{"id":"W4220881985","doi":"10.1159/000522486","title":"Pre- and Postnatal Characterization of Autosomal Recessive <b><i>KIDINS220</i></b>-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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001333923,0.0005214491,0.0002953716,0.0007691764,0.0002743652,0.0003187733,0.0004281829,0.0008005777,0.001322198],"category_scores_gemma":[0.0009526436,0.0002823365,0.0002390734,0.0002135582,0.0005378813,0.0002995121,0.0003706875,0.0007498351,0.0004560939],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000271508,"about_ca_system_score_gemma":0.0002768658,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002186498,"about_ca_topic_score_gemma":0.001664126,"domain_scores_codex":[0.999846,0.00001546554,0.00001949066,0.00004645575,0.00003456044,0.00003800887],"domain_scores_gemma":[0.9996829,0.0001010347,0.00005360171,0.00001765373,0.0000298174,0.0001149827],"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":[0.0002142345,0.0001193866,0.03321127,0.00004493567,0.00001122002,0.8783275,0.0004128129,0.0001445796,0.078347,0.0003706494,0.0004247466,0.008371608],"study_design_scores_gemma":[0.00001934004,0.0004659293,0.1154523,0.00002730556,0.00002950822,0.8709153,0.0002461328,0.0004490263,0.01059435,0.0001274161,0.001648839,0.00002462735],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9942744,0.0005121232,0.0009361803,0.0002747592,0.00003497741,0.00003204151,0.0003045071,0.00006041602,0.00357047],"genre_scores_gemma":[0.9970335,0.0006137523,0.0008803593,0.00008073637,0.00002923977,0.0000160919,0.0002142763,0.00002170186,0.001110312],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002186498,"threshold_uncertainty_score":0.004423261,"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."}}