{"id":"W2015053297","doi":"10.1159/000334260","title":"The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome)","year":2011,"lang":"en","type":"article","venue":"Molecular Syndromology","topic":"Congenital heart defects research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":476,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Alberta","funders":"","keywords":"Medicine","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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0005269573,0.0003312693,0.0002975955,0.0001141738,0.0003529737,0.0000503371,0.0007354104,0.0003952487,0.0002258772],"category_scores_gemma":[0.0002301414,0.0002798801,0.0002503012,0.0002680309,0.0004599761,0.00000817316,0.0004897835,0.0003422453,0.0006296943],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004013518,"about_ca_system_score_gemma":0.0001408256,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001297023,"about_ca_topic_score_gemma":0.0001343351,"domain_scores_codex":[0.9971678,0.0004631254,0.0003896018,0.0007249693,0.0003392006,0.000915361],"domain_scores_gemma":[0.9982965,0.00004958798,0.0000932706,0.001164514,0.0001608648,0.0002352719],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"case_report","study_design_scores_codex":[0.001265028,0.001353158,0.008203164,0.0002923943,0.002565576,0.180592,0.0004893658,0.00003999387,0.7494416,0.01111644,0.00787305,0.03676826],"study_design_scores_gemma":[0.003298132,0.01029671,0.05775578,0.0000872786,0.0002668869,0.6885777,0.0002400648,0.0002495465,0.136513,0.007775263,0.09234025,0.002599512],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9887453,0.001929304,0.001984925,0.0002243373,0.0003838177,0.0005398205,0.00001158229,0.00005554705,0.006125314],"genre_scores_gemma":[0.9966479,0.0001308986,0.0004503825,0.0002826267,0.00003040161,0.00015573,0.0000705778,0.00008101749,0.002150477],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6129286,"threshold_uncertainty_score":0.9999653,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01534536212558994,"score_gpt":0.2462788644502419,"score_spread":0.2309335023246519,"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."}}