Peter E M Taschner
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Explore the profile of Peter E M Taschner including associated specialties, affiliations and a list of published articles.
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25
Citations
2129
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0
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Recent Articles
1.
Lefter M, Vis J, Vermaat M, den Dunnen J, Taschner P, Laros J
Bioinformatics
. 2021 Feb;
37(18):2811-2817.
PMID: 33538839
Motivation: Unambiguous variant descriptions are of utmost importance in clinical genetic diagnostics, scientific literature and genetic databases. The Human Genome Variation Society (HGVS) publishes a comprehensive set of guidelines on...
2.
Leroy B, Ballinger M, Baran-Marszak F, Bond G, Braithwaite A, Concin N, et al.
Cancer Res
. 2017 Mar;
77(6):1250-1260.
PMID: 28254861
Accurate assessment of gene status in sporadic tumors and in the germline of individuals at high risk of cancer due to Li-Fraumeni Syndrome (LFS) has important clinical implications for diagnosis,...
3.
Soussi T, Taschner P, Samuels Y
Hum Mutat
. 2016 Dec;
38(4):339-342.
PMID: 28026089
Single-nucleotide variants (SNVs) are the most frequent genetic changes found in human cancer. Most driver alterations are missense and nonsense variants localized in the coding region of cancer genes. Unbiased...
4.
den Dunnen J, Dalgleish R, Maglott D, Hart R, Greenblatt M, McGowan-Jordan J, et al.
Hum Mutat
. 2016 Mar;
37(6):564-9.
PMID: 26931183
The consistent and unambiguous description of sequence variants is essential to report and exchange information on the analysis of a genome. In particular, DNA diagnostics critically depends on accurate and...
5.
Bertelsen B, Nazaryan-Petersen L, Sun W, Mehrjouy M, Xie G, Chen W, et al.
Genet Med
. 2015 Aug;
18(5):494-500.
PMID: 26312826
Purpose: Parentally transmitted germ-line chromothripsis (G-CTH) has been identified in only a few cases. Most of these rearrangements were stably transmitted, in an unbalanced form, from a healthy mother to...
6.
Vis J, Vermaat M, Taschner P, Kok J, Laros J
Bioinformatics
. 2015 Aug;
31(23):3751-7.
PMID: 26231427
Motivation: Unambiguous sequence variant descriptions are important in reporting the outcome of clinical diagnostic DNA tests. The standard nomenclature of the Human Genome Variation Society (HGVS) describes the observed variant...
7.
Recommendations for analyzing and reporting TP53 gene variants in the high-throughput sequencing era
Soussi T, Leroy B, Taschner P
Hum Mutat
. 2014 Apr;
35(6):766-78.
PMID: 24729566
The architecture of TP53, the most frequently mutated gene in human cancer, is more complex than previously thought. Using TP53 variants as clinical biomarkers to predict response to treatment or...
8.
Abu-Safieh L, Al-Anazi S, Al-Abdi L, Hashem M, Alkuraya H, Alamr M, et al.
Eur J Hum Genet
. 2012 Feb;
20(4):420-7.
PMID: 22353939
Bardet-Biedl syndrome (BBS) is a model disease for ciliopathy in humans. The remarkable genetic heterogeneity that characterizes this disease is consistent with accumulating data on the interaction between the proteins...
9.
Laros J, Blavier A, den Dunnen J, Taschner P
BMC Bioinformatics
. 2011 Oct;
12 Suppl 4:S5.
PMID: 21992071
Background: The use of a standard human sequence variant nomenclature is advocated by the Human Genome Variation Society in order to unambiguously describe genetic variants in databases and literature. There...
10.
Celli J, Dalgleish R, Vihinen M, Taschner P, den Dunnen J
Hum Mutat
. 2011 Oct;
33(2):291-7.
PMID: 21990126
Gene variant databases or Locus-Specific DataBases (LSDBs) are used to collect and display information on sequence variants on a gene-by-gene basis. Their most frequent use is in relation to DNA-based...