{"id":"W4401200850","doi":"10.1093/brain/awae185","title":"Biallelic null variants in <i>PNPLA8</i> cause microcephaly by reducing the number of basal radial glia","year":2024,"lang":"en","type":"article","venue":"Brain","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":11,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Institute of Neurological Disorders and Stroke; Ono Medical Research Foundation; Medical Research Council; CURE Childhood Cancer Association; Daiko Foundation; Medical Research Council Canada; LifeArc; Nagoya City University; Deutsche Forschungsgemeinschaft; Kawano Masanori Memorial Public Interest Incorporated Foundation; Japan Agency for Medical Research and Development; Universität zu Köln; Rosetrees Trust; Japan Society for the Promotion of Science; Muscular Dystrophy UK; Ministry of Education, Culture, Sports, Science and Technology; National Center for Child Health and Development","keywords":"Biology; Lysophosphatidic acid; Microcephaly; Neurodegeneration; Neural stem cell; Cell biology; Phenotype; Induced pluripotent stem cell; Genetics; Pathology; Stem cell; Embryonic stem cell; Medicine; Gene","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002489018,0.0001037326,0.0001125939,0.00002960552,0.00003001658,0.00002003653,0.0001326267,0.0001533566,0.0001872723],"category_scores_gemma":[0.0001231312,0.00008238832,0.00006638569,0.0001332378,0.00006215851,0.000002997652,0.00004906051,0.0001196087,0.00005976186],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000008512082,"about_ca_system_score_gemma":0.00008734922,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000155745,"about_ca_topic_score_gemma":0.00009204882,"domain_scores_codex":[0.9991553,0.0001262443,0.0002002483,0.0002785552,0.00006624217,0.0001734152],"domain_scores_gemma":[0.9996554,0.00003966815,0.00003207164,0.0002167012,0.00001848394,0.00003763763],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0000690524,0.00002367144,0.0003489215,0.00001417941,0.00002242449,0.00001322674,0.000139855,0.000007097095,0.7859961,0.0002041258,0.2124038,0.0007575204],"study_design_scores_gemma":[0.001133406,0.0001493164,0.0008980259,0.00006481754,0.00002727169,0.000184734,0.00009262089,0.000151981,0.292355,0.0002937456,0.7043645,0.0002845514],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9890279,0.001327155,0.0008986393,0.00222773,0.001550097,0.0001889664,0.00008274079,0.00001524354,0.00468153],"genre_scores_gemma":[0.9896161,0.0001290801,0.0002559931,0.001973277,0.0007028686,0.00001703933,0.0001039129,0.00002743235,0.007174278],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.493641,"threshold_uncertainty_score":0.3359698,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009562913809932034,"score_gpt":0.264056487552951,"score_spread":0.254493573743019,"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."}}