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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.

81 to 100 of 1,793

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TitleJournalYearPMIDFound bySource
Ciliary biology intersects autism and congenital heart disease.bioRxiv202439131273PubTator, text miningPubMed
Twelve-month Natural History Study of Centrosomal Protein 290 (CEP290)-associated Inherited Retinal Degeneration.Ophthalmol Sci202438881603PubTator, text miningPubMed
Deciphering vesicle-assisted transport mechanisms in cytoplasm to cilium trafficking.Front Cell Neurosci202438860265PubTator, text miningPubMed
Phenotypic and genotypic analysis of 11 fetal cases with Bardet-Biedl syndrome.Prenat Diagn202438840299PubTator, text miningPubMed
Whole genome sequencing identifies elusive variants in genetically unsolved Italian inherited retinal disease patients.HGG Adv202438816995PubTator, text miningPubMed
Gene Editing for CEP290-Associated Retinal Degeneration.N Engl J Med202438709228PubTator, text miningPubMed
Clinical and genetic studies for a cohort of patients with Leber congenital amaurosis.Graefes Arch Clin Exp Ophthalmol202438662103PubTator, text miningPubMed
Delivering large genes using adeno-associated virus and the CRE-lox DNA recombination system.bioRxiv202438645107PubTator, text miningPubMed
Primary Ciliary Dyskinesia and Retinitis Pigmentosa: Novel RPGR Variant and Possible Modifier Gene.Cells202438534367PubTator, text miningPubMed
Precision ophthalmology: a call for Africa not to be left in the dark.Gene Ther202438519591PubTator, text miningPubMed
Retinal Ciliopathies and Potential Gene Therapies: A Focus on Human iPSC-Derived Organoid Models.Int J Mol Sci202438474133PubTator, text miningPubMed
Genomic profiles and their relationships with clinical characteristics and immune features in cervical cancer.Transl Oncol202438432114PubTator, text miningPubMed
Molecular genetics of inherited normal tension glaucoma.Indian J Ophthalmol202438389252PubTator, text miningPubMed
The Clinical Findings, Pathogenic Variants, and Gene Therapy Qualifications Found in a Leber Congenital Amaurosis Phenotypic Spectrum Patient Cohort.Int J Mol Sci202438279252PubTator, text miningPubMed
Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunction syndromes.
Prog Retin Eye Res202438278208PubTator, text miningPubMed
Splicing defects and CRISPR-Cas9 correction in isogenic homozygous photoreceptor precursors harboring clustered deep-intronic ABCA4 variants.Mol Ther Nucleic Acids202438274366PubTator, text miningPubMed
The Healthy and Diseased Retina Seen through Neuron-Glia Interactions.Int J Mol Sci202438256192PubTator, text miningPubMed
Inherited Retinal Degeneration Caused by Dehydrodolichyl Diphosphate Synthase Mutation-Effect of an ALG6 Modifier Variant.Int J Mol Sci202438256083PubTator, text miningPubMed
Highly efficient capture approach for the identification of diverse inherited retinal disorders.NPJ Genom Med202438195571PubTator, text miningPubMed
Possibilities and limitations of antisense oligonucleotide therapies for the treatment of monogenic disorders.Commun Med (Lond)202438182878PubTator, text miningPubMed

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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