{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004804088,0.001985878,0.0004160627,0.001674127,0.001017014,0.0006000003,0.0008665175,0.001844692,0.005079921],"category_scores_gemma":[0.001342176,0.0003280559,0.000610361,0.001210279,0.0007691449,0.0002977145,0.00100372,0.0007920963,0.0007526338],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005417771,"about_ca_system_score_gemma":0.000418163,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003723505,"about_ca_topic_score_gemma":0.005200862,"domain_scores_codex":[0.9993435,0.0001521661,0.00009041341,0.0001364563,0.0001754621,0.0001019843],"domain_scores_gemma":[0.9991757,0.0002436604,0.0002526701,0.00003718569,0.00006101806,0.0002297373],"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":[0.006300241,0.00105012,0.2561849,0.0002174081,0.001000358,0.3893618,0.001473462,0.002635141,0.2982316,0.00511268,0.006754349,0.031678],"study_design_scores_gemma":[0.0005636085,0.001248418,0.540626,0.0001550782,0.0008124131,0.40824,0.001124796,0.009048705,0.0273554,0.003427633,0.007254832,0.0001431203],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9917992,0.0005304105,0.001819937,0.0007252694,0.00009662754,0.00003976236,0.0007995502,0.0001224631,0.004066746],"genre_scores_gemma":[0.9975669,0.00008410519,0.0006552021,0.0002020099,0.00004866539,0.00001061865,0.0002817962,0.00002808522,0.001122772],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005079921,"threshold_uncertainty_score":0.01699406,"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."}}