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Page 1
Homozygosity for a stop-gain variant in CCDC201 causes primary ovarian insufficiency.
Oddsson A, Steinthorsdottir V, Oskarsson GR, Styrkarsdottir U, Moore KHS, Isberg S, Halldorsson GH, Sveinbjornsson G, Westergaard D, Nielsen HS, Fridriksdottir R, Jensson BO, Arnadottir GA, Jonsson H, Sturluson A, Snaebjarnarson AS, Andreassen OA, Walters GB, Nyegaard M, Erikstrup C, Steingrimsdottir T, Lie RT, Melsted P, Jonsdottir I, Halldorsson BV, Thorleifsson G, Saemundsdottir J, Magnusson OT; DBDS Genomic Consortium; Banasik K, Sorensen E, Masson G, Pedersen OB, Tryggvadottir L, Haavik J, Ostrowski SR, Stefansson H, Holm H, Rafnar T, Gudbjartsson DF, Sulem P, Stefansson K. Oddsson A, et al. Among authors: moore khs. Nat Genet. 2024 Sep;56(9):1804-1810. doi: 10.1038/s41588-024-01885-6. Epub 2024 Aug 27. Nat Genet. 2024. PMID: 39192094 Free PMC article.
Start codon variant in LAG3 is associated with decreased LAG-3 expression and increased risk of autoimmune thyroid disease.
Saevarsdottir S, Bjarnadottir K, Markusson T, Berglund J, Olafsdottir TA, Halldorsson GH, Rutsdottir G, Gunnarsdottir K, Arnthorsson AO, Lund SH, Stefansdottir L, Gudmundsson J, Johannesson AJ, Sturluson A, Oddsson A, Halldorsson B, Ludviksson BR, Ferkingstad E, Ivarsdottir EV, Sveinbjornsson G, Grondal G, Masson G, Eldjarn GH, Thorisson GA, Kristjansdottir K, Knowlton KU, Moore KHS, Gudjonsson SA, Rognvaldsson S, Knight S, Nadauld LD, Holm H, Magnusson OT, Sulem P, Gudbjartsson DF, Rafnar T, Thorleifsson G, Melsted P, Norddahl GL, Jonsdottir I, Stefansson K. Saevarsdottir S, et al. Among authors: moore khs. Nat Commun. 2024 Jul 9;15(1):5748. doi: 10.1038/s41467-024-50007-7. Nat Commun. 2024. PMID: 38982041 Free PMC article.
The rate and nature of mitochondrial DNA mutations in human pedigrees.
Árnadóttir ER, Moore KHS, Guðmundsdóttir VB, Ebenesersdóttir SS, Guity K, Jónsson H, Stefánsson K, Helgason A. Árnadóttir ER, et al. Among authors: moore khs. Cell. 2024 Jul 25;187(15):3904-3918.e8. doi: 10.1016/j.cell.2024.05.022. Epub 2024 Jun 7. Cell. 2024. PMID: 38851187
Spatiotemporal immune atlas of a clinical-grade gene-edited pig-to-human kidney xenotransplant.
Cheung MD, Asiimwe R, Erman EN, Fucile CF, Liu S, Sun CW, Hanumanthu VS, Pal HC, Wright ED, Ghajar-Rahimi G, Epstein D, Orandi BJ, Kumar V, Anderson DJ, Greene ME, Bell M, Yates S, Moore KH, LaFontaine J, Killian JT Jr, Baker G, Perry J, Khan Z, Reed R, Little SC, Rosenberg AF, George JF, Locke JE, Porrett PM. Cheung MD, et al. Among authors: moore kh. Nat Commun. 2024 Apr 11;15(1):3140. doi: 10.1038/s41467-024-47454-7. Nat Commun. 2024. PMID: 38605083 Free PMC article.
220 results