{"id":"W1955152225","doi":"10.1111/j.1365-2788.2011.01510.x","title":"Caregiver and adult patient perspectives on the importance of a diagnosis of 22q11.2 deletion syndrome","year":2011,"lang":"en","type":"article","venue":"Journal of Intellectual Disability Research","topic":"Congenital heart defects research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":49,"is_retracted":false,"has_abstract":true,"ca_institutions":"University Health Network; Hospital for Sick Children; University of Toronto; Centre for Addiction and Mental Health","funders":"Canadian Institutes of Health Research; Canada Research Chairs","keywords":"Microdeletion syndrome; Medical diagnosis; Intellectual disability; Medicine; MEDLINE; Psychology; Psychiatry; Genetics; Pathology; Biology","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":"codex-gemma-dda1882f352a","candidate_categories":["metaresearch"],"consensus_categories":[],"category_scores_codex":[0.001314835,0.00009597906,0.0002116877,0.00009736549,0.00006931398,0.00001040281,0.000270921,0.00008556964,0.0003350073],"category_scores_gemma":[0.008786237,0.00006222267,0.0001526161,0.000262216,0.001244351,0.000008373569,0.0002131731,0.0003949954,0.000003093286],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00006714596,"about_ca_system_score_gemma":0.0001270583,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00009680964,"about_ca_topic_score_gemma":0.0001015257,"domain_scores_codex":[0.997955,0.0005650074,0.0004061503,0.0002110996,0.0006353984,0.0002273616],"domain_scores_gemma":[0.9969665,0.0008202034,0.0001199863,0.0003536232,0.001638603,0.0001011285],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.01073342,0.005811667,0.7186136,0.0007168021,0.0009357635,0.00006660525,0.08708643,0.00000854687,0.1350038,0.001449212,0.007299742,0.03227438],"study_design_scores_gemma":[0.001023434,0.03222734,0.1678033,0.0003333368,0.00004329313,0.0003563552,0.08397371,0.0000840193,0.7115147,0.00159296,0.0007319976,0.0003156145],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9976153,0.001166626,0.00001272226,0.0002245328,0.00001855384,0.0002873843,0.00001486389,9.460315e-7,0.0006590611],"genre_scores_gemma":[0.9990586,0.0008029262,0.000047575,0.0000111149,0.00002519829,0.00001594126,0.000001045996,0.00001022577,0.00002734837],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5765108,"threshold_uncertainty_score":0.9995632,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06457085858316554,"score_gpt":0.3331295621886319,"score_spread":0.2685587036054664,"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."}}