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
Integrated molecular drivers coordinate biological and clinical states in melanoma.
Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Synthetic modeling reveals HOXB genes are critical for the initiation and maintenance of human leukemia.
Nature Communications
Kusakabe, Manabu M; Sun, Ann Chong AC; Tyshchenko, Kateryna K; Wong, Rachel R; Nanda, Aastha A; Shanna, Claire C; Gusscott, Samuel S; Chavez, Elizabeth A EA; Lorzadeh, Alireza A; Zhu, Alice A; Hill, Ainsleigh A; Hung, Stacy S; Brown, Scott S; Babaian, Artem A; Wang, Xuehai X; Holt, Robert A RA; Steidl, Christian C; Karsan, Aly A; Humphries, R Keith RK; Eaves, Connie J CJ; Hirst, Martin M; Weng, Andrew P AP
Publication Date: 2019-07-02
Variant appearance in text: RP1: 1118C>T; Thr373Ile; rs77775126
A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies.
Scientific Reports
Ezquerra-Inchausti, Maitane M; Anasagasti, Ander A; Barandika, Olatz O; Garay-Aramburu, Gonzaga G; Galdós, Marta M; López de Munain, Adolfo A; Irigoyen, Cristina C; Ruiz-Ederra, Javier J
Publication Date: 2018-10-18
Variant appearance in text: RP1: 1118C>T; Thr373Ile
Target 5000: Target Capture Sequencing for Inherited Retinal Degenerations.
Genes
Dockery, Adrian A; Stephenson, Kirk K; Keegan, David D; Wynne, Niamh N; Silvestri, Giuliana G; Humphries, Peter P; Kenna, Paul F PF; Carrigan, Matthew M; Farrar, G Jane GJ
Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.
Scientific Reports
Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE
Publication Date: 2017-04-25
Variant appearance in text: RP1: T373I; rs77775126
Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases.
Molecular Vision
Kabir, Firoz F; Ullah, Inayat I; Ali, Shahbaz S; Gottsch, Alexander D H AD; Naeem, Muhammad Asif MA; Assir, Muhammad Zaman MZ; Khan, Shaheen N SN; Akram, Javed J; Riazuddin, Sheikh S; Ayyagari, Radha R; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2016
Variant appearance in text: RP1: 1118C>T; Thr373Ile
Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.
Plos One
Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E
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: RP1: T373I; rs77775126
A murine RP1 missense mutation causes protein mislocalization and slowly progressive photoreceptor degeneration.
The American Journal Of Pathology
Song, Delu D; Grieco, Steve S; Li, Yafeng Y; Hunter, Allan A; Chu, Sally S; Zhao, Liangliang L; Song, Ying Y; DeAngelis, Robert A RA; Shi, Lan-Ying LY; Liu, Qin Q; Pierce, Eric A EA; Nishina, Patsy M PM; Lambris, John D JD; Dunaief, Joshua L JL
Exome sequencing identifies potential risk variants for Mendelian disorders at high prevalence in Qatar.
Human Mutation
Rodriguez-Flores, Juan L JL; Fakhro, Khalid K; Hackett, Neil R NR; Salit, Jacqueline J; Fuller, Jennifer J; Agosto-Perez, Francisco F; Gharbiah, Maey M; Malek, Joel A JA; Zirie, Mahmoud M; Jayyousi, Amin A; Badii, Ramin R; Al-Nabet Al-Marri, Ajayeb A; Chouchane, Lotfi L; Stadler, Dora J DJ; Mezey, Jason G JG; Crystal, Ronald G RG
Publication Date: 2014-01
Variant appearance in text: RP1: Thr373Ile; rs77775126
Next-generation genetic testing for retinitis pigmentosa.
Human Mutation
Neveling, Kornelia K; Collin, Rob W J RW; Gilissen, Christian C; van Huet, Ramon A C RA; Visser, Linda L; Kwint, Michael P MP; Gijsen, Sabine J SJ; Zonneveld, Marijke N MN; Wieskamp, Nienke N; de Ligt, Joep J; Siemiatkowska, Anna M AM; Hoefsloot, Lies H LH; Buckley, Michael F MF; Kellner, Ulrich U; Branham, Kari E KE; den Hollander, Anneke I AI; Hoischen, Alexander A; Hoyng, Carel C; Klevering, B Jeroen BJ; van den Born, L Ingeborgh LI; Veltman, Joris A JA; Cremers, Frans P M FP; Scheffer, Hans H
Differential pattern of RP1 mutations in retinitis pigmentosa.
Molecular Vision
Zhang, Xin X; Chen, Li Jia LJ; Law, Jonathan P JP; Lai, Timothy Y Y TY; Chiang, Sylvia W Y SW; Tam, Pancy O S PO; Chu, Kwan Yi KY; Wang, Ningli N; Zhang, Mingzhi M; Pang, Chi Pui CP