Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.
Human Genetics
Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ
Publication Date: 2023-04-22
Variant appearance in text: KMT2D: 2438C>T; Pro813Leu
A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.
Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER
Plasma Concentrations and Cancer-Associated Mutations in Cell-Free Circulating DNA of Treatment-Naive Follicular Lymphoma for Improved Non-Invasive Diagnosis and Prognosis.
Frontiers In Oncology
Hatipoğlu, Tevfik T; Esmeray Sönmez, Esra E; Hu, Xiaozhou X; Yuan, Hongling H; Danyeli, Ayça Erşen AE; Şeyhanlı, Ahmet A; Önal-Süzek, Tuğba T; Zhang, Weiwei W; Akman, Burcu B; Olgun, Aybüke A; Özkal, Sermin S; Alacacıoğlu, İnci İ; Özcan, Mehmet Ali MA; You, Hua H; Küçük, Can C
Detection of disease-causing mutations in prostate cancer by NGS sequencing.
Cell Biology International
Mangolini, Alessandra A; Rocca, Christian C; Bassi, Cristian C; Ippolito, Carmelo C; Negrini, Massimo M; Dell'Atti, Lucio L; Lanza, Giovanni G; Gafà, Roberta R; Bianchi, Nicoletta N; Pinton, Paolo P; Aguiari, Gianluca G
A bladder cancer patient-derived xenograft displays aggressive growth dynamics in vivo and in organoid culture.
Scientific Reports
Cai, Elise Y EY; Garcia, Jose J; Liu, Yuzhen Y; Vakar-Lopez, Funda F; Arora, Sonali S; Nguyen, Holly M HM; Lakely, Bryce B; Brown, Lisha L; Wong, Alicia A; Montgomery, Bruce B; Lee, John K JK; Corey, Eva E; Wright, Jonathan L JL; Hsieh, Andrew C AC; Lam, Hung-Ming HM
Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.
Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09
Variant appearance in text: KMT2D: P813L; rs75226229
Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.
Acta Neuropathologica Communications
Jungwirth, Gerhard G; Warta, Rolf R; Beynon, Christopher C; Sahm, Felix F; von Deimling, Andreas A; Unterberg, Andreas A; Herold-Mende, Christel C; Jungk, Christine C
Publication Date: 2019-08-30
Variant appearance in text: KMT2D: P813L; rs75226229
Biochemical And Biophysical Research Communications
Mondal, Abdul M AM; Ma, Ai-Hong AH; Li, Guangzhao G; Krawczyk, Ewa E; Yuan, Ruan R; Lu, Jie J; Schlegel, Richard R; Stamatakis, Lambros L; Kowalczyk, Keith J KJ; Philips, George K GK; Pan, Chong-Xian CX; Liu, Xuefeng X
Chromatin dysregulation and DNA methylation at transcription start sites associated with transcriptional repression in cancers.
Nature Communications
Ando, Mizuo M; Saito, Yuki Y; Xu, Guorong G; Bui, Nam Q NQ; Medetgul-Ernar, Kate K; Pu, Minya M; Fisch, Kathleen K; Ren, Shuling S; Sakai, Akihiro A; Fukusumi, Takahito T; Liu, Chao C; Haft, Sunny S; Pang, John J; Mark, Adam A; Gaykalova, Daria A DA; Guo, Theresa T; Favorov, Alexander V AV; Yegnasubramanian, Srinivasan S; Fertig, Elana J EJ; Ha, Patrick P; Tamayo, Pablo P; Yamasoba, Tatsuya T; Ideker, Trey T; Messer, Karen K; Califano, Joseph A JA
Identification of KIF11 As a Novel Target in Meningioma.
Cancers
Jungwirth, Gerhard G; Yu, Tao T; Moustafa, Mahmoud M; Rapp, Carmen C; Warta, Rolf R; Jungk, Christine C; Sahm, Felix F; Dettling, Steffen S; Zweckberger, Klaus K; Lamszus, Katrin K; Senft, Christian C; Loehr, Mario M; Keßler, Almuth F AF; Ketter, Ralf R; Westphal, Manfred M; Debus, Juergen J; von Deimling, Andreas A; Simon, Matthias M; Unterberg, Andreas A; Abdollahi, Amir A; Herold-Mende, Christel C
A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.
Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Identification of 613 new loci associated with heel bone mineral density and a polygenic risk score for bone mineral density, osteoporosis and fracture.
Plos One
Kim, Stuart K SK
Publication Date: 2018
Variant appearance in text: KMT2D: P813L; rs75226229
Development of a targeted sequencing approach to identify prognostic, predictive and diagnostic markers in paediatric solid tumours.
Oncotarget
Izquierdo, Elisa E; Yuan, Lina L; George, Sally S; Hubank, Michael M; Jones, Chris C; Proszek, Paula P; Shipley, Janet J; Gatz, Susanne A SA; Stinson, Caedyn C; Moore, Andrew S AS; Clifford, Steven C SC; Hicks, Debbie D; Lindsey, Janet C JC; Hill, Rebecca M RM; Jacques, Thomas S TS; Chalker, Jane J; Thway, Khin K; O'Connor, Simon S; Marshall, Lynley L; Moreno, Lucas L; Pearson, Andrew A; Chesler, Louis L; Walker, Brian A BA; De Castro, David Gonzalez DG
Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.
Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Development and Characterization of Bladder Cancer Patient-Derived Xenografts for Molecularly Guided Targeted Therapy.
Plos One
Pan, Chong-Xian CX; Zhang, Hongyong H; Tepper, Clifford G CG; Lin, Tzu-yin TY; Davis, Ryan R RR; Keck, James J; Ghosh, Paramita M PM; Gill, Parkash P; Airhart, Susan S; Bult, Carol C; Gandara, David R DR; Liu, Edison E; de Vere White, Ralph W RW
Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.
Acta Neuropathologica Communications
Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP
Whole-genome sequencing of the world's oldest people.
Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.
Plos One
Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE