, Laurence; Grilley-Olson, Juneko E.; Iype, Lisa; Lazar, Alexander J.; Lichtenberg, Tara M.; Raut, Chandrajit P.; Riedel, Richard F.; Demicco, Elizabeth G.; Ding, Li; Ladanyi, Marc; Lazar, Alexander J.; Novak, Janet E.; Sanchez-Vega, Francisco; Singer, Samuel; Van Tine, Brian A.; Byers, Lauren; Cope, Leslie; Cherniack, Andrew D.; Cooper, Lee A. D.; Davis, Ian J.; Davis, Lara E.; Demetri, George D.; Doyle, Leona A.; Drill, Esther; Godwin, Andrew K.; Grilley-Olsen, Juneko E.; Gutmann, David H.; Hayes, D. Neil; Hepperla, Austin J.; Hoadley, Katherine A.; Hoon, Dave B.; Hornick, Jason L.; Iype, Lisa; Kim, Jaegil; Maki, Robert G.; Pollock, Raphael E.; Raut, Chandrajit P.; Riedel, Richard F.; Robertson, A. Gordon; Rubin, Brian P.; Shih, Juliann; Weinstein, John N.; Wong, Winghing; Akbani, Rehan; Anderson, Matthew L.; Anur, Pavana; Bailey, Matthew H.; Benz, Christopher; Bowen, Jay; Bowlby, Reanne; Brohl, Andrew S.; Cherniack, Andrew D.; Cooper, Lee A. D.; Cope, Leslie; Danilova, Ludmila; Davis, Lara E.; Demetri, George D.; Gay, Carl M.; Godwin, Andrew K.; Grilley-Olson, Juneko E.; Gutman, David A.; Hegde, Apurva M.; Jones, Kevin B.; Kasaian, Katayoon; Ladanyi, Marc; Lazar, Alexander J.; Lee, Sanghoon; Leraas, Kristen M.; Lichtenberg, Tara M.; Martignetti, John A.; McLellan, Michael D.; Miller, Christopher A.; Mungall, Karen; Nalisnik, Michael; Noble, Michael S.; Raut, Chandrajit P.; Riedel, Richard F.; Robertson, A. Gordon; Roszik, Jason; Sadeghi, Sara; Sanchez-Vega, Francisco; Shen, Ronglai; Shih, Juliann; Tong, Pan; Torres, Keila E.; Yau, Christina; Zenklusen, Jean C.
  3. Cell. 2017, Nov 02; 171(4): 950-965.
  1. 6.   Hematologically important mutations: The autosomal recessive forms of chronic granulomatous disease (second update)
  2. Roos, D.; Kuhns, D. B.; Maddalena, A.; Bustamante, J.; Kannengiesser, C.; de Boer, M.; van Leeuwen, K.; Koker, M. Y.; Wolach, B.; Roesler, J.; Malech, H. L.; Holland, S. M.; Gallin, J. I.; Stasia, M. J.
  3. Blood Cells Molecules and Diseases. 2010, Apr; 44(4): 291-299.
  1. 7.   Potent antibody-mediated neutralization and evolution of antigenic escape variants of simian immunodeficiency virus strain SIVmac239 in vivo
  2. Sato, S.; Yuste, E.; Lauer, W. A.; Chang, E. H.; Morgan, J. S.; Bixby, J. G.; Lifson, J. D.; Desrosiers, R. C.; Johnson, W. E.
  3. Journal of Virology. 2008 82(19): 9739-9752.
  1. 8.   Variants of CCR5, which are permissive for HIV-1 infection, show distinct functional responses to CCL3, CCL4 and CCL5
  2. Dong, H. F.; Wigmore, K.; Carrington, M. N.; Dean, M.; Turpin, J. A.; Howard, O. M. Z.
  3. Genes and Immunity. 2005, OCT; 6(7): 609-619.
  1. 9.   The Ter mutation in the dead end gene causes germ cell loss and testicular germ cell tumours
  2. Youngren, K. K.; Coveney, D.; Peng, X. N.; Bhattacharya, C.; Schmidt, L. S.; Nickerson, M. L.; Lamb, B. T.; Deng, J. M.; Behringer, R. R.; Capel, B.; Rubin, E. M.; Nadeau, J. H.; Matin, A.
  3. Nature. 2005, MAY 19; 435(7040): 360-364.
  1. 10.   Mutational analysis of the DEAD-box RNA helicase eIF4AII characterizes its interaction with transformation suppressor Pdcd4 and eIF4GI
  2. Zakowicz, H.; Yang, H. S.; Stark, C.; Wlodawer, A.; Laronde-Leblanc, N.; Colburn, N. H.
  3. Rna-a Publication of the Rna Society. 2005, MAR; 11(3): 261-274.
  1. 11.   PKC delta plays opposite roles in growth mediated by wild-type Kit and an oncogenic Kit mutant
  2. Jelacic, T.; Linnekin, D.
  3. Blood. 2005, MAR 1; 105(5): 1923-1929.
  1. 12.   Simple and highly efficient BAC recombineering using gaIK selection
  2. Warming, S.; Costantino, N.; Court, D. L.; Jenkins, N. A.; Copeland, N. G.
  3. Nucleic Acids Research. 2005 33(4, Art. No. e36):
  1. 13.   Is allostery an intrinsic property of all dynamic proteins?
