ReviewFrontiers in genetics2019
Opportunities and Challenges for Molecular Understanding of Ciliopathies-The 100,000 Genomes Project.
Review in Frontiers in genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 55 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
55 citing papers in PubMed.
- Primary Cilia of Astrocytes in the Retina in Development and Disease.Investigative ophthalmology & visual science · 2026Article
- The power of five - inositol polyphosphate 5-phosphatase gene mutations at the intersection of development and disease.FEBS letters · 2026Review
- The primary cilium at the helm: gatekeeper of TGF-β superfamily signaling in development, homeostasis, and disease.Biochemical Society transactions · 2026Review
- Multi-Level Genomic and Computational Analyses Identify a Novel IFT122 Variant Associated With Cranioectodermal Dysplasia 1 in a Consanguineous Saudi Family.Molecular genetics & genomic medicine · 2026Article
- COBT: a gene-based rare variant burden test for case-only study designs using aggregated genotypes from public reference cohorts.Genome medicine · 2026Article
- The N-terminal, WD40, and C-terminal domains of WDR-31 control ciliary localization and cooperate with ELMOD/RP2 gaps to maintain membrane compartmentalization.Turkish journal of biology = Turk biyoloji dergisi · 2026Article
- Mutations in the β-tubulin TUBB impair ciliogenesis and are associated with ciliopathy-like phenotypes.Nature communications · 2025Article
- Machine learning in biological research: key algorithms, applications, and future directions.BMC biology · 2025Review
- Tackling ciliary specialization to understand phenotypic variability in human primary ciliopathies.Journal of cell science · 2025Review
- Genome-Based Advances in Modeling Renal Ciliopathies and Enhancing Patient Care.Kidney & blood pressure research · 2025Review
- Primary cilia signaling in astrocytes mediates development and regional-specific functional specification.Nature neuroscience · 2024Article
- A class I PI3K signalling network regulates primary cilia disassembly in normal physiology and disease.Nature communications · 2024Article
- Selection for stress tolerance and longevity in Drosophila melanogaster have strong impacts on microbiome profiles.Scientific reports · 2024Article
- Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.Science (New York, N.Y.) · 2024Article
- Performance and clinical utility of a new supervised machine-learning pipeline in detecting rare ciliopathy patients based on deep phenotyping from electronic health records and semantic similarity.Orphanet journal of rare diseases · 2024Article
- Phosphoinositides in New Spaces.Cold Spring Harbor perspectives in biology · 2023Review
- WDR31 displays functional redundancy with GTPase-activating proteins (GAPs) ELMOD and RP2 in regulating IFT complex and recruiting the BBSome to cilium.Life science alliance · 2023Article
- CiliaMiner: an integrated database for ciliopathy genes and ciliopathies.Database : the journal of biological databases and curation · 2023Article
- Primary cilia as dynamic and diverse signalling hubs in development and disease.Nature reviews. Genetics · 2023Review
- Cilia-associated wound repair mediated by IFT88 in retinal pigment epithelium.Scientific reports · 2023Article
Corrections and comments
- Erratum issued
Authors and funding
3 authors.
Funding
Abstract
Cilia are highly specialized cellular organelles that serve multiple functions in human development and health. Their central importance in the body is demonstrated by the occurrence of a diverse range of developmental disorders that arise from defects of cilia structure and function, caused by a range of different inherited mutations found in more than 150 different genes. Genetic analysis has rapidly advanced our understanding of the cell biological basis of ciliopathies over the past two decades, with more recent technological advances in genomics rapidly accelerating this progress. The 100,000 Genomes Project was launched in 2012 in the UK to improve diagnosis and future care for individuals affected by rare diseases like ciliopathies, through whole genome sequencing (WGS). In this review we discuss the potential promise and medical impact of WGS for ciliopathies and report on current progress of the 100,000 Genomes Project, reviewing the medical, technical and ethical challenges and opportunities that new, large scale initiatives such as this can offer.
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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.