{"id":"W2739464038","doi":"10.1136/jmedgenet-2017-104579","title":"<i>FOXP1</i>-related intellectual disability syndrome: a recognisable entity","year":2017,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":80,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine; McGill University; Montreal Neurological Institute and Hospital","funders":"Vlaamse regering; Fonds Wetenschappelijk Onderzoek","keywords":"Intellectual disability; Ptosis; Global developmental delay; Blepharophimosis; Short stature; Genetic disorder; Genetics; Hearing loss; Palpebral fissure; Phenotype; Medicine; Biology; Internal medicine; Audiology; Gene; Anatomy; Surgery","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":[0.0001690367,0.0009755507,0.0003365666,0.000910181,0.000401273,0.0004722745,0.0004007425,0.0005814138,0.002283375],"category_scores_gemma":[0.0009122039,0.0001398721,0.0002123453,0.0005978352,0.0008397188,0.0003097092,0.0005858545,0.0004384222,0.0003565793],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002422351,"about_ca_system_score_gemma":0.0002835412,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007285876,"about_ca_topic_score_gemma":0.0004998089,"domain_scores_codex":[0.9998331,0.00001711332,0.0000190565,0.0000614435,0.00003013775,0.00003912584],"domain_scores_gemma":[0.9995869,0.0001211451,0.0001720237,0.00002504237,0.00002003294,0.00007479621],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"case_report","study_design_scores_codex":[0.0006537665,0.0001474169,0.500353,0.0003536418,0.0001260593,0.3496327,0.0006620043,0.0006032462,0.09338722,0.002208744,0.002076708,0.04979543],"study_design_scores_gemma":[0.00005857529,0.0003042423,0.2427426,0.00008949691,0.0001520287,0.7404414,0.0003288273,0.0005858018,0.008926331,0.001560492,0.004783225,0.00002698165],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.992747,0.001990356,0.001006312,0.0001870272,0.00001618699,0.0000282329,0.0002498342,0.00006372142,0.003711337],"genre_scores_gemma":[0.9984384,0.0004097862,0.0005808704,0.00005328021,0.00003805877,0.00001201897,0.000245929,0.000007299949,0.0002142794],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002283375,"threshold_uncertainty_score":0.007638633,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01599773749458432,"score_gpt":0.2832223390688557,"score_spread":0.2672246015742714,"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."}}