{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000191435,0.001138149,0.0004484126,0.001776457,0.0006833083,0.0005454677,0.0006477284,0.001127614,0.006960562],"category_scores_gemma":[0.0004307821,0.0003776723,0.0003249822,0.000523882,0.001256505,0.0003106869,0.0009465822,0.0006375582,0.0008986789],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0009557556,"about_ca_system_score_gemma":0.0004977894,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003757384,"about_ca_topic_score_gemma":0.006091314,"domain_scores_codex":[0.9996411,0.00005217395,0.00004431249,0.00009267694,0.0001139084,0.00005581904],"domain_scores_gemma":[0.9992975,0.0002180211,0.0002109617,0.00003786435,0.0000460155,0.0001895946],"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":[0.0004368596,0.00009531963,0.002902452,0.0001292389,0.00007242619,0.006724423,0.0001336486,0.00111064,0.9774252,0.003521508,0.001045454,0.006402827],"study_design_scores_gemma":[0.0001308715,0.0001436007,0.01006856,0.00004363889,0.00012565,0.01230545,0.0003222216,0.00451648,0.9481485,0.001464962,0.02265428,0.00007578281],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9772756,0.001416959,0.006503722,0.0008873038,0.0004564192,0.00004644336,0.001279601,0.000426146,0.01170783],"genre_scores_gemma":[0.9858,0.0005024998,0.00222994,0.0001304163,0.00003129776,0.00001948418,0.0004073716,0.000160895,0.01071812],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006960562,"threshold_uncertainty_score":0.02328545,"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."}}