{"id":"W1482289836","doi":"10.1186/1471-2350-7-60","title":"Familial deletion 18p syndrome: case report","year":2006,"lang":"en","type":"article","venue":"BMC Medical Genetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":85,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal","funders":"","keywords":"Proband; Short stature; Genetic counseling; Psychology; Pediatrics; Cognition; Genetics; Chromosomal Deletion; Chromosome; Medicine; Psychiatry; Biology; Mutation","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":[0.0002529991,0.0001382826,0.0001274635,0.0000278152,0.0001062038,0.00002152966,0.000140002,0.0002511298,0.000185817],"category_scores_gemma":[0.0001319174,0.0001328259,0.00008792936,0.00006403057,0.00009794311,0.000001638825,0.0001073081,0.00008259583,0.00003042814],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001545842,"about_ca_system_score_gemma":0.0003224709,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001848124,"about_ca_topic_score_gemma":0.0006138061,"domain_scores_codex":[0.99871,0.00006442614,0.0003783897,0.000300224,0.0002964005,0.0002505463],"domain_scores_gemma":[0.9993287,0.00001879236,0.00008392795,0.0003487352,0.00007744929,0.000142411],"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":[0.0004347395,0.002769266,0.4427973,0.0009366359,0.0005680539,0.2339144,0.0003330398,0.008809779,0.1725999,0.009219699,0.1104175,0.01719975],"study_design_scores_gemma":[0.003416588,0.001041675,0.08149295,0.00006868282,0.0001989431,0.6728818,0.0005254741,0.00300764,0.05868746,0.001407395,0.1757482,0.001523216],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9784324,0.0005704122,0.01865428,0.00006795629,0.0003444492,0.0001127742,0.00002083232,0.00001947512,0.001777433],"genre_scores_gemma":[0.9913744,0.00007454085,0.004286806,0.0001380646,0.0007306313,0.00002088217,0.0003366898,0.00002005835,0.003017925],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4389674,"threshold_uncertainty_score":0.5416483,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008387568449679644,"score_gpt":0.2320938735468008,"score_spread":0.2237063050971212,"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."}}