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From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus.
Musunuru K, Strong A, Frank-Kamenetsky M, Lee NE, Ahfeldt T, Sachs KV, Li X, Li H, Kuperwasser N, Ruda VM, Pirruccello JP, Muchmore B, Prokunina-Olsson L, Hall JL, Schadt EE, Morales CR, Lund-Katz S, Phillips MC, Wong J, Cantley W, Racie T, Ejebe KG, Orho-Melander M, Melander O, Koteliansky V, Fitzgerald K, Krauss RM, Cowan CA, Kathiresan S, Rader DJ. Musunuru K, et al. Among authors: kathiresan s. Nature. 2010 Aug 5;466(7307):714-9. doi: 10.1038/nature09266. Nature. 2010. PMID: 20686566 Free PMC article.
Induced Pluripotent Stem Cell Differentiation Enables Functional Validation of GWAS Variants in Metabolic Disease.
Warren CR, O'Sullivan JF, Friesen M, Becker CE, Zhang X, Liu P, Wakabayashi Y, Morningstar JE, Shi X, Choi J, Xia F, Peters DT, Florido MHC, Tsankov AM, Duberow E, Comisar L, Shay J, Jiang X, Meissner A, Musunuru K, Kathiresan S, Daheron L, Zhu J, Gerszten RE, Deo RC, Vasan RS, O'Donnell CJ, Cowan CA. Warren CR, et al. Among authors: kathiresan s. Cell Stem Cell. 2017 Apr 6;20(4):547-557.e7. doi: 10.1016/j.stem.2017.01.010. Cell Stem Cell. 2017. PMID: 28388431 Free article.
Exome-wide association study of plasma lipids in >300,000 individuals.
Liu DJ, Peloso GM, Yu H, Butterworth AS, Wang X, Mahajan A, Saleheen D, Emdin C, Alam D, Alves AC, Amouyel P, Di Angelantonio E, Arveiler D, Assimes TL, Auer PL, Baber U, Ballantyne CM, Bang LE, Benn M, Bis JC, Boehnke M, Boerwinkle E, Bork-Jensen J, Bottinger EP, Brandslund I, Brown M, Busonero F, Caulfield MJ, Chambers JC, Chasman DI, Chen YE, Chen YI, Chowdhury R, Christensen C, Chu AY, Connell JM, Cucca F, Cupples LA, Damrauer SM, Davies G, Deary IJ, Dedoussis G, Denny JC, Dominiczak A, Dubé MP, Ebeling T, Eiriksdottir G, Esko T, Farmaki AE, Feitosa MF, Ferrario M, Ferrieres J, Ford I, Fornage M, Franks PW, Frayling TM, Frikke-Schmidt R, Fritsche LG, Frossard P, Fuster V, Ganesh SK, Gao W, Garcia ME, Gieger C, Giulianini F, Goodarzi MO, Grallert H, Grarup N, Groop L, Grove ML, Gudnason V, Hansen T, Harris TB, Hayward C, Hirschhorn JN, Holmen OL, Huffman J, Huo Y, Hveem K, Jabeen S, Jackson AU, Jakobsdottir J, Jarvelin MR, Jensen GB, Jørgensen ME, Jukema JW, Justesen JM, Kamstrup PR, Kanoni S, Karpe F, Kee F, Khera AV, Klarin D, Koistinen HA, Kooner JS, Kooperberg C, Kuulasmaa K, Kuusisto J, Laakso M, Lakka T, Langenberg C, Langsted A, Launer LJ, Lauritzen T, Liewald DCM, Lin L… See abstract for full author list ➔ Liu DJ, et al. Among authors: kathiresan s. Nat Genet. 2017 Dec;49(12):1758-1766. doi: 10.1038/ng.3977. Epub 2017 Oct 30. Nat Genet. 2017. PMID: 29083408 Free PMC article.
Role of angiopoietin-like 3 (ANGPTL3) in regulating plasma level of low-density lipoprotein cholesterol.
Xu YX, Redon V, Yu H, Querbes W, Pirruccello J, Liebow A, Deik A, Trindade K, Wang X, Musunuru K, Clish CB, Cowan C, Fizgerald K, Rader D, Kathiresan S. Xu YX, et al. Among authors: kathiresan s. Atherosclerosis. 2018 Jan;268:196-206. doi: 10.1016/j.atherosclerosis.2017.08.031. Epub 2017 Sep 21. Atherosclerosis. 2018. PMID: 29183623 Free PMC article.
GPR146 Deficiency Protects against Hypercholesterolemia and Atherosclerosis.
Yu H, Rimbert A, Palmer AE, Toyohara T, Xia Y, Xia F, Ferreira LMR, Chen Z, Chen T, Loaiza N, Horwitz NB, Kacergis MC, Zhao L; BIOS Consortium; Soukas AA, Kuivenhoven JA, Kathiresan S, Cowan CA. Yu H, et al. Among authors: kathiresan s. Cell. 2019 Nov 27;179(6):1276-1288.e14. doi: 10.1016/j.cell.2019.10.034. Cell. 2019. PMID: 31778654 Free PMC article.
EDEM3 Modulates Plasma Triglyceride Level through Its Regulation of LRP1 Expression.
Xu YX, Peloso GM, Nagai TH, Mizoguchi T, Deik A, Bullock K, Lin H, Musunuru K, Yang Q, Vasan RS, Gerszten RE, Clish CB, Rader D, Kathiresan S. Xu YX, et al. Among authors: kathiresan s. iScience. 2020 Apr 24;23(4):100973. doi: 10.1016/j.isci.2020.100973. Epub 2020 Mar 11. iScience. 2020. PMID: 32213464 Free PMC article.
Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale.
Li X, Li Z, Zhou H, Gaynor SM, Liu Y, Chen H, Sun R, Dey R, Arnett DK, Aslibekyan S, Ballantyne CM, Bielak LF, Blangero J, Boerwinkle E, Bowden DW, Broome JG, Conomos MP, Correa A, Cupples LA, Curran JE, Freedman BI, Guo X, Hindy G, Irvin MR, Kardia SLR, Kathiresan S, Khan AT, Kooperberg CL, Laurie CC, Liu XS, Mahaney MC, Manichaikul AW, Martin LW, Mathias RA, McGarvey ST, Mitchell BD, Montasser ME, Moore JE, Morrison AC, O'Connell JR, Palmer ND, Pampana A, Peralta JM, Peyser PA, Psaty BM, Redline S, Rice KM, Rich SS, Smith JA, Tiwari HK, Tsai MY, Vasan RS, Wang FF, Weeks DE, Weng Z, Wilson JG, Yanek LR; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; TOPMed Lipids Working Group; Neale BM, Sunyaev SR, Abecasis GR, Rotter JI, Willer CJ, Peloso GM, Natarajan P, Lin X. Li X, et al. Among authors: kathiresan s. Nat Genet. 2020 Sep;52(9):969-983. doi: 10.1038/s41588-020-0676-4. Epub 2020 Aug 24. Nat Genet. 2020. PMID: 32839606 Free PMC article.
476 results