{"id":"W2016265415","doi":"10.1111/j.1399-0004.2009.01239.x","title":"Combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies and developmental delay: a new syndrome","year":2009,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Immunodeficiency and Autoimmune Disorders","field":"Immunology and Microbiology","cited_by":9,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; SickKids Foundation; Hospital for Sick Children","funders":"","keywords":"Facial dysmorphism; Atrophy; Etiology; Medicine; Immunodeficiency; Pediatrics; Pathology; Biology; Genetics; Immunology; Immune system","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":[0.0001612671,0.001251534,0.0005066379,0.001437449,0.0005869883,0.0004425681,0.0003746513,0.0007671209,0.002692079],"category_scores_gemma":[0.001023946,0.0002295041,0.0002608688,0.0006483451,0.0009853936,0.0003456665,0.0008286238,0.0005643858,0.0003536176],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003025329,"about_ca_system_score_gemma":0.000452681,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001465812,"about_ca_topic_score_gemma":0.002239757,"domain_scores_codex":[0.9997545,0.00002758488,0.00003105358,0.00005825789,0.00007867033,0.0000499188],"domain_scores_gemma":[0.999571,0.0001460484,0.00008204888,0.00002619295,0.00003202715,0.0001425833],"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":[0.0003664607,0.0001631603,0.08571792,0.0002158962,0.0001597828,0.8282468,0.0006906427,0.0001755155,0.04904578,0.001962825,0.002128043,0.03112714],"study_design_scores_gemma":[0.00003709375,0.0001411178,0.02764917,0.00002086816,0.00006048343,0.9659256,0.0001195141,0.00009037309,0.001792995,0.0001752545,0.003975601,0.0000118096],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9824857,0.005740203,0.001670553,0.0004779086,0.0001280353,0.00004885542,0.0003363869,0.0001227462,0.008989681],"genre_scores_gemma":[0.9934749,0.001893499,0.001714278,0.0002107848,0.000172833,0.00002926875,0.0002103916,0.000011372,0.002282785],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002692079,"threshold_uncertainty_score":0.009005904,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02124916738407492,"score_gpt":0.273227635768857,"score_spread":0.2519784683847821,"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."}}