ReviewNature reviews. Genetics2024
Integrating non-mammalian model organisms in the diagnosis of rare genetic diseases in humans.
Review in Nature reviews. Genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers.
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Who cites it
53 citing papers in PubMed, 66 citations in OpenAlex.
- Evaluating the Validity of Model Organisms: A Review and a New Framework for Biologists.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2026Review
- Zebrafish relatives as models for functional comparative genetics and genomics.Nature reviews. Genetics · 2026Review
- Hippo signaling regulates cuticle pigmentation and dopamine metabolism in Drosophila.PLoS genetics · 2026Article
- Loss-of-function variants in MARK2 cause neurodevelopmental disorder.HGG advances · 2026Article
- Credit to the Fruit Fly: How the Tiny Insect Lights Up Our Understanding of Human Disease.Insects · 2026Review
- Genetic analyses enabled by the fourth chromosome resource project reveal unexpected mutant phenotypes and suggest new disease models.G3 (Bethesda, Md.) · 2026Article
- Genetic analysis of the X-linked adrenoleukodystrophy gene ABCD1 in Drosophila uncovers a conserved phenotype.Communications biology · 2026Article
- AbioRxiv : the preprint server for biology · 2026Article
- Rare heterozygous de novo variants in RAPGEF2 are associated with a neurodevelopmental disorder.Genetics in medicine : official journal of the American College of Medical Genetics · 2026Article
- Article
- Unraveling the Morphological and Functional Maturation Mechanisms Underlying Human Neural Development Using iPSCs-Derived Neuronal Model.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Interpreting the functional impact of genetic variants: The need for context qualifiers.American journal of human genetics · 2026Review
- Navigating the Autophagy Maze: ATG and Their Impact on Neurodegenerative Diseases.Molecular neurobiology · 2025Review
- The Effects of FeedingMicroorganisms · 2025Article
- Hippo signaling regulates cuticle pigmentation and dopamine metabolism inbioRxiv : the preprint server for biology · 2025Article
- Novel modifiers of oncoprotein-mediated Polycomb inhibition in Drosophila melanogaster.Genetics · 2025Article
- Reaffirming the value of model organisms in training scientific minds.Nature cell biology · 2025Article
- Genetic Differences Modify Anesthetic Preconditioning of Traumatic Brain Injury in Drosophila.Journal of neurotrauma · 2025Article
- Distinguishing PEX2 and PEX16 gene variant severity for mild, severe and atypical peroxisome biogenesis disorders.Disease models & mechanisms · 2025Article
- Functional assays inGenome research · 2025Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Next-generation sequencing technology has rapidly accelerated the discovery of genetic variants of interest in individuals with rare diseases. However, showing that these variants are causative of the disease in question is complex and may require functional studies. Use of non-mammalian model organisms - mainly fruitflies (Drosophila melanogaster), nematode worms (Caenorhabditis elegans) and zebrafish (Danio rerio) - enables the rapid and cost-effective assessment of the effects of gene variants, which can then be validated in mammalian model organisms such as mice and in human cells. By probing mechanisms of gene action and identifying interacting genes and proteins in vivo, recent studies in these non-mammalian model organisms have facilitated the diagnosis of numerous genetic diseases and have enabled the screening and identification of therapeutic options for patients. Studies in non-mammalian model organisms have also shown that the biological processes underlying rare diseases can provide insight into more common mechanisms of disease and the biological functions of genes. Here, we discuss the opportunities afforded by non-mammalian model organisms, focusing on flies, worms and fish, and provide examples of their use in the diagnosis of rare genetic diseases.
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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.