Mundlos, Stefan

Top Publications

Top Publications Authored or Co-Authored by "Mundlos, Stefan"

• Formation of new chromatin domains determines pathogenicity of genomic duplications

  Nature, Volume 538, No. 7624, Year 2016, Citations 528
• 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 the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux

  American Journal of Human Genetics, Volume 75, No. 1, Year 2004, Citations 333
• Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome

  American Journal of Human Genetics, Volume 80, No. 2, Year 2007, Citations 309
• Mutations in WNT1 cause different forms of bone fragility

  American Journal of Human Genetics, Volume 92, No. 4, Year 2013, Citations 245