{"id":"W4390837749","doi":"10.1093/brain/awae010","title":"Novel loss-of-function variants expand <i>ABCC9</i>-related intellectual disability and myopathy syndrome","year":2024,"lang":"en","type":"article","venue":"Brain","topic":"Cardiac Ischemia and Reperfusion","field":"Medicine","cited_by":12,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre Hospitalier de l’Université de Montréal","funders":"National Heart, Lung, and Blood Institute; Medical Research Council; Directorate for Biological Sciences; National Institutes of Health; King Faisal Specialist Hospital and Research Centre; Brain Research UK; Deutsche Forschungsgemeinschaft; University College London; Alzheimer’s Research UK; Rosetrees Trust; Multiple System Atrophy Trust; Wellcome Trust; Ataxia UK; National Institute for Health and Care Research; Great Ormond Street Hospital Charity; Biotechnology and Biological Sciences Research Council; Michael J. Fox Foundation for Parkinson's Research","keywords":"Microcephaly; Genetics; Loss function; Intellectual disability; Biology; Phenotype; Psychomotor learning; Corpus callosum; Myopathy; Neuroscience; Gene; Cognition","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":[0.0003198396,0.0001211918,0.0002615323,0.00005882463,0.00003803482,0.00001729184,0.00002700158,0.0001445284,0.0002477842],"category_scores_gemma":[0.000376456,0.0000924837,0.0001177411,0.0002611302,0.0001997416,0.00006759831,0.00005880362,0.000206672,0.00002993405],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004286618,"about_ca_system_score_gemma":0.0000625109,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003585159,"about_ca_topic_score_gemma":0.000001801982,"domain_scores_codex":[0.9991166,0.00002688752,0.0002417156,0.0003027304,0.0001717686,0.0001403048],"domain_scores_gemma":[0.9993299,0.0003203243,0.00002383453,0.0002055161,0.0000301739,0.00009030519],"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":[0.0004373086,0.0003499722,0.01154907,0.0007962022,0.0002453885,0.0001786439,0.002590957,0.000003505923,0.9573842,0.000571942,0.00580581,0.020087],"study_design_scores_gemma":[0.01654983,0.005666202,0.7235201,0.006498942,0.002493567,0.03157317,0.002596453,0.01130898,0.1224008,0.002716805,0.07263105,0.002044111],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9941342,0.001118519,0.0008881417,0.001120044,0.0006199471,0.0002446281,0.0000168564,0.00009101972,0.001766602],"genre_scores_gemma":[0.9982337,0.00005126277,0.00008910125,0.0000993344,0.00008594454,0.000006730677,0.00003105558,0.00001971799,0.001383189],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8349834,"threshold_uncertainty_score":0.3771376,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0107462192950561,"score_gpt":0.2520165812572035,"score_spread":0.2412703619621474,"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."}}