ReviewDisease models & mechanisms2022
The Finnish genetic heritage in 2022 - from diagnosis to translational research.
Review in Disease models & mechanisms, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
26 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Missense variants in FRS3 affect body mass index in populations of diverse ancestries.Nature communications · 2025Pooled it
- Clinical and genetic characterization of intellectual disability.Developmental medicine and child neurology · 2026Article
- Message in a bottleneck: Nested founder effects from French Polynesia to Rapa Nui and Hawai'i.Science (New York, N.Y.) · 2026Article
- RepurposingACS omega · 2026Article
- Effect of ancestry and shared genetic architecture of serious mental illness on symptoms and cognition in an admixed Latin American population.Research square · 2026Article
- Effect of ancestry and shared genetic architecture of serious mental illness on symptoms and cognition in an admixed Latin American population.medRxiv : the preprint server for health sciences · 2026Article
- Blood donor biobank pipeline to collect genome-based samples for research.Scientific reports · 2026Article
- Inherited burden for disease predisposition in diverse populations.NPJ genomic medicine · 2026Article
- How Genes Meet Diet in LCHAD Deficiency: Nutrigenomics of Fatty Acid Oxidation Disorder.International journal of molecular sciences · 2025Review
- Genetics, cardiac phenotype and cardiovascular outcomes in Fabry disease patients in Finland.ESC heart failure · 2025Article
- Phenotypic Heterogeneity in Genetic and Acquired Pediatric Cerebellar Disorders.Movement disorders : official journal of the Movement Disorder Society · 2025Article
- Genetic Diversity and Mutation Frequency Databases in Ethnic Populations: Systematic Review.JMIR bioinformatics and biotechnology · 2025Review
- Article
- Dose-dependent CHCHD10 dysregulation dictates motor neuron disease severity and alters creatine metabolism.Acta neuropathologica communications · 2025Article
- PRESCOTT: a population aware, epistatic, and structural model accurately predicts missense effects.Genome biology · 2025Article
- Genomics of rare diseases in the Greater Middle East.Nature genetics · 2025Review
- The role of complement factor I rare genetic variants in age related macular degeneration in Finland.Human molecular genetics · 2025Article
- Typical and atypical MRI patterns of rare brain disorders: The challenge of low numbers.Developmental medicine and child neurology · 2025Article
- Brain MRI findings in paediatric genetic disorders associated with white matter abnormalities.Developmental medicine and child neurology · 2025Article
- Genetic, clinical, lifestyle and sociodemographic risk factors for head and neck cancer: A UK Biobank study.PloS one · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
19 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Isolated populations have been valuable for the discovery of rare monogenic diseases and their causative genetic variants. Finnish disease heritage (FDH) is an example of a group of hereditary monogenic disorders caused by single major, usually autosomal-recessive, variants enriched in the population due to several past genetic drift events. Interestingly, distinct subpopulations have remained in Finland and have maintained their unique genetic repertoire. Thus, FDH diseases have persisted, facilitating vigorous research on the underlying molecular mechanisms and development of treatment options. This Review summarizes the current status of FDH, including the most recently discovered FDH disorders, and introduces a set of other recently identified diseases that share common features with the traditional FDH diseases. The Review also discusses a new era for population-based studies, which combine various forms of big data to identify novel genotype-phenotype associations behind more complex conditions, as exemplified here by the FinnGen project. In addition to the pathogenic variants with an unequivocal causative role in the disease phenotype, several risk alleles that correlate with certain phenotypic features have been identified among the Finns, further emphasizing the broad value of studying genetically isolated populations.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.