{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002520315,0.001389384,0.001057427,0.00170399,0.001609696,0.0009843558,0.0008069405,0.00354955,0.002668769],"category_scores_gemma":[0.001504494,0.0006045474,0.000926508,0.0008754206,0.00118726,0.0009280434,0.00119717,0.001528621,0.0006320288],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001009679,"about_ca_system_score_gemma":0.0005243756,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002476328,"about_ca_topic_score_gemma":0.002129981,"domain_scores_codex":[0.9994662,0.00003475255,0.00004488222,0.0002138195,0.00007981398,0.0001604519],"domain_scores_gemma":[0.9992594,0.0001672182,0.0001708166,0.00007372251,0.00006577057,0.0002630158],"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":[0.00002568605,0.00001862073,0.008406885,0.0000185359,0.000009633609,0.9888988,0.0001665498,0.00005526298,0.0008665244,0.0001582992,0.0003161619,0.001058979],"study_design_scores_gemma":[0.000005904878,0.00001897485,0.002480001,0.000004933922,0.000004931156,0.9967316,0.00003807176,0.00009141316,0.0002469914,0.00007331837,0.0002988687,0.000004945822],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9877308,0.002807837,0.002365869,0.001542905,0.0001773629,0.0001291666,0.0004461037,0.0001752329,0.004624782],"genre_scores_gemma":[0.9962009,0.0005287112,0.001235864,0.0004193537,0.0002410876,0.00002879644,0.0001797008,0.00001823828,0.001147428],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00354955,"threshold_uncertainty_score":0.008927941,"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."}}