{"id":"W2016725540","doi":"10.1002/acn3.126","title":"Unusual Stüve‐Wiedemann syndrome with complete maternal chromosome 5 isodisomy","year":2014,"lang":"en","type":"article","venue":"Annals of Clinical and Translational Neurology","topic":"Genetic Syndromes and Imprinting","field":"Biochemistry, Genetics and Molecular Biology","cited_by":19,"is_retracted":false,"has_abstract":true,"ca_institutions":"London Health Sciences Centre; Western University","funders":"National Institutes of Health; National Heart, Lung, and Blood Institute; Helse Vest","keywords":"Medicine; Beckwith–Wiedemann syndrome; Chromosome; Genetics; Gene; Biology","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":[0.0001220466,0.001500153,0.0005672427,0.001664306,0.0005793325,0.0004197959,0.0006504835,0.001225212,0.003538271],"category_scores_gemma":[0.001257144,0.0004932849,0.0003546933,0.000891176,0.0007089403,0.0004215814,0.000975283,0.0005775,0.0005004926],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003770843,"about_ca_system_score_gemma":0.0003311353,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001017025,"about_ca_topic_score_gemma":0.001393465,"domain_scores_codex":[0.9997444,0.0000268842,0.0000251997,0.00009268387,0.00005283748,0.00005810422],"domain_scores_gemma":[0.9996216,0.0001153277,0.0000948555,0.00003304365,0.0000159591,0.0001191579],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.00009963317,0.00002135185,0.006814925,0.00003491644,0.00002495727,0.9759017,0.0002026671,0.0001228126,0.01122508,0.0007251347,0.0003025,0.00452428],"study_design_scores_gemma":[0.00001528801,0.00005498436,0.01244752,0.00000935398,0.00002397333,0.9839994,0.00004955689,0.0001518064,0.002143276,0.0002336821,0.0008607196,0.00001039201],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9906422,0.0008746175,0.001930045,0.0003569872,0.00006937158,0.00003860131,0.0003070653,0.0001766605,0.005604344],"genre_scores_gemma":[0.9961333,0.0005675462,0.001178619,0.0001267631,0.0000627764,0.00002439174,0.0001657223,0.00002904741,0.001711793],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003538271,"threshold_uncertainty_score":0.01183671,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05766965772263427,"score_gpt":0.3323834499655032,"score_spread":0.2747137922428689,"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."}}