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Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype.
Senum SR, Li YSM, Benson KA, Joli G, Olinger E, Lavu S, Madsen CD, Gregory AV, Neatu R, Kline TL, Audrézet MP, Outeda P, Nau CB, Meijer E, Ali H, Steinman TI, Mrug M, Phelan PJ, Watnick TJ, Peters DJM, Ong ACM, Conlon PJ, Perrone RD, Cornec-Le Gall E, Hogan MC, Torres VE, Sayer JA; Genomics England Research Consortium, the HALT PKD, CRISP, DIPAK, ADPKD Modifier, and TAME PKD studies; Harris PC. Senum SR, et al. Among authors: li ysm. Am J Hum Genet. 2022 Jan 6;109(1):136-156. doi: 10.1016/j.ajhg.2021.11.016. Epub 2021 Dec 9. Am J Hum Genet. 2022. PMID: 34890546 Free PMC article.
Measure transcript integrity using RNA-seq data.
Wang L, Nie J, Sicotte H, Li Y, Eckel-Passow JE, Dasari S, Vedell PT, Barman P, Wang L, Weinshiboum R, Jen J, Huang H, Kohli M, Kocher JP. Wang L, et al. BMC Bioinformatics. 2016 Feb 3;17:58. doi: 10.1186/s12859-016-0922-z. BMC Bioinformatics. 2016. PMID: 26842848 Free PMC article.
Salvage therapy expands highly cytotoxic and metabolically fit resilient CD8+ T cells via ME1 up-regulation.
Gicobi JK, Mao Z, DeFranco G, Hirdler JB, Li Y, Vianzon VV, Dellacecca ER, Hsu MA, Barham W, Yan Y, Mansfield AS, Lin Y, Wu X, Hitosugi T, Owen D, Grams MP, Orme JJ, Lucien F, Zeng H, Park SS, Dong H. Gicobi JK, et al. Sci Adv. 2023 Nov 17;9(46):eadi2414. doi: 10.1126/sciadv.adi2414. Epub 2023 Nov 15. Sci Adv. 2023. PMID: 37967193 Free PMC article.
Molecular Profile Changes in Patients with Castrate-Resistant Prostate Cancer Pre- and Post-Abiraterone/Prednisone Treatment.
Sicotte H, Kalari KR, Qin S, Dehm SM, Bhargava V, Gormley M, Tan W, Sinnwell JP, Hillman DW, Li Y, Vedell PT, Carlson RE, Bryce AH, Jimenez RE, Weinshilboum RM, Kohli M, Wang L. Sicotte H, et al. Mol Cancer Res. 2022 Dec 2;20(12):1739-1750. doi: 10.1158/1541-7786.MCR-22-0099. Mol Cancer Res. 2022. PMID: 36135372 Free PMC article.