Rudnik-Schöneborn, Sabine S.

Top Publications

Top Publications Authored or Co-Authored by "Rudnik-Schöneborn, Sabine S."

• Mutations in the gene encoding immunoglobulin μ-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1

  Nature Genetics, Volume 29, No. 1, Year 2001, Citations 301
• Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

  Genetics in Medicine, Volume 22, No. 9, Year 2020, Citations 99
• 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
• Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies

  American Journal of Human Genetics, Volume 99, No. 3, Year 2016, Citations 45