ArticleDisease models & mechanisms2018
CRISPR-Cas9 human gene replacement and phenomic characterization in
Article in Disease models & mechanisms, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
What it found
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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
24 citing papers in PubMed, 46 citations in OpenAlex.
- Dissecting GPCR Contributions to Gαo-Dependent Motor Dysfunction inBiomedicines · 2026Article
- Interpreting the functional impact of genetic variants: The need for context qualifiers.American journal of human genetics · 2026Review
- Modelling phenotypes, variants and pathomechanisms of syndromic diseases in different systems.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2024Article
- Integrating non-mammalian model organisms in the diagnosis of rare genetic diseases in humans.Nature reviews. Genetics · 2024Review
- Matching variants for functional characterization of genetic variants.G3 (Bethesda, Md.) · 2023Article
- Phenotypic screening models for rapid diagnosis of genetic variants and discovery of personalized therapeutics.Molecular aspects of medicine · 2023Review
- Caenorhabditis elegans for research on cancer hallmarks.Disease models & mechanisms · 2023Article
- Uncovering novel regulators of memory using C. elegans genetic and genomic analysis.Biochemical Society transactions · 2023Review
- Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel.Human genomics · 2023Article
- Mitochonic Acid 5 Improves Duchenne Muscular Dystrophy and Parkinson's Disease Model ofInternational journal of molecular sciences · 2022Article
- Modeling primary ovarian insufficiency-associated loci in C. elegans identifies novel pathogenic allele of MSH5.Journal of assisted reproduction and genetics · 2022Article
- Genetic analysis of DAF-18/PTEN missense mutants for the ability to maintain quiescence of the somatic gonad and germ line in Caenorhabditis elegans dauer larvae.G3 (Bethesda, Md.) · 2022Article
- Interpreting ciliopathy-associated missense variants of uncertain significance (VUS) in Caenorhabditis elegans.Human molecular genetics · 2022Article
- Rapid assessment of the temporal function and phenotypic reversibility of neurodevelopmental disorder risk genes in Caenorhabditis elegans.Disease models & mechanisms · 2022Article
- Caenorhabditis elegans for rare disease modeling and drug discovery: strategies and strengths.Disease models & mechanisms · 2021Review
- ApplyingFrontiers in aging · 2021Article
- Caenorhabditis elegans in anthelmintic research - Old model, new perspectives.International journal for parasitology. Drugs and drug resistance · 2020Review
- Functional testing of ASD-associated genes.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
- Systematic phenomics analysis of autism-associated genes reveals parallel networks underlying reversible impairments in habituation.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
- Peel-1 negative selection promotes screening-free CRISPR-Cas9 genome editing in Caenorhabditis elegans.PloS one · 2020Article
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
Abstract
Our ability to sequence genomes has vastly surpassed our ability to interpret the genetic variation we discover. This presents a major challenge in the clinical setting, where the recent application of whole-exome and whole-genome sequencing has uncovered thousands of genetic variants of uncertain significance. Here, we present a strategy for targeted human gene replacement and phenomic characterization, based on CRISPR-Cas9 genome engineering in the genetic model organism
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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.