{"id":"W2987073698","doi":"10.1002/ajmg.a.61403","title":"Growth hormone deficiency in megalencephaly‐capillary malformation syndrome: An association with activating mutations in PIK3CA","year":2019,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Vascular Malformations and Hemangiomas","field":"Medicine","cited_by":21,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia; Western University; B.C. Women's Hospital & Health Centre; London Health Sciences Centre","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of Child Health and Human Development; National Institute of Neurological Disorders and Stroke","keywords":"Polymicrogyria; Megalencephaly; Internal medicine; Endocrinology; Medicine; Growth hormone deficiency; Hypoglycemia; Growth hormone; Insulin; Hormone; Epilepsy; Pathology; Psychiatry","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002495642,0.0006403744,0.0003494253,0.001030008,0.0006652054,0.0003883975,0.0003404688,0.0004983337,0.002217631],"category_scores_gemma":[0.001272798,0.0002362396,0.000329467,0.0007887344,0.0005439698,0.0002475952,0.0004334676,0.0004518173,0.0002055946],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002990604,"about_ca_system_score_gemma":0.00035608,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004309261,"about_ca_topic_score_gemma":0.003318843,"domain_scores_codex":[0.9996704,0.00006867187,0.00003466404,0.00009675368,0.00006968887,0.00005976497],"domain_scores_gemma":[0.9994364,0.0001518418,0.0001899353,0.00002524225,0.00006242721,0.0001341284],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003933514,0.0001060126,0.9196787,0.00003089464,0.00006619358,0.06369763,0.0004157457,0.00008447336,0.00994534,0.0001579824,0.0004434113,0.004980299],"study_design_scores_gemma":[0.00003544845,0.0002305788,0.8432529,0.00001955385,0.0000713629,0.1532286,0.0003177382,0.0005837844,0.001682696,0.0001065215,0.0004564715,0.00001431988],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9992682,0.00009268851,0.000159906,0.00004285536,0.000005114088,0.00001033394,0.00005209758,0.000007393448,0.0003612531],"genre_scores_gemma":[0.999559,0.00006421479,0.0001725659,0.00002123877,0.00001163349,0.000005071799,0.00004462338,0.00000291828,0.0001187198],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004309261,"threshold_uncertainty_score":0.008568347,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007487063890810526,"score_gpt":0.2567586507226361,"score_spread":0.2492715868318256,"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."}}