Patton S - Search Results

1

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.

2

Experience and outcome of 3 years of a European EQA scheme for genetic testing of the spinocerebellar ataxias.

Seneca S, Morris MA, Patton S, Elles R, Sequeiros J. Seneca S, et al. Among authors: patton s. Eur J Hum Genet. 2008 Aug;16(8):913-20. doi: 10.1038/ejhg.2008.29. Epub 2008 Feb 27. Eur J Hum Genet. 2008. PMID: 18301445

3

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

4

Guidance for laboratories performing molecular pathology for cancer patients.

Cree IA, Deans Z, Ligtenberg MJ, Normanno N, Edsjö A, Rouleau E, Solé F, Thunnissen E, Timens W, Schuuring E, Dequeker E, Murray S, Dietel M, Groenen P, Van Krieken JH; European Society of Pathology Task Force on Quality Assurance in Molecular Pathology; Royal College of Pathologists. Cree IA, et al. J Clin Pathol. 2014 Nov;67(11):923-31. doi: 10.1136/jclinpath-2014-202404. Epub 2014 Jul 10. J Clin Pathol. 2014. PMID: 25012948 Free PMC article. Review.

5

Continental drift? Do European clinical genetic testing laboratories have a patent problem?

Liddicoat J, Liddell K, McCarthy AH, Hogarth S, Aboy M, Nicol D, Patton S, Hopkins MM. Liddicoat J, et al. Among authors: patton s. Eur J Hum Genet. 2019 Jul;27(7):997-1007. doi: 10.1038/s41431-019-0368-7. Epub 2019 Mar 7. Eur J Hum Genet. 2019. PMID: 30846855 Free PMC article.

6

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.

7

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.

8

Evaluation of current genetic testing reports in German-speaking countries with regard to secondary use and future electronic implementation.

Radke TF, Patton SJ, Pantazoglou E, Sass J, Thun S. Radke TF, et al. Among authors: patton sj. Eur J Hum Genet. 2020 May;28(5):558-566. doi: 10.1038/s41431-020-0586-z. Epub 2020 Feb 13. Eur J Hum Genet. 2020. PMID: 32055015 Free PMC article.

9

Reply to C.D. Richter.

Liddicoat J, Liddell K, McCarthy AH, Hogarth S, Aboy M, Nicol D, Patton S, Hopkins MM. Liddicoat J, et al. Among authors: patton s. Eur J Hum Genet. 2020 May;28(5):537-538. doi: 10.1038/s41431-020-0588-x. Epub 2020 Feb 17. Eur J Hum Genet. 2020. PMID: 32066933 Free PMC article. No abstract available.

10

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

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