{"id":"W1988673699","doi":"10.1002/ajmg.a.36552","title":"Clinical delineation and natural history of the <i>PIK3CA</i>‐related overgrowth spectrum","year":2014,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Vascular Malformations and Hemangiomas","field":"Medicine","cited_by":312,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Montreal Children's Hospital; McGill University Health Centre","funders":"National Human Genome Research Institute; Wellcome Trust; NIHR Cambridge Biomedical Research Centre; National Institutes of Health; Medical Research Council; National Institute for Health and Care Research","keywords":"Proteus syndrome; Macrocephaly; Lipomatosis; Megalencephaly; Hemihypertrophy; Pathology; Natural history; Medicine; Phenotype; Biology; Internal medicine; Genetics","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":[],"consensus_categories":[],"category_scores_codex":[0.001337051,0.00008101532,0.0003818611,0.00006694319,0.00002335462,0.000003353251,0.0001489772,0.00006951069,0.00008083853],"category_scores_gemma":[0.0005930342,0.00004949515,0.0002282521,0.0001360771,0.0005993369,0.00002542821,0.00005065827,0.0004183048,0.000002465357],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000482701,"about_ca_system_score_gemma":0.0003457086,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000009595935,"about_ca_topic_score_gemma":0.00000499948,"domain_scores_codex":[0.9980569,0.0001632013,0.0007865183,0.00008257743,0.0007887941,0.0001219737],"domain_scores_gemma":[0.9987716,0.0001241173,0.0005486445,0.0001869483,0.0001365477,0.000232156],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.00046097,0.0007309492,0.3081592,0.0001407122,0.001007183,0.00004532617,0.001887594,0.00005189383,0.0007042617,0.002424174,0.02661476,0.657773],"study_design_scores_gemma":[0.005497062,0.004145405,0.5664243,0.0006250552,0.0008458665,0.002203484,0.0003403423,0.02688762,0.0002503223,0.000398869,0.3921456,0.0002361509],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9883153,0.003328342,0.001810568,0.005346126,0.000784094,0.00007079325,4.963691e-7,0.000004668332,0.0003396428],"genre_scores_gemma":[0.9958959,0.00139041,0.001112467,0.001083098,0.0003254446,4.655341e-7,0.000001529911,0.000009484654,0.0001811593],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6575369,"threshold_uncertainty_score":0.2208282,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01074790720362592,"score_gpt":0.2783050449275783,"score_spread":0.2675571377239524,"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."}}