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: TRIOBP: 2402T>C; Leu801Pro
Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.
Nature Communications
Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL
Germline variants of ATG7 in familial cholangiocarcinoma alter autophagy and p62.
Scientific Reports
Greer, Stephanie U SU; Chen, Jiamin J; Ogmundsdottir, Margret H MH; Ayala, Carlos C; Lau, Billy T BT; Delacruz, Richard Glenn C RGC; Sandoval, Imelda T IT; Kristjansdottir, Sigrun S; Jones, David A DA; Haslem, Derrick S DS; Romero, Robin R; Fulde, Gail G; Bell, John M JM; Jonasson, Jon G JG; Steingrimsson, Eirikur E; Ji, Hanlee P HP; Nadauld, Lincoln D LD
Construction and validation of an immunoediting-based optimized neoantigen load (ioTNL) model to predict the response and prognosis of immune checkpoint therapy in various cancers.
Neoadjuvant PD-1 Blockade Combined With Chemotherapy Followed by Concurrent Immunoradiotherapy in Locally Advanced Anal Canal Squamous Cell Carcinoma Patients: Antitumor Efficacy, Safety and Biomarker Analysis.
Frontiers In Immunology
Xiao, WeiWei W; Yuan, Yan Y; Wang, SuiHai S; Liao, Zhidong Z; Cai, PeiQiang P; Chen, BaoQing B; Zhang, Rong R; Wang, Fang F; Zeng, ZhiFan Z; Gao, YuanHong Y
Systematic genomic and translational efficiency studies of uveal melanoma.
Plos One
Johnson, Chelsea Place CP; Kim, Ivana K IK; Esmaeli, Bita B; Amin-Mansour, Ali A; Treacy, Daniel J DJ; Carter, Scott L SL; Hodis, Eran E; Wagle, Nikhil N; Seepo, Sara S; Yu, Xiaoxing X; Lane, Anne Marie AM; Gragoudas, Evangelos S ES; Vazquez, Francisca F; Nickerson, Elizabeth E; Cibulskis, Kristian K; McKenna, Aaron A; Gabriel, Stacey B SB; Getz, Gad G; Van Allen, Eliezer M EM; 't Hoen, Peter A C PAC; Garraway, Levi A LA; Woodman, Scott E SE
Publication Date: 2017
Variant appearance in text: TRIOBP: 2402T>C; L801P