Identification of a Synthetic Lethal Relationship between Nucleotide Excision Repair Deficiency and Irofulven Sensitivity in Urothelial Cancer von Borcsok, Judit, Sztupinszki, Zsofia, Bekele, Raie, Gao, Sizhi P., Diossy, Miklos, Samant, Amruta S., Dillon, Kasia M., Tisza, Viktoria, Spisak, Sandor, Rusz, Orsolya, Csabai, Istvan, Pappot, Helle, Frazier, Zoe J., Konieczkowski, David J., Liu, David, Vasani, Naresh, Rodrigues, James A., Solit, David B., Hoffman-Censits, Jean H., Plimack, Elizabeth R., Rosenberg, Jonathan E., Lazaro, Jean-Bernard, Taplin, Mary-Ellen, Iyer, Gopa, Brunak, Soren, Lozsa, Rita, Van Allen, Eliezer M., Szuts, David, Mouw, Kent W., Szallasi, Zoltan

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ERCC2 Helicase Domain Mutations Confer Nucleotide Excision Repair Deficiency and Drive Cisplatin Sensitivity in Muscle-Invasive Bladder Cancer von Li, Qiang, Damish, Alexis W, Frazier, Zoë, Liu, David, Reznichenko, Elizaveta, Kamburov, Atanas, Bell, Andrew, Zhao, Huiyong, Jordan, Emmet J, Gao, S Paul, Ma, Jennifer, Abbosh, Philip H, Bellmunt, Joaquim, Plimack, Elizabeth R, Lazaro, Jean-Bernard, Solit, David B, Bajorin, Dean, Rosenberg, Jonathan E, D'Andrea, Alan D, Riaz, Nadeem, Van Allen, Eliezer M, Iyer, Gopa, Mouw, Kent W

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EZH2 has a non-catalytic and PRC2-independent role in stabilizing DDB2 to promote nucleotide excision repair von Koyen, Allyson E., Madden, Matthew Z., Park, Dongkyoo, Minten, Elizabeth V., Kapoor-Vazirani, Priya, Werner, Erica, Pfister, Neil T., Haji-Seyed-Javadi, Ramona, Zhang, Hui, Xu, Jie, Deng, Nikita, Duong, Duc M., Pecen, Turner J., Frazier, Zoë, Nagel, Zachary D., Lazaro, Jean-Bernard, Mouw, Kent W., Seyfried, Nicholas T., Moreno, Carlos S., Owonikoko, Taofeek K., Deng, Xingming, Yu, David S.

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CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology von Oppermann, Henry, Marcos-Grañeda, Elia, Weiss, Linnea A, Gurnett, Christina A, Jelsig, Anne Marie, Vineke, Susanne H, Isidor, Bertrand, Mercier, Sandra, Magnussen, Kari, Zacher, Pia, Hashim, Mona, Pagnamenta, Alistair T, Race, Simone, Srivastava, Siddharth, Frazier, Zoë, Maiwald, Robert, Pergande, Matthias, Milani, Donatella, Rinelli, Martina, Levy, Jonathan, Krey, Ilona, Fontana, Paolo, Lonardo, Fortunato, Riley, Stephanie, Kretzer, Jasmine, Rankin, Julia, Reis, Linda M, Semina, Elena V, Reuter, Miriam S, Scherer, Stephen W, Iascone, Maria, Weis, Denisa, Fagerberg, Christina R, Brasch-Andersen, Charlotte, Hansen, Lars Kjaersgaard, Kuechler, Alma, Noble, Nathan, Gardham, Alice, Tenney, Jessica, Rathore, Geetanjali, Beck-Woedl, Stefanie, Haack, Tobias B, Pavlidou, Despoina C, Atallah, Isis, Vodopiutz, Julia, Janecke, Andreas R, Hsieh, Tzung-Chien, Lesmann, Hellen, Klinkhammer, Hannah, Krawitz, Peter M, Lemke, Johannes R, Jamra, Rami Abou, Nieto, Marta, Tümer, Zeynep, Platzer, Konrad

