{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002358685,0.0007728291,0.0003310822,0.001491946,0.000289363,0.0002886709,0.0003373393,0.0004774384,0.001698299],"category_scores_gemma":[0.0006612641,0.0001345648,0.0001761995,0.0004475355,0.0004992861,0.0001975458,0.0006867641,0.0002213778,0.0003383232],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001742023,"about_ca_system_score_gemma":0.0003054602,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005965323,"about_ca_topic_score_gemma":0.0007702737,"domain_scores_codex":[0.9997541,0.0000387092,0.00003535052,0.00008762056,0.00005699529,0.0000272023],"domain_scores_gemma":[0.9997346,0.00006589491,0.0001054895,0.00001459287,0.00002799041,0.00005144807],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001519551,0.0001707244,0.5511571,0.0004942478,0.0001969666,0.09537594,0.001031484,0.00099965,0.2735926,0.001940305,0.001474788,0.0720467],"study_design_scores_gemma":[0.00005860881,0.0003031203,0.6172875,0.0001057998,0.0001618187,0.3545749,0.0004244645,0.001314116,0.01903227,0.0008222265,0.005883466,0.0000316698],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9925776,0.002848509,0.001737886,0.0001552913,0.000007281168,0.00002129557,0.0004716244,0.00006175497,0.002118675],"genre_scores_gemma":[0.9958909,0.0008791869,0.002061561,0.00007653,0.00001814967,0.00002116834,0.0006108522,0.00001857169,0.0004231726],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001698299,"threshold_uncertainty_score":0.005681336,"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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