List of works - Peter E Taschner

A germline chromothripsis event stably segregating in 11 individuals through three generations.

scientific article

Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: First adult-onset patients of a childhood disease

scientific article published on 01 August 2001

An efficient algorithm for the extraction of HGVS variant descriptions from sequences

scientific article published on 31 July 2015

Application of chromosome 16 markers in the differential diagnosis of neuronal ceroid-lipofuscinosis

Caenorhabditis elegans as a model for lysosomal storage disorders.

scientific article published on May 2008

Carrier detection of Batten disease (Juvenile neuronal ceroid-lipofuscinosis)

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

scientific article published on 21 August 2016

Curating gene variant databases (LSDBs): toward a universal standard

article

Deletion of the Caenorhabditis elegans homologues of the CLN3 gene, involved in human juvenile neuronal ceroid lipofuscinosis, causes a mild progeric phenotype.

scientific article published in January 2005

Describing structural changes by extending HGVS sequence variation nomenclature.

scientific article published on 15 March 2011

First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay andCLN1 mutation analysis

scientific article published on 01 June 1999

Genetic Heterogeneity of Neuronal Ceroid Lipofuscinosis in the Netherlands

Genetic Mapping of the Batten Disease Locus (CLN3) to the Interval D16S288-D16S383 by Analysis of Haplotypes and Allelic Association

scientific article published on 01 July 1994

Genomic structure and complete nucleotide sequence of the Batten disease gene, CLN3

scientific article (publication date: March 1997)

HGVS Recommendations for the Description of Sequence Variants: 2016 Update

scientific article

Hereditary paraganglioma due to the SDHD M1I mutation in a second Chinese family: a founder effect?

scientific article published in June 2003

Human Variome Project Quality Assessment Criteria for Variation Databases.

scientific article

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

scientific article

Increased prevalence of catecholamine excess and phaeochromocytomas in a well-defined Dutch population with SDHD-linked head and neck paragangliomas.

scientific article

Isolation of genes from the Batten candidate region using exon amplification. Batten Disease Consortium.

scientific article published on June 1995

Linkage of Gitelman syndrome to the thiazide-sensitive sodium-chloride cotransporter gene with identification of mutations in Dutch families

article

Locus Reference Genomic sequences: an improved basis for describing human DNA variants.

scientific article

Mutations in the gene-encoding SERCA1, the fast-twitch skeletal muscle sarcoplasmic reticulum Ca2+ ATPase, are associated with Brody disease

scientific article

Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits [published erratum appears in Hum Mol Genet 1998 Apr;7(4):765]

article

Novel CLN3 mutation causing autophagic vacuolar myopathy

scientific article published on 01 February 2015

Pathogenicity Interpretation in the Age of Precision Medicine: The 2015 Annual Scientific Meeting of the Human Genome Variation Society

scientific article published on 21 January 2016

Phenotypic dichotomy in mitochondrial complex II genetic disorders.

scientific article

Physical map of the region containing the gene for Batten disease (CLN3)

article

Plants transformed with a mutant alfalfa mosaic virus coat protein gene are resistant to the mutant but not to wild-type virus.

scientific article published in September 1994

Polymorphism of mu-opioid receptor gene (OPRM1:c.118A>G) does not protect against opioid-induced respiratory depression despite reduced analgesic response.

scientific article published in March 2005

Preserving sequence annotations across reference sequences

scientific article

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

scientific article published on 06 May 2014

Replicase-mediated resistance to alfalfa mosaic virus.

scientific article

SDHD 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.

scientific article published in November 2003

Sdhd and SDHD/H19 knockout mice do not develop paraganglioma or pheochromocytoma

scientific article

Somatic loss of maternal chromosome 11 causes parent-of-origin-dependent inheritance in SDHD-linked paraganglioma and phaeochromocytoma families.

scientific article published in May 2004

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

scientific article published on 27 December 2016

Targeted Disruption of the Cln3 Gene Provides a Mouse Model for Batten Disease

article

The Matchmaker Exchange: a platform for rare disease gene discovery

scientific article

VarioML framework for comprehensive variation data representation and exchange

scientific article (publication date: 3 October 2012)

YAC and Cosmid Contigs Spanning the Batten Disease (CLN3) Region at 16p12.1–p11.2

scientific article published on 01 September 1995

List of works by Peter E Taschner

A germline chromothripsis event stably segregating in 11 individuals through three generations.

Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: First adult-onset patients of a childhood disease

An efficient algorithm for the extraction of HGVS variant descriptions from sequences

Application of chromosome 16 markers in the differential diagnosis of neuronal ceroid-lipofuscinosis

Caenorhabditis elegans as a model for lysosomal storage disorders.

Carrier detection of Batten disease (Juvenile neuronal ceroid-lipofuscinosis)

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

Curating gene variant databases (LSDBs): toward a universal standard

Deletion of the Caenorhabditis elegans homologues of the CLN3 gene, involved in human juvenile neuronal ceroid lipofuscinosis, causes a mild progeric phenotype.

Describing structural changes by extending HGVS sequence variation nomenclature.

First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay andCLN1 mutation analysis

Genetic Heterogeneity of Neuronal Ceroid Lipofuscinosis in the Netherlands

Genetic Mapping of the Batten Disease Locus (CLN3) to the Interval D16S288-D16S383 by Analysis of Haplotypes and Allelic Association

Genomic structure and complete nucleotide sequence of the Batten disease gene, CLN3

HGVS Recommendations for the Description of Sequence Variants: 2016 Update

Hereditary paraganglioma due to the SDHD M1I mutation in a second Chinese family: a founder effect?

Human Variome Project Quality Assessment Criteria for Variation Databases.

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

Increased prevalence of catecholamine excess and phaeochromocytomas in a well-defined Dutch population with SDHD-linked head and neck paragangliomas.

Isolation of genes from the Batten candidate region using exon amplification. Batten Disease Consortium.

Linkage of Gitelman syndrome to the thiazide-sensitive sodium-chloride cotransporter gene with identification of mutations in Dutch families

Locus Reference Genomic sequences: an improved basis for describing human DNA variants.

Mutations in the gene-encoding SERCA1, the fast-twitch skeletal muscle sarcoplasmic reticulum Ca2+ ATPase, are associated with Brody disease

Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits [published erratum appears in Hum Mol Genet 1998 Apr;7(4):765]

Novel CLN3 mutation causing autophagic vacuolar myopathy

Pathogenicity Interpretation in the Age of Precision Medicine: The 2015 Annual Scientific Meeting of the Human Genome Variation Society

Phenotypic dichotomy in mitochondrial complex II genetic disorders.

Physical map of the region containing the gene for Batten disease (CLN3)

Plants transformed with a mutant alfalfa mosaic virus coat protein gene are resistant to the mutant but not to wild-type virus.

Polymorphism of mu-opioid receptor gene (OPRM1:c.118A>G) does not protect against opioid-induced respiratory depression despite reduced analgesic response.

Preserving sequence annotations across reference sequences

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

Replicase-mediated resistance to alfalfa mosaic virus.

SDHD 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.

Sdhd and SDHD/H19 knockout mice do not develop paraganglioma or pheochromocytoma

Somatic loss of maternal chromosome 11 causes parent-of-origin-dependent inheritance in SDHD-linked paraganglioma and phaeochromocytoma families.

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

Targeted Disruption of the Cln3 Gene Provides a Mouse Model for Batten Disease

The Matchmaker Exchange: a platform for rare disease gene discovery

VarioML framework for comprehensive variation data representation and exchange

YAC and Cosmid Contigs Spanning the Batten Disease (CLN3) Region at 16p12.1–p11.2