{"id":"W2171908125","doi":"10.1038/ejhg.2011.269","title":"Meier–Gorlin syndrome genotype–phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis","year":2012,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Hedgehog Signaling Pathway Studies","field":"Biochemistry, Genetics and Molecular Biology","cited_by":110,"is_retracted":false,"has_abstract":false,"ca_institutions":"Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine; Izaak Walton Killam Health Centre; Dalhousie University","funders":"Medical Research Council; Lister Institute of Preventive Medicine","keywords":"Biology; Genetics; Short stature; Compound heterozygosity; Hypoplasia; Phenotype; Gene; Endocrinology","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":[0.000466879,0.002442181,0.001212889,0.003231352,0.001596349,0.0005628781,0.0007515502,0.001151559,0.006265566],"category_scores_gemma":[0.00226438,0.0009157102,0.0008579702,0.001189735,0.001466919,0.0004900598,0.001156167,0.0005543483,0.0005516733],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004749138,"about_ca_system_score_gemma":0.0003526483,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.006615471,"about_ca_topic_score_gemma":0.003215133,"domain_scores_codex":[0.999184,0.0001127074,0.0001166118,0.0002556903,0.0001667635,0.0001643163],"domain_scores_gemma":[0.9991778,0.0003386882,0.0001142375,0.00007082913,0.00007486335,0.0002235231],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.005216769,0.001324912,0.6126337,0.0002434972,0.0006094138,0.2370005,0.01122456,0.0007796889,0.1109186,0.001054347,0.0005888578,0.01840512],"study_design_scores_gemma":[0.0002437445,0.003169623,0.8490883,0.00002915355,0.0005406527,0.1329791,0.001883757,0.0006762881,0.008798554,0.0004379508,0.00205852,0.00009435423],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9986961,0.0002157109,0.0002645873,0.00003642657,0.000008173222,0.0000250165,0.0001609664,0.00001070928,0.0005822726],"genre_scores_gemma":[0.998834,0.0001108414,0.0002711098,0.000031001,0.00001469047,0.00001926069,0.0001493157,0.00001409941,0.0005558067],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006615471,"threshold_uncertainty_score":0.02096045,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04859764909138968,"score_gpt":0.313819998240099,"score_spread":0.2652223491487093,"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."}}