{"id":"W1989010389","doi":"10.1002/ajmg.a.36172","title":"The hutterite variant of treacher collins syndrome: A 28‐year‐old story solved","year":2013,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Craniofacial Disorders and Treatments","field":"Biochemistry, Genetics and Molecular Biology","cited_by":8,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Health Services; Alberta Children's Hospital; University of Calgary; University of Alberta","funders":"Canadian Institutes of Health Research; Ministry of Food and Drug Safety","keywords":"Treacher Collins syndrome; Genetics; Mendelian inheritance; Population; Founder effect; Mutation; Biology; Demography; Genotype; Gene","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0003974302,0.0001348649,0.000283997,0.00003007571,0.00008263339,0.00002320551,0.0003690577,0.00009043399,0.0001281562],"category_scores_gemma":[0.0001458209,0.00008909808,0.0001720748,0.0001049881,0.0005258516,0.000002854715,0.0000766961,0.0001835268,0.00001133733],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001160975,"about_ca_system_score_gemma":0.0002097052,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00006891869,"about_ca_topic_score_gemma":0.00002234995,"domain_scores_codex":[0.9985341,0.0001453048,0.0004094272,0.0001407528,0.0005321807,0.0002382269],"domain_scores_gemma":[0.9989258,0.00004736215,0.0003568185,0.0002496182,0.0001557935,0.0002646092],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.001063949,0.003446643,0.1097311,0.0000618039,0.004855551,0.0006583786,0.002181961,0.0001312085,0.09808273,0.000330582,0.06662681,0.7128293],"study_design_scores_gemma":[0.01383855,0.02357413,0.4225858,0.000412987,0.0008714086,0.002077819,0.006991554,0.0006600775,0.008734037,0.001021011,0.5177735,0.001459169],"study_design_candidate":"design_other","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9958762,0.001322409,0.0005189791,0.001780948,0.0002239554,0.0001217618,0.000009013595,0.000001978355,0.0001447412],"genre_scores_gemma":[0.9941052,0.004647491,0.0004557162,0.0003445692,0.0001266942,0.000009801283,0.000006057534,0.00001872783,0.0002857095],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7113702,"threshold_uncertainty_score":0.3633314,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007026312511561122,"score_gpt":0.2479926010982095,"score_spread":0.2409662885866483,"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."}}