{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001126483,0.001027105,0.0002975988,0.0007159567,0.0006881547,0.0003444836,0.0003273832,0.0009876488,0.004339622],"category_scores_gemma":[0.000375978,0.000251389,0.0004391422,0.000668897,0.0007088235,0.00017969,0.0004924167,0.0005514935,0.0003621096],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002453105,"about_ca_system_score_gemma":0.0002562636,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001856982,"about_ca_topic_score_gemma":0.003378805,"domain_scores_codex":[0.999785,0.00001365884,0.00002667709,0.0001029033,0.00004150358,0.00003026903],"domain_scores_gemma":[0.9996917,0.00007708636,0.0001137651,0.00001716077,0.00001501029,0.00008528094],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.001059165,0.0001461032,0.1661164,0.0002231098,0.0002284174,0.4964575,0.001128325,0.0004524611,0.3198016,0.001224654,0.001209511,0.01195268],"study_design_scores_gemma":[0.000133336,0.0002974153,0.2733461,0.00007616609,0.0002052928,0.6940799,0.0004679858,0.001095435,0.02451666,0.0007018014,0.005035532,0.00004444068],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.996399,0.0003147719,0.001033722,0.0001982733,0.00002764805,0.00003058689,0.000745414,0.0000609299,0.0011896],"genre_scores_gemma":[0.9975806,0.0001407979,0.001124577,0.0001140338,0.00003783075,0.00001337751,0.000293118,0.0000247693,0.000670869],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004339622,"threshold_uncertainty_score":0.01451755,"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."}}