Jin, Sheng Chih

Top Publications

Top Publications Authored or Co-Authored by "Jin, Sheng Chih"

• Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia

  Brain, Volume 144, No. 5, Year 2021, Citations 100
• Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus

  Nature Medicine, Volume 26, No. 11, Year 2020, Citations 78
• Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia

  Annals of Neurology, Volume 92, No. 2, Year 2022, Citations 65
• Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy

  Genetics in Medicine, Volume 23, No. 12, Year 2021, Citations 28
• Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

  American Journal of Human Genetics, Volume 108, No. 10, Year 2021, Citations 10