{"id":"W2118286472","doi":"10.1038/ng.3122","title":"Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy","year":2014,"lang":"en","type":"article","venue":"Nature Genetics","topic":"Microtubule and mitosis dynamics","field":"Biochemistry, Genetics and Molecular Biology","cited_by":183,"is_retracted":false,"has_abstract":false,"ca_institutions":"Hospital for Sick Children; University of Toronto","funders":"Academy of Medical Sciences; National Institute for Health and Care Research; Wellcome Trust","keywords":"Ciliogenesis; Biology; Centriole; Microcephaly; Cilium; Ciliopathies; Genetics; Biogenesis; Phenotype; Regulator; Gene; Cell biology; Microtubule","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":[0.0001393682,0.0001689717,0.0001784494,0.0001002388,0.00004034704,0.00001677679,0.0001557928,0.0004697666,0.000004479535],"category_scores_gemma":[0.00008241022,0.0001689252,0.0000565811,0.0001440888,0.00007624631,0.000003006863,0.0001133841,0.0001706729,0.000001232088],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001104017,"about_ca_system_score_gemma":0.00004282814,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000007784931,"about_ca_topic_score_gemma":0.000173978,"domain_scores_codex":[0.9990097,0.00005713809,0.000256789,0.0003440891,0.0001011572,0.0002310977],"domain_scores_gemma":[0.9994047,0.00001518234,0.0001055796,0.0002803663,0.0001224545,0.0000716712],"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":[0.00002627114,0.00004099747,0.09361668,0.00006033833,0.00002716847,0.00000215586,0.00009927481,0.00002479757,0.9048609,0.000112091,0.0004954551,0.0006338313],"study_design_scores_gemma":[0.000850575,0.0001487429,0.03015679,0.0000461758,0.00005279425,0.00003171917,0.0000953987,0.0002106666,0.9555281,0.0001627335,0.01244621,0.0002700573],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9952088,0.003738767,0.000458034,0.0001304615,0.0001045969,0.0001702951,0.00005690453,0.000006068879,0.0001260594],"genre_scores_gemma":[0.9943233,0.0008437458,0.004192553,0.0002359521,0.0001381207,0.000006704528,0.0001384593,0.00002666366,0.00009454211],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.06345989,"threshold_uncertainty_score":0.688857,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004631866225586282,"score_gpt":0.2159419410296865,"score_spread":0.2113100748041002,"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."}}