Bönnemann, Carsten G.

Top Publications

Top Publications Authored or Co-Authored by "Bönnemann, Carsten G."

• Mutations in the dystrophin-associated protein γ-sarcoglycan in chromosome 13 muscular dystrophy

  Science, Volume 270, No. 5237, Year 1995, Citations 486
• Cowchock syndrome is associated with a mutation in apoptosis-inducing factor

  American Journal of Human Genetics, Volume 91, No. 6, Year 2012, Citations 127
• Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration

  EMBO Journal, Volume 37, No. 23, Article e100540, Year 2018, Citations 83
• Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

  Nature Communications, Volume 12, No. 1, Article 2558, Year 2021, Citations 70
• A form of muscular dystrophy associated with pathogenic variants in JAG2

  American Journal of Human Genetics, Volume 108, No. 5, Year 2021, Citations 58