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
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2129
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Recent Articles
11.
Fokkema I, Taschner P, Schaafsma G, Celli J, Laros J, den Dunnen J
Hum Mutat
. 2011 Apr;
32(5):557-63.
PMID: 21520333
Locus-Specific DataBases (LSDBs) store information on gene sequence variation associated with human phenotypes and are frequently used as a reference by researchers and clinicians. We developed the Leiden Open-source Variation...
12.
Taschner P, den Dunnen J
Hum Mutat
. 2011 Feb;
32(5):507-11.
PMID: 21309030
New technologies allow rapid discovery of novel sequence variants among which those involving complex structural rearrangements. The description of such complex variants challenges the existing standard sequence variation nomenclature of...
13.
Bayley J, van Minderhout I, Hogendoorn P, Cornelisse C, van der Wal A, Prins F, et al.
PLoS One
. 2009 Dec;
4(11):e7987.
PMID: 19956719
Background: Mitochondrial succinate dehydrogenase (SDH) is a component of both the tricarboxylic acid cycle and the electron transport chain. Mutations of SDHD, the first protein of intermediary metabolism shown to...
14.
Out A, van Minderhout I, Goeman J, Ariyurek Y, Ossowski S, Schneeberger K, et al.
Hum Mutat
. 2009 Oct;
30(12):1703-12.
PMID: 19842214
We evaluated massive parallel sequencing and long-range PCR (LRP) for rare variant detection and allele frequency estimation in pooled DNA samples. Exons 2 to 16 of the MUTYH gene were...
15.
de Voer G, Peters D, Taschner P
Biochim Biophys Acta
. 2008 May;
1782(7-8):433-46.
PMID: 18501720
The nematode Caenorhabditis elegans is the simplest animal model available to study human disease. In this review, the worm homologues for the 58 human genes involved in lysosomal storage disorders...
16.
Wildeman M, van Ophuizen E, den Dunnen J, Taschner P
Hum Mutat
. 2007 Nov;
29(1):6-13.
PMID: 18000842
Unambiguous and correct sequence variant descriptions are of utmost importance, not in the least since mistakes and uncertainties may lead to undesired errors in clinical diagnosis. We developed the Mutation...
17.
Phillips S, Muzaffar N, Codlin S, Korey C, Taschner P, de Voer G, et al.
Biochim Biophys Acta
. 2006 Oct;
1762(10):906-19.
PMID: 17049819
The neuronal ceroid lipofuscinoses (NCLs) are neurodegenerative disorders. Nevertheless, small model organisms, including those lacking a nervous system, have proven invaluable in the study of mechanisms that underlie the disease...
18.
Bayley J, van Minderhout I, Weiss M, Jansen J, Oomen P, Menko F, et al.
BMC Med Genet
. 2006 Jan;
7:1.
PMID: 16405730
Background: Germline mutations of the SDHD, SDHB and SDHC genes, encoding three of the four subunits of succinate dehydrogenase, are a major cause of hereditary paraganglioma and pheochromocytoma, and demonstrate...
19.
Bayley J, Devilee P, Taschner P
BMC Med Genet
. 2005 Nov;
6:39.
PMID: 16288654
Background: The SDHA, SDHB, SDHC and SDHD genes encode the subunits of succinate dehydrogenase (succinate: ubiquinone oxidoreductase), a component of both the Krebs cycle and the mitochondrial respiratory chain. SDHA,...
20.
Fokkema I, den Dunnen J, Taschner P
Hum Mutat
. 2005 Jun;
26(2):63-8.
PMID: 15977173
The completion of the human genome project has initiated, as well as provided the basis for, the collection and study of all sequence variation between individuals. Direct access to up-to-date...