{"id":"W4386856301","doi":"10.1212/nxg.0000000000200088","title":"Biallelic <i>SOX8</i> Variants Associated With Novel Syndrome With Myopathy, Skeletal Deformities, Intellectual Disability, and Ovarian Dysfunction","year":2023,"lang":"en","type":"article","venue":"Neurology Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"St Mary's Hospital Centre; Hospital for Sick Children; Ottawa Hospital; Children's Hospital of Eastern Ontario","funders":"Genome Alberta; Canada Research Chairs; Genome British Columbia; Muscular Dystrophy Canada; Canadian Institutes of Health Research; Genome Canada; Ontario Genomics; Ontario Genomics Institute; University of Ottawa","keywords":"Biology; Genetics; Short stature; Compound heterozygosity; Global developmental delay; Phenotype; Gene; Endocrinology","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":[],"consensus_categories":[],"category_scores_codex":[0.0001309403,0.0002518633,0.0002151303,0.00005735994,0.0001648074,0.00003293365,0.0001615218,0.0002407491,0.00001310108],"category_scores_gemma":[0.000104901,0.0002058384,0.00004731848,0.0002270757,0.0004206327,0.000004280311,0.0002008227,0.0001613837,0.000007877305],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000105987,"about_ca_system_score_gemma":0.0001162534,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001983705,"about_ca_topic_score_gemma":0.0002863159,"domain_scores_codex":[0.9986118,0.00005822591,0.0001989646,0.000569747,0.0001466943,0.0004145488],"domain_scores_gemma":[0.9992884,0.0000595459,0.00008403447,0.0003503193,0.00007869255,0.0001390195],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.005934593,0.00296133,0.6673756,0.0002910948,0.00252443,0.002028004,0.001322472,0.0104066,0.2915103,0.0005627128,0.005169769,0.009913086],"study_design_scores_gemma":[0.00456573,0.01123956,0.9683532,0.00002295561,0.0002778064,0.002849094,0.0001199355,0.001931855,0.002149413,0.0002832495,0.007304539,0.0009027121],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9983619,0.0001607689,0.0004531389,0.0002480151,0.000182065,0.0002582439,0.0001483248,0.00005223026,0.0001352647],"genre_scores_gemma":[0.9982374,0.0002445268,0.00008392595,0.0006116975,0.00009653026,0.00003002266,0.0004659257,0.00005501478,0.0001749496],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3009775,"threshold_uncertainty_score":0.8393847,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009931913126183113,"score_gpt":0.2008996498345544,"score_spread":0.1909677367083713,"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."}}