{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001287027,0.001142597,0.0009107925,0.0020362,0.0008543452,0.001509107,0.001424581,0.002223061,0.001273551],"category_scores_gemma":[0.005146609,0.0003264821,0.0005780829,0.0008543533,0.002056053,0.001578676,0.001253503,0.002725562,0.001018901],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007458566,"about_ca_system_score_gemma":0.00127167,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003210912,"about_ca_topic_score_gemma":0.002696126,"domain_scores_codex":[0.9990309,0.0002152946,0.0002337467,0.0001116534,0.0002726354,0.000135738],"domain_scores_gemma":[0.9973495,0.0006422263,0.000355334,0.0001444207,0.001038505,0.0004699085],"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":[0.000538539,0.0001424596,0.3461339,0.0008011315,0.0001280707,0.4435733,0.001810921,0.001423684,0.02376897,0.00522347,0.04392888,0.1325267],"study_design_scores_gemma":[0.00009467378,0.0005285488,0.1245361,0.001019674,0.000178,0.8191475,0.002890745,0.003800002,0.003104902,0.00617449,0.03838968,0.0001357133],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.6899394,0.0684765,0.04292544,0.1112773,0.004499585,0.0007660288,0.0009943249,0.001677351,0.07944408],"genre_scores_gemma":[0.9441664,0.0227198,0.01120137,0.01034231,0.006991393,0.0001225455,0.00059292,0.0001008844,0.003762399],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003210912,"threshold_uncertainty_score":0.006806552,"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."}}