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
Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.
Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.
Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Publication Date: 2021-01-08
Variant appearance in text: RAPSN: 1143T>C; P381P; rs7126210
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: RAPSN: P381P; rs7126210
Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S
A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.
Global genetic differentiation of complex traits shaped by natural selection in humans.
Nature Communications
Guo, Jing J; Wu, Yang Y; Zhu, Zhihong Z; Zheng, Zhili Z; Trzaskowski, Maciej M; Zeng, Jian J; Robinson, Matthew R MR; Visscher, Peter M PM; Yang, Jian J
Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes.
Scientific Reports
Pengelly, Reuben J RJ; Arias, Liliana L; Martínez, Julio J; Upstill-Goddard, Rosanna R; Seaby, Eleanor G EG; Gibson, Jane J; Ennis, Sarah S; Collins, Andrew A; Briceño, Ignacio I
Publication Date: 2016-07-26
Variant appearance in text: RAPSN: P381P; rs7126210
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
Publication Date: 2015-12-08
Variant appearance in text: RAPSN: P381P; rs7126210
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
Publication Date: 2014
Variant appearance in text: RAPSN: P381P; rs7126210
Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma.
Nature Genetics
Hysi, Pirro G PG; Cheng, Ching-Yu CY; Springelkamp, Henriët H; Macgregor, Stuart S; Bailey, Jessica N Cooke JNC; Wojciechowski, Robert R; Vitart, Veronique V; Nag, Abhishek A; Hewitt, Alex W AW; Höhn, René R; Venturini, Cristina C; Mirshahi, Alireza A; Ramdas, Wishal D WD; Thorleifsson, Gudmar G; Vithana, Eranga E; Khor, Chiea-Chuen CC; Stefansson, Arni B AB; Liao, Jiemin J; Haines, Jonathan L JL; Amin, Najaf N; Wang, Ya Xing YX; Wild, Philipp S PS; Ozel, Ayse B AB; Li, Jun Z JZ; Fleck, Brian W BW; Zeller, Tanja T; Staffieri, Sandra E SE; Teo, Yik-Ying YY; Cuellar-Partida, Gabriel G; Luo, Xiaoyan X; Allingham, R Rand RR; Richards, Julia E JE; Senft, Andrea A; Karssen, Lennart C LC; Zheng, Yingfeng Y; Bellenguez, Céline C; Xu, Liang L; Iglesias, Adriana I AI; Wilson, James F JF; Kang, Jae H JH; van Leeuwen, Elisabeth M EM; Jonsson, Vesteinn V; Thorsteinsdottir, Unnur U; Despriet, Dominiek D G DDG; Ennis, Sarah S; Moroi, Sayoko E SE; Martin, Nicholas G NG; Jansonius, Nomdo M NM; Yazar, Seyhan S; Tai, E-Shyong ES; Amouyel, Philippe P; Kirwan, James J; van Koolwijk, Leonieke M E LME; Hauser, Michael A MA; Jonasson, Fridbert F; Leo, Paul P; Loomis, Stephanie J SJ; Fogarty, Rhys R; Rivadeneira, Fernando F; Kearns, Lisa L; Lackner, Karl J KJ; de Jong, Paulus T V M PTVM; Simpson, Claire L CL; Pennell, Craig E CE; Oostra, Ben A BA; Uitterlinden, André G AG; Saw, Seang-Mei SM; Lotery, Andrew J AJ; Bailey-Wilson, Joan E JE; Hofman, Albert A; Vingerling, Johannes R JR; Maubaret, Cécilia C; Pfeiffer, Norbert N; Wolfs, Roger C W RCW; Lemij, Hans G HG; Young, Terri L TL; Pasquale, Louis R LR; Delcourt, Cécile C; Spector, Timothy D TD; Klaver, Caroline C W CCW; Small, Kerrin S KS; Burdon, Kathryn P KP; Stefansson, Kari K; Wong, Tien-Yin TY; , ; , ; , ; Viswanathan, Ananth A; Mackey, David A DA; Craig, Jamie E JE; Wiggs, Janey L JL; van Duijn, Cornelia M CM; Hammond, Christopher J CJ; Aung, Tin T
Mapping of gene expression reveals CYP27A1 as a susceptibility gene for sporadic ALS.
Plos One
Diekstra, Frank P FP; Saris, Christiaan G J CG; van Rheenen, Wouter W; Franke, Lude L; Jansen, Ritsert C RC; van Es, Michael A MA; van Vught, Paul W J PW; Blauw, Hylke M HM; Groen, Ewout J N EJ; Horvath, Steve S; Estrada, Karol K; Rivadeneira, Fernando F; Hofman, Albert A; Uitterlinden, Andre G AG; Robberecht, Wim W; Andersen, Peter M PM; Melki, Judith J; Meininger, Vincent V; Hardiman, Orla O; Landers, John E JE; Brown, Robert H RH; Shatunov, Aleksey A; Shaw, Christopher E CE; Leigh, P Nigel PN; Al-Chalabi, Ammar A; Ophoff, Roel A RA; van den Berg, Leonard H LH; Veldink, Jan H JH