{"id":"W4205761424","doi":"10.1007/s10072-021-05815-w","title":"The second family affected with a PRDM8-related disease","year":2022,"lang":"en","type":"article","venue":"Neurological Sciences","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":8,"is_retracted":false,"has_abstract":false,"ca_institutions":"Ontario Brain Institute; Toronto Western Hospital; University of Toronto","funders":"","keywords":"Disease; Neurology; Neuroradiology; Neurosurgery; Clinical phenotype; Phenotype; Mutation","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":[0.000183666,0.00008159689,0.00005301716,0.00001188532,0.00100003,0.00005207474,0.0003972709,0.00002002584,0.00009938953],"category_scores_gemma":[0.00004799091,0.00004174404,0.00004830534,0.0001716154,0.00039331,0.000001791671,0.0002413121,0.00009118457,0.000003394635],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000002417886,"about_ca_system_score_gemma":0.00008688701,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000001458229,"about_ca_topic_score_gemma":0.000009044563,"domain_scores_codex":[0.9990324,0.0001385299,0.00008069326,0.0003353664,0.000187234,0.0002257163],"domain_scores_gemma":[0.9996536,0.00002930024,0.000043473,0.0001533583,0.00001577181,0.0001045225],"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":[0.005748307,0.002022957,0.3150992,0.00003905317,0.0002629905,0.00161376,0.0002194791,0.02192347,0.5789295,0.01315802,0.04064015,0.0203431],"study_design_scores_gemma":[0.0005998176,0.005572943,0.6398913,0.0000011171,0.00002273195,0.00007221356,0.0001106235,0.0009656087,0.0004854613,0.001389147,0.3505759,0.0003132275],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9966443,0.0008667566,0.000003458897,0.0009042515,0.0001108275,0.0001439563,0.00002504169,0.00001449378,0.001286871],"genre_scores_gemma":[0.9976417,0.00002699998,0.00001372111,0.001649032,0.00002598048,0.000051719,0.00001127915,0.000004133472,0.0005753697],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.578444,"threshold_uncertainty_score":0.7691525,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007157088798488927,"score_gpt":0.2083827518358827,"score_spread":0.2012256630373938,"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."}}