Tarnopolsky, Mark A.

Top Publications

Top Publications Authored or Co-Authored by "Tarnopolsky, Mark A."

• The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders

  Brain, Volume 146, No. 8, Year 2023, Citations 100
• Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism

  American Journal of Human Genetics, Volume 100, No. 1, Year 2017, Citations 58
• Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy

  Journal of Clinical Investigation, Volume 129, No. 3, Year 2019, Citations 58
• Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia

  American Journal of Human Genetics, Volume 98, No. 4, Year 2016, Citations 24
• ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies

  American Journal of Human Genetics, Volume 108, No. 10, Year 2021, Citations 23