Minna Kraatari-Tiri

Clinical and Genetic Characteristics of Finnish Patients with Autosomal Recessive and Dominant Non-Syndromic Hearing Loss Due to Pathogenic TMC1 Variants

O. Kuismin, J. Moilanen, E. Rahikkala, 2022, Journal of clinical medicine.

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

A. Bertoli-Avella, Y. Jamshidi, Marie-Christine Nouguès, 2022, Clinical genetics.

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

Rebecca C. Spillmann, C. Cytrynbaum, R. Weksberg, 2022, American journal of human genetics.

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

K. Pylkäs, O. Kuismin, E. Rahikkala, 2022, International journal of cancer.

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

A. Bertoli-Avella, E. Rahikkala, Sanna Häkli, 2022, European Journal of Human Genetics.

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

T. Kleefstra, F. Ramond, A. Riess, 2024, European journal of human genetics : EJHG.

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

R. van Wijk, B. V. van Oirschot, S. Kakko, 2024, British journal of haematology.