Gene · 80184
Papers1,793
Newest first. Swiss-Prot's references are curated; PubTator's text mining finds papers that name the gene, not always ones about it.
1 to 20 of 1,793
Download this page as JSON| Title | Journal | Year | PMID | Found by | Source |
|---|---|---|---|---|---|
| Computer-Aided Facial Analysis and Non-Coding Variants Detectable by Exome Sequencing Increase Its Diagnostic Yield: Results From the DECIPHERD Study. | Am J Med Genet A | 2026 | 42817810 | PubTator, text mining | PubMed |
| Clinical translation of CRISPR-Cas9 therapeutics in cancer and inherited genetic disorders. | Front Genome Ed | 2026 | 42787623 | PubTator, text mining | PubMed |
| A comprehensive overview of genetic mutations in Iranian patients with Bardet-Biedl syndrome. | Mol Genet Metab Rep | 2026 | 42774553 | PubTator, text mining | PubMed |
| Divergent microtubule-organizing center strategies in mammalian gametogenesis. | Trends Open | 2026 | 42761981 | PubTator, text mining | PubMed |
| Mesenchymal drift in ciliopathy iPSC-derived RPE reveals a convergent pathogenic cell state. | Cell Rep | 2026 | 42667617 | PubTator, text mining | PubMed |
| Gene therapy clinical trials for inherited eye diseases: The pediatric perspective. | Eur J Ophthalmol | 2026 | 42627399 | PubTator, text mining | PubMed |
| Whole exome sequencing identifies three novel variants and establishes the molecular diagnosis of ATP6V0A4-related distal renal tubular acidosis in a lebanese infant. | Mol Biol Rep | 2026 | 42593562 | PubTator, text mining | PubMed |
| Identification of a Duplication in the RP17 Locus in an Individual With Pathogenic CEP290 Variants: Implications for RP17 Variant Classification. | Invest Ophthalmol Vis Sci | 2026 | 42545071 | PubTator, text mining | PubMed |
| Efficacy, Safety, and Durability of Gene Therapy for Inherited Retinal Diseases in the Pediatric Population: A Scoping Review. | Am J Ophthalmol | 2026 | 42537978 | PubTator, text mining | PubMed |
| Diagnostic yield and variant spectrum of whole-exome sequencing in Iranian probands with congenital and early-onset ocular disorders. | Mol Genet Metab Rep | 2026 | 42495084 | PubTator, text mining | PubMed |
| Breakpoint-level characterization of a novel CEP290 tandem duplication in trans with a pathogenic splice-site variant in a patient with Leber congenital amaurosis. | BMC Med Genomics | 2026 | 42482214 | PubTator, text mining | PubMed |
| Variants in the leptin-MC4R pathway and ciliopathy-related genes in youths with obesity beyond hyperphagia and early onset. | J Endocrinol Invest | 2026 | 42424029 | PubTator, text mining | PubMed |
| Clinical manifestations of dual-gene variants in retinitis pigmentosa. | Acta Ophthalmol | 2026 | 42360046 | PubTator, text mining | PubMed |
| Absent cone function and stable ophthalmic features in a non-syndromic woman with pathogenic variants in CEP290. | Ophthalmic Genet | 2026 | 42343648 | PubTator, text mining | PubMed |
| Whole genome sequencing for CKD of unexplained cause in Hong Kong. | Nephrol Dial Transplant | 2026 | 42329778 | PubTator, text mining | PubMed |
| Clinical heterogeneity associated with Bardet-Biedl syndrome-related genes in presumed non-syndromic inherited retinal disease. | Front Cell Dev Biol | 2026 | 42311504 | PubTator, text mining | PubMed |
| CEP131 Deficiency Leads to Multiple Morphological Abnormalities of the Sperm Flagellum-Associated Male Infertility via Impaired CEP290 Interaction. | Andrology | 2026 | 42299473 | PubTator, text mining | PubMed |
| Clinical and functional characterization of a novel homozygous non-canonical splice mutation (c.1910-15_1910-11delinsTTACA) in CEP290 causing Joubert syndrome. | Hum Genomics | 2026 | 42271513 | PubTator, text mining | PubMed |
| SLD5/GINS4 controls dynein-dependent centrosome maturation and exposes a candidate mitotic vulnerability in cancer. | bioRxiv | 2026 | 42182163 | PubTator, text mining | PubMed |
| Methods to Determine the Role of MIF in Cilia Biogenesis. | Methods Mol Biol | 2026 | 42129126 | PubTator, text mining | PubMed |
gene-search-2026-11-11-0.2.0
Sources 12
- ClinicalTrials.gov's posted results, through CTTI's AACTFreely available. Acknowledgement requested
- ChEMBL, through Open TargetsCC BY-SA 3.0
- ClinicalTrials.govNo license stated
- EMBL-EBI's patent proteinsNo added restrictions. Attribution expected
- GenBank's patent filesNo restrictions from NCBI. Submitters may hold rights
- HGNCCC0
- NCBI GenePublic domain (US government)
- NIH's project files and grant-paper linksPublic domain
- Open TargetsCC0 1.0
- PubMedNLM's terms
- PubTator 3Public domain
- UniProtCC BY 4.0
Each source's terms
- ClinicalTrials.gov's posted results, through CTTI's AACTClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299
- ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
- ClinicalTrials.govnone stated
- EMBL-EBI's patent proteinsEMBL-EBI's patent protein files from the EPO, JPO, KIPO and USPTO. EMBL-EBI: "EMBL-EBI itself places no additional restrictions on the use or redistribution of the data available via its Data Resources and Tools other than those provided by the original data owners" and "EMBL-EBI expects attribution (e.g. in publications, services or products) for the use of any of its Data Resources and Tools." Read on 11 Nov 2026 at https://www.ebi.ac.uk/about/terms-of-use
- GenBank's patent filesGenBank's patent files. NCBI: "NCBI places no restrictions on the use or distribution of the GenBank data. However, some submitters may claim patent, copyright, or other intellectual property rights in all or a portion of the data they have submitted." Read on 11 Nov 2026 at https://www.ncbi.nlm.nih.gov/genbank/about/
- HGNCCC0: https://www.genenames.org/about/license/
- NCBI GeneNone named for the file. NCBI says information created by or for the US government on its site is in the public domain, and asks that NLM be acknowledged: https://www.ncbi.nlm.nih.gov/home/about/policies/
- NIH's project files and grant-paper linksPublic domain (NIH RePORTER)
- Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
- PubMedNLM's terms
- PubTator 3Public domain
- UniProtCC BY 4.0. UniProt's licence file: "All databases and documents in the UniProt FTP directory may be copied and redistributed freely, without advance permission, provided that this copyright statement is reproduced with each copy." UniProt asks that users cite its latest paper: The UniProt Consortium, UniProt: the Universal Protein Knowledgebase in 2025, Nucleic Acids Research 53:D609-D617, https://doi.org/10.1093/nar/gkae1010. Read on 9 Nov 2026 at https://www.uniprot.org/help/license
ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.
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