  2. Gunasekaran, K.; Ma, B. Y.; Nussinov, R.
  3. Proteins-Structure Function and Bioinformatics. 2004, NOV 15; 57(3): 433-443.
  1. 14.   CYP1A1 and GSTM1 polymorphisms in relation to lung cancer risk in Chinese women
  2. Yang, X. H. R.; Wacholder, S.; Xu, Z. Y.; Dean, M.; Clark, V.; Gold, B.; Brown, L. M.; Stone, B. J.; Fraumeni, J. F.; Caporaso, N. E.
  3. Cancer Letters. 2004, OCT 28; 214(2): 197-204.
  1. 15.   Real-time gap ligase chain reaction: A rapid semiquantitative assay for detecting p53 mutation at low levels in surgical margins and lymph nodes from resected lung and head and neck tumors
  2. Harden, S. V.; Thomas, D. C.; Benoit, N.; Minhas, K.; Westra, W. H.; Califano, J. A.; Koch, W.; Sidransky, D.
  3. Clinical Cancer Research. 2004 10(7): 2379-2385.
  1. 16.   Two essential splice lariat branchpoint sequences in one intron in a xeroderma pigmentosum DNA repair gene: mutations result in reduced XPC mRNA levels that correlate with cancer risk
  2. Khan, S. G.; Metin, A.; Gozukara, E.; Inui, H.; Shahlavi, T.; Muniz-Medina, V.; Baker, C. C.; Ueda, T.; Aiken, J. R.; Schneider, T. D.; Kraemer, K. H.
  3. Human Molecular Genetics. 2004 13(3): 343-352.
  1. 17.   A germ-line insertion in the Birt-Hogg-Dube (BHD) gene gives rise to the Nihon rat model of inherited renal cancer
  2. Okimoto, K.; Sakurai, J.; Kobayashi, T.; Mitani, H.; Hirayama, Y.; Nickerson, M. L.; Warren, M. B.; Zbar, B.; Schmidt, L. S.; Hino, O.
  3. Proceedings of the National Academy of Sciences of the United States of America. 2004 101(7): 2023-2027.
  1. 18.   In vivo recombineering of bacteriophage lambda by PCR fragments and single-strand oligonucleotides
  2. Oppenheim, A. B.; Rattray, A. J.; Bubunenko, M.; Thomason, L. C.; Court, D. L.
  3. Virology. 2004 319(2): 185-189.
  1. 20.   Phosphatidylinositol 3 '-kinase is required for growth of mast cells expressing the Kit catalytic domain mutant
  2. Shivakrupa, R.; Bernstein, A.; Watring, N.; Linnekin, D.
  3. Cancer Research. 2003 63(15): 4412-4419.
  1. 21.   Multiple interactions across the surface of the gp120 core structure determine the global neutralization resistance phenotype of human immunodeficiency virus type 1
  2. Bouma, P.; Leavitt, M.; Zhang, P. F.; Sidorov, I. A.; Dimitrov, D. S.; Quinnan, G. V.
  3. Journal of Virology. 2003 77(14): 8061-8071.
  1. 22.   Origin and utility of the reverse dot-blot
  2. Gold, B.
  3. Expert Review of Molecular Diagnostics. 2003 3(2): 143-152.
  1. 23.   Differences in electrostatic properties at antibody-antigen binding sites: Implications for specificity and cross- reactivity
  2. Sinha, N.; Mohan, S.; Lipschultz, C. A.; Smith-Gill, S. J.
  3. Biophysical Journal. 2002 83(6): 2946-2968.
  1. 24.   The gene for a variant form of the polyadenylation protein CstF-64 is on chromosome 19 and is expressed in pachytene spermatocytes in mice
  2. Dass, B.; McMahon, K. W.; Jenkins, N. A.; Gilbert, D. J.; Copeland, N. G.; MacDonald, C. C.
  3. Journal of Biological Chemistry. 2001 276(11): 8044-8050.
  1. 25.   Phosphatidylinositol 3 kinase contributes to the transformation of hematopoietic cells by the D816V c-Kit mutant
  2. Chian, R. J.; Young, S.; Danilkovitch-Miagkova, A.; Ronnstr, L.; Leonard, E.; Ferrao, P.; Ashman, L.; Linnekin, D.
  3. Blood. 2001 98(5): 1365-1373.
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