P. Repo

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MMP16 Mediates a Proteolytic Switch to Promote Cell-Cell Adhesion, Collagen Alignment, and Lymphatic Invasion in Melanoma.

K. Alitalo, S. Hautaniemi, R. Louhimo, 2015, Cancer research.

BAP1 germline variants in Finnish patients with malignant mesothelioma.

M. Rönty, M. Myllärniemi, T. Kivelä, 2022, Lung cancer.

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

V. Raivio, T. Kivelä, J. Turunen, 2019, Human molecular genetics.

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

T. Kivelä, J. Turunen, A. Jaakkola, 2020, American journal of ophthalmology.

Identifying haplotypes in recessive inherited retinal dystrophies using whole‐genome linked‐read sequencing

E. Sankila, P. Ellonen, T. Kivelä, 2020, Clinical genetics.

Indications of lymphatic endothelial differentiation and endothelial progenitor cell activation in the pathology of proliferative diabetic retinopathy

H. Vihinen, E. Jokitalo, P. Salvén, 2015, Acta ophthalmologica.

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.

T. Kivelä, J. Wedenoja, A. Riikonen, 2018, American journal of ophthalmology.

Lymphatic endothelium stimulates melanoma metastasis and invasion via MMP14-dependent Notch3 and β1-integrin activation

G. Balistreri, S. Hautaniemi, P. Saharinen, 2018, eLife.

Mutation Update: The Spectra of Nebulin Variants and Associated Myopathies

Jocelyn Laporte, Carol J. Saunders, K. Pelin, 2014, Human mutation.

Germline Loss-of-function Variants in MBD4 are Rare in Finnish Patients with Uveal Melanoma.

V. Raivio, T. Kivelä, J. Turunen, 2020, Pigment cell & melanoma research.

A novel missense TGFBI variant p.(Ser591Phe) in a Finnish family with variant lattice corneal dystrophy

T. Kivelä, J. Turunen, A. Jaakkola, 2021, European journal of ophthalmology.

Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide

Ivana K. Kim, S. Puig, N. Hayward, 2018, Journal of the National Cancer Institute.

Quantitative Proteomics Analysis of Vitreous Humor from Diabetic Retinopathy Patients.

Fitsum Tamene, Markku Varjosalo, M. Varjosalo, 2015, Journal of proteome research.

The microenvironment of proliferative diabetic retinopathy supports lymphatic neovascularization

H. Vihinen, E. Jokitalo, K. Lehti, 2018, The Journal of pathology.

A Case of Abnormal Lymphatic-Like Differentiation and Endothelial Progenitor Cell Activation in Neovascularization Associated with Hemi-Retinal Vein Occlusion

P. Salvén, K. Lehti, J. Lohi, 2015, Case Reports in Ophthalmology.

Analysis of glaucoma genes in Finnish patients with juvenile open‐angle glaucoma

M. Harju, J. Turunen, A. Majander, 2022, Acta ophthalmologica.

Epithelial recurrent erosion dystrophy (ERED) from the splice site altering COL17A1 variant c.3156C>T in families of Finnish‐Swedish ancestry

J. Turunen, Ilpo S Tuisku, P. Repo, 2023, Acta ophthalmologica.

MMP16 Mediates a Proteolytic Switch to Promote Cell-Cell Adhesion, Collagen Alignment, and Lymphatic Invasion in Melanoma.

K. Alitalo, S. Hautaniemi, R. Louhimo, 2015, Cancer research.

Characterisation of a LINE-1 Insertion in the RP1 Gene by Targeted Adaptive Nanopore Sequencing in a Family with Retinitis Pigmentosa

J. Turunen, Maarjaliis Paavo, K. Wartiovaara, 2024, Human Mutation.