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: AMACR: V185A; rs145786819
Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.
Jama Neurology
Fogel, Brent L BL; Lee, Hane H; Deignan, Joshua L JL; Strom, Samuel P SP; Kantarci, Sibel S; Wang, Xizhe X; Quintero-Rivera, Fabiola F; Vilain, Eric E; Grody, Wayne W WW; Perlman, Susan S; Geschwind, Daniel H DH; Nelson, Stanley F SF
Publication Date: 2014-10
Variant appearance in text: AMACR: 554T>C; Val185Ala
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.
Nature Genetics
Calvo, Sarah E SE; Tucker, Elena J EJ; Compton, Alison G AG; Kirby, Denise M DM; Crawford, Gabriel G; Burtt, Noel P NP; Rivas, Manuel M; Guiducci, Candace C; Bruno, Damien L DL; Goldberger, Olga A OA; Redman, Michelle C MC; Wiltshire, Esko E; Wilson, Callum J CJ; Altshuler, David D; Gabriel, Stacey B SB; Daly, Mark J MJ; Thorburn, David R DR; Mootha, Vamsi K VK