Budde, Birgit Susanne

Top Publications

Top Publications Authored or Co-Authored by "Budde, Birgit Susanne"

• 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 PYCR1 cause cutis laxa with progeroid features

  Nature Genetics, Volume 41, No. 9, Year 2009, Citations 230
• Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies

  Genetics in Medicine, Volume 23, No. 11, Year 2021, Citations 100
• Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome

  Journal of Clinical Investigation, Volume 128, No. 10, Year 2018, Citations 73
• Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signaling

  Genetics in Medicine, Volume 24, No. 8, Year 2022, Citations 25