Hempel, Maja

Top Publications

Top Publications Authored or Co-Authored by "Hempel, Maja"

• Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

  Brain, Volume 140, No. 5, Year 2017, Citations 390
• Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder

  Brain, Volume 143, No. 8, Year 2020, Citations 100
• Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion

  Journal of Medical Genetics, Volume 49, No. 2, Year 2012, Citations 82
• Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders

  Genetics in Medicine, Volume 25, No. 8, Article 100885, Year 2023, Citations 64
• Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder

  Clinical Genetics, Volume 102, No. 2, Year 2022, Citations 57