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: PEX6: 2816C>G; Pro939Arg
Population-scale proteome variation in human induced pluripotent stem cells.
Elife
Mirauta, Bogdan Andrei BA; Seaton, Daniel D DD; Bensaddek, Dalila D; Brenes, Alejandro A; Bonder, Marc Jan MJ; Kilpinen, Helena H; , ; Stegle, Oliver O; Lamond, Angus I AI
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
Single-Nucleotide Polymorphisms Within MicroRNAs Sequences and Their 3' UTR Target Sites May Regulate Gene Expression in Gastrointestinal Tract Cancers.
Iranian Red Crescent Medical Journal
Saadatian, Zahra Z; Masotti, Andrea A; Nariman Saleh Fam, Ziba Z; Alipoor, Behnam B; Bastami, Milad M; Ghaedi, Hamid H
Human liver methionine cycle: MAT1A and GNMT gene resequencing, functional genomics, and hepatic genotype-phenotype correlation.
Drug Metabolism And Disposition: The Biological Fate Of Chemicals
Ji, Yuan Y; Nordgren, Kendra K S KK; Chai, Yubo Y; Hebbring, Scott J SJ; Jenkins, Gregory D GD; Abo, Ryan P RP; Peng, Yi Y; Pelleymounter, Linda L LL; Moon, Irene I; Eckloff, Bruce W BW; Chai, Xiaoshan X; Zhang, Jianping J; Fridley, Brooke L BL; Yee, Vivien C VC; Wieben, Eric D ED; Weinshilboum, Richard M RM