{"id":"W4402516134","doi":"10.1002/ajmg.a.63860","title":"X‐Linked Bilateral Polymicrogyria With Epilepsy and Intellectual Disability Associated With a Novel <scp><i>KIF4A</i></scp> Variant","year":2024,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université Laval; Centre hospitalier universitaire de Québec; Université de Montréal; Centre Hospitalier de l’Université de Montréal","funders":"Fonds de Recherche du Québec - Santé; Fondation de l'Association des radiologistes du Québec; Savoy Foundation","keywords":"Polymicrogyria; Microcephaly; Intellectual disability; Corpus callosum; Epilepsy; Exome sequencing; Hypoplasia; Phenotype; Dysgenesis; Medicine; Cortical dysplasia; Biology; Neuroscience; Genetics; Anatomy; Gene","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0001749147,0.001297464,0.0003969606,0.0007364292,0.0006672512,0.0003407394,0.0005270959,0.00100159,0.002260919],"category_scores_gemma":[0.000650842,0.0002757706,0.0003762302,0.0005018914,0.0007869547,0.0002222618,0.0005456632,0.0006018686,0.0002905648],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003028443,"about_ca_system_score_gemma":0.0003093604,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002098498,"about_ca_topic_score_gemma":0.00214482,"domain_scores_codex":[0.9997687,0.00002786113,0.00002848525,0.00007382284,0.00005600881,0.00004514986],"domain_scores_gemma":[0.9995994,0.0001275406,0.0001298175,0.00002275619,0.00002821473,0.00009226637],"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":[0.0003191877,0.0001617164,0.06189117,0.00009719629,0.0001434769,0.8487158,0.0008445805,0.0004365207,0.07987148,0.0008533841,0.0006402488,0.006025224],"study_design_scores_gemma":[0.00008546354,0.000338678,0.1212815,0.00002368303,0.0001155788,0.8628843,0.000276233,0.0009694142,0.01169462,0.0004275603,0.001871345,0.00003168095],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9973419,0.000228835,0.0006435016,0.0001965795,0.00001892414,0.00002256392,0.0001536362,0.0000280341,0.001365982],"genre_scores_gemma":[0.9990471,0.000071501,0.0003848577,0.00004879983,0.00002328908,0.000005841441,0.00006567148,0.000007896403,0.0003450393],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002260919,"threshold_uncertainty_score":0.007563531,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007837607896433771,"score_gpt":0.2293056356254838,"score_spread":0.22146802772905,"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."}}