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Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.
Pena LDM, Jiang YH, Schoch K, Spillmann RC, Walley N, Stong N, Rapisardo Horn S, Sullivan JA, McConkie-Rosell A, Kansagra S, Smith EC, El-Dairi M, Bellet J, Keels MA, Jasien J, Kranz PG, Noel R, Nagaraj SK, Lark RK, Wechsler DSG, Del Gaudio D, Leung ML, Hendon LG, Parker CC, Jones KL; Undiagnosed Diseases Network Members; Goldstein DB, Shashi V. Pena LDM, et al. Genet Med. 2018 Apr;20(4):464-469. doi: 10.1038/gim.2017.128. Epub 2017 Sep 14. Genet Med. 2018. PMID: 28914269 Free PMC article.
Population Diversity at the Single-Cell Level.
Gordon MG, Kathail P, Choy B, Kim MC, Mazumder T, Gearing M, Ye CJ. Gordon MG, et al. Annu Rev Genomics Hum Genet. 2024 Feb 21. doi: 10.1146/annurev-genom-021623-083207. Online ahead of print. Annu Rev Genomics Hum Genet. 2024. PMID: 38382493 Review.
Single-cell RNA-sequencing of peripheral blood mononuclear cells reveals widespread, context-specific gene expression regulation upon pathogenic exposure.
Oelen R, de Vries DH, Brugge H, Gordon MG, Vochteloo M; single-cell eQTLGen consortium; BIOS Consortium; Ye CJ, Westra HJ, Franke L, van der Wijst MGP. Oelen R, et al. Among authors: gordon mg. Nat Commun. 2022 Jun 7;13(1):3267. doi: 10.1038/s41467-022-30893-5. Nat Commun. 2022. PMID: 35672358 Free PMC article.
Single-cell RNA-seq reveals cell type-specific molecular and genetic associations to lupus.
Perez RK, Gordon MG, Subramaniam M, Kim MC, Hartoularos GC, Targ S, Sun Y, Ogorodnikov A, Bueno R, Lu A, Thompson M, Rappoport N, Dahl A, Lanata CM, Matloubian M, Maliskova L, Kwek SS, Li T, Slyper M, Waldman J, Dionne D, Rozenblatt-Rosen O, Fong L, Dall'Era M, Balliu B, Regev A, Yazdany J, Criswell LA, Zaitlen N, Ye CJ. Perez RK, et al. Among authors: gordon mg. Science. 2022 Apr 8;376(6589):eabf1970. doi: 10.1126/science.abf1970. Epub 2022 Apr 8. Science. 2022. PMID: 35389781 Free PMC article.
Single-cell eQTL mapping identifies cell type-specific genetic control of autoimmune disease.
Yazar S, Alquicira-Hernandez J, Wing K, Senabouth A, Gordon MG, Andersen S, Lu Q, Rowson A, Taylor TRP, Clarke L, Maccora K, Chen C, Cook AL, Ye CJ, Fairfax KA, Hewitt AW, Powell JE. Yazar S, et al. Among authors: gordon mg. Science. 2022 Apr 8;376(6589):eabf3041. doi: 10.1126/science.abf3041. Epub 2022 Apr 8. Science. 2022. PMID: 35389779
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