Minna Tiri-Kraatari

Oulu, Finland

Last Updated: 09/26/2026

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Found 13 publications

XXYLT1 and Mendelian Retinal Dystrophy.

XXYLT1 and Mendelian Retinal Dystrophy.

Journal: JAMA ophthalmology

Published: July 30, 2026

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.

Journal: American journal of human genetics

Published: August 08, 2025

Clinical and genetic characterization of intellectual disability.

Clinical and genetic characterization of intellectual disability.

Journal: Developmental medicine and child neurology

Published: June 04, 2025

Clinical and genetic characterisation of childhood-onset sensorineural hearing loss reveal associated phenotypes and enrichment of pathogenic founder mutations in the Finnish population.

Clinical and genetic characterisation of childhood-onset sensorineural hearing loss reveal associated phenotypes and enrichment of pathogenic founder mutations in the Finnish population.

Journal: International journal of audiology

Published: October 18, 2024

Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.

Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.

Journal: European journal of human genetics : EJHG

Published: April 02, 2024

Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome.

Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome.

Journal: NPJ genomic medicine

Published: December 01, 2023

Biallelic hexokinase 1 (HK1) variants causative of non-spherocytic haemolytic anaemia: A case series with emphasis on the HK1 promoter variant and literature review.

Biallelic hexokinase 1 (HK1) variants causative of non-spherocytic haemolytic anaemia: A case series with emphasis on the HK1 promoter variant and literature review.

Journal: British journal of haematology

Published: November 18, 2023

Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.

Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.

Journal: European journal of human genetics : EJHG

Published: June 16, 2023

Pathogenic REST variant causing Jones syndrome and a review of the literature.

Pathogenic REST variant causing Jones syndrome and a review of the literature.

Journal: European journal of human genetics : EJHG

Published: August 28, 2022

ATM c.7570G>C is a high-risk allele for breast cancer.

ATM c.7570G>C is a high-risk allele for breast cancer.

Journal: International journal of cancer

Published: June 23, 2022

HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H-TM protein.

HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H-TM protein.

Journal: Clinical genetics

Published: June 02, 2022

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.

Journal: American journal of human genetics

Published: May 27, 2022

Showing 1-12 of 13

Last Updated: 09/26/2026