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Clinical utility of a genetic diagnosis in individuals with cerebral palsy and related motor disorders von Santana Almansa, Alexandra, Gable, Dustin L., Frazier, Zoë, Sveden, Abigail, Quinlan, Aisling, Chopra, Maya, Lewis, Sara A., Kruer, Michael, Poduri, Annapurna, Srivastava, Siddharth

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Deletions in the CDKL5 5' untranslated region lead to CDKL5 deficiency disorder von Haviland, Isabel, Hector, Ralph D, Swanson, Lindsay C, Verran, Aubrie Soucy, Sherrill, Emma, Frazier, Zoë, Denny, AnneMarie M, Lucash, Jenna, Zhang, Bo, Dubbs, Holly A, Marsh, Eric D, Weisenberg, Judith L, Leonard, Helen, Crippa, Milena, Cogliati, Francesca, Russo, Silvia, Suter, Bernhard, Rajaraman, Rajsekar, Percy, Alan K, Schreiber, John M, Demarest, Scott, Benke, Timothy A, Chopra, Maya, Yu, Timothy W, Olson, Heather E

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Functional profiling of nucleotide Excision repair in breast cancer von Rajkumar-Calkins, Anne S., Szalat, Raphael, Dreze, Matija, Khan, Iman, Frazier, Zoë, Reznichenkov, Elizaveta, Schnorenberg, Mathew R., Tsai, Yi-Fang, Nguyen, Huy, Kochupurakkal, Bose, D’Andrea, Alan D, Shapiro, Geoffrey I, Lazaro, Jean-Bernard, Mouw, Kent W

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Toward representative genomic research: the children’s rare disease cohorts experience von Frazier, Zoë J., Brown, Eurnestine, Rockowitz, Shira, Lee, Ted, Zhang, Bo, Sveden, Abigail, Chamberlin, Nancy L., Dies, Kira A., Poduri, Annapurna, Sliz, Piotr, Chopra, Maya

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Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome von Rots, Dmitrijs, Bouman, Arianne, Yamada, Ayumi, Levy, Michael, Dingemans, Alexander J M, de Vries, Bert B A, Ruiterkamp-Versteeg, Martina, de Leeuw, Nicole, Ockeloen, Charlotte W, Pfundt, Rolph, de Boer, Elke, Kummeling, Joost, van Bon, Bregje, van Bokhoven, Hans, Kasri, Nael Nadif, Venselaar, Hanka, Alders, Marielle, Kerkhof, Jennifer, McConkey, Haley, Kuechler, Alma, Elffers, Bart, van Beeck Calkoen, Rixje, Hofman, Susanna, Valenzuela, Maria Irene, Srivastava, Siddharth, Frazier, Zoe, Maystadt, Isabelle, Piscopo, Carmelo, Merla, Giuseppe, Balasubramanian, Meena, Santen, Gijs W E, Metcalfe, Kay, Park, Soo-Mi, Pasquier, Laurent, Banka, Siddharth, Donnai, Dian, Weisberg, Daniel, Strobl-Wildemann, Gertrud, Wagemans, Annemieke, Vreeburg, Maaike, Baralle, Diana, Foulds, Nicola, Scurr, Ingrid, Brunetti-Pierri, Nicola, van Hagen, Johanna M, Bijlsma, Emilia K, Hakonen, Anna H, Courage, Carolina, Genevieve, David, Pinson, Lucile, Forzano, Francesca, Deshpande, Charu, Kluskens, Maria L, Welling, Lindsey, Plomp, Astrid S, Vanhoutte, Els K, Kalsner, Louisa, Hol, Janna A, Putoux, Audrey, Lazier, Johanna, Vasudevan, Pradeep, Ames, Elizabeth, O'Shea, Jessica, Lederer, Damien, Fleischer, Julie, Pauly, Melissa, Vasileiou, Georgia, Reis, André, Kiraly-Borri, Catherine, Bouman, Arjan, Barnett, Chris, Nezarati, Marjan, Borch, Lauren, Beunders, Gea, Özcan, Kübra, Miot, Stéphanie, Volker-Touw, Catharina M L, van Gassen, Koen L I, Cappuccio, Gerarda, Janssens, Katrien, Mor, Nofar, Shomer, Inna, Dominissini, Dan, Tedder, Matthew L, Sadikovic, Bekim, Brunner, Han G, Vissers, Lisenka E L M, Shinkai, Yoichi, Kleefstra, Tjitske

