{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001811514,0.001898364,0.0004522803,0.001711493,0.0006070692,0.0003889107,0.0006350928,0.0009848324,0.002017361],"category_scores_gemma":[0.0008004877,0.0003927512,0.000512636,0.0006152874,0.001490684,0.0002699307,0.0009335427,0.0009865307,0.0003891651],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0008839933,"about_ca_system_score_gemma":0.0006539517,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002778675,"about_ca_topic_score_gemma":0.00334751,"domain_scores_codex":[0.9996713,0.00004497259,0.00003838808,0.00007072173,0.0001330545,0.00004146666],"domain_scores_gemma":[0.9989154,0.000307399,0.0004061755,0.00004731551,0.0000441489,0.0002794605],"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":[0.001488637,0.0001343714,0.007126219,0.0001999739,0.0002218929,0.02671223,0.0001807658,0.00380826,0.94537,0.001891225,0.001895293,0.01097121],"study_design_scores_gemma":[0.000583065,0.0006783323,0.1001318,0.0001093033,0.0005332503,0.06912477,0.0004292956,0.01753994,0.7972068,0.002831584,0.01063708,0.000194859],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9857831,0.0009168772,0.007463478,0.0006454342,0.0001965709,0.00006504601,0.001861018,0.000633129,0.002435231],"genre_scores_gemma":[0.9929286,0.0004398479,0.003179432,0.00008975631,0.00004736989,0.000041048,0.0005511701,0.0001198421,0.002602985],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002778675,"threshold_uncertainty_score":0.006748676,"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."}}