{"id":"W2002733724","doi":"10.1002/ajmg.a.37058","title":"Mild Angelman syndrome phenotype due to a mosaic methylation imprinting defect","year":2015,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Genetic Syndromes and Imprinting","field":"Biochemistry, Genetics and Molecular Biology","cited_by":20,"is_retracted":false,"has_abstract":true,"ca_institutions":"Library of Parliament; Hospital for Sick Children; University of Toronto","funders":"Bundesministerium für Bildung und Forschung","keywords":"Imprinting (psychology); Angelman syndrome; Genomic imprinting; Phenotype; Genetics; Mosaic; Methylation; DNA methylation; Biology; DNA; Gene; History","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":[0.00006931821,0.0005540263,0.0002182531,0.0003418538,0.0001583131,0.0001368,0.0001678756,0.0002808837,0.002141965],"category_scores_gemma":[0.0005724691,0.0001023032,0.0001558804,0.0001403427,0.0003725363,0.0002169793,0.0002625033,0.0002351731,0.0002739681],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001869301,"about_ca_system_score_gemma":0.000236261,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001169342,"about_ca_topic_score_gemma":0.001765016,"domain_scores_codex":[0.9999355,0.000008983459,0.000006265158,0.00002097006,0.00001566062,0.00001259463],"domain_scores_gemma":[0.9997745,0.00006844664,0.00008757606,0.000009961202,0.00001030364,0.00004919032],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.000346517,0.00004241825,0.0721662,0.0001732226,0.00005648039,0.7821139,0.0005243269,0.0004032245,0.1286434,0.002946906,0.001039072,0.01154443],"study_design_scores_gemma":[0.00004942252,0.00034418,0.1017401,0.00003588117,0.00006536146,0.8721344,0.0002158508,0.0008600697,0.01896164,0.0014858,0.004075574,0.00003157564],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9928671,0.0005598526,0.00171472,0.000350298,0.00004890594,0.00002437198,0.0004175301,0.0001409263,0.00387642],"genre_scores_gemma":[0.9979376,0.0002499944,0.0006867726,0.00005518675,0.00002195929,0.000004677914,0.00008414518,0.00001005808,0.000949676],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002141965,"threshold_uncertainty_score":0.007165551,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02169303154564583,"score_gpt":0.2923779995747847,"score_spread":0.2706849680291388,"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."}}