{"id":"W4414330486","doi":"10.3390/cells14181460","title":"ODAD4-Related Primary Ciliary Dyskinesia: Report of Five Cases and a Founder Variant in Quebec","year":2025,"lang":"en","type":"article","venue":"Cells","topic":"Cystic Fibrosis Research Advances","field":"Medicine","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University Health Centre; McGill University","funders":"National Center for Advancing Translational Sciences; Yale University; Rare Diseases Clinical Research Network; American Thoracic Society; McGill University Health Centre; National Institute of Diabetes and Digestive and Kidney Diseases; National Heart, Lung, and Blood Institute; McGill University","keywords":"Primary ciliary dyskinesia; Bronchiectasis; Cilium; Exon; Phenotype; Genotype; RNA splicing; Disease; Motile cilium","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002742378,0.0009624212,0.0004249294,0.001739049,0.00362171,0.0008117456,0.001254778,0.001198253,0.004073408],"category_scores_gemma":[0.001458862,0.0003914019,0.000445159,0.001397101,0.0009804972,0.0002534805,0.0008728182,0.0006386078,0.00039734],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00779217,"about_ca_system_score_gemma":0.004252573,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.9057275,"about_ca_topic_score_gemma":0.9070034,"domain_scores_codex":[0.9994205,0.00003835372,0.00004861078,0.0001574783,0.0001357995,0.0001991841],"domain_scores_gemma":[0.9990207,0.0001247815,0.0001496685,0.0000608423,0.0003225499,0.000321438],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"case_report","study_design_scores_codex":[0.0003160088,0.000300528,0.7328752,0.0001975546,0.0002221174,0.2105743,0.006235696,0.0004869978,0.01152693,0.0007067425,0.003146694,0.03341107],"study_design_scores_gemma":[0.0001027611,0.0004040555,0.8213139,0.0001817964,0.0002235181,0.1598913,0.00386567,0.002319099,0.001705833,0.0001984603,0.009673078,0.0001205521],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9922423,0.0007922765,0.0005931653,0.0002637463,0.00003973587,0.00009394306,0.0005387149,0.00004335901,0.005392672],"genre_scores_gemma":[0.9972053,0.00024931,0.0003628449,0.0001421127,0.0000125204,0.00001293145,0.0003149584,0.00001298498,0.001687015],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.09427249,"threshold_uncertainty_score":0.1896553,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008825832500528583,"score_gpt":0.2858340561288066,"score_spread":0.277008223628278,"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."}}