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1,016 results

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A truncating mutation in EPOR leads to hypo-responsiveness to erythropoietin with normal haemoglobin.
Oskarsson GR, Kristjansson RP, Lee AL, Sveinbjornsson G, Magnusson MK, Ivarsdottir EV, Benonisdottir S, Oddsson A, Davidsson OB, Saemundsdottir J, Halldorsson GH, Arthur J, Arnadottir GA, Masson G, Jensson BO, Holm H, Olafsson I, Onundarson PT, Gudbjartsson DF, Norddahl GL, Thorsteinsdottir U, Sulem P, Stefansson K. Oskarsson GR, et al. Among authors: arthur j. Commun Biol. 2018 May 17;1:49. doi: 10.1038/s42003-018-0053-3. eCollection 2018. Commun Biol. 2018. PMID: 30271932 Free PMC article.
Sequence variants associating with urinary biomarkers.
Benonisdottir S, Kristjansson RP, Oddsson A, Steinthorsdottir V, Mikaelsdottir E, Kehr B, Jensson BO, Arnadottir GA, Sulem G, Sveinbjornsson G, Kristmundsdottir S, Ivarsdottir EV, Tragante V, Gunnarsson B, Runolfsdottir HL, Arthur JG, Deaton AM, Eyjolfsson GI, Davidsson OB, Asselbergs FW, Hreidarsson AB, Rafnar T, Thorleifsson G, Edvardsson V, Sigurdsson G, Helgadottir A, Halldorsson BV, Masson G, Holm H, Onundarson PT, Indridason OS, Benediktsson R, Palsson R, Gudbjartsson DF, Olafsson I, Thorsteinsdottir U, Sulem P, Stefansson K. Benonisdottir S, et al. Hum Mol Genet. 2019 Apr 1;28(7):1199-1211. doi: 10.1093/hmg/ddy409. Hum Mol Genet. 2019. PMID: 30476138 Free PMC article.
A loss-of-function variant in ALOX15 protects against nasal polyps and chronic rhinosinusitis.
Kristjansson RP, Benonisdottir S, Davidsson OB, Oddsson A, Tragante V, Sigurdsson JK, Stefansdottir L, Jonsson S, Jensson BO, Arthur JG, Arnadottir GA, Sulem G, Halldorsson BV, Gunnarsson B, Halldorsson GH, Stefansson OA, Oskarsson GR, Deaton AM, Olafsson I, Eyjolfsson GI, Sigurdardottir O, Onundarson PT, Gislason D, Gislason T, Ludviksson BR, Ludviksdottir D, Olafsdottir TA, Rafnar T, Masson G, Zink F, Bjornsdottir G, Magnusson OT, Bjornsdottir US, Thorleifsson G, Norddahl GL, Gudbjartsson DF, Thorsteinsdottir U, Jonsdottir I, Sulem P, Stefansson K. Kristjansson RP, et al. Nat Genet. 2019 Feb;51(2):267-276. doi: 10.1038/s41588-018-0314-6. Epub 2019 Jan 14. Nat Genet. 2019. PMID: 30643255
Haplotype-resolved and integrated genome analysis of the cancer cell line HepG2.
Zhou B, Ho SS, Greer SU, Spies N, Bell JM, Zhang X, Zhu X, Arthur JG, Byeon S, Pattni R, Saha I, Huang Y, Song G, Perrin D, Wong WH, Ji HP, Abyzov A, Urban AE. Zhou B, et al. Nucleic Acids Res. 2019 May 7;47(8):3846-3861. doi: 10.1093/nar/gkz169. Nucleic Acids Res. 2019. PMID: 30864654 Free PMC article.
Combinatorial single-cell CRISPR screens by direct guide RNA capture and targeted sequencing.
Replogle JM, Norman TM, Xu A, Hussmann JA, Chen J, Cogan JZ, Meer EJ, Terry JM, Riordan DP, Srinivas N, Fiddes IT, Arthur JG, Alvarado LJ, Pfeiffer KA, Mikkelsen TS, Weissman JS, Adamson B. Replogle JM, et al. Among authors: arthur jg. Nat Biotechnol. 2020 Aug;38(8):954-961. doi: 10.1038/s41587-020-0470-y. Epub 2020 Mar 30. Nat Biotechnol. 2020. PMID: 32231336 Free PMC article.
Large Animal Translational Validation of 3 Mitral Valve Repair Operations for Mitral Regurgitation Using a Mitral Valve Prolapse Model: A Comprehensive In Vivo Biomechanical Engineering Analysis.
Zhu Y, Yajima S, Park MH, Venkatesh A, Stark CJ, Tran NA, Walsh SK, Ethiraj S, Wilkerson RJ, Lin LE, Lee SH, Gates KY, Arthur JD, Baker SW, Mullis DM, Wu CA, Harima S, Pokhrel B, Resuello D, Bergamasco H, Wu MA, Baccouche BM, Pandya PK, Elde S, Wang H, Woo YJ. Zhu Y, et al. Among authors: arthur jd. Circ Cardiovasc Interv. 2024 Apr;17(4):e013196. doi: 10.1161/CIRCINTERVENTIONS.123.013196. Epub 2024 Apr 16. Circ Cardiovasc Interv. 2024. PMID: 38626077
1,016 results