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Page 1
Analysis of protein-coding genetic variation in 60,706 humans.
Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, O'Donnell-Luria AH, Ware JS, Hill AJ, Cummings BB, Tukiainen T, Birnbaum DP, Kosmicki JA, Duncan LE, Estrada K, Zhao F, Zou J, Pierce-Hoffman E, Berghout J, Cooper DN, Deflaux N, DePristo M, Do R, Flannick J, Fromer M, Gauthier L, Goldstein J, Gupta N, Howrigan D, Kiezun A, Kurki MI, Moonshine AL, Natarajan P, Orozco L, Peloso GM, Poplin R, Rivas MA, Ruano-Rubio V, Rose SA, Ruderfer DM, Shakir K, Stenson PD, Stevens C, Thomas BP, Tiao G, Tusie-Luna MT, Weisburd B, Won HH, Yu D, Altshuler DM, Ardissino D, Boehnke M, Danesh J, Donnelly S, Elosua R, Florez JC, Gabriel SB, Getz G, Glatt SJ, Hultman CM, Kathiresan S, Laakso M, McCarroll S, McCarthy MI, McGovern D, McPherson R, Neale BM, Palotie A, Purcell SM, Saleheen D, Scharf JM, Sklar P, Sullivan PF, Tuomilehto J, Tsuang MT, Watkins HC, Wilson JG, Daly MJ, MacArthur DG; Exome Aggregation Consortium. Lek M, et al. Nature. 2016 Aug 18;536(7616):285-91. doi: 10.1038/nature19057. Nature. 2016. PMID: 27535533 Free PMC article.
[Molecular diagnostics in diabetes mellitus].
Bjørkhaug L, Johansson S, Raeder H, Thorsby PM, Undlien DE, Søvik O, Molven A, Sagen JV, Njølstad PR. Bjørkhaug L, et al. Tidsskr Nor Laegeforen. 2005 Nov 3;125(21):2968-72. Tidsskr Nor Laegeforen. 2005. PMID: 16276383 Free article. Review. Norwegian.
Characterisation of HNF1A variants in paediatric diabetes in Norway using functional and clinical investigations to unmask phenotype and monogenic diabetes.
Svalastoga P, Kaci A, Molnes J, Solheim MH, Johansson BB, Krogvold L, Skrivarhaug T, Valen E, Johansson S, Molven A, Sagen JV, Søfteland E, Bjørkhaug L, Tjora E, Aukrust I, Njølstad PR. Svalastoga P, et al. Among authors: bjorkhaug l. Diabetologia. 2023 Dec;66(12):2226-2237. doi: 10.1007/s00125-023-06012-4. Epub 2023 Oct 5. Diabetologia. 2023. PMID: 37798422 Free PMC article.
A novel splice-affecting HNF1A variant with large population impact on diabetes in Greenland.
Thuesen ACB, Stæger FF, Kaci A, Solheim MH, Aukrust I, Jørsboe E, Santander CG, Andersen MK, Li Z, Gilly A, Stinson SE, Gjesing AP, Bjerregaard P, Pedersen ML, Larsen CVL, Grarup N, Jørgensen ME, Zeggini E, Bjørkhaug L, Njølstad PR, Albrechtsen A, Moltke I, Hansen T. Thuesen ACB, et al. Among authors: bjorkhaug l. Lancet Reg Health Eur. 2022 Nov 11;24:100529. doi: 10.1016/j.lanepe.2022.100529. eCollection 2023 Jan. Lancet Reg Health Eur. 2022. PMID: 36649380 Free PMC article.
42 results