{"id":"W4309321954","doi":"10.1186/s12886-022-02659-6","title":"Case report: novel PCDH15 variant causes usher syndrome type 1F with congenital hearing loss and syndromic retinitis pigmentosa","year":2022,"lang":"en","type":"article","venue":"BMC Ophthalmology","topic":"Hearing, Cochlea, Tinnitus, Genetics","field":"Neuroscience","cited_by":8,"is_retracted":false,"has_abstract":true,"ca_institutions":"Queen's University","funders":"National Eye Institute","keywords":"Usher syndrome; Retinitis pigmentosa; Medicine; Fundus (uterus); Electroretinography; Outer nuclear layer; Ophthalmology; Sensorineural hearing loss; Hearing loss; Retinal; Audiology","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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow","insufficient_payload"],"consensus_categories":[],"category_scores_codex":[0.0005012019,0.0003451362,0.000458837,0.0002029321,0.0005930632,0.00009646552,0.0003130169,0.0001345551,0.0009373702],"category_scores_gemma":[0.0007203665,0.0003640675,0.00005375706,0.0004748997,0.0004424884,0.0001260365,0.0008842151,0.0005617484,0.00005646767],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001381285,"about_ca_system_score_gemma":0.0003759798,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005858343,"about_ca_topic_score_gemma":0.00003236761,"domain_scores_codex":[0.9967554,0.0003706564,0.0005435736,0.001141052,0.0004258805,0.0007634017],"domain_scores_gemma":[0.9981766,0.0004404349,0.0002669118,0.0007923748,0.0000729282,0.0002507751],"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":[0.0002123996,0.000258622,0.06612884,0.00006045035,0.00004436771,0.9074113,0.0004113691,0.0004033866,0.0245795,0.0004280897,0.00004726133,0.00001438339],"study_design_scores_gemma":[0.0008717384,0.001199099,0.02884933,0.00001285195,0.00005980227,0.9662868,0.0002160642,0.0003172409,0.001276054,0.00008844177,0.0003949715,0.000427565],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9966778,0.00009504012,0.0001074957,0.00008929134,0.0007884373,0.0005358965,0.00007464838,0.0001033402,0.001528095],"genre_scores_gemma":[0.9954121,0.000005539914,0.001810994,0.0001444476,0.00005273142,0.00007751051,0.00001122017,0.0000948282,0.002390669],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.05887552,"threshold_uncertainty_score":0.9999759,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.09228007014779267,"score_gpt":0.2994021212502381,"score_spread":0.2071220511024454,"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."}}