{"id":"W1973017744","doi":"10.1002/ajmg.a.30191","title":"Paternal transmission of fragile X syndrome","year":2004,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":81,"is_retracted":false,"has_abstract":true,"ca_institutions":"Kingston General Hospital; Queen's University; McMaster University; Hamilton Health Sciences; Hamilton Regional Laboratory Medicine Program","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","keywords":"Allele; Fragile X syndrome; Genetics; Daughter; Mutation; Biology; Sperm; FMR1; Peripheral blood; Gene; Immunology","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":[0.0001469663,0.00051022,0.0002066653,0.0003002661,0.0004313798,0.0002325369,0.0002182964,0.0004702745,0.007068984],"category_scores_gemma":[0.001384794,0.0001976155,0.0001270032,0.0001306123,0.000279659,0.0002491826,0.0004036081,0.0003644205,0.0008585349],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001303536,"about_ca_system_score_gemma":0.0001541932,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006873872,"about_ca_topic_score_gemma":0.0006172798,"domain_scores_codex":[0.9998139,0.00004674949,0.00001097923,0.00005341444,0.00004625779,0.00002884056],"domain_scores_gemma":[0.9996277,0.0001325585,0.00007824482,0.00005524143,0.00003241523,0.00007379906],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.000769647,0.00015512,0.2320236,0.0002625851,0.0001858803,0.4906891,0.002431341,0.0006970164,0.1098491,0.02156231,0.007430617,0.1339436],"study_design_scores_gemma":[0.00003938326,0.0005527211,0.06723212,0.00004973736,0.00009044006,0.8965466,0.0002163905,0.0007508685,0.016233,0.002434199,0.01582546,0.00002915049],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9588819,0.002326763,0.01381432,0.001384103,0.0002407072,0.0000273183,0.0006508966,0.0003821051,0.02229194],"genre_scores_gemma":[0.9935262,0.0006124455,0.001591856,0.0001940827,0.00008475553,0.000006132543,0.00009586555,0.00002631904,0.003862304],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007068984,"threshold_uncertainty_score":0.02364814,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006981713890274487,"score_gpt":0.2479438643976529,"score_spread":0.2409621505073784,"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."}}