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Author Details

Peter E M Taschner
Leiden University Medical Center (LUMC)Leiden
1985
82
37
PMIDPaper TitleJournal TitlePublished Year
33538839Mutalyzer 2: next generation HGVS nomenclature checker.Bioinformatics2021
28026089Synonymous Somatic Variants in Human Cancer Are Not Infamous: A Plea for Full Disclosure in Databases and Publications.Hum Mutat2017
28254861Recommended Guidelines for Validation, Quality Control, and Reporting of <i>TP53</i> Variants in Clinical Practice.Cancer Res2017
26919176Human Variome Project Quality Assessment Criteria for Variation Databases.Hum Mutat2016
26312826A germline chromothripsis event stably segregating in 11 individuals through three generations.Genet Med2016
27492570Clinical Interpretation of Variants from Next-Generation Sequencing: The 2016 Scientific Meeting of the Human Genome Variation Society.Hum Mutat2016
26931183HGVS Recommendations for the Description of Sequence Variants: 2016 Update.Hum Mutat2016
26791113Pathogenicity Interpretation in the Age of Precision Medicine: The 2015 Annual Scientific Meeting of the Human Genome Variation Society.Hum Mutat2016
25666632Novel CLN3 mutation causing autophagic vacuolar myopathy.Neurology2015
26295439The Matchmaker Exchange: a platform for rare disease gene discovery.Hum Mutat2015
26231427An efficient algorithm for the extraction of HGVS variant descriptions from sequences.Bioinformatics2015
24729566Recommendations for analyzing and reporting TP53 gene variants in the high-throughput sequencing era.Hum Mutat2014
25093075Preserving sequence annotations across reference sequences.J Biomed Semantics2014
21990126Curating gene variant databases (LSDBs): toward a universal standard.Hum Mutat2012
23031277VarioML framework for comprehensive variation data representation and exchange.BMC Bioinformatics2012
22353939In search of triallelism in Bardet-Biedl syndrome.Eur J Hum Genet2012
21309030Describing structural changes by extending HGVS sequence variation nomenclature.Hum Mutat2011
21992071A formalized description of the standard human variant nomenclature in Extended Backus-Naur Form.BMC Bioinformatics2011
21520333LOVD v.2.0: the next generation in gene variant databases.Hum Mutat2011
20398331Locus Reference Genomic sequences: an improved basis for describing human DNA variants.Genome Med2010
19842214Deep sequencing to reveal new variants in pooled DNA samples.Hum Mutat2009
19956719Sdhd and SDHD/H19 knockout mice do not develop paraganglioma or pheochromocytoma.PLoS One2009
18000842Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker.Hum Mutat2008
18501720Caenorhabditis elegans as a model for lysosomal storage disorders.Biochim Biophys Acta2008
16405730Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma.BMC Med Genet2006
17049819Characterizing pathogenic processes in Batten disease: use of small eukaryotic model systems.Biochim Biophys Acta2006
15762191Increased prevalence of catecholamine excess and phaeochromocytomas in a well-defined Dutch population with SDHD-linked head and neck paragangliomas.Eur J Endocrinol2005
16435200Deletion of the Caenorhabditis elegans homologues of the CLN3 gene, involved in human juvenile neuronal ceroid lipofuscinosis, causes a mild progeric phenotype.J Inherit Metab Dis2005
16288654The SDH mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency.BMC Med Genet2005
15977173LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach.Hum Mutat2005
15731588Polymorphism of mu-opioid receptor gene (OPRM1:c.118A&gt;G) does not protect against opioid-induced respiratory depression despite reduced analgesic response.Anesthesiology2005
15730038[From gene to disease; from CLN1, CLN2 and CLN3 to neuronal ceroid lipofuscinosis].Ned Tijdschr Geneeskd2005
15064708Somatic loss of maternal chromosome 11 causes parent-of-origin-dependent inheritance in SDHD-linked paraganglioma and phaeochromocytoma families.Oncogene2004
15602946Carotid body tumors in humans caused by a mutation in the gene for succinate dehydrogenase D (SDHD).Adv Exp Med Biol2004
