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Characterization of Prion Disease Associated with a Two-Octapeptide Repeat Insertion.
Brennecke N, Cali I, Mok TH, Speedy H, Genomics England Research Consortium, Hosszu LLP, Stehmann C, Cracco L, Puoti G, Prior TW, Cohen ML, Collins SJ, Mead S, Appleby BS. Brennecke N, et al. Among authors: prior tw. Viruses. 2021 Sep 8;13(9):1794. doi: 10.3390/v13091794. Viruses. 2021. PMID: 34578375 Free PMC article.
Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype.
Ruhno C, McGovern VL, Avenarius MR, Snyder PJ, Prior TW, Nery FC, Muhtaseb A, Roggenbuck JS, Kissel JT, Sansone VA, Siranosian JJ, Johnstone AJ, Nwe PH, Zhang RZ, Swoboda KJ, Burghes AHM. Ruhno C, et al. Among authors: prior tw. Hum Genet. 2019 Mar;138(3):241-256. doi: 10.1007/s00439-019-01983-0. Epub 2019 Feb 20. Hum Genet. 2019. PMID: 30788592 Free PMC article.
Characterization of Reference Materials for Spinal Muscular Atrophy Genetic Testing: A Genetic Testing Reference Materials Coordination Program Collaborative Project.
Prior TW, Bayrak-Toydemir P, Lynnes TC, Mao R, Metcalf JD, Muralidharan K, Iwata-Otsubo A, Pham HT, Pratt VM, Qureshi S, Requesens D, Shen J, Vetrini F, Kalman L. Prior TW, et al. J Mol Diagn. 2021 Jan;23(1):103-110. doi: 10.1016/j.jmoldx.2020.10.011. Epub 2020 Nov 14. J Mol Diagn. 2021. PMID: 33197628 Free PMC article.
171 results