Publications

Showing 2 of 2 Publications

2024

Translating multiscale research in rare disease
Hooper K, Justice M, Lek M, Liu K, Rauen K. Translating multiscale research in rare disease. Disease Models & Mechanisms 2024, 17: dmm052009. PMID: 38982973, PMCID: PMC11261626, DOI: 10.1242/dmm.052009.
Peer-Reviewed Original Research
MeSH Keywords

2016

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 A, 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. Analysis of protein-coding genetic variation in 60,706 humans. Nature 2016, 536: 285-291. PMID: 27535533, PMCID: PMC5018207, DOI: 10.1038/nature19057.
Peer-Reviewed Original Research
MeSH Keywords and Concepts

This site is protected by hCaptcha and its Privacy Policy and Terms of Service apply