{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005119416,0.0002554265,0.0004558024,0.000478488,0.0003091756,0.00001878521,0.00006410628,0.0001028077,0.00002144703],"category_scores_gemma":[0.0001944742,0.0001853051,0.00002723314,0.0006238169,0.000257782,0.0001709002,0.00005004965,0.0001401943,0.000002016354],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005832043,"about_ca_system_score_gemma":0.0001710158,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001447696,"about_ca_topic_score_gemma":0.00007315102,"domain_scores_codex":[0.998265,0.00002272897,0.0004891285,0.0004355387,0.0003507061,0.0004368469],"domain_scores_gemma":[0.9991445,0.0001501622,0.000130487,0.0001629928,0.000211939,0.0001999506],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000109988,0.00007093853,0.9932147,0.0002219053,0.00005107436,0.00001797037,0.002521073,2.208665e-7,0.000463964,0.0003913801,0.0001738106,0.002763022],"study_design_scores_gemma":[0.003855272,0.0008906297,0.9918309,0.0001438386,0.0002169192,0.0000705757,0.001139948,0.0002908129,0.0004698949,0.0002321267,0.0006157348,0.0002433225],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9876348,0.002943725,0.007083435,0.0009665244,0.00009061724,0.0007833927,0.00001562192,0.00006905521,0.0004127675],"genre_scores_gemma":[0.9693342,0.0001043127,0.02940604,0.0004322332,0.0003316903,0.00007207933,0.0001668148,0.000031389,0.0001212028],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0223226,"threshold_uncertainty_score":0.7556521,"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."}}