{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001820831,0.001616352,0.0007656945,0.00123078,0.000994126,0.0006353729,0.0005387327,0.001485544,0.007750317],"category_scores_gemma":[0.0008086832,0.0002848244,0.0004658155,0.001436681,0.0006416148,0.0003616249,0.001172975,0.0006874462,0.002637316],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004224988,"about_ca_system_score_gemma":0.0005756922,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002402643,"about_ca_topic_score_gemma":0.002974553,"domain_scores_codex":[0.9996897,0.00003075743,0.00002129343,0.0001139287,0.00008534113,0.00005896531],"domain_scores_gemma":[0.9997858,0.00004144809,0.00008751269,0.00001436572,0.00002480441,0.00004605081],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0009492725,0.0001304518,0.03708413,0.001792702,0.0004082349,0.3782045,0.0006896593,0.001073246,0.2165225,0.007715805,0.0338911,0.3215384],"study_design_scores_gemma":[0.0001540599,0.0002198144,0.07771826,0.0002850599,0.0002006652,0.7754195,0.0002061303,0.0005360532,0.02001933,0.00193841,0.1232172,0.00008550464],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.7903872,0.09658271,0.03079367,0.003958177,0.001214802,0.0008420168,0.01133744,0.003342323,0.06154171],"genre_scores_gemma":[0.941362,0.01793107,0.01414195,0.001145064,0.0002169625,0.0003068428,0.003756826,0.0001377856,0.02100155],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007750317,"threshold_uncertainty_score":0.02592736,"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."}}