{"id":"W2766045891","doi":"10.1016/j.ajhg.2017.09.019","title":"Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with “Corner Fractures”","year":2017,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Bone health and treatments","field":"Medicine","cited_by":60,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Calgary; Université de Montréal; Alberta Children's Hospital; Centre Hospitalier Universitaire Sainte-Justine; McGill University","funders":"National Center for Research Resources; National Institute of Allergy and Infectious Diseases; National Cancer Institute; National Human Genome Research Institute; Canadian Institutes of Health Research; National Institutes of Health; Fondazione Bambino Gesù; Fonds de Recherche du Québec - Santé; Heart and Stroke Foundation of Canada; Ministero della Salute; Deutsche Forschungsgemeinschaft; Eunice Kennedy Shriver National Institute of Child Health and Human Development; European Commission; Conselho Nacional de Desenvolvimento Científico e Tecnológico; Réseau de Recherche en Santé Buccodentaire et Osseuse","keywords":"Genetics; Fibronectin; Medicine; Biology; Extracellular matrix","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0002722325,0.001357143,0.000551211,0.001216864,0.001002652,0.0004963166,0.0008930639,0.001802768,0.003299134],"category_scores_gemma":[0.002127529,0.0003557478,0.0006623164,0.00106851,0.001074739,0.0002588118,0.0007237642,0.0005706855,0.0005787627],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005951279,"about_ca_system_score_gemma":0.0006817403,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00709359,"about_ca_topic_score_gemma":0.01291505,"domain_scores_codex":[0.9994226,0.00004499442,0.00005240743,0.0001312312,0.0002048152,0.0001440129],"domain_scores_gemma":[0.999263,0.0002237262,0.0001992215,0.00004637419,0.00009906245,0.0001686633],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0006177254,0.0001003058,0.08037129,0.00008025573,0.0001084791,0.8538015,0.0003730895,0.0007112753,0.05018905,0.001429702,0.002860527,0.009356767],"study_design_scores_gemma":[0.00008036116,0.0001878467,0.07747788,0.0000282512,0.0000737733,0.9109389,0.0003318276,0.001346963,0.006894745,0.0006788532,0.001931385,0.00002933279],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9911296,0.0003023387,0.001599735,0.0005460614,0.0001153513,0.00005418638,0.0005203833,0.00007398395,0.005658404],"genre_scores_gemma":[0.9969151,0.00006447022,0.001667312,0.0001585336,0.00005452727,0.000006190312,0.000179508,0.00002441517,0.0009299902],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00709359,"threshold_uncertainty_score":0.0141046,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02732004614587078,"score_gpt":0.3497817815022949,"score_spread":0.3224617353564241,"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."}}