{"id":"W2912327695","doi":"10.1002/jimd.12055","title":"Clinical, neuroradiological, and biochemical features of SLC35A2‐CDG patients","year":2019,"lang":"en","type":"article","venue":"Journal of Inherited Metabolic Disease","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":52,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia; BC Children's Hospital","funders":"National Institute of Diabetes and Digestive and Kidney Diseases; Horizon 2020 Framework Programme; Eesti Teadusagentuur; National Institutes of Health; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; H2020 European Institute of Innovation and Technology; ZonMw; European Commission","keywords":"Corpus callosum; Hypotonia; Epilepsy; Abnormality; Medicine; Hypsarrhythmia; Hyperintensity; Pathology; Encephalopathy; White matter; Pediatrics; Internal medicine; Magnetic resonance imaging; Radiology","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0001680624,0.0001418625,0.0003127528,0.00005957969,0.00001964267,0.0000140507,0.0001927268,0.00009004959,0.00001839227],"category_scores_gemma":[0.0002952953,0.0001102786,0.0001852744,0.00009498865,0.000123234,0.000005320677,0.0001134252,0.000135973,0.000002773294],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000001800411,"about_ca_system_score_gemma":0.00008253939,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":6.766791e-7,"about_ca_topic_score_gemma":1.519632e-7,"domain_scores_codex":[0.9988368,0.0001012082,0.0005178321,0.0002130214,0.0001823395,0.0001488631],"domain_scores_gemma":[0.9990064,0.00001823055,0.0003293323,0.000193182,0.0001883302,0.000264527],"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":[0.001063767,0.0008112664,0.3739965,0.00006039169,0.0001544172,0.000008627521,0.00001937553,0.00001566392,0.6096505,0.00004011757,0.007186084,0.006993361],"study_design_scores_gemma":[0.00140872,0.0004792614,0.9721266,0.00002012682,0.00005950878,0.000006917241,0.0000189004,0.000003131606,0.005082406,0.00005497799,0.0206146,0.000124843],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9926887,0.006659636,0.000007529029,0.00007747025,0.0002777546,0.0001302076,0.00002586091,0.000002078284,0.0001307454],"genre_scores_gemma":[0.993998,0.004642936,0.0005337295,0.0006594587,0.00005194772,0.000001390069,0.00002790897,0.00001545412,0.00006920921],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6045681,"threshold_uncertainty_score":0.4497032,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00927065505350211,"score_gpt":0.2616581801641769,"score_spread":0.2523875251106747,"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."}}