{"id":"W4415606357","doi":"10.1016/j.jaapos.2025.104682","title":"Optic nerve hypoplasia/dysplasia in Coffin-Siris syndrome: a case series","year":2025,"lang":"en","type":"article","venue":"Journal of American Association for Pediatric Ophthalmology and Strabismus","topic":"Chromatin Remodeling and Cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":false,"ca_institutions":"Montreal Children's Hospital; Royal Victoria Hospital; McGill University; McGill University Health Centre","funders":"","keywords":"Optic nerve; Optic nerve hypoplasia; Hypoplasia; Chromatin; Visual system","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004861944,0.0001314399,0.0003421944,0.0001858984,0.00008233943,0.00002184419,0.00009353319,0.0001657643,0.000004887596],"category_scores_gemma":[0.0003742366,0.0001283488,0.0001223921,0.0002620271,0.00006089861,0.00001190819,0.00002776017,0.0001800624,4.265951e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00009060167,"about_ca_system_score_gemma":0.0002361965,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003193375,"about_ca_topic_score_gemma":0.00001075294,"domain_scores_codex":[0.9989229,0.00009698613,0.0004789778,0.0001813552,0.00009924719,0.0002204758],"domain_scores_gemma":[0.998916,0.0001262317,0.0006207056,0.00009294986,0.0001852301,0.00005883541],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001068783,0.0003824678,0.9793624,0.0002078781,0.0005385117,0.005188491,0.0002494577,0.001521104,0.00233252,0.0002418734,0.005339111,0.003567453],"study_design_scores_gemma":[0.01265965,0.01139171,0.5935082,0.0001099856,0.001438236,0.3656951,0.004582456,0.0007871934,0.001800853,0.003227888,0.003400635,0.001398037],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9972441,0.001257787,0.0001437081,0.0004919733,0.0003272395,0.0001224927,0.00002933708,0.000003345273,0.0003800654],"genre_scores_gemma":[0.997279,0.0003357298,0.001284453,0.00003728023,0.0001553938,0.0000106447,0.000009668086,0.000009682346,0.0008781824],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3858541,"threshold_uncertainty_score":0.5233912,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006637283356004242,"score_gpt":0.2723019359764693,"score_spread":0.2656646526204651,"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."}}