{"id":"W2963296758","doi":"10.1093/brain/awz210","title":"Cohesin complex-associated holoprosencephaly","year":2019,"lang":"en","type":"article","venue":"Brain","topic":"Hedgehog Signaling Pathway Studies","field":"Biochemistry, Genetics and Molecular Biology","cited_by":63,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children’s Health Research Institute","funders":"National Institutes of Health; Doris Duke Charitable Foundation; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; Wellcome Trust; National Institute of Environmental Health Sciences; KWF Kankerbestrijding","keywords":"Holoprosencephaly; Cohesin; Neuroscience; Medicine; Psychology; Biology; Genetics; Pregnancy; Meiosis","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":[0.0002126005,0.0001103344,0.0001330944,0.00002205076,0.00005175707,0.000014265,0.0001408414,0.00007749487,0.00007187812],"category_scores_gemma":[0.0002343035,0.0001067664,0.00006141286,0.00008019079,0.00005405542,0.000001282632,0.0000863044,0.00005317846,0.0002584474],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001209156,"about_ca_system_score_gemma":0.00003654572,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001152586,"about_ca_topic_score_gemma":0.00002364607,"domain_scores_codex":[0.9992275,0.00006026175,0.000124442,0.0002648479,0.0001020961,0.0002208086],"domain_scores_gemma":[0.9996369,0.00002612646,0.00005100718,0.0001900654,0.00005427636,0.00004155947],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00001457337,0.00003503485,0.01224899,0.000005903278,0.00004375139,0.000003637635,0.00005564841,0.00001466075,0.9640849,0.00007346205,0.02295085,0.0004685751],"study_design_scores_gemma":[0.002366988,0.0008347588,0.2628072,0.00004401029,0.00002112329,0.00002078213,0.0003477068,0.0001784109,0.3649082,0.0002764813,0.3674106,0.0007836451],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9928315,0.0001701061,0.00009608989,0.0006032095,0.0001052518,0.0001661941,0.00002193855,0.0000306397,0.005975118],"genre_scores_gemma":[0.9919478,0.000006829111,0.0002136955,0.001431185,0.00007812067,0.000008708343,0.00009309855,0.00001838373,0.006202237],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5991767,"threshold_uncertainty_score":0.4353808,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01706632607329625,"score_gpt":0.255969473842661,"score_spread":0.2389031477693647,"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."}}