{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0006134236,0.005082554,0.001938129,0.003667909,0.003141732,0.001611153,0.00215858,0.007867958,0.01079863],"category_scores_gemma":[0.004351316,0.0007146557,0.002077339,0.001345652,0.00216877,0.001211825,0.002114897,0.003617185,0.001746862],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001025475,"about_ca_system_score_gemma":0.001141855,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004006855,"about_ca_topic_score_gemma":0.001749893,"domain_scores_codex":[0.9989254,0.0001566909,0.00008035934,0.0003622784,0.0001946892,0.0002805328],"domain_scores_gemma":[0.9969051,0.001105517,0.0002681845,0.0002651976,0.0002613474,0.001194524],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.00005883966,0.00007173351,0.002423085,0.00002694989,0.00001243521,0.9913446,0.0003124085,0.00007194302,0.002115729,0.0004907499,0.0007438672,0.00232767],"study_design_scores_gemma":[0.00001884282,0.00007237941,0.004346806,0.00001697241,0.00002711382,0.9910431,0.0001774088,0.0001947173,0.001085874,0.0004294104,0.002565708,0.0000218096],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9166716,0.00376955,0.009037104,0.02185274,0.003722235,0.0004087399,0.003110222,0.0005251678,0.04090267],"genre_scores_gemma":[0.9689961,0.001166096,0.003508795,0.002935182,0.002100268,0.000111772,0.0006696975,0.0001814537,0.02033072],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01079863,"threshold_uncertainty_score":0.036125,"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."}}