Gleeson, Joseph G.

Top Publications

Top Publications Authored or Co-Authored by "Gleeson, Joseph G."

• Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders

  Science, Volume 343, No. 6170, Year 2014, Citations 476
• 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
• Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia

  Brain, Volume 143, No. 10, Year 2020, Citations 88
• Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals

  Genetics in Medicine, Volume 25, No. 1, Year 2023, Citations 87
• Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

  Nature Communications, Volume 12, No. 1, Article 2558, Year 2021, Citations 70