Taschner PE - Search Results

1

Recommendations for analyzing and reporting TP53 gene variants in the high-throughput sequencing era.

Soussi T, Leroy B, Taschner PE. Soussi T, et al. Among authors: taschner pe. Hum Mutat. 2014 Jun;35(6):766-78. doi: 10.1002/humu.22561. Epub 2014 May 6. Hum Mutat. 2014. PMID: 24729566 Review.

2

Synonymous Somatic Variants in Human Cancer Are Not Infamous: A Plea for Full Disclosure in Databases and Publications.

Soussi T, Taschner PE, Samuels Y. Soussi T, et al. Among authors: taschner pe. Hum Mutat. 2017 Apr;38(4):339-342. doi: 10.1002/humu.23163. Epub 2017 Feb 2. Hum Mutat. 2017. PMID: 28026089 Free article.

3

Recommended Guidelines for Validation, Quality Control, and Reporting of TP53 Variants in Clinical Practice.

Leroy B, Ballinger ML, Baran-Marszak F, Bond GL, Braithwaite A, Concin N, Donehower LA, El-Deiry WS, Fenaux P, Gaidano G, Langerød A, Hellstrom-Lindberg E, Iggo R, Lehmann-Che J, Mai PL, Malkin D, Moll UM, Myers JN, Nichols KE, Pospisilova S, Ashton-Prolla P, Rossi D, Savage SA, Strong LC, Tonin PN, Zeillinger R, Zenz T, Fraumeni JF Jr, Taschner PE, Hainaut P, Soussi T. Leroy B, et al. Among authors: taschner pe. Cancer Res. 2017 Mar 15;77(6):1250-1260. doi: 10.1158/0008-5472.CAN-16-2179. Cancer Res. 2017. PMID: 28254861 Free PMC article. Review.

4

Clinical Interpretation of Variants from Next-Generation Sequencing: The 2016 Scientific Meeting of the Human Genome Variation Society.

Oetting WS, Brookes AJ, Béroud C, Taschner PE. Oetting WS, et al. Among authors: taschner pe. Hum Mutat. 2016 Oct;37(10):1110-3. doi: 10.1002/humu.23059. Epub 2016 Aug 21. Hum Mutat. 2016. PMID: 27492570

5

HGVS Recommendations for the Description of Sequence Variants: 2016 Update.

den Dunnen JT, Dalgleish R, Maglott DR, Hart RK, Greenblatt MS, McGowan-Jordan J, Roux AF, Smith T, Antonarakis SE, Taschner PE. den Dunnen JT, et al. Among authors: taschner pe. Hum Mutat. 2016 Jun;37(6):564-9. doi: 10.1002/humu.22981. Epub 2016 Mar 25. Hum Mutat. 2016. PMID: 26931183

6

Human Variome Project Quality Assessment Criteria for Variation Databases.

Vihinen M, Hancock JM, Maglott DR, Landrum MJ, Schaafsma GC, Taschner P. Vihinen M, et al. Hum Mutat. 2016 Jun;37(6):549-58. doi: 10.1002/humu.22976. Epub 2016 Mar 21. Hum Mutat. 2016. PMID: 26919176 Free PMC article.

7

LOVD v.2.0: the next generation in gene variant databases.

Fokkema IF, Taschner PE, Schaafsma GC, Celli J, Laros JF, den Dunnen JT. Fokkema IF, et al. Among authors: taschner pe. Hum Mutat. 2011 May;32(5):557-63. doi: 10.1002/humu.21438. Epub 2011 Feb 22. Hum Mutat. 2011. PMID: 21520333

8

Deep sequencing to reveal new variants in pooled DNA samples.

Out AA, van Minderhout IJ, Goeman JJ, Ariyurek Y, Ossowski S, Schneeberger K, Weigel D, van Galen M, Taschner PE, Tops CM, Breuning MH, van Ommen GJ, den Dunnen JT, Devilee P, Hes FJ. Out AA, et al. Among authors: taschner pe. Hum Mutat. 2009 Dec;30(12):1703-12. doi: 10.1002/humu.21122. Hum Mutat. 2009. PMID: 19842214

9

Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker.

Wildeman M, van Ophuizen E, den Dunnen JT, Taschner PE. Wildeman M, et al. Among authors: taschner pe. Hum Mutat. 2008 Jan;29(1):6-13. doi: 10.1002/humu.20654. Hum Mutat. 2008. PMID: 18000842

10

Describing structural changes by extending HGVS sequence variation nomenclature.

Taschner PE, den Dunnen JT. Taschner PE, et al. Hum Mutat. 2011 May;32(5):507-11. doi: 10.1002/humu.21427. Epub 2011 Mar 15. Hum Mutat. 2011. PMID: 21309030

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