{"id":"W4409445260","doi":"10.1038/s41380-025-03017-w","title":"Targeted splicing approach for alleviation of a neurexin 1 haploinsufficiency model","year":2025,"lang":"en","type":"article","venue":"Molecular Psychiatry","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":2,"is_retracted":false,"has_abstract":false,"ca_institutions":"Hatch (Canada); Dalhousie University; Mount Allison University; University of British Columbia","funders":"Canadian Institutes of Health Research; U.S. Department of Health and Human Services; National Institutes of Health; Government of Canada; Natural Sciences and Engineering Research Council of Canada; Fondation Brain Canada; Simons Foundation","keywords":"Haploinsufficiency; Neurexin; RNA splicing; Computational biology; Neuroscience; Psychology; Medicine; Genetics; Biology; Gene; Phenotype","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002851806,0.0005350745,0.0003734594,0.0004273609,0.0004072354,0.0002929285,0.0006137278,0.000649445,0.002941591],"category_scores_gemma":[0.0001318647,0.0002127506,0.0005368873,0.0002236465,0.0004816164,0.0002199047,0.0002931519,0.001483144,0.0006097084],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003282117,"about_ca_system_score_gemma":0.0003229549,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007222084,"about_ca_topic_score_gemma":0.001106285,"domain_scores_codex":[0.9998035,0.00002743463,0.00002440092,0.00006249853,0.00005486124,0.00002729101],"domain_scores_gemma":[0.9998882,0.00002077266,0.00003357747,0.00001600301,0.0000130447,0.00002844351],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00008991425,0.00004901942,0.0000441518,0.00003066671,0.000009337443,0.0001614549,0.00002150726,0.00009476137,0.9972706,0.0006192842,0.0001449664,0.001464256],"study_design_scores_gemma":[0.00009098429,0.0004083026,0.001147356,0.00001784124,0.00009414076,0.0008890076,0.00005894618,0.003375951,0.9803274,0.0004154731,0.01315621,0.00001826867],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9450458,0.002017053,0.04102837,0.001048727,0.0006728963,0.0003542581,0.002537525,0.0006762724,0.006619127],"genre_scores_gemma":[0.9644065,0.001960826,0.01746858,0.0003108887,0.00004839988,0.0002929076,0.001632804,0.0001960255,0.01368288],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002941591,"threshold_uncertainty_score":0.009840548,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01655980508358818,"score_gpt":0.2740276862672746,"score_spread":0.2574678811836865,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}