{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001000192,0.0007711628,0.0002655555,0.0005249039,0.0001702268,0.0001949867,0.0003032447,0.000343044,0.001526665],"category_scores_gemma":[0.000260738,0.0001832035,0.000235361,0.0002389476,0.0004232442,0.0001053821,0.0004033016,0.0004260232,0.0002805256],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001295851,"about_ca_system_score_gemma":0.0001099623,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006188552,"about_ca_topic_score_gemma":0.00107908,"domain_scores_codex":[0.9998112,0.00002039127,0.00002797374,0.00006877429,0.00004956452,0.00002203822],"domain_scores_gemma":[0.9997732,0.00004700648,0.0001089188,0.00001699934,0.00001321717,0.00004064047],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.000220262,0.00003366266,0.006235806,0.00004573806,0.00005605654,0.003609387,0.00008262684,0.0001312509,0.985677,0.0001457678,0.0001115143,0.00365085],"study_design_scores_gemma":[0.0001045517,0.0008823076,0.2482473,0.00004251666,0.0003277217,0.09010871,0.0003125955,0.003838852,0.6475572,0.0004438038,0.008075415,0.00005909066],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9950386,0.00035477,0.003318158,0.0000545557,0.00001312727,0.00002397224,0.0004793346,0.0001204463,0.0005969849],"genre_scores_gemma":[0.9963843,0.0002637745,0.002007273,0.00004438732,0.00001235696,0.00002217539,0.0004928803,0.00004645833,0.0007264513],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001526665,"threshold_uncertainty_score":0.005107164,"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."}}