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Critical points for an accurate human genome analysis.
White SJ, Laros JFJ, Bakker E, Cambon-Thomsen A, Eden M, Leonard S, Lochmüller H, Matthijs G, Mattocks C, Patton S, Payne K, Scheffer H, Souche E, Thomassen E, Thompson R, Traeger-Synodinos J, Van Vooren S, Janssen B, den Dunnen JT. White SJ, et al. Among authors: mattocks c. Hum Mutat. 2017 Aug;38(8):912-921. doi: 10.1002/humu.23238. Epub 2017 Jun 16. Hum Mutat. 2017. PMID: 28471515 Review.
A small gene sequencing panel realises a high diagnostic rate in patients with congenital nystagmus following basic phenotyping.
O'Gorman L, Norman CS, Michaels L, Newall T, Crosby AH, Mattocks C, Cree AJ, Lotery AJ, Baple EL, Ratnayaka JA, Baralle D, Lee H, Osborne D, Shawkat F, Gibson J, Ennis S, Self JE. O'Gorman L, et al. Among authors: mattocks c. Sci Rep. 2019 Sep 13;9(1):13229. doi: 10.1038/s41598-019-49368-7. Sci Rep. 2019. PMID: 31519934 Free PMC article.
Comparative sequence analysis.
Mattocks C, Tarpey P, Whittaker J. Mattocks C, et al. Methods Mol Med. 2004;92:115-24. doi: 10.1385/1-59259-432-8:115. Methods Mol Med. 2004. PMID: 14733309 No abstract available.
Evaluation of methods to detect CALR mutations in myeloproliferative neoplasms.
Jones AV, Ward D, Lyon M, Leung W, Callaway A, Chase A, Dent CL, White HE, Drexler HG, Nangalia J, Mattocks C, Cross NC. Jones AV, et al. Among authors: mattocks c. Leuk Res. 2015 Jan;39(1):82-7. doi: 10.1016/j.leukres.2014.11.019. Epub 2014 Nov 29. Leuk Res. 2015. PMID: 25499808 Clinical Trial.
58 results