Lefeber, Dirk J.

Top Publications

Top Publications Authored or Co-Authored by "Lefeber, Dirk J."

• Impaired glycosylation and cutis laxa caused by mutations in the vesicular H⁺-ATPase subunit ATP6V0A2

  Nature Genetics, Volume 40, No. 1, Year 2008, Citations 340
• SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder

  Cell, Volume 142, No. 2, Year 2010, Citations 256
• Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

  Nature Genetics, Volume 44, No. 5, Year 2012, Citations 159
• Mutations in DDHD2, encoding an intracellular phospholipase A1, cause a recessive form of complex hereditary spastic paraplegia

  American Journal of Human Genetics, Volume 91, No. 6, Year 2012, Citations 143
• A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism

  Brain, Volume 133, No. 11, Year 2010, Citations 92