{"id":"W2588412823","doi":"10.1038/ng.3790","title":"Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism","year":2017,"lang":"en","type":"article","venue":"Nature Genetics","topic":"DNA Repair Mechanisms","field":"Biochemistry, Genetics and Molecular Biology","cited_by":113,"is_retracted":false,"has_abstract":false,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"National Cancer Institute; Medical Research Council; King Salman Center for Disability Research; Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung; King Abdulaziz City for Science and Technology; Lister Institute of Preventive Medicine; King's College London; National Institute of General Medical Sciences; Bundesministerium für Bildung und Forschung; National Institute for Health and Care Research; Medical Research Scotland; National Science Foundation; Cancer Research UK; E-Rare; Newlife the Charity for Disabled Children","keywords":"Biology; DNA replication; Genetics; Replisome; Genome instability; Cell biology; Pre-replication complex; Dwarfism; Ter protein; DNA replication factor CDT1; Mutation; Control of chromosome duplication; DNA damage; DNA; Gene; Eukaryotic DNA replication","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":[0.0002072419,0.000115704,0.00009811026,0.00002916623,0.0001494516,0.00005545073,0.0002355479,0.0003859793,0.00000359775],"category_scores_gemma":[0.0002916486,0.000123498,0.00003554444,0.00003604046,0.00008726197,0.000004814039,0.0001584132,0.0001896152,0.000002152251],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001910999,"about_ca_system_score_gemma":0.00004225883,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001462401,"about_ca_topic_score_gemma":0.0003683458,"domain_scores_codex":[0.9990813,0.00003262257,0.0001515306,0.0004678683,0.00009273032,0.0001739887],"domain_scores_gemma":[0.9985192,0.000008846337,0.0001046488,0.001226413,0.00007738286,0.00006349125],"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":[0.00003119703,0.00006239278,0.08468177,0.00002590403,0.00002032876,0.00000394901,0.0001378064,0.000004588991,0.9071733,0.0001384649,0.0001902915,0.007529964],"study_design_scores_gemma":[0.0004244659,0.00008388557,0.2487564,0.000009320124,0.00002057755,0.0000160002,0.00004526245,0.00008998064,0.7412428,0.0009562753,0.008185947,0.000169069],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9966126,0.002029272,0.000218737,0.0003290998,0.0001428132,0.0002636433,0.00003875374,0.00001185871,0.00035322],"genre_scores_gemma":[0.9956057,0.0002820915,0.003573096,0.0001697778,0.0001015422,0.00002833189,0.0001024439,0.00001884083,0.0001181468],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1659305,"threshold_uncertainty_score":0.5036102,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01396416536033222,"score_gpt":0.3010778836743786,"score_spread":0.2871137183140464,"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."}}