Abhyankar, Avinash

Top Publications

Top Publications Authored or Co-Authored by "Abhyankar, Avinash"

• Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis

  Journal of Experimental Medicine, Volume 208, No. 18, Year 2011, Citations 733
• Mycobacterial disease and impaired IFN-γ immunity in humans with inherited ISG15 deficiency

  Science, Volume 337, No. 6102, Year 2012, Citations 450
• Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

  Neuron, Volume 97, No. 6, Year 2018, Citations 398
• Mutations in the TGFβb binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias

  American Journal of Human Genetics, Volume 89, No. 1, Year 2011, Citations 204
• Dominant-negative STAT1 SH2 domain mutations in unrelated patients with mendelian susceptibility to mycobacterial disease

  Human Mutation, Volume 33, No. 9, Year 2012, Citations 75