{"id":"W4211087283","doi":"10.1002/mgg3.1843","title":"A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome","year":2022,"lang":"en","type":"review","venue":"Molecular Genetics & Genomic Medicine","topic":"Genetic Syndromes and Imprinting","field":"Biochemistry, Genetics and Molecular Biology","cited_by":68,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; Foundation for Angelman Syndrome Therapeutics; Angelman Syndrome Foundation","keywords":"Medicine; Health care; Angelman syndrome; Intervention (counseling); Multidisciplinary approach; Psychiatry; Psychology; Family 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":[0.0006269084,0.0005690414,0.001528375,0.0002711264,0.0001020052,0.00001609447,0.0004452329,0.0002361986,0.00007336081],"category_scores_gemma":[0.0001599282,0.0005277719,0.000274797,0.0002014819,0.0001743031,6.313297e-7,0.0008963725,0.0001515412,0.000001065995],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001093626,"about_ca_system_score_gemma":0.0004632863,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002367681,"about_ca_topic_score_gemma":0.000007522787,"domain_scores_codex":[0.9969667,0.0001738475,0.000961951,0.0009984304,0.0004141937,0.0004849424],"domain_scores_gemma":[0.9981705,0.00004053863,0.0004610756,0.0008916836,0.0001537778,0.0002824406],"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":[0.00006337296,0.0001527366,0.00004490673,0.03451691,0.001322805,0.00006963625,0.001479635,0.0004625678,0.0209968,0.00005370704,0.001972456,0.9388645],"study_design_scores_gemma":[0.0009265384,0.002477786,0.00004006086,0.0009185238,0.0008291692,0.0003193755,0.0008718807,0.00002615211,0.0002052925,0.000009383225,0.9928567,0.0005191668],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.01231388,0.9778894,0.005207979,0.00002832672,0.0002096655,0.002996819,0.0006540586,0.00001119745,0.0006886568],"genre_scores_gemma":[0.002935352,0.9768571,0.01772202,0.00005098949,0.0001061529,0.0005111752,0.001093237,0.0002724423,0.0004515255],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9908842,"threshold_uncertainty_score":0.9997174,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02930181875762139,"score_gpt":0.3338439730205389,"score_spread":0.3045421542629175,"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."}}