Gene · 2548
Papers2,709
Newest first. Swiss-Prot's references are curated; PubTator's text mining finds papers that name the gene, not always ones about it.
121 to 140 of 2,709
Download this page as JSON| Title | Journal | Year | PMID | Found by | Source |
|---|---|---|---|---|---|
| Splicing correction by peptide-conjugated morpholinos as a novel treatment for late-onset Pompe disease. | Mol Ther Nucleic Acids | 2025 | 40255904 | PubTator, text mining | PubMed |
| Benchmarking of germline copy number variant callers from whole genome sequencing data for clinical applications. | Bioinform Adv | 2025 | 40248358 | PubTator, text mining | PubMed |
| Improving the treatment of Pompe disease with enzyme replacement therapy: current strategies and clinical evidence. | Expert Opin Pharmacother | 2025 | 40237692 | PubTator, text mining | PubMed |
| Bone disease and osteoporosis associated with Pompe disease. | JBMR Plus | 2025 | 40224915 | PubTator, text mining | PubMed |
| Oral and Poster Abstracts of the 13th ISNS European Regional Meeting. | Int J Neonatal Screen | 2025 | 40136636 | PubTator, text mining | PubMed |
| Five-Year Outcomes of Patients with Pompe Disease Identified by the Pennsylvania Newborn Screen. | Int J Neonatal Screen | 2025 | 40136631 | PubTator, text mining | PubMed |
| Heterozygous GAA knockout is nonconsequential on metabolism and the spatial liver transcriptome in high-fat diet-induced obese and prediabetic mice. | Physiol Rep | 2025 | 40108792 | PubTator, text mining | PubMed |
| Actionable genetic variants in 4,198 Scottish participants from the Orkney and Shetland founder populations and implementation of return of results. | Am J Hum Genet | 2025 | 40088892 | PubTator, text mining | PubMed |
| High Prevalence of the Intronic GAA-FGF14 Repeat Expansion in Dutch Patients With Late-Onset Ataxia. | Neurol Genet | 2025 | 40017559 | PubTator, text mining | PubMed |
| Epigenetic Modulation Directs Recovery Post LASIK and SMILE Surgery: An Experimental Study. | Life (Basel) | 2025 | 40003656 | PubTator, text mining | PubMed |
| A stable GH31 α-glucosidase as a model system for the study of mutations leading to human glycogen storage disease type II. | J Enzyme Inhib Med Chem | 2025 | 39995088 | PubTator, text mining | PubMed |
| Clinical and genetic spectrums of Pompe disease in Duhok city, Kurdistan region, Iraq. | Cell Mol Biol (Noisy-le-grand) | 2025 | 39910942 | PubTator, text mining | PubMed |
| Rescue of common and rare exon 2 skipping variants of the GAA gene using modified U1 snRNA. | Mol Med | 2025 | 39905333 | PubTator, text mining | PubMed |
| Beyond genomics: using RNA-seq from dried blood spots to unlock the clinical relevance of splicing variation in a diagnostic setting. | Eur J Hum Genet | 2025 | 39870877 | PubTator, text mining | PubMed |
| Highlights of Precision Medicine, Genetics, Epigenetics and Artificial Intelligence in Pompe Disease. | Int J Mol Sci | 2025 | 39859472 | PubTator, text mining | PubMed |
| Clinical manifestations in Egyptian Pompe disease patients: Molecular variability and enzyme replacement therapy (ERT) outcomes. | Ital J Pediatr | 2025 | 39849595 | PubTator, text mining | PubMed |
| Engineering of a lysosomal-targeted GAA enzyme. | Protein Eng Des Sel | 2025 | 39846949 | PubTator, text mining | PubMed |
| The FGF14 GAA repeat expansion is a major cause of ataxia in the Cypriot population. | Brain Commun | 2025 | 39801711 | PubTator, text mining | PubMed |
| Longitudinal analysis of anthropometric measures over 5 years in patients with Friedreich ataxia in the EFACTS natural history study. | Eur J Neurol | 2025 | 39797559 | PubTator, text mining | PubMed |
| Digital microfluidic platform for dried blood spot newborn screening of lysosomal storage diseases in Campania region (Italy): Findings from the first year pilot project. | Mol Genet Metab | 2025 | 39788860 | 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.
For software
Read this list from software.
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GET https://conductscience.org/api/genes/v1/2548/papers?page=7