{"id":"W3202396661","doi":"10.1016/j.ajhg.2021.09.005","title":"ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies","year":2021,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Hereditary Neurological Disorders","field":"Neuroscience","cited_by":20,"is_retracted":false,"has_abstract":false,"ca_institutions":"Newborn Screening Ontario; McGill University Health Centre; McMaster University; McGill University; Children's Hospital of Eastern Ontario; Université Laval; University of Ottawa","funders":"National Eye Institute; National Human Genome Research Institute; National Heart, Lung, and Blood Institute; Fonds de Recherche du Québec - Santé; Genome Alberta; Ontario Genomics Institute; Genome British Columbia; Canadian Institutes of Health Research; Genome Canada; Children's Hospital of Eastern Ontario Foundation; Broad Institute; Ontario Research Foundation","keywords":"Hereditary spastic paraplegia; Spasticity; Biology; Spastic; Neuroscience; Corpus callosum; White matter; Phenotype; Allele; Genetics; Gene; Internal medicine; Medicine; Physical medicine and rehabilitation; Magnetic resonance imaging","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":["sts"],"consensus_categories":[],"category_scores_codex":[0.0002226302,0.0001859773,0.0004633255,0.0000449524,0.0001851114,0.00003293392,0.0004273865,0.00002707702,0.00005931465],"category_scores_gemma":[0.001243181,0.0001176683,0.00008840005,0.0005458276,0.002995773,0.00006978758,0.0001401993,0.0003322804,0.000001423099],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000303079,"about_ca_system_score_gemma":0.00009367066,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001787211,"about_ca_topic_score_gemma":0.00007431382,"domain_scores_codex":[0.998006,0.0005039432,0.0005182062,0.0002532322,0.0004127828,0.0003058503],"domain_scores_gemma":[0.9975269,0.001292699,0.0005959867,0.0002979194,0.0001685933,0.0001178788],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002059274,0.004409945,0.5762493,0.0001350291,0.0003855744,0.001013564,0.01697692,0.003321831,0.3837201,0.0007740385,0.001335244,0.009619191],"study_design_scores_gemma":[0.0008899191,0.009057126,0.9545928,0.00005760723,0.0001759151,0.001018255,0.003383905,0.0005617698,0.02564167,0.004282978,0.00002673686,0.0003113384],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9988407,0.0002243707,0.0001146834,0.0005207222,0.000052537,0.0001070669,0.00002837613,0.00001549169,0.00009605834],"genre_scores_gemma":[0.999332,0.00008300037,0.00009591803,0.0004211974,0.00003940324,0.000001644814,0.000001636078,0.00001840284,0.000006789256],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3783435,"threshold_uncertainty_score":0.9997175,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04027233370969949,"score_gpt":0.2710816134947489,"score_spread":0.2308092797850494,"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."}}