{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003588066,0.0001391634,0.000333047,0.00003311366,0.00005066558,0.000009146301,0.0001308834,0.0001572016,0.00002682508],"category_scores_gemma":[0.0000458545,0.0001132755,0.0001109614,0.00004324922,0.0003354911,0.000004972263,0.00004413091,0.0001296426,0.000006367834],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":3.876445e-8,"about_ca_system_score_gemma":0.00002781231,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000009017017,"about_ca_topic_score_gemma":0.000009258631,"domain_scores_codex":[0.998605,0.0001500187,0.0005201324,0.000366658,0.000140271,0.0002179784],"domain_scores_gemma":[0.9993636,0.0001168424,0.0001478388,0.0001721247,0.0000870615,0.0001125502],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004089023,0.000171378,0.9793279,0.00005995396,0.0001980288,0.00001254564,0.00001312506,0.0002485203,0.003365209,0.00261085,0.0001223413,0.01346127],"study_design_scores_gemma":[0.001073426,0.002142847,0.9761218,0.000009527722,0.00001756089,0.0002895898,0.00000134046,0.0004011274,0.0007273458,0.001495353,0.0175876,0.0001325292],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9943393,0.0001676254,0.001276266,0.003218159,0.00009859813,0.00009217826,0.00002520723,0.000006498397,0.0007761198],"genre_scores_gemma":[0.996588,0.0001343442,0.0005232178,0.002491845,0.0001497021,0.00000457809,0.00004022644,0.00001493447,0.00005316477],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01746526,"threshold_uncertainty_score":0.461924,"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."}}