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Novel approach to genetic analysis and results in 3000 hemophilia patients enrolled in the My Life, Our Future initiative.
Johnsen JM, Fletcher SN, Huston H, Roberge S, Martin BK, Kircher M, Josephson NC, Shendure J, Ruuska S, Koerper MA, Morales J, Pierce GF, Aschman DJ, Konkle BA. Johnsen JM, et al. Among authors: kircher m. Blood Adv. 2017 May 18;1(13):824-834. doi: 10.1182/bloodadvances.2016002923. eCollection 2017 May 23. Blood Adv. 2017. PMID: 29296726 Free PMC article.
Results of genetic analysis of 11 341 participants enrolled in the My Life, Our Future hemophilia genotyping initiative in the United States.
Johnsen JM, Fletcher SN, Dove A, McCracken H, Martin BK, Kircher M, Josephson NC, Shendure J, Ruuska SE, Valentino LA, Pierce GF, Watson C, Cheng D, Recht M, Konkle BA. Johnsen JM, et al. Among authors: kircher m. J Thromb Haemost. 2022 Sep;20(9):2022-2034. doi: 10.1111/jth.15805. Epub 2022 Jul 17. J Thromb Haemost. 2022. PMID: 35770352 Free article.
Multiplex assessment of protein variant abundance by massively parallel sequencing.
Matreyek KA, Starita LM, Stephany JJ, Martin B, Chiasson MA, Gray VE, Kircher M, Khechaduri A, Dines JN, Hause RJ, Bhatia S, Evans WE, Relling MV, Yang W, Shendure J, Fowler DM. Matreyek KA, et al. Among authors: kircher m. Nat Genet. 2018 Jun;50(6):874-882. doi: 10.1038/s41588-018-0122-z. Epub 2018 May 21. Nat Genet. 2018. PMID: 29785012 Free PMC article.
325 results