{"id":"W2139567571","doi":"10.1002/ajmg.c.31412","title":"DOORS syndrome: Phenotype, genotype and comparison with Coffin‐Siris syndrome","year":2014,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part C Seminars in Medical Genetics","topic":"Chromatin Remodeling and Cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":48,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"Canadian Institutes of Health Research; Universitair Ziekenhuis Antwerpen; Pécsi Tudományegyetem; Erasmus Universitair Medisch Centrum Rotterdam; Universiteit van Amsterdam; Rijksuniversiteit Groningen; University of Washington; Universität Duisburg-Essen; Great Ormond Street Hospital for Children","keywords":"Coffin; Genotype; Phenotype; Medicine; Doors; Genetics; Dermatology; Biology; Anatomy; Gene","routes":{"ca_aff":true,"ca_fund":true,"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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.002041287,0.0003664019,0.0008669624,0.000143961,0.00007796342,0.00003647936,0.0008604875,0.000405836,0.000154551],"category_scores_gemma":[0.0008113054,0.0002985246,0.0001122257,0.0003823652,0.00134244,0.0000045595,0.0002664177,0.0008185749,0.000006155986],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003853577,"about_ca_system_score_gemma":0.0006799242,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002297425,"about_ca_topic_score_gemma":0.00007972321,"domain_scores_codex":[0.995111,0.0003511328,0.001147537,0.0004860893,0.002315226,0.0005890036],"domain_scores_gemma":[0.9974196,0.0001914424,0.0005698015,0.0004722934,0.0002124931,0.001134372],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0007094219,0.0008579273,0.1059465,0.0001991353,0.0005290558,0.001135156,0.000633862,0.00440573,0.002837416,0.00003674529,0.00974068,0.8729684],"study_design_scores_gemma":[0.02459418,0.06993365,0.1117773,0.009513877,0.00140878,0.0563974,0.005120905,0.128386,0.01246028,0.0008311802,0.5739578,0.005618601],"study_design_candidate":"design_other","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9765909,0.01197927,0.009707359,0.001024889,0.0003867298,0.0001254496,0.000005354193,0.000009218814,0.0001708357],"genre_scores_gemma":[0.9719201,0.01730099,0.008892808,0.001372869,0.000362425,0.000006981152,0.00001789788,0.00006317857,0.00006268814],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8673497,"threshold_uncertainty_score":0.9999467,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007579736042455263,"score_gpt":0.2778843692696605,"score_spread":0.2703046332272053,"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."}}