Kutsche, Kerstin

Top Publications

Top Publications Authored or Co-Authored by "Kutsche, Kerstin"

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

  Brain, Volume 143, No. 8, Year 2020, Citations 100
• BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients

  European Journal of Human Genetics, Volume 31, No. 9, Year 2023, Citations 90
• Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism

  American Journal of Human Genetics, Volume 100, No. 1, Year 2017, Citations 58
• Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation

  Brain, Volume 145, No. 4, Year 2022, Citations 15
• Clinically Relevant KCNQ1 Variants Causing KCNQ1-KCNE2 Gain-of-Function Affect the Ca²⁺ Sensitivity of the Channel

  International Journal of Molecular Sciences, Volume 23, No. 17, Article 9690, Year 2022, Citations 8