{"id":"W4386697219","doi":"10.1038/s41431-023-01447-0","title":"Börjeson–Forssman–Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families","year":2023,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's Hospital of Eastern Ontario","funders":"Wellcome Trust","keywords":"Missense mutation; Genetics; Camptodactyly; Allele; Intellectual disability; Biology; Phenotype; Medical genetics; Dermatology; Medicine; Gene","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":[0.001016635,0.0001376667,0.000181604,0.00009056553,0.0001131139,0.00005633564,0.0003473734,0.0000376555,0.000009332107],"category_scores_gemma":[0.0001019856,0.000101851,0.000129324,0.00009702692,0.0001197288,0.000002808139,0.0002344502,0.0002013888,0.00001619493],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000004389693,"about_ca_system_score_gemma":0.00007079478,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000003094829,"about_ca_topic_score_gemma":0.00004007227,"domain_scores_codex":[0.9985695,0.0002627831,0.0006271554,0.0001873011,0.0001346484,0.0002185785],"domain_scores_gemma":[0.9993238,0.00002454858,0.0002165136,0.0002401709,0.00005442457,0.0001405343],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0007192774,0.0006629639,0.5927038,0.0001987637,0.001198484,0.008643148,0.004038403,0.01267652,0.09474029,0.0004663411,0.1624837,0.1214683],"study_design_scores_gemma":[0.002706652,0.002524764,0.9146512,0.0001027884,0.0001004234,0.0009363518,0.001297056,0.0002913648,0.001065812,0.0006289736,0.07524816,0.0004464711],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9956706,0.003124798,0.0001005854,0.000346318,0.0002047524,0.00007524072,0.000004116578,0.000005454942,0.0004681798],"genre_scores_gemma":[0.9937489,0.004261861,0.0003671444,0.0002429941,0.0006761885,3.286504e-7,0.0000128605,0.0000366912,0.000653004],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3219474,"threshold_uncertainty_score":0.4153365,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03238035576566026,"score_gpt":0.2978337526566363,"score_spread":0.265453396890976,"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."}}