Gissen, Paul

Top Publications

Top Publications Authored or Co-Authored by "Gissen, Paul"

• The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat

  Nature Genetics, Volume 38, No. 2, Year 2006, Citations 286
• Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

  Nature Genetics, Volume 37, No. 3, Year 2005, Citations 222
• Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia

  Nature Communications, Volume 7, Article 11601, Year 2016, Citations 212
• Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency

  Journal of Medical Genetics, Volume 49, No. 9, Year 2012, Citations 109
• Gene therapy for monogenic liver diseases: clinical successes, current challenges and future prospects

  Journal of Inherited Metabolic Disease, Volume 40, No. 4, Year 2017, Citations 83