{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003169517,0.0003789157,0.0003525172,0.0009643298,0.0004212698,0.0003796789,0.0003691586,0.000437802,0.002683179],"category_scores_gemma":[0.001709396,0.0002562763,0.0002333762,0.0008555338,0.0006002866,0.0002833237,0.0006036705,0.000414924,0.0001483805],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002044122,"about_ca_system_score_gemma":0.0002791242,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001188146,"about_ca_topic_score_gemma":0.0009967734,"domain_scores_codex":[0.9996563,0.00007771829,0.00003317147,0.0001028342,0.00007564419,0.00005427427],"domain_scores_gemma":[0.9991518,0.0001791277,0.0004277457,0.00007057276,0.00004396689,0.0001267837],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002854419,0.0000691246,0.986178,0.00002448296,0.00007360992,0.006329078,0.0002158985,0.00005646829,0.003757046,0.0002111204,0.0001021425,0.002697625],"study_design_scores_gemma":[0.00003171654,0.0001759536,0.9716088,0.00001880272,0.00006191181,0.02678171,0.0002713621,0.0002431204,0.0003859387,0.000203086,0.0002109567,0.000006733459],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.99926,0.0002276936,0.0001289879,0.00003296538,0.000003864247,0.000006514172,0.00007685653,0.000003972528,0.00025921],"genre_scores_gemma":[0.9995621,0.0001154448,0.0001346834,0.00001204536,0.00001152243,0.00000350857,0.00008959741,0.000001682079,0.00006940933],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002683179,"threshold_uncertainty_score":0.008976161,"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."}}