Efthymiou, Stephanie

Top Publications

Top Publications Authored or Co-Authored by "Efthymiou, Stephanie"

• AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

  Nature Communications, Volume 10, No. 1, Article 3094, Year 2019, Citations 120
• Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia

  Genetics in Medicine, Volume 25, No. 1, Year 2023, Citations 100
• Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies

  Genetics in Medicine, Volume 23, No. 11, Year 2021, Citations 100
• Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia

  Brain, Volume 144, No. 5, Year 2021, Citations 100
• Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders

  Nature Communications, Volume 14, No. 1, Article 4109, Year 2023, Citations 100