{"id":"W3008970786","doi":"10.1016/j.neuron.2020.01.027","title":"Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly","year":2020,"lang":"es","type":"article","venue":"Neuron","topic":"RNA regulation and disease","field":"Biochemistry, Genetics and Molecular Biology","cited_by":35,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of Child Health and Human Development; National Heart, Lung, and Blood Institute; National Health and Medical Research Council; Center for Mendelian Genomics, University of Washington; National Institute of Neurological Disorders and Stroke; School of Medicine, New York University; BioMarin Pharmaceutical; National Institutes of Health; National Yang Ming University; National Health Research Institutes; Chang Gung Medical Foundation; GlaxoSmithKline; Zogenix; Ministry of Education of the People's Republic of China; Intellectual and Developmental Disabilities Research Center; Intellectual and Developmental Disabilities Research Center, Washington University School of Medicine in St. Louis; UCB; Dravet Syndrome Foundation; Eisai; Cynthia and George Mitchell Foundation; University of Washington; Novartis; Ministry of Science and Technology of the People's Republic of China; National Human Genome Research Institute; American Epilepsy Society","keywords":"Lissencephaly; Biology; Centrosome; Genetics; Gene; 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":[0.00005184288,0.0002056593,0.0001971356,0.00003703072,0.00004293806,0.0000642614,0.0001248559,0.0001555307,0.00005387676],"category_scores_gemma":[0.00008961634,0.0002097365,0.00006976924,0.0001120316,0.0001044663,0.000008999919,0.0001347816,0.0000988352,0.0000249757],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000008342507,"about_ca_system_score_gemma":0.0001133702,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001880141,"about_ca_topic_score_gemma":0.000008928433,"domain_scores_codex":[0.998712,0.0001167873,0.0002639827,0.0005394503,0.0001207691,0.0002469799],"domain_scores_gemma":[0.9993477,0.000007951862,0.00008603102,0.0002361953,0.0000266124,0.0002955167],"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":[0.0007671525,0.0001027521,0.05704755,0.00009704624,0.00001571931,0.000313859,0.0001767842,0.00002044065,0.934683,0.00003890464,0.0002931086,0.00644366],"study_design_scores_gemma":[0.002478247,0.0008136984,0.9769737,0.00004211686,0.00007319907,0.00005059067,0.00008029161,0.001616812,0.0107719,0.00001166147,0.006737794,0.0003499633],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9961036,0.001686141,0.00001267638,0.001484551,0.0001600443,0.0002785542,0.00009986985,0.00001036187,0.000164234],"genre_scores_gemma":[0.99734,0.0007516604,0.00003307653,0.001405312,0.0002414546,0.000006952512,0.00005786093,0.00002725769,0.0001364538],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.9239111,"threshold_uncertainty_score":0.8552806,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01169697323877905,"score_gpt":0.2389821271870798,"score_spread":0.2272851539483007,"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."}}