{"id":"W4224945122","doi":"10.1002/ana.26381","title":"Biallelic Variants in the Ectonucleotidase <scp><i>ENTPD1</i></scp> Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia","year":2022,"lang":"en","type":"article","venue":"Annals of Neurology","topic":"Hereditary Neurological Disorders","field":"Neuroscience","cited_by":9,"is_retracted":false,"has_abstract":true,"ca_institutions":"Newborn Screening Ontario; Children's Hospital of Eastern Ontario; Dalhousie University; University of Ottawa","funders":"National Institute of Neurological Disorders and Stroke; National Human Genome Research Institute; Canadian Institutes of Health Research; American Brain Foundation; Erasmus Universitair Medisch Centrum Rotterdam; Conselho Nacional de Desenvolvimento Científico e Tecnológico; International Rett Syndrome Foundation; Medical Research Council; Spastic Paraplegia Foundation; National Institutes of Health; Brain and Behavior Research Foundation; Ontario Genomics; U.S. Department of Defense; Brain Research UK; Genome Canada; Cerebral Palsy Alliance Research Foundation; Cerebral Palsy Alliance; Genome British Columbia; National Institute of General Medical Sciences; Ontario Genomics Institute; Muscular Dystrophy Association; Uehara Memorial Foundation; Baylor-Hopkins Center for Mendelian Genomics; Genome Alberta; Johns Hopkins University; European Commission","keywords":"Genetics; Hereditary spastic paraplegia; Intellectual disability; Spastic; Locus (genetics); Biology; Neurodevelopmental disorder; White matter; Medicine; Phenotype; Gene; Cerebral palsy; 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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0004478087,0.0003733512,0.0004495338,0.0001545828,0.0003566512,0.00005122747,0.0008528504,0.00006511788,0.0007666516],"category_scores_gemma":[0.001260867,0.0002813857,0.00007732988,0.0007538904,0.001292964,0.0001867044,0.000785834,0.0008188235,0.00002907289],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00000770116,"about_ca_system_score_gemma":0.00005190964,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001754923,"about_ca_topic_score_gemma":0.0004456964,"domain_scores_codex":[0.9948586,0.002268459,0.0005714136,0.0009524352,0.0005332406,0.0008159002],"domain_scores_gemma":[0.9952724,0.003866363,0.000187111,0.0005180843,0.00002667675,0.0001293392],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001030923,0.002252876,0.966346,0.00009548949,0.00003148364,0.001585804,0.005985084,0.001770808,0.001696123,0.0008546693,0.01805089,0.0002998689],"study_design_scores_gemma":[0.000917542,0.002590947,0.9801028,0.000003058165,0.00001542185,0.0009118222,0.0003545631,0.0009946821,0.00004727744,0.0005506136,0.0133517,0.0001596024],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9858929,0.00002460521,0.00001715828,0.01169727,0.0001587674,0.0006575658,0.0001737721,0.00004982926,0.001328141],"genre_scores_gemma":[0.9631799,0.00004295839,0.000009129945,0.03650132,0.00002537117,0.0001250844,0.00002250046,0.00004097946,0.00005275204],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02480405,"threshold_uncertainty_score":0.9999638,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.07482103277295621,"score_gpt":0.2798741632598798,"score_spread":0.2050531304869236,"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."}}