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Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance.
Wai HA, Lord J, Lyon M, Gunning A, Kelly H, Cibin P, Seaby EG, Spiers-Fitzgerald K, Lye J, Ellard S, Thomas NS, Bunyan DJ, Douglas AGL, Baralle D; Splicing and disease working group. Wai HA, et al. Among authors: bunyan dj. Genet Med. 2020 Jun;22(6):1005-1014. doi: 10.1038/s41436-020-0766-9. Epub 2020 Mar 3. Genet Med. 2020. PMID: 32123317 Free PMC article.
Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B).
Norman CS, O'Gorman L, Gibson J, Pengelly RJ, Baralle D, Ratnayaka JA, Griffiths H, Rose-Zerilli M, Ranger M, Bunyan D, Lee H, Page R, Newall T, Shawkat F, Mattocks C, Ward D, Ennis S, Self JE. Norman CS, et al. Sci Rep. 2017 Jun 30;7(1):4415. doi: 10.1038/s41598-017-04401-5. Sci Rep. 2017. PMID: 28667292 Free PMC article.
89 results