{"id":"W2142055788","doi":"10.1002/ajmg.10587","title":"Autosomal recessive alobar holoprosencephaly with essentially normal faces","year":2002,"lang":"en","type":"article","venue":"American Journal of Medical Genetics","topic":"Hedgehog Signaling Pathway Studies","field":"Biochemistry, Genetics and Molecular Biology","cited_by":17,"is_retracted":false,"has_abstract":true,"ca_institutions":"Dalhousie University","funders":"","keywords":"Holoprosencephaly; Cyclopia; Medicine; Anatomy; Biology; Genetics; Pregnancy; Fetus","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":[0.0004058286,0.0001963192,0.0003512131,0.00006180871,0.00008147095,0.00002752766,0.0005514081,0.0001212162,0.0001189218],"category_scores_gemma":[0.0003811609,0.0001439181,0.0001057242,0.0002041475,0.0008946001,0.000004920494,0.0001201154,0.0003141348,0.00001106592],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001323861,"about_ca_system_score_gemma":0.000198514,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000006208432,"about_ca_topic_score_gemma":0.00001311252,"domain_scores_codex":[0.9978275,0.0001490058,0.0004529633,0.0002285963,0.001002359,0.0003396325],"domain_scores_gemma":[0.9986068,0.00005188521,0.000467542,0.0002108613,0.0002998648,0.0003630524],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0008114971,0.001138116,0.06717094,0.00009205154,0.002317582,0.002290641,0.003559683,0.00197052,0.3422433,0.00004215441,0.01619265,0.5621709],"study_design_scores_gemma":[0.01046691,0.0446166,0.02953709,0.0009431402,0.00084759,0.009273486,0.01026037,0.002318082,0.6348265,0.00009801226,0.2539403,0.002871865],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9861303,0.003776959,0.007680882,0.001767548,0.0002119898,0.00006114299,0.00000592881,0.000007378077,0.0003578953],"genre_scores_gemma":[0.9888088,0.003402288,0.006260979,0.0006846507,0.0006958127,0.000002614003,0.000002958304,0.00002579375,0.0001161592],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5592991,"threshold_uncertainty_score":0.5868809,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0105849634109084,"score_gpt":0.2550344712047569,"score_spread":0.2444495077938485,"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."}}