A whole-exome case-control association study to characterize the contribution of rare coding variation to pancreatic cancer risk.
Hgg Advances
Yu, Yao Y; Chang, Kyle K; Chen, Jiun-Sheng JS; Bohlender, Ryan J RJ; Fowler, Jerry J; Zhang, Di D; Huang, Maosheng M; Chang, Ping P; Li, Yanan Y; Wong, Justin J; Wang, Huamin H; Gu, Jian J; Wu, Xifeng X; Schildkraut, Joellen J; Cannon-Albright, Lisa L; Ye, Yuanqing Y; Zhao, Hua H; Hildebrandt, Michelle A T MAT; Permuth, Jennifer B JB; Li, Donghui D; Scheet, Paul P; Huff, Chad D CD
TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.
Nature Communications
Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N
Publication Date: 2018-11-01
Variant appearance in text: OR52A1: R124H; rs147169118
Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.
Cell Reports
Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z
Publication Date: 2018-10-30
Variant appearance in text: OR52A1: R124H; rs147169118
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: OR52A1: R124H; rs147169118
Whole exome sequencing in 75 high-risk families with validation and replication in independent case-control studies identifies TANGO2, OR5H14, and CHAD as new prostate cancer susceptibility genes.
Oncotarget
Karyadi, Danielle M DM; Geybels, Milan S MS; Karlins, Eric E; Decker, Brennan B; McIntosh, Laura L; Hutchinson, Amy A; Kolb, Suzanne S; McDonnell, Shannon K SK; Hicks, Belynda B; Middha, Sumit S; FitzGerald, Liesel M LM; DeRycke, Melissa S MS; Yeager, Meredith M; Schaid, Daniel J DJ; Chanock, Stephen J SJ; Thibodeau, Stephen N SN; Berndt, Sonja I SI; Stanford, Janet L JL; Ostrander, Elaine A EA
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