{"id":"W4220881985","doi":"10.1159/000522486","title":"Pre- and Postnatal Characterization of Autosomal Recessive &lt;b&gt;&lt;i&gt;KIDINS220&lt;/i&gt;&lt;/b&gt;-Associated Ventriculomegaly","year":2022,"lang":"en","type":"article","venue":"Molecular Syndromology","topic":"Fetal and Pediatric Neurological Disorders","field":"Medicine","cited_by":7,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster Children's Hospital","funders":"","keywords":"Ventriculomegaly; Medicine; Fetus; Phenotype; Microcephaly; Exon; Internal medicine; Endocrinology; Biology; Genetics; Pregnancy; Gene; Pediatrics","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"],"consensus_categories":[],"category_scores_codex":[0.0003782561,0.0004811152,0.001012065,0.000410777,0.0002963048,0.00002567049,0.0003686444,0.0004363337,0.0007352303],"category_scores_gemma":[0.000574227,0.0004693246,0.0003062706,0.001011266,0.0003036275,0.0001237222,0.0005244772,0.0005547556,0.00003619371],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001269254,"about_ca_system_score_gemma":0.0001968289,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001635066,"about_ca_topic_score_gemma":0.000007258783,"domain_scores_codex":[0.9960344,0.0007008167,0.0008205115,0.0009346951,0.0007232687,0.0007862696],"domain_scores_gemma":[0.9982553,0.0001670461,0.0005925171,0.0004803853,0.0001959265,0.0003088713],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0008090909,0.00123527,0.002163365,0.0001835335,0.0004168315,0.01733038,0.0003185184,0.00005280758,0.9732364,0.002362793,0.0006786896,0.001212344],"study_design_scores_gemma":[0.01501558,0.01959626,0.8705634,0.000127263,0.002071279,0.0340785,0.00004067346,0.002109741,0.01313355,0.001925594,0.03912596,0.002212205],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.992277,0.002428528,0.0001793066,0.001645207,0.0006231827,0.0009684705,0.0003873232,0.0001662467,0.001324784],"genre_scores_gemma":[0.9956073,0.0003340782,0.00007643011,0.001145958,0.00007071544,0.0001505768,0.001470623,0.00007480691,0.00106953],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.9601029,"threshold_uncertainty_score":0.9997758,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006109145651499744,"score_gpt":0.2156766350125743,"score_spread":0.2095674893610745,"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."}}