Joubert Syndrome has an active research community with 97 publications classified from a 24-month PubMed sample, with a focus on case report research.
Based on a 24-month sample. This number grows as we discover and classify more research.
Distribution within our current sample
Year-over-year: +61% (comparing 2024 vs 2025 within this sample)
58 new research groups published for the first time in the last 12 months.
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Mathews E et al. · Progress in rehabilitation medicine · 2026
He R et al. · The Journal of clinical investigation · 2026
Boutaud L et al. · Clinical genetics · 2026
Ferrão T et al. · Cureus · 2025