Novel SOX17 frameshift mutations in endometrial cancer are functionally distinct from recurrent missense mutations von Walker, Christopher J, O'Hern, Matthew J, Serna, Vanida A, Kurita, Takeshi, Miranda, Mario A, Sapp, Caroline E, Mutch, David G, Cohn, David E, Goodfellow, Paul J

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MonoSeq Variant Caller Reveals Novel Mononucleotide Run Indel Mutations in Tumors with Defective DNA Mismatch Repair von Walker, Christopher J., Miranda, Mario A., O'Hern, Matthew J., Blachly, James S., Moyer, Cassandra L., Ivanovich, Jennifer, Kroll, Karl W., Eisfeld, Ann-Kathrin, Sapp, Caroline E., Mutch, David G., Cohn, David E., Bundschuh, Ralf, Goodfellow, Paul J

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Abstract 3335: Characterizing the MAXH28R secretome in endometrial cancer von Rush, Craig M., Gardner, Miranda L., Sapp, Caroline E., Freitas, Michael A., Goodfellow, Paul J.

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Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways von Cirulli, Elizabeth T., Lasseigne, Brittany N., Petrovski, Slavé, Sapp, Peter C., Dion, Patrick A., Leblond, Claire S., Couthouis, Julien, Lu, Yi-Fan, Wang, Quanli, Krueger, Brian J., Ren, Zhong, Keebler, Jonathan, Han, Yujun, Levy, Shawn E., Boone, Braden E., Wimbish, Jack R., Waite, Lindsay L., Jones, Angela L., Carulli, John P., Day-Williams, Aaron G., Staropoli, John F., Xin, Winnie W., Chesi, Alessandra, Raphael, Alya R., McKenna-Yasek, Diane, Cady, Janet, de Jong, J. M. B. Vianney, Kenna, Kevin P., Smith, Bradley N., Topp, Simon, Miller, Jack, Gkazi, Athina, Al-Chalabi, Ammar, van den Berg, Leonard H., Veldink, Jan, Silani, Vincenzo, Ticozzi, Nicola, Shaw, Christopher E., Baloh, Robert H., Appel, Stanley, Simpson, Ericka, Lagier-Tourenne, Clotilde, Pulst, Stefan M., Gibson, Summer, Trojanowski, John Q., Elman, Lauren, McCluskey, Leo, Grossman, Murray, Shneider, Neil A., Chung, Wendy K., Ravits, John M., Glass, Jonathan D., Sims, Katherine B., Van Deerlin, Vivianna M., Maniatis, Tom, Hayes, Sebastian D., Ordureau, Alban, Swarup, Sharan, Landers, John, Baas, Frank, Allen, Andrew S., Bedlack, Richard S., Harper, J. Wade, Gitler, Aaron D., Rouleau, Guy A., Brown, Robert, Harms, Matthew B., Cooper, Gregory M., Harris, Tim, Myers, Richard M., Goldstein, David B.

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Novel mutations support a role for Profilin 1 in the pathogenesis of ALS von Smith, Bradley N, Vance, Caroline, Scotter, Emma L, Troakes, Claire, Wong, Chun Hao, Topp, Simon, Maekawa, Satomi, King, Andrew, Mitchell, Jacqueline C, Lund, Karan, Al-Chalabi, Ammar, Ticozzi, Nicola, Silani, Vincenzo, Sapp, Peter, Brown, Robert H, Landers, John E, Al-Sarraj, Safa, Shaw, Christopher E

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Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy von Al-Olabi, Lara, Polubothu, Satyamaanasa, Dowsett, Katherine, Andrews, Katrina A, Stadnik, Paulina, Joseph, Agnel P, Knox, Rachel, Pittman, Alan, Clark, Graeme, Baird, William, Bulstrode, Neil, Glover, Mary, Gordon, Kristiana, Hargrave, Darren, Huson, Susan M, Jacques, Thomas S, James, Gregory, Kondolf, Hannah, Kangesu, Loshan, Keppler-Noreuil, Kim M, Khan, Amjad, Lindhurst, Marjorie J, Lipson, Mark, Mansour, Sahar, O'Hara, Justine, Mahon, Caroline, Mosica, Anda, Moss, Celia, Murthy, Aditi, Ong, Juling, Parker, Victoria E, Rivière, Jean-Baptiste, Sapp, Julie C, Sebire, Neil J, Shah, Rahul, Sivakumar, Branavan, Thomas, Anna, Virasami, Alex, Waelchli, Regula, Zeng, Zhiqiang, Biesecker, Leslie G, Barnacle, Alex, Topf, Maya, Semple, Robert K, Patton, E Elizabeth, Kinsler, Veronica A

