{"id":"W4413817807","doi":"10.1126/sciadv.adv0381","title":"Pathogenic variants in MAEA disrupt DNA replication fork stability and are associated with developmental abnormalities in humans","year":2025,"lang":"en","type":"article","venue":"Science Advances","topic":"DNA Repair Mechanisms","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hôpital de l'Enfant-Jésus; University of Alberta","funders":"","keywords":"Biology; RAD51; Ubiquitin ligase; Genome instability; Genetics; Ubiquitin; DNA replication; Chromosome instability; Cell biology; DNA repair; DNA damage; Gene; DNA; Chromosome","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":[0.0001676996,0.001637629,0.0003888462,0.001484434,0.0005128466,0.0003807757,0.000359492,0.0009478593,0.00446369],"category_scores_gemma":[0.0005940251,0.0002499497,0.0003943051,0.0009151729,0.0004531133,0.0002028776,0.0004878102,0.0003734831,0.0005958325],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001989358,"about_ca_system_score_gemma":0.0001479945,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001090741,"about_ca_topic_score_gemma":0.001017625,"domain_scores_codex":[0.9997268,0.00004650375,0.00003493106,0.0001092198,0.00005764791,0.00002487278],"domain_scores_gemma":[0.9998055,0.00003907014,0.00009463972,0.00001509734,0.00001361581,0.00003211165],"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":[0.002240307,0.0003899758,0.1483987,0.0003119775,0.000922545,0.09109822,0.0005123076,0.002018111,0.70507,0.003875627,0.003214921,0.04194736],"study_design_scores_gemma":[0.0002746621,0.001295014,0.5793819,0.00031707,0.001102055,0.2769201,0.0004130471,0.005000238,0.1076545,0.003692062,0.0238339,0.0001155861],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9876474,0.002427419,0.0046945,0.0002867522,0.00006390622,0.00006487126,0.001324067,0.0003062167,0.003184821],"genre_scores_gemma":[0.9954453,0.0006478266,0.001798304,0.0001000894,0.00003947673,0.00001583546,0.0004897749,0.00003573603,0.001427654],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00446369,"threshold_uncertainty_score":0.01493257,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00963221802688851,"score_gpt":0.2621660929759924,"score_spread":0.2525338749491038,"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."}}