Buchert, Rebecca

Top Publications

Top Publications Authored or Co-Authored by "Buchert, Rebecca"

• Diagnostic yield and novel candidate genes by exome sequencing in 152 consanguineous families with neurodevelopmental disorders

  JAMA Psychiatry, Volume 74, No. 3, Year 2017, Citations 175
• AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability

  Nature Communications, Volume 8, Article 15910, Year 2017, Citations 58
• Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia

  American Journal of Human Genetics, Volume 107, No. 2, Year 2020, Citations 46
• 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 the transcription factor PAX7 are a new genetic cause of myopathy

  Genetics in Medicine, Volume 21, No. 11, Year 2019, Citations 36