{"id":"W4401101806","doi":"10.1177/26330040241265414","title":"Koolen-de Vries Syndrome: a journey from diagnosis to treatments","year":2024,"lang":"en","type":"review","venue":"Therapeutic Advances in Rare Disease","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University Health Centre","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","keywords":"Natural history; Foundation (evidence); Translational research; Engineering ethics; Political science; Medicine; Psychology; Engineering; Pathology","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":[0.001043253,0.0006351586,0.001176722,0.002154919,0.0004154156,0.001439402,0.0009106607,0.001459442,0.002802206],"category_scores_gemma":[0.001540158,0.0002396595,0.0004939267,0.001649203,0.0006496481,0.001626921,0.0008298671,0.002898853,0.001385378],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0009816122,"about_ca_system_score_gemma":0.001786063,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001506717,"about_ca_topic_score_gemma":0.002984843,"domain_scores_codex":[0.9996973,0.00007130926,0.0000485878,0.00003511269,0.0001148508,0.00003281952],"domain_scores_gemma":[0.9993684,0.0003650649,0.00006434842,0.00001432479,0.0001294888,0.00005845491],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00009236112,0.00004437519,0.0002169618,0.01170593,0.0001011314,0.0005674665,0.0001409718,0.0003370004,0.0005722024,0.009048703,0.05809094,0.9190819],"study_design_scores_gemma":[0.00001600759,0.00005600216,0.0004702929,0.007161762,0.00008395415,0.002688478,0.0001281463,0.00007303718,0.0001846998,0.004302808,0.9848166,0.00001807878],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.00008115943,0.9977082,0.0000922393,0.00123655,0.0002596946,0.000002245076,0.00001061781,0.000005835476,0.0006033976],"genre_scores_gemma":[0.0007228733,0.9978493,0.0001947603,0.0005398861,0.0002764119,0.000004550343,0.00002669597,0.00000200665,0.000383412],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.002802206,"threshold_uncertainty_score":0.009374261,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02749388009670799,"score_gpt":0.3622744266392224,"score_spread":0.3347805465425144,"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."}}