{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00007008732,0.0004853603,0.0001710004,0.0006542151,0.0002389025,0.0001518027,0.00009666196,0.0002372839,0.001415476],"category_scores_gemma":[0.0001534147,0.0001356578,0.0001509396,0.0002360838,0.000397351,0.00009129816,0.0002952624,0.0002676147,0.0001695392],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001589193,"about_ca_system_score_gemma":0.0001380369,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008024391,"about_ca_topic_score_gemma":0.001789022,"domain_scores_codex":[0.9999144,0.00001081355,0.000009089257,0.00002954709,0.000022186,0.00001401158],"domain_scores_gemma":[0.9998915,0.00002409375,0.00004179297,0.00001073644,0.000008200942,0.00002361449],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"case_report","study_design_scores_codex":[0.0003840939,0.00003749554,0.0222233,0.0002028572,0.0001441559,0.03521825,0.0002530905,0.00026171,0.9315262,0.0005856458,0.0004556291,0.008707572],"study_design_scores_gemma":[0.00005690178,0.0007013508,0.3763591,0.00005124021,0.000217761,0.1295154,0.0003123146,0.0006731449,0.4815217,0.0006127937,0.009946401,0.00003198342],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9952649,0.00162107,0.001371362,0.00007089404,0.00002606184,0.00001771126,0.0002798675,0.00004799631,0.001300099],"genre_scores_gemma":[0.9972187,0.0009737024,0.0004249456,0.00002578381,0.000007125036,0.000006396161,0.0002348288,0.000008959795,0.001099462],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001415476,"threshold_uncertainty_score":0.004735291,"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."}}