14695733Pharmacokinetic-pharmacodynamic modeling of morphine-6-glucuronide-induced analgesia in healthy volunteers: absence of sex differences.Anesthesiology2004
12782822Hereditary paraganglioma due to the SDHD M1I mutation in a second Chinese family: a founder effect?Laryngoscope2003
14595761SDHD mutations in head and neck paragangliomas result in destabilization of complex II in the mitochondrial respiratory chain with loss of enzymatic activity and abnormal mitochondrial morphology.J Pathol2003
12467161[From gene to disease; from SDHD, a defect in the respiratory chain, to paragangliomas and pheochromocytomas].Ned Tijdschr Geneeskd2002
11506414Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: first adult-onset patients of a childhood disease.Ann Neurol2001
11313745A high-resolution integrated map spanning the SDHD gene at 11q23: a 1.1-Mb BAC contig, a partial transcript map and 15 new repeat polymorphisms in a tumour-suppressor region.Eur J Hum Genet2001
11241534First-trimester diagnosis of late-infantile neuronal ceroid lipofuscinosis (LINCL) by tripeptidyl peptidase I assay and CLN2 mutation analysis.Prenat Diagn2001
11589012New mutations in the neuronal ceroid lipofuscinosis genes.Eur J Paediatr Neurol2001
11588981Caenorhabditis elegans homologues of the CLN3 gene, mutated in juvenile neuronal ceroid lipofuscinosis.Eur J Paediatr Neurol2001
11692162Phenotypic dichotomy in mitochondrial complex II genetic disorders.J Mol Med (Berl)2001
11391798Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene.Genes Chromosomes Cancer2001
11391796Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss.Genes Chromosomes Cancer2001
10657297Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma.Science2000
10527801Targeted disruption of the Cln3 gene provides a mouse model for Batten disease. The Batten Mouse Model Consortium [corrected].Neurobiol Dis1999
10416973First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysis.Prenat Diagn1999
10323245Repositioning the hereditary paraganglioma critical region on chromosome band 11q23.Hum Genet1999
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Collaborators

Leiden University Medical Center
Co-authored papers 11
Co-authored papers 7
University of Helsinki
Co-authored papers 5
National Institute for Public Health and the Environment
Co-authored papers 5
University of Leicester
Co-authored papers 5
Co-authored papers 4
CancerLinQ LLC, American Society of Clinical Oncology
Co-authored papers 3
National Center for Biotechnology Information, National Institutes of Health
Co-authored papers 3
Lund University
Co-authored papers 3
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Broad Institute of MIT and Harvard
Co-authored papers 2
Cleveland Institute for Computational Biology, Case Western Reserve University
Co-authored papers 2
Invitae Corporation
Co-authored papers 2
Queen Mary University of London
Co-authored papers 2
Co-authored papers 2
American Medical Informatics Association, Oregon Health and Science University, Oregon State University, University of Colorado Anschutz Medical Campus, University of North Carolina at Chapel Hill, University of Wisconsin-Madison
Co-authored papers 1
National Center for Biotechnology Information, National Institutes of Health
Co-authored papers 1
Leiden University Medical Center
Co-authored papers 1
Weizmann Institute of Science
Co-authored papers 1
Leiden University Medical Center
Co-authored papers 1
University of New South Wales
Co-authored papers 1
European Bioinformatics Institute
Co-authored papers 1
The University of Texas MD Anderson Cancer Center
Co-authored papers 1
University of Texas MD Anderson Cancer Center
Co-authored papers 1
Harvard Medical School
Co-authored papers 1
Center for Human and Clinical Genetics, Leiden University Medical Center
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Children's Hospital of Eastern Ontario
Co-authored papers 1
Leiden Institute for FAIR and Equitable Science
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University of California berkeley
Co-authored papers 1
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