Reetta‐Stiina Järvinen

Keratoendotheliitis Fugax Hereditaria: A Novel Cryopyrin-Associated Periodic Syndrome Caused by a Mutation in the Nucleotide-Binding Domain, Leucine-Rich Repeat Family, Pyrin Domain-Containing 3 (NLRP3) Gene

Joni A. Turunen, Juho Wedenoja, Pauliina Repo et al. · American Journal of Ophthalmology · 2018 · 33 citations · Full text

Population-based analysis of BAP1 germline variations in patients with uveal melanoma

Pauliina Repo, Reetta‐Stiina Järvinen, Johannes E. Jäntti et al. · Human Molecular Genetics · 2019 · 22 citations

Pathogenic Germline Variants, Genetics, Pathology +18

Germline loss‐of‐function variants in <i>MBD4</i> are rare in Finnish patients with uveal melanoma

Pauliina Repo, Johannes E. Jäntti, Reetta‐Stiina Järvinen et al. · Pigment Cell & Melanoma Research · 2020 · 19 citations

In Vivo Corneal Confocal Microscopy and Histopathology of Keratitis Fugax Hereditaria From a Pathogenic Variant in NLRP3

Joni A. Turunen, Annamari Immonen, Reetta‐Stiina Järvinen et al. · American Journal of Ophthalmology · 2020 · 11 citations · Full text