Pauliina E Repo (Pauliina Repo)

Publication Activity (10 Years)

Years Active: 2020-2023
Publications (10 Years): 5

Top Topics

Age Related Macular Degeneration

Muscular Dystrophy

Lymph Node Metastasis

Top Venues

Acta ophthalmologica

Human molecular genetics

Clinical genetics

Pigment cell & melanoma research

This page only lists publications with an associated author ORCID identifier.

Publications

Perttu J Liuska, Abdessallam Tadji, Pauliina E Repo, Juho Hiltunen, Michael Paul Backlund, Reetta-Stiina Järvinen, Eeva Ojanen, Anna Majander, Tero Tapani Kivelä, Mika Harju, Joni Antero Turunen
Analysis of glaucoma genes in Finnish patients with juvenile open-angle glaucoma. Acta ophthalmologica (2023)
Joni Antero Turunen, Ilpo S Tuisku, Pauliina E Repo, Sanna Mörtenhumer, Sabita Kawan, Reetta-Stiina Järvinen, Anna Korsbäck, Annamari T Immonen, Tero Tapani Kivelä
Epithelial recurrent erosion dystrophy (ERED) from the splice site altering COL17A1 variant c.3156C>T in families of Finnish-Swedish ancestry. Acta ophthalmologica (2023)
Pauliina E Repo, Michael P Backlund, Tero T Kivelä, Joni Antero Turunen
Functional assay for assessment of pathogenicity of BAP1 variants. Human molecular genetics (2023)
Pauliina E Repo, Johannes E Jäntti, Reetta-Stiina Järvinen, Elina S Rantala, Martin Täll, Virpi Raivio, Tero Tapani Kivelä, Joni A Turunen
Germline loss-of-function variants in MBD4 are rare in Finnish patients with uveal melanoma. Pigment cell & melanoma research 33 (5) (2020)
Pauliina E Repo, Reetta-Stiina Järvinen, Eeva-Marja Sankila, Maarjaliis Paavo, Pekka Ellonen, Tero T Kivelä, Joni A Turunen
Identifying haplotypes in recessive inherited retinal dystrophies using whole-genome linked-read sequencing. Clinical genetics 99 (1) (2020)