Santer, René

Top Publications

Top Publications Authored or Co-Authored by "Santer, René"

• Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder

  Brain, Volume 143, No. 8, Year 2020, Citations 100
• Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire

  Genetics in Medicine, Volume 24, No. 8, Year 2022, Citations 64
• Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants

  Genetics in Medicine, Volume 25, No. 6, Article 100314, Year 2023, Citations 61
• Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases

  Annals of Neurology, Volume 82, No. 6, Year 2017, Citations 58
• Eyes on MEGDEL: Distinctive basal ganglia involvement in dystonia deafness syndrome

  Neuropediatrics, Volume 46, No. 2, Year 2015, Citations 32