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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: lee al. Commun Biol. 2018 May 17;1:49. doi: 10.1038/s42003-018-0053-3. eCollection 2018. Commun Biol. 2018. PMID: 30271932 Free PMC article.
Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis.
Oskarsson GR, Oddsson A, Magnusson MK, Kristjansson RP, Halldorsson GH, Ferkingstad E, Zink F, Helgadottir A, Ivarsdottir EV, Arnadottir GA, Jensson BO, Katrinardottir H, Sveinbjornsson G, Kristinsdottir AM, Lee AL, Saemundsdottir J, Stefansdottir L, Sigurdsson JK, Davidsson OB, Benonisdottir S, Jonasdottir A, Jonasdottir A, Jonsson S, Gudmundsson RL, Asselbergs FW, Tragante V, Gunnarsson B, Masson G, Thorleifsson G, Rafnar T, Holm H, Olafsson I, Onundarson PT, Gudbjartsson DF, Norddahl GL, Thorsteinsdottir U, Sulem P, Stefansson K. Oskarsson GR, et al. Among authors: lee al. Commun Biol. 2020 Apr 23;3(1):189. doi: 10.1038/s42003-020-0921-5. Commun Biol. 2020. PMID: 32327693 Free PMC article.
MAP1B mutations cause intellectual disability and extensive white matter deficit.
Walters GB, Gustafsson O, Sveinbjornsson G, Eiriksdottir VK, Agustsdottir AB, Jonsdottir GA, Steinberg S, Gunnarsson AF, Magnusson MI, Unnsteinsdottir U, Lee AL, Jonasdottir A, Sigurdsson A, Jonasdottir A, Skuladottir A, Jonsson L, Nawaz MS, Sulem P, Frigge M, Ingason A, Love A, Norddhal GL, Zervas M, Gudbjartsson DF, Ulfarsson MO, Saemundsen E, Stefansson H, Stefansson K. Walters GB, et al. Among authors: lee al. Nat Commun. 2018 Aug 27;9(1):3456. doi: 10.1038/s41467-018-05595-6. Nat Commun. 2018. PMID: 30150678 Free PMC article.
Storylines of family medicine IV: perspectives on practice-lenses of appreciation.
Ventres WB, Stone LA, Akhtar R, Ring JM, Candib LM, Messias E, Epstein RM, Tunzi M, Lee AL, Morley CP, Brown CM, Slawson D, Konkin J, Campbell DG, Couper I, Williams S, Brooks R, Walters L. Ventres WB, et al. Among authors: lee al. Fam Med Community Health. 2024 Apr 12;12(Suppl 3):e002791. doi: 10.1136/fmch-2024-002791. Fam Med Community Health. 2024. PMID: 38609092 Free PMC article.
394 results