{"id":"W3206376282","doi":"10.1016/j.ajhg.2021.08.003","title":"Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss","year":2021,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":42,"is_retracted":false,"has_abstract":false,"ca_institutions":"Ottawa Hospital; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"Medical Research Council; Canadian Institutes of Health Research; National Eye Institute; Fondazione Bambino Gesù; Ministerium für Wissenschaft, Forschung und Kunst Baden-Württemberg; National Heart, Lung, and Blood Institute; Ministero della Salute; Canada Foundation for Innovation; National Institutes of Health; Canada Research Chairs; Simons Foundation Autism Research Initiative; Foundation for Barnes-Jewish Hospital; National Center for Advancing Translational Sciences; Wellcome Trust; Eberhard Karls Universität Tübingen; Hospital Research Foundation; Ataxia UK; National Institute of Neurological Disorders and Stroke; National Institute for Health and Care Research; JPB Foundation; UCLH Biomedical Research Centre; National Health and Medical Research Council; Cerebral Palsy Alliance Research Foundation","keywords":"Cerebral palsy; Epilepsy; Dystonia; Medicine; Intellectual disability; Audiology; Spastic cerebral palsy; Physical medicine and rehabilitation; Spastic; Pediatrics; Psychiatry","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":[0.0002781157,0.0001602609,0.000304553,0.00005078391,0.00009648527,0.00005388799,0.0003156184,0.00003411633,0.00002707377],"category_scores_gemma":[0.0001621607,0.000127125,0.0001058837,0.0001631148,0.0004537562,0.000002973189,0.0003563264,0.0001752291,0.000003868778],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003018867,"about_ca_system_score_gemma":0.0001366196,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003442963,"about_ca_topic_score_gemma":0.0002056487,"domain_scores_codex":[0.998755,0.0001755851,0.0003968857,0.0002454561,0.0001499653,0.0002771007],"domain_scores_gemma":[0.9991222,0.00005100467,0.0001864217,0.0003616545,0.0001170605,0.0001616307],"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":[0.0008610754,0.0008708555,0.3699293,0.00008514738,0.0005103914,0.0005360501,0.00335267,0.00415104,0.5637066,0.0001799357,0.001267136,0.05454977],"study_design_scores_gemma":[0.001546677,0.004184002,0.9548994,0.0001368172,0.0001609453,0.002007725,0.00385322,0.0001913298,0.02825074,0.001294245,0.002800596,0.0006743515],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9971059,0.00165792,0.0004000067,0.0005992792,0.00009732485,0.00008200425,0.00001304435,0.000001907698,0.00004264187],"genre_scores_gemma":[0.997817,0.0007057284,0.0006931416,0.0004172559,0.0002923847,0.000001961859,0.000006975361,0.00002391697,0.00004164439],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.58497,"threshold_uncertainty_score":0.5184008,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01747951639646544,"score_gpt":0.2750166714790146,"score_spread":0.2575371550825492,"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."}}