{"id":"W2021049097","doi":"10.1097/00019605-200009010-00003","title":"New autosomal dominant syndrome reminiscent of Coffin-Siris syndrome and Brachymorphism-Onychodysplasia-Dysphalangism syndrome","year":2000,"lang":"en","type":"article","venue":"Clinical Dysmorphology","topic":"Chromatin Remodeling and Cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":12,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children","funders":"","keywords":"Clinodactyly; Medicine; Brachydactyly; Hypertelorism; Phalanx; Anatomy; Syndactyly; Hypoplasia; Craniofacial; Palpebral fissure; Short stature; Pediatrics","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","insufficient_payload"],"consensus_categories":[],"category_scores_codex":[0.0006434087,0.0003937294,0.0009409359,0.00007786322,0.00009429771,0.00002019651,0.000465235,0.0007561155,0.001292991],"category_scores_gemma":[0.000197207,0.0003683416,0.0003249011,0.0001623292,0.0005413215,0.000009802995,0.0002114131,0.0004004133,0.0001589671],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002134299,"about_ca_system_score_gemma":0.0002406928,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00009533453,"about_ca_topic_score_gemma":0.00001397063,"domain_scores_codex":[0.9966254,0.0002462676,0.00127547,0.001017546,0.0002397341,0.0005956226],"domain_scores_gemma":[0.9981483,0.0001596293,0.0003163311,0.000895644,0.00007053776,0.0004096039],"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":[0.004980696,0.003533167,0.1475057,0.0009019279,0.003324018,0.01684969,0.000476036,0.0009159915,0.2469037,0.001169359,0.1088395,0.4646002],"study_design_scores_gemma":[0.01469427,0.01339793,0.7008079,0.0005641425,0.0007246919,0.1040056,0.00008553363,0.0006981159,0.009866417,0.001389191,0.1513814,0.002384806],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9938934,0.002632538,0.0005258785,0.0006973841,0.0006457497,0.0003135897,0.00006525942,0.00003852872,0.001187711],"genre_scores_gemma":[0.9878107,0.001388031,0.00314881,0.0006088007,0.000182929,0.00001765215,0.0001291919,0.00006409103,0.006649761],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5533022,"threshold_uncertainty_score":0.9998769,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01520632889140605,"score_gpt":0.2957403608430505,"score_spread":0.2805340319516444,"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."}}