{"id":"W3216901856","doi":"10.1136/jmedgenet-2020-107623","title":"Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in <i>CHST14</i> (mcEDS-<i>CHST14</i>)","year":2021,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":42,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children","funders":"Japan Society for the Promotion of Science; Meijo University; Lastentautien Tutkimussäätiö; Ministry of Health, Labour and Welfare; Japan Foundation for Pediatric Research; National Human Genome Research Institute; Japan Medical Association; Fonds Wetenschappelijk Onderzoek; Vlaamse regering; Japan Agency for Medical Research and Development","keywords":"Joint hypermobility; Medicine; Ehlers–Danlos syndrome; Muscle contracture; Hypertelorism; Dermatology; Short stature; Palpebral fissure; Pediatrics; Surgery; Anatomy","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":[0.0008831822,0.0002111844,0.0005318605,0.00008338947,0.00002996272,0.00002154289,0.0003707824,0.0003985247,0.00006456609],"category_scores_gemma":[0.001115925,0.000170551,0.0001603809,0.0002114301,0.0003751131,0.000007741221,0.0002157246,0.0006186546,7.551155e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000168688,"about_ca_system_score_gemma":0.0005682001,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001062175,"about_ca_topic_score_gemma":0.00007365553,"domain_scores_codex":[0.9968702,0.0004434505,0.0007936489,0.0003514532,0.001191752,0.0003494501],"domain_scores_gemma":[0.9983277,0.0001087328,0.000308955,0.0003076803,0.0005421155,0.000404758],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001096255,0.002837694,0.6093383,0.0002781294,0.001324367,0.003520478,0.0002521109,0.00008935149,0.3082525,0.00004032029,0.004052375,0.0689182],"study_design_scores_gemma":[0.01351287,0.00284102,0.943554,0.0003230575,0.0001646505,0.0006588476,0.000259872,0.00006567226,0.03475926,0.0001318051,0.003261658,0.0004673089],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9864458,0.0118132,0.0005693926,0.0007598586,0.0001361401,0.0001957329,0.00003580049,0.000001800715,0.00004231481],"genre_scores_gemma":[0.995943,0.002891677,0.0005615358,0.0004205965,0.0000704647,0.000003645942,0.00004210087,0.00003096318,0.00003603342],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3342157,"threshold_uncertainty_score":0.6954866,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007993699187472527,"score_gpt":0.2962406928881192,"score_spread":0.2882469937006467,"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."}}