{"id":"W2892083666","doi":"10.1038/s41436-018-0290-3","title":"A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay","year":2018,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":35,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University; Centre Hospitalier Universitaire Sainte-Justine; Université de Montréal; University of Calgary; McGill University Health Centre","funders":"","keywords":"Microcephaly; Genetics; Intellectual disability; Microdeletion syndrome; Epilepsy; Copy-number variation; Medicine; Biology; Chromosome; Gene; Neuroscience","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":[0.0001200632,0.002121696,0.0008101985,0.002113668,0.0007889317,0.0006691387,0.0007865255,0.001725653,0.00555566],"category_scores_gemma":[0.001024912,0.0003731544,0.0005754086,0.001238541,0.001212624,0.0004042672,0.00103728,0.0008999543,0.0007481481],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004947039,"about_ca_system_score_gemma":0.0004056511,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00171888,"about_ca_topic_score_gemma":0.002588936,"domain_scores_codex":[0.9997059,0.00002155065,0.00003256085,0.0001179699,0.00008428391,0.00003777211],"domain_scores_gemma":[0.9993736,0.0002065696,0.0001548216,0.0000293018,0.00003321248,0.0002024066],"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":[0.0009167434,0.000114925,0.02475035,0.000180477,0.0004373999,0.7449644,0.000419486,0.001193064,0.1897927,0.003205706,0.005618418,0.02840638],"study_design_scores_gemma":[0.0002292819,0.0003216052,0.05631127,0.00006075308,0.0004484825,0.8810101,0.0002388098,0.001908535,0.04066906,0.002187568,0.01651427,0.0001002838],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9773489,0.002119955,0.008564646,0.001703895,0.0004944231,0.00009772154,0.002666451,0.0005549332,0.00644897],"genre_scores_gemma":[0.9921819,0.0005265742,0.003292581,0.0001760551,0.0001464988,0.00005790591,0.0006688852,0.00005459079,0.00289499],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00555566,"threshold_uncertainty_score":0.0185855,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01097533407288686,"score_gpt":0.2489808465313816,"score_spread":0.2380055124584948,"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."}}