{"id":"W2899004114","doi":"10.1093/hmg/ddy381","title":"Loss-of-function mutations in<i>KIF14</i>cause severe microcephaly and kidney development defects in humans and zebrafish","year":2018,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Renal and related cancers","field":"Biochemistry, Genetics and Molecular Biology","cited_by":49,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; University of British Columbia; Queen's University; Institute for Research in Immunology and Cancer","funders":"Fonds de Recherche du Québec - Santé; Natural Sciences and Engineering Research Council of Canada; Canadian Cancer Society Research Institute; Canadian Institutes of Health Research; GIS-Institut des Maladies Rares; Nierstichting; Fondation pour la Recherche Médicale; Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung","keywords":"Biology; Cilium; Ciliopathy; Ciliogenesis; Midbody; Ciliopathies; Microcephaly; Cytokinesis; Zebrafish; Mitosis; Genetics; Cell biology; Phenotype; Cell division; Cell; 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":[0.00008439186,0.0001502068,0.0001334999,0.0001097733,0.00007318691,0.00001778748,0.00007840771,0.0001692231,0.000008624864],"category_scores_gemma":[0.00001777953,0.0001562932,0.00002747976,0.0001213075,0.0002137037,0.000003597645,0.00008588876,0.00009368124,0.000001831672],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001804185,"about_ca_system_score_gemma":0.00009642995,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001800641,"about_ca_topic_score_gemma":0.0002369905,"domain_scores_codex":[0.9990896,0.00004086104,0.0002537727,0.0003246558,0.00009365233,0.0001974403],"domain_scores_gemma":[0.9996028,0.000003596953,0.00006945891,0.0001635269,0.00006638996,0.00009424327],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00003957666,0.00005341837,0.04315633,0.00006095944,0.0000653255,0.00001854606,0.0004268109,0.0001052548,0.9550883,0.00008847321,0.0001568336,0.0007401945],"study_design_scores_gemma":[0.002702134,0.0007551146,0.3004601,0.0001863875,0.00008631765,0.00004779258,0.0001361987,0.00004008285,0.6828487,0.0009084672,0.01125847,0.0005702626],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9969442,0.001842484,0.00045747,0.00002259904,0.00005110839,0.0001655521,0.000005064599,0.000004938765,0.0005066032],"genre_scores_gemma":[0.9982795,0.0003383337,0.0008151439,0.0003292983,0.0000382423,0.00001261508,0.00007904154,0.00002153784,0.0000863081],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2722396,"threshold_uncertainty_score":0.6373453,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008494718029196222,"score_gpt":0.2417842194188426,"score_spread":0.2332895013896464,"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."}}