Peter E M Taschner

Ontology type: schema:Person     

Person Info


Peter E M



Publications in SciGraph latest 50 shown

  • 2016-05 A germline chromothripsis event stably segregating in 11 individuals through three generations in GENETICS IN MEDICINE
  • 2014-06 Preserving sequence annotations across reference sequences in JOURNAL OF BIOMEDICAL SEMANTICS
  • 2012-12 VarioML framework for comprehensive variation data representation and exchange in BMC BIOINFORMATICS
  • 2012-04 In search of triallelism in Bardet–Biedl syndrome in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2011-12 A formalized description of the standard human variant nomenclature in Extended Backus-Naur Form in BMC BIOINFORMATICS
  • 2010-04 Locus Reference Genomic sequences: an improved basis for describing human DNA variants in GENOME MEDICINE
  • 2006-12 Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma in BMC MEDICAL GENETICS
  • 2005-12 The SDH mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency in BMC MEDICAL GENETICS
  • 2004-05 Somatic loss of maternal chromosome 11 causes parent-of-origin-dependent inheritance in SDHD-linked paraganglioma and phaeochromocytoma families in ONCOGENE
  • 2004 Carotid Body Tumors in Humans Caused by a Mutation in the Gene for Succinate Dehydrogenase D (SDHD) in POST-GENOMIC PERSPECTIVES IN MODELING AND CONTROL OF BREATHING
  • 2001-09 Phenotypic dichotomy in mitochondrial complex II genetic disorders in JOURNAL OF MOLECULAR MEDICINE
  • 2001-02 A 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 in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 1999-04 Repositioning the hereditary paraganglioma critical region on chromosome band 11q23 in HUMAN GENETICS
  • 1996-10 Mutations in the gene–encoding SERCA1, the fast–twitch skeletal muscle sarcoplasmic reticulum Ca2+ ATPase, are associated with Brody disease in NATURE GENETICS
  • 1996-08 Linkage of Gitelman syndrome to the thiazide-sensitive sodium-chloride cotransporter gene with identification of mutations in Dutch families in PEDIATRIC NEPHROLOGY
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