{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001208685,0.0009835355,0.0003475149,0.0006174616,0.0006125798,0.0003146188,0.0002671938,0.0004107015,0.004058891],"category_scores_gemma":[0.0003630297,0.0001662511,0.000213452,0.0007123428,0.0003425353,0.0001448172,0.0005298639,0.0003342203,0.000802092],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002399807,"about_ca_system_score_gemma":0.0002152398,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001905985,"about_ca_topic_score_gemma":0.002762924,"domain_scores_codex":[0.9997631,0.00001529442,0.00002871704,0.0001140629,0.00005028677,0.00002854916],"domain_scores_gemma":[0.9997804,0.00003407418,0.0001035332,0.00001056697,0.0000218504,0.00004962485],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001529859,0.000256955,0.4809816,0.0002144353,0.0004328392,0.0848233,0.001083501,0.0003256298,0.398881,0.0004385441,0.002352996,0.02867924],"study_design_scores_gemma":[0.00008583785,0.00047225,0.8153998,0.00004728261,0.0002558913,0.1462317,0.0003872795,0.0005549542,0.03039373,0.0002610976,0.00588208,0.00002811498],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.996362,0.0003860957,0.0008264901,0.00008568673,0.000008686995,0.0000356264,0.0009719394,0.00003931249,0.001284178],"genre_scores_gemma":[0.9971532,0.000187903,0.000643136,0.00007189391,0.00001857862,0.00001741259,0.0006775649,0.00001691977,0.001213601],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004058891,"threshold_uncertainty_score":0.01357836,"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."}}