Seibt, Annette

Top Publications

Top Publications Authored or Co-Authored by "Seibt, Annette"

• De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects

  American Journal of Human Genetics, Volume 107, No. 2, Year 2020, Citations 92
• Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes

  Journal of medical genetics, Volume 59, No. 9, Year 2022, Citations 37
• Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence

  Genetics in Medicine, Volume 25, No. 7, Article 100836, Year 2023, Citations 31
• Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities

  American Journal of Human Genetics, Volume 106, No. 2, Year 2020, Citations 25