Elisa Rahikkala
- Characterisation and prevalence of inherited retinal diseases in the Finnish population reveals enrichment of population-specific phenotypes and causative variants (2025)
- British Journal of Ophthalmology
- Kuuloviat (2025) Lääketieteellinen genetiikka Aarnisalo, Antti; Mäkitie, Riikka; Rahikkala, Elisa
- Miten oireyhtymiä diagnosoidaan ja tutkitaan? (2025) Lääketieteellinen genetiikka Rahikkala, Elisa; Haanpää, Maria
- Novel intronic variant in NDUFS7 gene results in mitochondrial complex I assembly defect with early basal ganglia and midbrain involvement with progressive neuroimaging findings (2025)
- Mitochondrion
- Clinical and genetic characterisation of childhood-onset sensorineural hearing loss reveal associated phenotypes and enrichment of pathogenic founder mutations in the Finnish population (2024)
- International Journal of Audiology
- Optical Genome Mapping Identifies a Second Xq27.1 Rearrangement Associated With Charcot-Marie-Tooth Neuropathy CMTX3 (2024)
- Molecular Genetics and Genomic Medicine
- Report of a Novel Homozygous Intragenic DCC Duplication and a Review of Literature of Developmental Split-Brain Syndrome aka Horizontal Gaze Palsy with Progressive Scoliosis-2 with Impaired Intellectual Development Syndrome (2023)
- Molecular syndromology
- A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development (2022)
- European Journal of Human Genetics
- Autosomal recessive nonsyndromic hearing impairment in two Finnish families due to the population enriched CABP2 c.637+1G > T variant (2022)
- Molecular Genetics and Genomic Medicine
- Cytosolic phosphoenolpyruvate carboxykinase deficiency: Expanding the clinical phenotype and novel laboratory findings (2022)
- Journal of Inherited Metabolic Disease
- Psychiatric symptoms in Salla disease (2022)
- European Child and Adolescent Psychiatry
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