{"id":"W3109560213","doi":"10.1038/s41436-020-01027-3","title":"An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids","year":2020,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Hereditary Neurological Disorders","field":"Neuroscience","cited_by":49,"is_retracted":false,"has_abstract":true,"ca_institutions":"Mount Sinai Hospital; McMaster University; McMaster Children's Hospital","funders":"Common Fund; National Institutes of Health; National Institute of Neurological Disorders and Stroke; National Human Genome Research Institute; Amsterdam University Medical Centers","keywords":"Plasmalogen; Hypotonia; Spastic; Retinitis pigmentosa; Medicine; Biology; Internal medicine; Endocrinology; Gene; Biochemistry; Cerebral palsy; Phospholipid","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":["metaresearch"],"consensus_categories":[],"category_scores_codex":[0.000838805,0.0002527037,0.0006790765,0.0001695895,0.00003036357,0.000007621712,0.0006029318,0.0002312404,0.0001383195],"category_scores_gemma":[0.01257398,0.0001969473,0.00003857255,0.000867437,0.0003588514,0.00005169353,0.0001102194,0.0006279572,0.000004163345],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002439681,"about_ca_system_score_gemma":0.00005896594,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001589453,"about_ca_topic_score_gemma":0.0003585843,"domain_scores_codex":[0.9960628,0.001284879,0.0008637441,0.0007588958,0.0004198285,0.0006098574],"domain_scores_gemma":[0.9975637,0.001755551,0.0001426431,0.0003258884,0.00001878868,0.000193445],"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":[0.0009546254,0.0005218505,0.1629312,0.00003628475,0.000002906095,0.000640861,0.001455413,0.008335908,0.8197815,0.00005752316,0.00007533817,0.005206607],"study_design_scores_gemma":[0.01888054,0.00515238,0.5686261,0.0001496665,0.0000385435,0.00002092662,0.0005788674,0.3766957,0.02685675,0.00153861,0.0008216418,0.0006402289],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9879658,0.0001637495,0.0003604039,0.01047906,0.0001353841,0.0004755871,0.00001846385,0.00003140227,0.0003701271],"genre_scores_gemma":[0.9934654,0.0002000187,0.0003391476,0.005827764,0.00008750231,0.00004475569,0.00000203943,0.00002895806,0.00000447201],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7929248,"threshold_uncertainty_score":0.9957435,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0354410844500562,"score_gpt":0.2927605884593716,"score_spread":0.2573195040093155,"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."}}