{"id":"W4414811919","doi":"10.1002/ajmg.a.64243","title":"<i>ZMIZ1</i> ‐Associated Neurodevelopmental Disorder in a 52‐Year‐Old Woman","year":2025,"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":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"BC Children's Hospital; Providence Health Care; University of British Columbia","funders":"","keywords":"Craniofacial; Neurodevelopmental disorder; Autopsy; Craniofacial abnormality; Genetic disorder; Genitourinary system; Developmental disorder; Hypertelorism","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":[0.00009296562,0.0006881623,0.0003613676,0.0009436547,0.0008350011,0.0003445054,0.0002413727,0.0008708286,0.002165522],"category_scores_gemma":[0.0005063216,0.0002337787,0.0002502259,0.0004017184,0.0004043895,0.0003602923,0.000440351,0.0007468894,0.0005864386],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002934531,"about_ca_system_score_gemma":0.0002921461,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003056498,"about_ca_topic_score_gemma":0.002521366,"domain_scores_codex":[0.9999142,0.000007638825,0.000005197773,0.00002664306,0.00001319148,0.00003312135],"domain_scores_gemma":[0.9998564,0.00002553372,0.00003016836,0.00000613587,0.0000112248,0.00007064724],"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":[0.00008422405,0.00006035632,0.02674944,0.00001617654,0.00001211504,0.9562231,0.000540763,0.0001032933,0.01066736,0.0004608981,0.001248334,0.003833876],"study_design_scores_gemma":[0.00001580121,0.0003218534,0.07672191,0.00003448268,0.0000461153,0.9124835,0.0005400596,0.0006347126,0.003845765,0.0003988061,0.004926874,0.00003024765],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9831891,0.001355451,0.001088008,0.002413441,0.0001778618,0.00005376319,0.0005008721,0.0001316611,0.0110899],"genre_scores_gemma":[0.9949389,0.0007542606,0.0004614065,0.0006843003,0.00009681647,0.000009605584,0.0001172009,0.00002118593,0.002916365],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003056498,"threshold_uncertainty_score":0.007244408,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005172315167262446,"score_gpt":0.2491949937560914,"score_spread":0.2440226785888289,"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."}}