Kati Kampjarvi

Espoo, Finland

Last Updated: 09/26/2026

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Found 19 publications

Development of RS1-specific ACMG/AMP variant classification criteria with pilot variant curation.

Development of RS1-specific ACMG/AMP variant classification criteria with pilot variant curation.

Journal: Human genetics

Published: June 20, 2025

Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.

Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.

Journal: Biomolecules

Published: January 29, 2024

Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability.

Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability.

Journal: HGG advances

Published: June 05, 2023

Late-Onset Autosomal Dominant Macular Degeneration Caused by Deletion of the CRX Gene.

Late-Onset Autosomal Dominant Macular Degeneration Caused by Deletion of the CRX Gene.

Journal: Ophthalmology

Published: July 01, 2022

Prevalence of RPGR-Mediated Retinal Dystrophy in an Unselected Cohort of Over 5000 Patients.

Prevalence of RPGR-Mediated Retinal Dystrophy in an Unselected Cohort of Over 5000 Patients.

Journal: Translational vision science & technology

Published: January 05, 2022

Comparison of 2SC, AKR1B10, and FH Antibodies as Potential Biomarkers for FH-deficient Uterine Leiomyomas.

Comparison of 2SC, AKR1B10, and FH Antibodies as Potential Biomarkers for FH-deficient Uterine Leiomyomas.

Journal: The American journal of surgical pathology

Published: October 22, 2021

Uterine leiomyomas in hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome can be identified through distinct clinical characteristics and typical morphology.

Uterine leiomyomas in hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome can be identified through distinct clinical characteristics and typical morphology.

Journal: Acta obstetricia et gynecologica Scandinavica

Published: April 01, 2021

Characterization of MED12, HMGA2, and FH alterations reveals molecular variability in uterine smooth muscle tumors.

Characterization of MED12, HMGA2, and FH alterations reveals molecular variability in uterine smooth muscle tumors.

Journal: Molecular cancer

Published: August 29, 2016

Somatic MED12 Nonsense Mutation Escapes mRNA Decay and Reveals a Motif Required for Nuclear Entry.

Somatic MED12 Nonsense Mutation Escapes mRNA Decay and Reveals a Motif Required for Nuclear Entry.

Journal: Human mutation

Published: June 28, 2016

MED12 mutations and FH inactivation are mutually exclusive in uterine leiomyomas.

MED12 mutations and FH inactivation are mutually exclusive in uterine leiomyomas.

Journal: British journal of cancer

Published: February 09, 2016

Integrated data analysis reveals uterine leiomyoma subtypes with distinct driver pathways and biomarkers.

Integrated data analysis reveals uterine leiomyoma subtypes with distinct driver pathways and biomarkers.

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: January 21, 2016

Somatic MED12 mutations in prostate cancer and uterine leiomyomas promote tumorigenesis through distinct mechanisms.

Somatic MED12 mutations in prostate cancer and uterine leiomyomas promote tumorigenesis through distinct mechanisms.

Journal: The Prostate

Published: August 05, 2015

Showing 1-12 of 19

Last Updated: 09/26/2026