{"id":"W4324128884","doi":"10.1210/clinem/dgad147","title":"Expanding the Phenotypic Spectrum of Kenny–Caffey Syndrome","year":2023,"lang":"en","type":"review","venue":"The Journal of Clinical Endocrinology & Metabolism","topic":"Congenital heart defects research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":15,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University Health Centre","funders":"HORIZON EUROPE European Research Council; National Institute of Diabetes and Digestive and Kidney Diseases; HORIZON EUROPE Framework Programme; Radboud Universitair Medisch Centrum; European Research Council; Nierstichting","keywords":"Spectrum (functional analysis); Phenotype; Genetics; Biology; Physics; Gene; Quantum mechanics","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":[0.005648381,0.0005149205,0.001751376,0.01403705,0.0003545761,0.001160178,0.0007108699,0.0009938319,0.0014269],"category_scores_gemma":[0.0183206,0.0003361904,0.001820943,0.007252931,0.001128279,0.002117415,0.00134294,0.0005898181,0.0001735387],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007564866,"about_ca_system_score_gemma":0.002990502,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002197765,"about_ca_topic_score_gemma":0.005233532,"domain_scores_codex":[0.9944757,0.001573679,0.002244209,0.0005135208,0.001076814,0.0001161421],"domain_scores_gemma":[0.9709564,0.02142699,0.004698947,0.0005455791,0.002094794,0.0002771944],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"systematic_review","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0004603997,0.00005002006,0.03086347,0.4907084,0.004308885,0.009446612,0.002488498,0.0004857728,0.006305085,0.003193597,0.01052896,0.4411604],"study_design_scores_gemma":[0.0004706366,0.0007351228,0.1397776,0.5217475,0.01752707,0.05369059,0.004722644,0.0004771175,0.002511299,0.007859915,0.2502939,0.0001864706],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.02762605,0.9641607,0.0005956247,0.003240929,0.0002367221,0.0001483237,0.001168057,0.00002567969,0.002797983],"genre_scores_gemma":[0.1728373,0.8177843,0.00322865,0.003928832,0.0005568393,0.0002312639,0.001220272,0.00001683764,0.000195726],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.01403705,"threshold_uncertainty_score":0.02987182,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1331399638888357,"score_gpt":0.4616836641446722,"score_spread":0.3285437002558366,"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."}}