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Abstract PR18: Somatic ERCC2 mutations, nucleotide excision repair (NER) function, and cisplatin response in muscle-invasive bladder cancer (MIBC) von Mouw, Kent, Lazaro, Jean-Bernard, Damish, Alexis, Reznichenko, Elizaveta, Frazier, Zoe, Liu, David, Kim, Jaegil, Polak, Paz, Garraway, Levi, Getz, Gad, Rosenberg, Jonathan, Allen, Eliezer Van, D'Andrea, Alan

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Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals von Morison, Lottie D, Kennis, Milou GP, Rots, Dmitrijs, Bouman, Arianne, Kummeling, Joost, Palmer, Elizabeth, Vogel, Adam P, Liegeois, Frederique, Brignell, Amanda, Srivastava, Siddharth, Frazier, Zoe, Milnes, Di, Goel, Himanshu, Amor, David J, Scheffer, Ingrid E, Kleefstra, Tjitske, Morgan, Angela T

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Selective and cross-reactive SARS-CoV-2 T cell epitopes in unexposed humans von Mateus, Jose, Grifoni, Alba, Tarke, Alison, Sidney, John, Ramirez, Sydney, Dan, Jennifer M., Burger, Zoe C., Rawlings, Stephen A., Smith, Davey M., Phillips, Elizabeth, Mallal, Simon, Lammers, Marshall, Rubiro, Paul, Quiambao, Lorenzo, Sutherland, Aaron, Yu, Esther Dawen, Antunes, Ricardo da Silva, Greenbaum, Jason, Frazier, April, Markmann, Alena J., Premkumar, Lakshmanane, de Silva, Aravinda, Peters, Bjoern, Crotty, Shane, Sette, Alessandro, Weiskopf, Daniela

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Revealing pathways of ribosome assembly and viral RNA processing with time-resolved fluorescence von LeBlanc, Sharonda, Rolband, Lewis Alex, Gordon, Kenya, Clark, Ben, Castaneda, Jose, Silvernail, Irene, Morgan, Andi, Smruti, Patil, Frazier, Meredith, Wright, Zoe, Wilson, Isha, Stanley, Robin Evans

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Single institution experience with telemedicine for pediatric urology outpatient visits: Adapting to COVID-19 restrictions, patient satisfaction, and future utilization von Gan, Zoe, Lee, Seo Young, Weiss, Dana A., Van Batavia, Jason, Siu, Sharmayne, Frazier, Jennifer, Zderic, Stephen A., Shukla, Aseem R., Srinivasan, Arun K., Kolon, Thomas F., Zaontz, Mark R., Canning, Douglas A., Long, Christopher J.

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COVID-19 Pandemic Experiences and Symptoms of Pandemic-Associated Traumatic Stress Among Mothers in the US von Bastain, Theresa M, Knapp, Emily A, Law, Andrew, Algermissen, Molly, Avalos, Lyndsay A, Birnhak, Zoe, Blackwell, Courtney, Breton, Carrie V, Duarte, Cristiane, Frazier, Jean, Ganiban, Jody, Greenwood, Paige, Herbstman, Julie, Hernandez-Castro, Ixel, Hofheimer, Julie, Karagas, Margaret R, Lewis, Johnnye, Pagliaccio, David, Ramphal, Bruce, Saxbe, Darby, Schmidt, Rebecca, Velez-Vega, Carmen, Tang, Xiaodan, Hamra, Ghassan B, Margolis, Amy

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