Joni Antero Turunen (Joni A Turunen)

Publication Activity (10 Years)

Years Active: 2020-2023
Publications (10 Years): 8

Top Topics

Circulating Tumor Cells

Genome Wide Association Study

Diabetic Retinopathy

Intellectual Disability

Top Venues

Acta ophthalmologica

The British journal of ophthalmology

Human molecular genetics

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)
Sabita Kawan, Michael Paul Backlund, Annamari Tuulia Immonen, Tero Tapani Kivelä, Joni Antero Turunen
Functional consequences of pathogenic variant c.61G>C in the inflammasome gene NLRP3 underlying keratitis fugax hereditaria. The British journal of ophthalmology (2022)
Anna Majander, Eeva-Marja Sankila, Aura Falck, Laura Kristiina Vasara, Sanna Seitsonen, Maarit Kulmala, Anna-Kaisa Haavisto, Kristiina Avela, Joni Antero Turunen
Natural history and biomarkers of retinal dystrophy caused by the biallelic TULP1 variant c.148delG. Acta ophthalmologica (2022)
Maria Kaukonen, Inka-Tuulevi Pettinen, Kaisa Wickström, Meharji Arumilli, Jonas Donner, Ida-Julia Juhola, Saila Holopainen, Joni Antero Turunen, Masahito Yoshihara, Juha Kere, Hannes T Lohi
A missense variant in IFT122 associated with a canine model of retinitis pigmentosa. Human genetics 140 (11) (2021)
Perttu J Liuska, Mika Harju, Tero Tapani Kivelä, Joni Antero Turunen
Prevalence of MYOC risk variants for glaucoma in different populations. Acta ophthalmologica 99 (7) (2021)
Yosuke Tanigawa, Michael Wainberg, Juha Karjalainen, Tuomo Tapio Johannes Kiiskinen, Guhan Ram Venkataraman, Susanna Lemmelä, Joni Antero Turunen, Robert R Graham, Aki Samuli Havulinna, Markus Perola, Aarno Palotie, null null, Mark J Daly, Manuel A Rivas
Rare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma. PLoS genetics 16 (5) (2020)