Borck, Guntram

Top Publications

Top Publications Authored or Co-Authored by "Borck, Guntram"

• Mutation Spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and Genotype-Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome

  Human Mutation, Volume 34, No. 5, Year 2013, Citations 116
• Genome-wide meta-analysis identifies new susceptibility loci for migraine

  Nature Genetics, Volume 45, No. 8, Year 2013, Citations 95
• A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss

  American Journal of Human Genetics, Volume 91, No. 5, Year 2012, Citations 83
• Arterial rupture in classic Ehlers-Danlos syndrome with COL5A1 mutation

  American Journal of Medical Genetics, Part A, Volume 152, No. 8, Year 2010, Citations 56
• Deficiency for the ubiquitin ligase ube3b in a blepharophimosis-ptosis- intellectual-disability syndrome

  American Journal of Human Genetics, Volume 91, No. 6, Year 2012, Citations 36