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  1. 1.   Frameshift mutation spectra overlap between constitutional mismatch repair deficiency tumors and Lynch syndrome tumors
  2. Song,Yurong; Baugher,Ryan; Young,Todd; Somerville,Brandon; Mori,Yuriko; Pinto,Ligia; Nichols, Kim E; Shoemaker, Robert H
  3. The Journal of Clinical Investigation. 2024, Oct 22;
  1. 2.   A novel pathogenic germline chromosome 3 inversion in von Hippel-Lindau disease
  2. Vocke, Cathy D; Ricketts, Christopher J; Pack, Svetlana; Raffeld, Mark; Hewitt, Stephen; Lebensohn, Alexandra P; O'Brien, Lidenys; Gautam, Rabindra; Reynolds, Krista; Schmidt,Laura; Choo, Kristin; Kenigsberg, Alex; Gurram, Sandeep; Chew, Emily Y; Nilubol, Naris; Chittaboina, Prashant; Merino, Maria J; Ball, Mark W; Linehan, W Marston
  3. Journal of Medical Genetics. 2024, Sep 24;
  1. 3.   Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
  2. Li, Dong; Wang, Qin; Bayat, Allan; Battig, Mark R; Zhou, Yijing; Bosch, Daniëlle Gm; van Haaften, Gijs; Granger, Leslie; Petersen, Andrea K; Pérez-Jurado, Luis A; Aznar-Laín, Gemma; Aneja, Anushree; Hancarova, Miroslava; Bendova, Sarka; Schwarz, Martin; Kremlíková Pourová, Radka; Sedlacek, Zdenek; Keena, Beth A; March, Michael E; Hou, Cuiping; O'Connor, Nora; Bhoj, Elizabeth J; Harr, Margaret H; Lemire, Gabrielle; Boycott, Kym M; Towne, Meghan C; Li, Megan; Tarnopolsky, Mark; Brady, Lauren; Parker, Michael J; Faghfoury, Hanna; Parsley, Lea Kristin; Agolini, Emanuele; Dentici, Maria Lisa; Novelli, Antonio; Wright, Meredith S; Palmquist, Rachel; Lai, Khanh; Scala, Marcello; Striano, Pasquale; Iacomino, Michele; Zara, Federico; Cooper, Annina; Maarup, Timothy J; Byler, Melissa; Lebel, Robert Roger; Balci, Tugce B; Louie, Raymond J; Lyons, Michael J; Douglas, Jessica; Nowak, Catherine B; Afenjar, Alexandra; Hoyer, Juliane; Keren, Boris; Maas, Saskia M; Motazacker, Mahdi M; Martinez-Agosto, Julian A; Rabani, Ahna M; McCormick, Elizabeth M; Falk, Marni; Ruggiero, Sarah M; Helbig, Ingo; Møller, Rikke S; Tessarollo,Lino; Tomassoni Ardori,Francesco; Palko,Mary Ellen; Hsieh, Tzung-Chien; Krawitz, Peter M; Ganapathi, Mythily; Gelb, Bruce D; Jobanputra, Vaidehi; Wilson, Ashley; Greally, John; Jacquemont, Sébastien; Jizi, Khadijé; Ange-Line, Bruel; Quelin, Chloé; Misra, Vinod K; Chick, Erika; Romano, Corrado; Greco, Donatella; Arena, Alessia; Morleo, Manuela; Nigro, Vincenzo; Seyama, Rie; Uchiyama, Yuri; Matsumoto, Naomichi; Taira, Ryoji; Tashiro, Katsuya; Sakai, Yasunari; Yigit, Gökhan; Wollnik, Bernd; Wagner, Michael; Kutsche, Barbara; Hurst, Anna Ce; Thompson, Michelle L; Schmidt, Ryan J; Randolph, Linda M; Spillmann, Rebecca C; Shashi, Vandana; Higginbotham, Edward J; Cordeiro, Dawn; Carnevale, Amanda; Costain, Gregory; Khan, Tayyaba; Funalot, Benoît; Tran Mau-Them, Frederic; Fernandez Garcia Moya, Luis; García-Miñaúr, Sixto; Osmond, Matthew; Chad, Lauren; Quercia, Nada; Carrasco, Diana; Li, Chumei; Sanchez-Valle, Amarilis; Kelley, Meghan; Nizon, Mathilde; Jensson, Brynjar O; Sulem, Patrick; Stefansson, Kari; Gorokhova, Svetlana; Busa, Tiffany; Rio, Marlène; Hadj Abdallah, Hamza; Lesieur-Sebellin, Marion; Amiel, Jeanne; Pingault, Véronique; Mercier, Sandra; Vincent, Marie; Philippe, Christophe; Fatus-Fauconnier, Clemence; Friend, Kathryn; Halligan, Rebecca K; Biswas, Sunita; Rosser, Jane Mr; Shoubridge, Cheryl; Corbett, Mark A; Barnett, Christopher; Gecz, Jozef; Leppig, Kathleen A; Slavotinek, Anne; Marcelis, Carlo; Pfundt, Rolph; de Vries, Bert Ba; van Slegtenhorst, Marjon A; Brooks, Alice S; Cogne, Benjamin; Rambaud, Thomas; Tümer, Zeynep; Zackai, Elaine H; Akizu, Naiara; Song, Yuanquan; Hakonarson, Hakon
  3. The Journal of clinical investigation. 2024, Jan 2; 134(1): e171235.
  1. 4.   A phase III randomized crossover trial of plerixafor versus G-CSF for treatment of WHIM syndrome
  2. McDermott, David H; Velez, Daniel; Cho, Elena; Cowen, Edward W; DiGiovanna, John J; Pastrana, Diana V; Buck, Christopher B; Calvo, Katherine R; Gardner, Pamela J; Rosenzweig, Sergio D; Stratton, Pamela; Merideth, Melissa A; Kim, H Jeffrey; Brewer, Carmen; Katz, James D; Kuhns,Doug; Malech, Harry L; Follmann, Dean; Fay, Michael P; Murphy, Philip M
  3. The Journal of Clinical Investigation. 2023, Oct 2; 133(19): e164918.
  1. 5.   Origin and utility of the reverse dot-blot
  2. Gold, B.
  3. Expert Review of Molecular Diagnostics. 2003 3(2): 143-152.
  1. 6.   The human ATP-binding cassette (ABC) transporter superfamily
  2. Dean, M.; Hamon, Y.; Chimini, G.
  3. Journal of Lipid Research. 2001 42(7): 1007-1017.
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