Fischer, Björn

Top Publications

Top Publications Authored or Co-Authored by "Fischer, Björn"

• 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
• Faulty initiation of proteoglycan synthesis causes cardiac and joint defects

  American Journal of Human Genetics, Volume 89, No. 1, Year 2011, Citations 111
• Mutations causing Greenberg dysplasia but not pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane protein

  Nucleus, Volume 1, No. 4, Year 2010, Citations 47