{"id":"W2136377816","doi":"10.1111/j.1399-0004.2010.01468.x","title":"Comparative analysis of Shwachman-Diamond syndrome to other inherited bone marrow failure syndromes and genotype-phenotype correlation","year":2010,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Blood disorders and treatments","field":"Biochemistry, Genetics and Molecular Biology","cited_by":64,"is_retracted":false,"has_abstract":true,"ca_institutions":"Janeway Children's Health and Rehabilitation Centre; McMaster Children's Hospital; McMaster University; Alberta Health; University of Alberta; Centre Hospitalier Universitaire de Sherbrooke; Queen's University; British Columbia Children's Hospital; Centre Hospitalier Universitaire Sainte-Justine; Health Sciences Centre; CancerCare Manitoba; Population Health Research Institute; Children's Hospital of Western Ontario; Children's Hospital of Eastern Ontario; Princess Margaret Cancer Centre; Alberta Children's Hospital; Izaak Walton Killam Health Centre; University of Saskatchewan; Hospital for Sick Children; Montreal Children's Hospital; University of Toronto; SickKids Foundation","funders":"Amgen Canada; China International Medical Foundation; Amgen","keywords":"Bone marrow failure; Diamond–Blackfan anemia; Dyskeratosis congenita; Medicine; Neutropenia; Anemia; Exocrine pancreatic insufficiency; Bone marrow; Phenotype; Aplastic anemia; Congenital Neutropenia; Fanconi anemia; Disease; Immunology; Internal medicine; Genetics; Cystic fibrosis; Biology; Gene","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001624962,0.0001678125,0.0004549412,0.000094025,0.00004640575,0.00001717297,0.0001210701,0.0002894842,0.00007376748],"category_scores_gemma":[0.00007244326,0.0001547893,0.0001499818,0.0003186246,0.0001691343,0.000002798803,0.0001044233,0.0001410916,0.00001639541],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000002568436,"about_ca_system_score_gemma":0.00003417783,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000223552,"about_ca_topic_score_gemma":0.0008033048,"domain_scores_codex":[0.9988103,0.00006888882,0.0004339803,0.0004002958,0.0001157674,0.0001707597],"domain_scores_gemma":[0.9991176,0.00005011399,0.0001493527,0.0004094524,0.0001130396,0.0001604913],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002164083,0.0008335361,0.9201044,0.00002294897,0.003397246,0.00001270271,0.0002694171,0.0006796345,0.06763039,0.0001371518,0.001118285,0.005577896],"study_design_scores_gemma":[0.001366904,0.001380139,0.9783965,0.000009785013,0.00152605,0.00001353165,0.0001042682,0.001301345,0.004433591,0.0001542066,0.01094787,0.0003657434],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9976341,0.001044823,0.0005090222,0.00009080141,0.0001456753,0.0002334427,0.00007918766,0.000007932869,0.0002549898],"genre_scores_gemma":[0.9940877,0.00008671779,0.005107612,0.0002114466,0.0000386435,0.0000102562,0.0001607505,0.00001641399,0.0002804726],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0631968,"threshold_uncertainty_score":0.6312125,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02562976224553129,"score_gpt":0.3263623259960356,"score_spread":0.3007325637505043,"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."}}