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Enzymatic cleavage of uracil-containing single-stranded DNA linkers for the efficient release of affinity-selected circulating tumor cells von Nair, Soumya V, Witek, Małgorzata A, Jackson, Joshua M, Lindell, Maria A M, Hunsucker, Sally A, Sapp, Travis, Perry, Caroline E, Hupert, Mateusz L, Bae-Jump, Victoria, Gehrig, Paola A, Wysham, Weiya Z, Armistead, Paul M, Voorhees, Peter, Soper, Steven A

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Identification of a Novel microRNA Profile in Pediatric Cancer Patients Following Anthracycline Chemotherapy von Oatmen, Kelsie E., Toro-Salazar, Olga H., Zellars, Kia N., Mason, Kathryn C., Sapp, Ashley A., Hor, Kan, Gillan, Eileen, Zeiss, Caroline J., Gatti, Daniel M., Davey, Brooke T., Liang, Bruce T., Spinale, Francis G.

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Enzymatic cleavage of uracil-containing single-stranded DNA linkers for the efficient release of affinity-selected circulating tumor cellsElectronic supplementary information (ESI)... von Nair, Soumya V, Witek, Ma gorzata A, Jackson, Joshua M, Lindell, Maria A. M, Hunsucker, Sally A, Sapp, Travis, Perry, Caroline E, Hupert, Mateusz L, Bae-Jump, Victoria, Gehrig, Paola A, Wysham, Weiya Z, Armistead, Paul M, Voorhees, Peter, Soper, Steven A

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NEK1 variants confer susceptibility to amyotrophic lateral sclerosis von Kenna, Kevin P, van Doormaal, Perry T.C, Dekker, Annelot M, Ticozzi, Nicola, Kenna, Brendan J, Diekstra, Frank P, van Rheenen, Wouter, van Eijk, Kristel R, Jones, Ashley R, Keagle, Pamela, Shatunov, Aleksey, Sproviero, William, Smith, Bradley N, van Es, Michael A, Topp, Simon D, Kenna, Aoife, Miller, Jack W, Fallini, Claudia, Tiloca, Cinzia, McLaughlin, Russell L, Vance, Caroline, Troakes, Claire, Colombrita, Claudia, Mora, Gabriele, Calvo, Andrea, Verde, Federico, Al-Sarraj, Safa, King, Andrew, Calini, Daniela, de Belleroche, Jacqueline, Baas, Frank, van der Kooi, Anneke J, de Visser, Marianne, Ten Asbroek, Anneloor L.M.A, Sapp, Peter C, McKenna-Yasek, Diane, Polak, Meraida, Asress, Seneshaw, Muñoz-Blanco, José Luis, Strom, Tim M, Meitinger, Thomas, Morrison, Karen E, Lauria, Giuseppe, Williams, Kelly L, Leigh, P. Nigel, Nicholson, Garth A, Blair, Ian P, Leblond, Claire S, Dion, Patrick A, Rouleau, Guy A, Pall, Hardev, Shaw, Pamela J, Turner, Martin R, Talbot, Kevin, Taroni, Franco, Boylan, Kevin B, Van Blitterswijk, Marka, Rademakers, Rosa, Esteban-Pérez, Jesús, García-Redondo, Alberto, Van Damme, Philip, Robberecht, Wim, Chio, Adriano, Gellera, Cinzia, Drepper, Carsten, Sendtner, Michael, Ratti, Antonia, Glass, Jonathan D, Mora, Jesús S, Basak, Nazli A, Hardiman, Orla, Ludolph, Albert C, Andersen, Peter M, Weishaupt, Jochen H, Brown, Robert H, Al-Chalabi, Ammar, Silani, Vincenzo, Shaw, Christopher E, van den Berg, Leonard H, Veldink, Jan H, Landers, John E

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50bp deletion in the promoter for superoxide dismutase 1 (SOD1) reduces SOD1 expression in vitro and may correlate with increased age of onset of sporadic amyotrophic lateral scler... von Broom, Wendy J., Greenway, Matthew, Sadri-Vakili, Ghazaleh, Russ, Carsten, Auwarter, Kristen E., Glajch, Kelly E., Dupre, Nicolas, Swingler, Robert J., Purcell, Shaun, Hayward, Caroline, Sapp, Peter C., McKenna-Yasek, Diane, Valdmanis, Paul N., Bouchard, Jean-Pierre, Meininger, Vincent, Hosler, Betsy A., Glass, Jonathan D., Polack, Meraida, Rouleau, Guy A., Cha, Jang-Ho J., Hardiman, Orla, Brown, Robert H.

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cDNA cloning, in vitro expression, and biochemical characterization of cholinesterase 1 and cholinesterase 2 from amphioxus--comparison with cholinesterase 1 and cholinesterase 2 p... von McClellan, J S, Coblentz, W B, Sapp, M, Rulewicz, G, Gaines, D I, Hawkins, A, Ozment, C, Bearden, A, Merritt, S, Cunningham, J, Palmer, E, Contractor, A, Pezzementi, L

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