{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0008224278,0.0001676425,0.0002580573,0.00002802201,0.0002152311,0.00008717465,0.001027472,0.0002841133,0.0004213263],"category_scores_gemma":[0.001993146,0.0001448032,0.0001897812,0.00004613535,0.0004935013,0.000005896479,0.0004326648,0.0003383029,0.00002308963],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001871456,"about_ca_system_score_gemma":0.0002737825,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000008673986,"about_ca_topic_score_gemma":0.0000416038,"domain_scores_codex":[0.9980476,0.00008564365,0.0005920227,0.0002417826,0.0007585228,0.0002744019],"domain_scores_gemma":[0.9985829,0.00003346709,0.0003853184,0.0004938795,0.0001447928,0.000359647],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.0009784969,0.004311214,0.2670213,0.0003427386,0.001781723,0.00086995,0.001026434,0.0002742793,0.2863333,0.00009564638,0.1056611,0.3313039],"study_design_scores_gemma":[0.007730249,0.004583305,0.5948761,0.0003277822,0.0002640024,0.003915713,0.00047076,0.00067982,0.09995404,0.002173071,0.28375,0.001275163],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9950735,0.00119266,0.0004097825,0.00144175,0.0009640735,0.00009387374,0.000005905113,0.000003275768,0.0008151546],"genre_scores_gemma":[0.993777,0.004792398,0.0007344343,0.0002678873,0.00008397072,0.000001743284,0.000008155486,0.00002186885,0.0003124798],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3300287,"threshold_uncertainty_score":0.5904905,"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."}}