{"id":"W3181657693","doi":"10.1080/13816810.2021.1946704","title":"Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome","year":2021,"lang":"en","type":"article","venue":"Ophthalmic Genetics","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":34,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"Alcon Research Institute; National Eye Institute; National Institute on Aging; National Institute for Health Research Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology; Prevent Blindness; Coordenação de Aperfeiçoamento de Pessoal de Nível Superior; National Cancer Institute; National Institutes of Health; Foundation Fighting Blindness","keywords":"Sensorineural hearing loss; Medicine; Stargardt disease; Pathology; Usher syndrome; Retinal pigment epithelium; Retinal; Disease; Ophthalmology; Hearing loss; Retinitis pigmentosa; Audiology","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0001975448,0.00049507,0.0003717955,0.0006976132,0.0003224789,0.0003455846,0.0001968747,0.0003267873,0.001876356],"category_scores_gemma":[0.001759768,0.000127453,0.0001746715,0.000518931,0.000366221,0.000298144,0.0004434701,0.000269491,0.0002364426],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001225518,"about_ca_system_score_gemma":0.0001819662,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006824984,"about_ca_topic_score_gemma":0.0008260196,"domain_scores_codex":[0.9996774,0.00006371459,0.00005014913,0.00008308126,0.00006930335,0.00005629226],"domain_scores_gemma":[0.9993696,0.0002163663,0.0001901532,0.00003330807,0.0000794245,0.0001111758],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003576516,0.00006684307,0.7929021,0.00009058818,0.00005812252,0.1500935,0.001055892,0.0004319705,0.02113486,0.0004516839,0.00148547,0.03187122],"study_design_scores_gemma":[0.00002667369,0.0002357678,0.464797,0.00006783465,0.00006033983,0.5269423,0.0008456135,0.0007901865,0.00308121,0.0005099495,0.002615096,0.00002793156],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9970015,0.0005502465,0.0005003489,0.0001093918,0.00001351432,0.00001234186,0.0001317923,0.00004027496,0.001640499],"genre_scores_gemma":[0.9990287,0.0002343522,0.0003424312,0.00005765261,0.00002057676,0.000004521501,0.0001350613,0.000007973655,0.0001687406],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001876356,"threshold_uncertainty_score":0.006277025,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01684298570510474,"score_gpt":0.2697258051866285,"score_spread":0.2528828194815238,"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."}}