{"id":"W4402553736","doi":"10.1016/j.gim.2024.101251","title":"Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders","year":2024,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Chromatin Remodeling and Cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"Kingston Health Sciences Centre; Queen's University; Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"National Institute of Neurological Disorders and Stroke; National Human Genome Research Institute; Medical Research Council; School of Medicine, University of Missouri; University of Chicago Medicine; Seventh Framework Programme; Perelman School of Medicine, University of Pennsylvania; Victorian Brain Bank; Centre de recherche du CHU Sainte-Justine; Fakultet Medicinskih Nauka, Univerziteta U Kragujevcu; University of Isfahan; Université Claude Bernard Lyon 1; Radboud Universitair Medisch Centrum; Faculty of Health Sciences, Queen's University; Oxford University Hospitals NHS Foundation Trust; Eunice Kennedy Shriver National Institute of Child Health and Human Development; NIHR Sheffield Biomedical Research Centre; Shahid Beheshti University of Medical Sciences; National Institute of General Medical Sciences; National and Kapodistrian University of Athens; Zahedan University of Medical Sciences; Centre National de la Recherche Scientifique; Mashhad University of Medical Sciences; Great Ormond Street Hospital for Children; Univerzita Karlova v Praze; Fonds De La Recherche Scientifique - FNRS; Islamic Azad University; Radboud Universiteit; St. George's, University of London; Institut National de la Santé et de la Recherche Médicale; University of Nottingham; Rosetrees Trust; University of Oxford; Queen's University; King Faisal Specialist Hospital and Research Centre; International Rett Syndrome Foundation; Guarantors of Brain; Parkinson's UK; National Institute for Health and Care Research; Alexandria University; Ospedale Pediatrico Bambino Gesù; FP7 Ideas: European Research Council; UCLH Biomedical Research Centre; Pirogov Russian National Research Medical University; University of Chicago; Isfahan University of Medical Sciences; Multiple System Atrophy Coalition; Università degli Studi di Genova; Children's Mercy Hospital; Centre Hospitalier Universitaire de Nantes; Murdoch Children's Research Institute; University of California, San Diego; Hospices Civils de Lyon; Friedreich's Ataxia Research Alliance; NIHR Biomedical Research Centre, Royal Marsden NHS Foundation Trust/Institute of Cancer Research; Michael J. Fox Foundation for Parkinson's Research; Parkinson's Foundation; Nottingham University Hospitals NHS Trust; Kuwait University; Multiple System Atrophy Trust; NYU Grossman School of Medicine; University of Missouri; Vanderbilt University Medical Center; University College London; Uehara Memorial Foundation; Wellcome Trust; York University; Hadassah Medical Organization; National Institutes of Health; Tehran University of Medical Sciences and Health Services; Children’s Hospital of Wisconsin Research Institute; University of Pennsylvania; National Research Centre; Fidelity Foundation; Cerebral Palsy Alliance; Hebrew University of Jerusalem; Muscular Dystrophy Association; Vanderbilt Kennedy Center, Vanderbilt University Medical Center; Vanderbilt University; University of Baghdad; European Cooperation in Science and Technology","keywords":"Phenotype; Genetics; Biology; Disease; Medicine; Pathology; Gene","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0002960947,0.0001102598,0.0001761786,0.00005919404,0.00002220019,0.000005944587,0.00006043601,0.0001411804,0.0000127914],"category_scores_gemma":[0.0001519529,0.00009095682,0.0000219022,0.00009363957,0.0002811485,0.000001680343,0.00006711914,0.0001026559,5.518364e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000008885881,"about_ca_system_score_gemma":0.00008657912,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002156667,"about_ca_topic_score_gemma":0.00007122195,"domain_scores_codex":[0.9989756,0.00005613131,0.0004407527,0.0003019991,0.0001053477,0.000120213],"domain_scores_gemma":[0.9997145,0.00004901178,0.00005129576,0.0001012342,0.00002898308,0.00005499378],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.00008611417,0.00004517542,0.06124901,0.0002349772,0.00009868426,0.00001311649,0.0008538484,0.00032076,0.3621647,0.00003990711,0.001898387,0.5729953],"study_design_scores_gemma":[0.01530466,0.004624215,0.5819609,0.003498774,0.0004240185,0.0006009163,0.003181118,0.215945,0.09228893,0.00479932,0.07566211,0.001710037],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9731978,0.02255212,0.002967174,0.000733053,0.0002240801,0.0001258362,0.000004311563,0.00000592938,0.000189752],"genre_scores_gemma":[0.9805892,0.01470189,0.004271464,0.0001105292,0.0001264847,0.000006628625,0.00003389865,0.00001533048,0.0001445907],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5712852,"threshold_uncertainty_score":0.3709111,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01263889120078924,"score_gpt":0.324873362245402,"score_spread":0.3122344710446127,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). 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