{"id":"W2104834795","doi":"10.1210/jc.2015-1080","title":"A Shared Genetic Basis for Self-Limited Delayed Puberty and Idiopathic Hypogonadotropic Hypogonadism","year":2015,"lang":"en","type":"article","venue":"The Journal of Clinical Endocrinology & Metabolism","topic":"Hypothalamic control of reproductive hormones","field":"Medicine","cited_by":113,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; University of Toronto","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Center for Research Resources; National Institute of Child Health and Human Development; National Heart, Lung, and Blood Institute; Boston Children's Hospital; National Institutes of Health; March of Dimes Foundation; Charles H. Hood Foundation; Deutsches Krebsforschungszentrum; Doris Duke Charitable Foundation","keywords":"Proband; Hypogonadotropic hypogonadism; Pedigree chart; Genetics; Family history; Exome sequencing; Internal medicine; Medicine; Endocrinology; Kallmann syndrome; Pathogenesis; Family aggregation; Biology; Gene; Mutation; Disease; 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":["metaresearch"],"consensus_categories":[],"category_scores_codex":[0.0032146,0.0003303316,0.00184681,0.0002487077,0.0001112867,0.00002402626,0.0004482342,0.0002344249,0.00001713789],"category_scores_gemma":[0.009143824,0.0002006543,0.0005166563,0.0001877966,0.000484662,0.0001749175,0.0001431868,0.001091271,0.00001881644],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005038775,"about_ca_system_score_gemma":0.0007143271,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003232972,"about_ca_topic_score_gemma":0.00001236392,"domain_scores_codex":[0.9954513,0.000982687,0.002064123,0.0004069096,0.0004895499,0.0006054738],"domain_scores_gemma":[0.9945924,0.001697206,0.0011121,0.0007080517,0.001282955,0.0006072793],"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":[0.06591912,0.005552973,0.1095413,0.0004301409,0.02059856,0.002374308,0.006007825,0.00016982,0.02978351,0.007425653,0.02709334,0.7251034],"study_design_scores_gemma":[0.02093976,0.002961285,0.8465908,0.0000680376,0.00563479,0.01076741,0.0003191893,0.000572268,0.0004239864,0.006569939,0.104827,0.0003255383],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9298987,0.04324693,0.001356038,0.02333752,0.00123644,0.0007227675,0.00001190389,0.00004996197,0.0001397509],"genre_scores_gemma":[0.9786645,0.0036293,0.01233482,0.002134952,0.002938644,0.00002523695,0.000001956714,0.00005301789,0.0002176232],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7370495,"threshold_uncertainty_score":0.9992025,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.07307328116453497,"score_gpt":0.3514928909730546,"score_spread":0.2784196098085196,"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."}}