{"id":"W2198653738","doi":"10.1016/j.ajhg.2015.10.012","title":"RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans","year":2015,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Microtubule and mitosis dynamics","field":"Biochemistry, Genetics and Molecular Biology","cited_by":49,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University; Alberta Children's Hospital; University of Calgary; University of Alberta","funders":"Canadian Institutes of Health Research","keywords":"Dwarfism; Microcephaly; Mutation; Genetics; Primary (astronomy); Biology; Medicine; Gene; Physics","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":[0.000306015,0.0001224097,0.0002134893,0.00007995794,0.00006457623,0.00002715606,0.0002553806,0.0000368982,0.000001606577],"category_scores_gemma":[0.00002372244,0.00009641491,0.00006284095,0.00009567792,0.000353101,0.000004158958,0.0000986335,0.0001589578,0.000001416936],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002919992,"about_ca_system_score_gemma":0.0001553379,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002341793,"about_ca_topic_score_gemma":0.00009860521,"domain_scores_codex":[0.9991299,0.0001059223,0.0003277884,0.000128853,0.0001304066,0.0001771457],"domain_scores_gemma":[0.9992049,0.00001351271,0.0003213747,0.0002175025,0.0001360229,0.000106738],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0001671241,0.000145282,0.03333675,0.00001035074,0.0001392788,0.00003025721,0.00203867,0.0003977032,0.9543089,0.00004430669,0.002759081,0.006622275],"study_design_scores_gemma":[0.01243044,0.01791148,0.6735188,0.0001891142,0.0009870778,0.002483384,0.01288989,0.0001371719,0.2155782,0.00460257,0.05704504,0.002226782],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9974455,0.001700062,0.0002914773,0.0001732587,0.00006397702,0.00008429195,0.000006324031,0.000002154691,0.000232933],"genre_scores_gemma":[0.9972233,0.000589904,0.001217208,0.0005376616,0.0002766436,0.000002102872,0.00001357393,0.00002129443,0.0001182952],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7387307,"threshold_uncertainty_score":0.3931686,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01519316824635635,"score_gpt":0.2740993742558614,"score_spread":0.258906206009505,"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."}}