Yang, Yaping

Top Publications

Top Publications Authored or Co-Authored by "Yang, Yaping"

• Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration

  EMBO Journal, Volume 37, No. 23, Article e100540, Year 2018, Citations 83
• Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features

  American Journal of Human Genetics, Volume 100, No. 4, Year 2017, Citations 67
• Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder

  Genetics in Medicine, Volume 24, No. 8, Year 2022, Citations 51
• MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia

  Annals of Neurology, Volume 89, No. 4, Year 2021, Citations 45
• Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy

  American Journal of Human Genetics, Volume 98, No. 6, Year 2016, Citations 41