{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001408659,0.001222788,0.0004124537,0.0007679493,0.0004665289,0.0002761782,0.0003455,0.0005700453,0.002174836],"category_scores_gemma":[0.0005844323,0.0001256153,0.0003268867,0.0003524107,0.0006279264,0.0001267592,0.0004621989,0.0004471609,0.0003399968],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000183269,"about_ca_system_score_gemma":0.0002095496,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001139248,"about_ca_topic_score_gemma":0.001009976,"domain_scores_codex":[0.9998096,0.00002503085,0.00003015055,0.00006242636,0.0000415771,0.0000311948],"domain_scores_gemma":[0.9996856,0.000104634,0.00008706947,0.00001942253,0.00003454745,0.00006859097],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.001392409,0.0004511439,0.1603776,0.0001955576,0.0003792522,0.4214477,0.001629016,0.0008939749,0.384426,0.001895514,0.002197354,0.02471446],"study_design_scores_gemma":[0.0002733487,0.001028244,0.3926485,0.00007086573,0.0003631377,0.5524212,0.0005191825,0.002269742,0.04244231,0.0008465522,0.007049181,0.00006778151],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.996518,0.0001650303,0.001518034,0.0001191714,0.0000227925,0.00003862429,0.0002941447,0.00004244585,0.001281696],"genre_scores_gemma":[0.998328,0.00008943603,0.0007334576,0.00008785494,0.00004009887,0.00001683085,0.0002899679,0.00001707771,0.0003972312],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002174836,"threshold_uncertainty_score":0.007275522,"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."}}