Gene · 85358
Papers2,252
Newest first. Swiss-Prot's references are curated; PubTator's text mining finds papers that name the gene, not always ones about it.
61 to 80 of 2,252
Download this page as JSON| Title | Journal | Year | PMID | Found by | Source |
|---|---|---|---|---|---|
| Genetic Characterization of 128 Chinese Individuals with Neurodevelopmental Disorders via Whole-Exome Sequencing. | Dev Neurosci | 2025 | 41134724 | PubTator, text mining | PubMed |
| Genotype-Phenotype Correlation and Psychiatric Manifestations in a Case of Phelan-McDermid Syndrome With 22q13.33 Deletion. | Cureus | 2025 | 41111688 | PubTator, text mining | PubMed |
| Familial Molecular Burden in Autism Spectrum Disorder: A Next-Generation Sequencing Study of Polish Affected Families. | Int J Mol Sci | 2025 | 41096937 | PubTator, text mining | PubMed |
| Integrating Network Analysis and Machine Learning Identifies Key Autism Spectrum Disorder Genes Linked to Immune Dysregulation and Therapeutic Targets. | Genes (Basel) | 2025 | 41010054 | PubTator, text mining | PubMed |
| The challenge of ultra-rarity: Dual diagnosis of Lafora disease and developmental encephalopathies linked to TRIO and SHANK3 pathogenic variants. | Epilepsia Open | 2025 | 41003650 | PubTator, text mining | PubMed |
| The Long and Winding Road to Understanding Autism. | NeuroSci | 2025 | 40981259 | PubTator, text mining | PubMed |
| A Rare Tetrad of Sickle Cell Disease, Vascular Ehlers-Danlos Syndrome, Primary Ciliary Dyskinesia, and Phelan-McDermid Syndrome in a Saudi Child: A Complex Multisystem Pediatric Case Report. | Pediatr Rep | 2025 | 40981013 | PubTator, text mining | PubMed |
| eIF5A and hypusination-related disorders: literature review and case report of DOHH-related encephalopathy. | J Neurodev Disord | 2025 | 40883692 | PubTator, text mining | PubMed |
| Longitudinal Trajectory of Adaptive Skills in Phelan-McDermid Syndrome. | Am J Intellect Dev Disabil | 2025 | 40858307 | PubTator, text mining | PubMed |
| Phenotypic variation in neural sensory processing by deletion size, age, and sex in Phelan-McDermid syndrome. | J Neurodev Disord | 2025 | 40855273 | PubTator, text mining | PubMed |
| Shank3 oligomerization governs material properties of the postsynaptic density condensate and synaptic plasticity. | Cell | 2025 | 40848728 | PubTator, text mining | PubMed |
| Evaluation of familial phenotype deviation to measure the impact of de novo mutations in autism. | Genome Med | 2025 | 40836247 | PubTator, text mining | PubMed |
| Inflammation increases the penetrance of behavioral impairment in Shank3 haploinsufficiency mice - can it explain the behavioral regression in Autism? | bioRxiv | 2025 | 40832260 | PubTator, text mining | PubMed |
| Epilepsy as a multifaceted neurological disease: insights from a genetic study of novel gene variants. | Brain Dev | 2025 | 40818193 | PubTator, text mining | PubMed |
| Winnow-KAN: single-cell RNA-seq location recovery with small-gene-set spatial transcriptomics. | BMC Bioinformatics | 2025 | 40797190 | PubTator, text mining | PubMed |
| CytoAnalyst web platform facilitates comprehensive single cell RNA sequencing analysis. | Sci Rep | 2025 | 40770264 | PubTator, text mining | PubMed |
| CircRNA-Based Therapeutics: a New Frontier in Neuroinflammation Treatment. | Mol Neurobiol | 2025 | 40745517 | PubTator, text mining | PubMed |
| Efficacy and safety of cannabidiol in a single-center pediatric drug-resistant epilepsy cohort: a retrospective study. | Front Neurol | 2025 | 40740850 | PubTator, text mining | PubMed |
| Vertigo and dizziness in genetic neurodevelopmental disorders: an international cross-sectional study. | J Neurol | 2025 | 40627246 | PubTator, text mining | PubMed |
| [Clinical and genetic analysis of four patients with Phelan-McDermid syndrome due to variants of SHANK gene]. | Zhonghua Yi Xue Yi Chuan Xue Za Zhi | 2025 | 40623927 | 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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