{"id":"W1792797861","doi":"10.1111/cge.12688","title":"Clinical reappraisal of <scp>SHORT</scp> syndrome with <i><scp>PIK3R1</scp></i> mutations: toward recommendation for molecular testing and management","year":2015,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Vascular Malformations and Hemangiomas","field":"Medicine","cited_by":93,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Children's Hospital; Children's Hospital of Eastern Ontario; University of Calgary; SickKids Foundation; Hospital for Sick Children; University of Ottawa","funders":"Institute of Genetics; Canadian Institutes of Health Research; Universitetet i Bergen; Genome Canada; Children's Hospital of Eastern Ontario Foundation; Ontario Genomics; Conseil régional de Bourgogne-Franche-Comté; Norges Forskningsråd; Helse Vest; Ontario Genomics Institute","keywords":"Short stature; Medicine; Etiology; Acanthosis nigricans; Internal medicine; Pediatrics; Diabetes mellitus; Insulin resistance; 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":[0.001873576,0.0002062078,0.0006008497,0.0001225398,0.00006603169,0.00003315611,0.0001283246,0.0002245202,0.000001824555],"category_scores_gemma":[0.00394463,0.0001787486,0.0002106147,0.0003185052,0.0002400671,0.00007600607,0.0001232708,0.0002332751,0.00001153052],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001589352,"about_ca_system_score_gemma":0.0001390953,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000003036325,"about_ca_topic_score_gemma":0.000002592059,"domain_scores_codex":[0.9974715,0.0001284105,0.001349018,0.0004278422,0.0003217784,0.0003015171],"domain_scores_gemma":[0.9964562,0.001855177,0.000324582,0.000434555,0.0005377894,0.0003916722],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000139169,0.003302185,0.7039652,0.002516092,0.002772205,0.0003776748,0.001155978,0.0007267191,0.0001927592,0.003283838,0.02105261,0.2605155],"study_design_scores_gemma":[0.02133663,0.0169524,0.6504024,0.001162087,0.005463369,0.001325524,0.005383172,0.03451452,0.00119775,0.003294031,0.2585975,0.0003706414],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9484097,0.0006042877,0.04393898,0.0003434436,0.0002613192,0.001377209,0.00002785634,0.00006999814,0.004967192],"genre_scores_gemma":[0.7172017,0.0005667755,0.280898,0.0005581641,0.0001688091,0.0001051539,0.0002299968,0.00005621535,0.0002151231],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2601449,"threshold_uncertainty_score":0.7289155,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1467373544677098,"score_gpt":0.4013383642976975,"score_spread":0.2546010098299877,"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."}}