Kornak, Uwe

Top Publications

Top Publications Authored or Co-Authored by "Kornak, Uwe"

• 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
• Mutations in WNT1 cause different forms of bone fragility

  American Journal of Human Genetics, Volume 92, No. 4, Year 2013, Citations 245
• Mutations in PYCR1 cause cutis laxa with progeroid features

  Nature Genetics, Volume 41, No. 9, Year 2009, Citations 230
• Mutations in PVRL4, Encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome

  American Journal of Human Genetics, Volume 87, No. 2, Year 2010, Citations 101
• Comprehensive Clinical and Molecular Analysis of 12 Families with Type 1 Recessive Cutis Laxa

  Human Mutation, Volume 34, No. 1, Year 2013, Citations 70