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International Journal of Audiology|October 18, 2024
Clinical and genetic characterisation of childhood-onset sensorineural hearing loss reveal associated phenotypes and enrichment of pathogenic founder mutations in the Finnish populationMinna Kraatari-Tiri, Tyrni Pykälainen, Pia Pohjola, et al.International Journal of Cancer|September 26, 2022
ATM c.7570G>C is a high-risk allele for breast cancerMinna Kankuri-Tammilehto, Anna Tervasmäki, Minna Kraatari-Tiri, et al.European Journal of Human Genetics : EJHG|December 12, 2022
Pathogenic REST variant causing Jones syndrome and a review of the literatureElisa Rahikkala, Johanna Julku, Sari Koskinen, et al.Developmental Medicine and Child Neurology|March 18, 2026
Clinical and genetic characterization of intellectual disabilityAarni Venetvaara, Minna Kraatari-Tiri, Jussi-Pekka Tolonen, et al.Journal of Clinical Medicine|April 12, 2022
Clinical and Genetic Characteristics of Finnish Patients with Autosomal Recessive and Dominant Non-Syndromic Hearing Loss Due to Pathogenic TMC1 VariantsMinna Kraatari-Tiri, Maria K Haanpää, Tytti Willberg, et al.British Journal of Haematology|February 28, 2024
Biallelic hexokinase 1 (HK1) variants causative of non-spherocytic haemolytic anaemia: A case series with emphasis on the HK1 promoter variant and literature reviewElli-Maija Ukonmaanaho, Silvia Dell'Anna, Anna Hakonen, et al.JAMA Ophthalmology|July 30, 2026
XXYLT1 and Mendelian Retinal DystrophyMinna Kraatari-Tiri, Hina Ishtiaq, Jaakko Tyrmi, et al.Clinical Genetics|July 30, 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 proteinMinna Kraatari-Tiri, Leila Soikkonen, Matti Myllykoski, et al.European Journal of Human Genetics : EJHG|February 15, 2024
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype studyAlix Paulet, Cavan Bennett-Ness, Faustine Ageorges, et al.NPJ Genomic Medicine|March 27, 2024
Expanding the clinical spectrum of biglycan-related Meester-Loeys syndromeJosephina A N Meester, Anne Hebert, Maaike Bastiaansen, et al.Pageof 2