{"id":"W2520289738","doi":"10.1016/j.ajhg.2016.08.007","title":"Recurrent De Novo and Biallelic Variation of ATAD3A , Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes","year":2016,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":192,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University; Montreal Children's Hospital","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of Neurological Disorders and Stroke; National Institute of General Medical Sciences; National Institute on Deafness and Other Communication Disorders; National Human Genome Research Institute; National Institutes of Health","keywords":"Biology; Mitochondrion; DNAJA3; Genetics; Mitophagy; mitochondrial fusion; Inner mitochondrial membrane; MFN2; Cell biology; Mitochondrial DNA; Molecular biology; Gene; Autophagy","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004248107,0.0001057084,0.0002464211,0.00007493222,0.00004506455,0.000009319758,0.0001860369,0.00005260038,0.000009753126],"category_scores_gemma":[0.0003845543,0.00006217975,0.00006846817,0.00008636036,0.0002780618,0.000003227703,0.00007119647,0.0001147073,6.440854e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001105031,"about_ca_system_score_gemma":0.0000596686,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000007893453,"about_ca_topic_score_gemma":0.00003056675,"domain_scores_codex":[0.9986963,0.0003716085,0.0004829827,0.0001627914,0.000125822,0.0001605413],"domain_scores_gemma":[0.9990124,0.00006828739,0.0005703116,0.0001978142,0.00008853814,0.00006264649],"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":[0.001411302,0.00004977456,0.001331867,0.000005666662,0.00002161649,0.00001423877,0.0001982557,0.00002201187,0.9915,0.00004103929,0.00004351457,0.005360699],"study_design_scores_gemma":[0.01856677,0.05974899,0.4216649,0.0005203538,0.000331782,0.004330902,0.0005188275,0.0001628757,0.4789381,0.003381937,0.01065654,0.001178009],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9974759,0.0001754654,0.001459606,0.0005276079,0.0001723504,0.000129859,0.00001200528,0.000002025544,0.00004522118],"genre_scores_gemma":[0.9979122,0.0003010778,0.001270411,0.00007001487,0.0003855612,0.000002741132,0.000002620017,0.000009392791,0.0000459997],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5125619,"threshold_uncertainty_score":0.2535617,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02106049651833265,"score_gpt":0.2694895941652356,"score_spread":0.248429097646903,"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."}}