{"id":"W2894074216","doi":"10.1016/j.ebiom.2018.09.026","title":"Screening a large pediatric cohort with GH deficiency for mutations in genes regulating pituitary development and GH secretion: Frequencies, phenotypes and growth outcomes","year":2018,"lang":"en","type":"article","venue":"EBioMedicine","topic":"Growth Hormone and Insulin-like Growth Factors","field":"Medicine","cited_by":58,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"National Heart, Lung, and Blood Institute; Women's Health Initiative","keywords":"Short stature; Sanger sequencing; Growth hormone deficiency; Mutation; Internal medicine; Genetic testing; Hypopituitarism; Biology; Genotyping; Medicine; Genetics; Endocrinology; Oncology; Genotype; Gene; Growth hormone; Hormone","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":[0.0003290783,0.000597026,0.0004436333,0.0007894277,0.0006962403,0.0004726325,0.0003140865,0.0003712777,0.00207443],"category_scores_gemma":[0.001185125,0.0003136449,0.0003540029,0.0009615642,0.0003752407,0.0003993627,0.0006689844,0.0004746083,0.0003810548],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003188161,"about_ca_system_score_gemma":0.0005222584,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00582527,"about_ca_topic_score_gemma":0.005514897,"domain_scores_codex":[0.999634,0.00006840876,0.00002306548,0.0001188173,0.00008990233,0.00006578719],"domain_scores_gemma":[0.9995778,0.00009455303,0.0001052773,0.00005695823,0.00006200667,0.0001034111],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001609703,0.00006145753,0.9941562,0.00000698849,0.0000362779,0.0007967034,0.0001055103,0.00004233153,0.001799441,0.00001858642,0.000336724,0.002478824],"study_design_scores_gemma":[0.00003271315,0.0002567747,0.9937366,0.00001120762,0.00004960451,0.004085942,0.000570031,0.0002012056,0.0004245471,0.00004066929,0.0005843447,0.000006216779],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9988247,0.0001307715,0.0002360897,0.00004517223,0.000003898454,0.00001421237,0.0004614636,0.000008328361,0.0002753958],"genre_scores_gemma":[0.998066,0.0002471639,0.0002936026,0.00005379839,0.00001224939,0.00002867273,0.001011627,0.000008075491,0.0002789048],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00582527,"threshold_uncertainty_score":0.01158273,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01755485318055182,"score_gpt":0.2555834139993593,"score_spread":0.2380285608188075,"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."}}