{"id":"W2092586481","doi":"10.1016/s0092-8674(01)00280-x","title":"Genomic Imprinting Disrupted by a Maternal Effect Mutation in the Dnmt1 Gene","year":2001,"lang":"en","type":"article","venue":"Cell","topic":"Genetic Syndromes and Imprinting","field":"Biochemistry, Genetics and Molecular Biology","cited_by":686,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University; Montreal Children's Hospital","funders":"","keywords":"Biology; Genomic imprinting; Imprinting (psychology); Genetics; DNMT1; Gene; Mutation; DNA methylation; Gene expression","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":[0.0002356472,0.00009765838,0.00007486385,0.00001920031,0.00004543308,0.00003494046,0.0001676022,0.0000618952,0.00001935564],"category_scores_gemma":[0.00001541835,0.00007453588,0.00004626625,0.00005702868,0.00001699045,0.000001444923,0.00006126169,0.00006253592,0.0000273464],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000008235736,"about_ca_system_score_gemma":0.000009401737,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00007053188,"about_ca_topic_score_gemma":0.000007185035,"domain_scores_codex":[0.9993192,0.0000663976,0.0001411438,0.0001982629,0.00006717649,0.0002078191],"domain_scores_gemma":[0.9997103,0.00001128362,0.00005226954,0.0001894357,0.00001116111,0.00002558695],"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":[0.000005215579,0.00001592905,0.05123849,0.000009169175,0.000004503883,0.000006386928,0.00005789162,0.0000372303,0.9445286,3.293911e-7,0.00008364869,0.004012643],"study_design_scores_gemma":[0.0006081228,0.0001668871,0.2240494,0.000005494528,0.000009374466,0.0001574301,0.0000708307,0.0003188514,0.7698457,0.000009773824,0.004632444,0.0001257278],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9972284,0.0004301079,0.0008099716,0.00004016541,0.00007637706,0.0001542955,0.000001924079,0.000005105693,0.001253611],"genre_scores_gemma":[0.9991032,0.00007416228,0.0002088534,0.0001164445,0.00008483905,0.0000160383,0.00004018056,0.00001384243,0.0003424176],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1746829,"threshold_uncertainty_score":0.3039485,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004131198393370567,"score_gpt":0.2174750641249928,"score_spread":0.2133438657316223,"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."}}