{"id":"W3119527100","doi":"10.1136/jmedgenet-2020-107430","title":"Biallelic variants in <i>ZNF526</i> cause a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyration","year":2021,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"Hedgehog Signaling Pathway Studies","field":"Biochemistry, Genetics and Molecular Biology","cited_by":11,"is_retracted":false,"has_abstract":true,"ca_institutions":"Kingston Health Sciences Centre; Queen's University","funders":"","keywords":"Microcephaly; Epilepsy; Medicine; Pediatrics; Genetics; Biology; Psychiatry","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":[0.0001703626,0.001616728,0.0004564475,0.0008851202,0.001151882,0.0003267786,0.0003333906,0.0006727961,0.002837764],"category_scores_gemma":[0.0006242486,0.0002482318,0.0003925379,0.0005190708,0.0007045396,0.0001910739,0.0005953455,0.0004058343,0.0004366389],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003503188,"about_ca_system_score_gemma":0.0002799162,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003183244,"about_ca_topic_score_gemma":0.004727458,"domain_scores_codex":[0.9997079,0.00002007983,0.00003900102,0.0001177377,0.00005868544,0.00005663057],"domain_scores_gemma":[0.9997299,0.00005108721,0.0001027429,0.00001514421,0.00002052536,0.00008060381],"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":[0.0008855661,0.0002347468,0.2924992,0.0001754368,0.000308468,0.3953585,0.001545188,0.0005880462,0.2791915,0.0008725328,0.002460613,0.02588024],"study_design_scores_gemma":[0.00009767891,0.0003878892,0.3572615,0.00004246393,0.0002250688,0.6083606,0.0004524391,0.0008802604,0.02868554,0.0003148312,0.003252517,0.00003919067],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9961429,0.0003169922,0.001253702,0.0001343473,0.00001471484,0.00004316139,0.0003100738,0.00007953683,0.001704503],"genre_scores_gemma":[0.9982767,0.0001137098,0.0007886831,0.00009381733,0.00002244887,0.000009819953,0.0001721011,0.0000149779,0.000507621],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003183244,"threshold_uncertainty_score":0.009493291,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01284523446886029,"score_gpt":0.2589346942552929,"score_spread":0.2460894597864326,"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."}}