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: 12913G>A; Val4305Ile
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
Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23
Variant appearance in text: KMT2D: 12913G>A; Val4305Ile
Amplification of CDK4 and MDM2: a detailed study of a high-risk neuroblastoma subgroup.
Scientific Reports
Martinez-Monleon, Angela A; Kryh Öberg, Hanna H; Gaarder, Jennie J; Berbegall, Ana P AP; Javanmardi, Niloufar N; Djos, Anna A; Ussowicz, Marek M; Taschner-Mandl, Sabine S; Ambros, Inge M IM; Øra, Ingrid I; Sandstedt, Bengt B; Beiske, Klaus K; Ladenstein, Ruth R; Noguera, Rosa R; Ambros, Peter F PF; Gordon Murkes, Lena L; Ljungman, Gustaf G; Kogner, Per P; Fransson, Susanne S; Martinsson, Tommy T
Publication Date: 2022-07-20
Variant appearance in text: KMT2D: 12913G>A; V4305I
Genomic and evolutionary portraits of disease relapse in acute myeloid leukemia.
Leukemia
Rapaport, Franck F; Neelamraju, Yaseswini Y; Baslan, Timour T; Hassane, Duane D; Gruszczynska, Agata A; Robert de Massy, Marc M; Farnoud, Noushin N; Haddox, Samuel S; Lee, Tak T; Medina-Martinez, Juan J; Sheridan, Caroline C; Thurmond, Alexis A; Becker, Michael M; Bekiranov, Stefan S; Carroll, Martin M; Moses Murdock, Heardly H; Valk, Peter J M PJM; Bullinger, Lars L; D'Andrea, Richard R; Lowe, Scott W SW; Neuberg, Donna D; Levine, Ross L RL; Melnick, Ari A; Garrett-Bakelman, Francine E FE
Genetic and transcriptional evolution alters cancer cell line drug response.
Nature
Ben-David, Uri U; Siranosian, Benjamin B; Ha, Gavin G; Tang, Helen H; Oren, Yaara Y; Hinohara, Kunihiko K; Strathdee, Craig A CA; Dempster, Joshua J; Lyons, Nicholas J NJ; Burns, Robert R; Nag, Anwesha A; Kugener, Guillaume G; Cimini, Beth B; Tsvetkov, Peter P; Maruvka, Yosef E YE; O'Rourke, Ryan R; Garrity, Anthony A; Tubelli, Andrew A AA; Bandopadhayay, Pratiti P; Tsherniak, Aviad A; Vazquez, Francisca F; Wong, Bang B; Birger, Chet C; Ghandi, Mahmoud M; Thorner, Aaron R AR; Bittker, Joshua A JA; Meyerson, Matthew M; Getz, Gad G; Beroukhim, Rameen R; Golub, Todd R TR
Publication Date: 2018-08
Variant appearance in text: KMT2D: 12913G>A; V4305I; rs199895011
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