{"id":"W2972514319","doi":"10.1093/hmg/ddz208","title":"Aberrant mitochondrial function in patient-derived neural cells from CDKL5 deficiency disorder and Rett syndrome","year":2019,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":24,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Guelph","funders":"National Human Genome Research Institute; National Institute of Mental Health; LouLou Foundation","keywords":"Rett syndrome; Biology; Mitochondrion; Bioenergetics; Mutant; Neurodevelopmental disorder; Mitochondrial disease; Cell biology; Genetics; Mitochondrial DNA; Neuroscience; Gene","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":[0.00009072261,0.0001847668,0.0002120792,0.0004019864,0.0001753069,0.0002608148,0.00013173,0.0002758224,0.0009125459],"category_scores_gemma":[0.0003628662,0.00008521134,0.0001621937,0.0002733959,0.0002027933,0.0001014676,0.000175027,0.0001995833,0.0002833885],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002756647,"about_ca_system_score_gemma":0.0001312466,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009978228,"about_ca_topic_score_gemma":0.001536093,"domain_scores_codex":[0.9998941,0.00001167447,0.00002348317,0.00003179377,0.00002924655,0.00000973868],"domain_scores_gemma":[0.9999274,0.00001919518,0.0000138042,0.00001304419,0.000009850967,0.00001667296],"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":[0.0004914326,0.00004021078,0.01505407,0.00007661685,0.000039591,0.00512401,0.0002787907,0.0002621882,0.9733652,0.0002064422,0.00009579673,0.004965719],"study_design_scores_gemma":[0.00007955088,0.0009561619,0.2589029,0.00003678713,0.0001459103,0.07019016,0.0009708807,0.003112138,0.6581964,0.0006325322,0.006736735,0.00003991032],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9981676,0.0003769961,0.0004999698,0.00002801383,0.000007704943,0.000008602431,0.0004510615,0.00001222268,0.0004477046],"genre_scores_gemma":[0.9977702,0.0002896078,0.0007985239,0.00001681907,0.000001544467,0.00001106232,0.0008215302,0.000005440705,0.0002853893],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0009978228,"threshold_uncertainty_score":0.003052771,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005227450940167249,"score_gpt":0.1948653559900174,"score_spread":0.1896379050498502,"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."}}