Patton S - Search Results

1

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: patton s. Hum Mutat. 2017 Aug;38(8):912-921. doi: 10.1002/humu.23238. Epub 2017 Jun 16. Hum Mutat. 2017. PMID: 28471515 Review.

2

What's in a Name? A Coordinated Approach toward the Correct Use of a Uniform Nomenclature to Improve Patient Reports and Databases.

Tack V, Deans ZC, Wolstenholme N, Patton S, Dequeker EM. Tack V, et al. Among authors: patton s. Hum Mutat. 2016 Jun;37(6):570-5. doi: 10.1002/humu.22975. Epub 2016 Mar 14. Hum Mutat. 2016. PMID: 26920083

3

One byte at a time: evidencing the quality of clinical service next-generation sequencing for germline and somatic variants.

Gutowska-Ding MW, Deans ZC, Roos C, Matilainen J, Khawaja F, Brügger K, Ahn JW, Boustred C, Patton SJ. Gutowska-Ding MW, et al. Eur J Hum Genet. 2020 Feb;28(2):202-212. doi: 10.1038/s41431-019-0515-1. Epub 2019 Sep 30. Eur J Hum Genet. 2020. PMID: 31570784 Free PMC article.

4

Tumor mutation burden testing: a survey of the International Quality Network for Pathology (IQN Path).

Fenizia F, Wolstenholme N, Fairley JA, Rouleau E, Cheetham MH, Horan MP, Torlakovic E, Besse B, Al Dieri R, Tiniakos DG, Deans ZC, Patton SJ, Normanno N. Fenizia F, et al. Virchows Arch. 2021 Dec;479(6):1067-1072. doi: 10.1007/s00428-021-03093-7. Epub 2021 Apr 15. Virchows Arch. 2021. PMID: 33856555 Free PMC article.

5

Expert opinion on NSCLC small specimen biomarker testing - Part 2: Analysis, reporting, and quality assessment.

Penault-Llorca F, Kerr KM, Garrido P, Thunnissen E, Dequeker E, Normanno N, Patton SJ, Fairley J, Kapp J, de Ridder D, Ryška A, Moch H. Penault-Llorca F, et al. Virchows Arch. 2022 Sep;481(3):351-366. doi: 10.1007/s00428-022-03344-1. Epub 2022 Jul 20. Virchows Arch. 2022. PMID: 35857103 Free PMC article. Review.

6

A comparative study of germline BRCA1 and BRCA2 mutation screening methods in use in 20 European clinical diagnostic laboratories.

Ellison G, Wallace A, Kohlmann A, Patton S. Ellison G, et al. Among authors: patton s. Br J Cancer. 2017 Aug 22;117(5):710-716. doi: 10.1038/bjc.2017.223. Epub 2017 Jul 27. Br J Cancer. 2017. PMID: 28751759 Free PMC article.

7

Current practices for the genetic diagnosis of autoinflammatory diseases: results of a European Molecular Genetics Quality Network Survey.

Rowczenio D, Shinar Y, Ceccherini I, Sheils K, Van Gijn M, Patton SJ, Touitou I. Rowczenio D, et al. Eur J Hum Genet. 2019 Oct;27(10):1502-1508. doi: 10.1038/s41431-019-0439-9. Epub 2019 Jun 11. Eur J Hum Genet. 2019. PMID: 31186541 Free PMC article.

8

EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH).

Porto G, Brissot P, Swinkels DW, Zoller H, Kamarainen O, Patton S, Alonso I, Morris M, Keeney S. Porto G, et al. Among authors: patton s. Eur J Hum Genet. 2016 Apr;24(4):479-95. doi: 10.1038/ejhg.2015.128. Epub 2015 Jul 8. Eur J Hum Genet. 2016. PMID: 26153218 Free PMC article.

9

Monitoring standards for molecular genetic testing in the United Kingdom, the Netherlands, and Ireland.

Ramsden SC, Deans Z, Robinson DO, Mountford R, Sistermans EA, Grody WW, McQuaid S, Patton SJ, Stenhouse SA. Ramsden SC, et al. Among authors: patton sj. Genet Test. 2006 Fall;10(3):147-56. doi: 10.1089/gte.2006.10.147. Genet Test. 2006. PMID: 17020464

10

Guideline on the requirements of external quality assessment programs in molecular pathology.

van Krieken JH, Normanno N, Blackhall F, Boone E, Botti G, Carneiro F, Celik I, Ciardiello F, Cree IA, Deans ZC, Edsjö A, Groenen PJ, Kamarainen O, Kreipe HH, Ligtenberg MJ, Marchetti A, Murray S, Opdam FJ, Patterson SD, Patton S, Pinto C, Rouleau E, Schuuring E, Sterck S, Taron M, Tejpar S, Timens W, Thunnissen E, van de Ven PM, Siebers AG, Dequeker E. van Krieken JH, et al. Among authors: patton s. Virchows Arch. 2013 Jan;462(1):27-37. doi: 10.1007/s00428-012-1354-4. Epub 2012 Dec 19. Virchows Arch. 2013. PMID: 23250354

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