{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001858416,0.0006773979,0.0006968809,0.002037945,0.0002987401,0.0003950962,0.000265459,0.0005399217,0.003462443],"category_scores_gemma":[0.0009065425,0.0002065085,0.000314135,0.001211647,0.0004000549,0.0002759018,0.0005484137,0.0002010881,0.0004515985],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001876387,"about_ca_system_score_gemma":0.000174457,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00120115,"about_ca_topic_score_gemma":0.0008268349,"domain_scores_codex":[0.9997129,0.00003487828,0.00004834212,0.00009584016,0.00005083459,0.00005711029],"domain_scores_gemma":[0.9996382,0.0001262388,0.00008697985,0.0000193488,0.00002563063,0.0001035831],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"case_report","study_design_scores_codex":[0.002471915,0.0002457058,0.6776152,0.0003588714,0.000362167,0.1395548,0.002052249,0.0009176726,0.1168158,0.000829245,0.001168115,0.05760833],"study_design_scores_gemma":[0.00007913211,0.0004459623,0.8070165,0.00005157531,0.0001333235,0.1866115,0.0005521121,0.0003203778,0.002393361,0.0002783788,0.002086454,0.00003137127],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9975431,0.001017276,0.0001191471,0.00003837649,0.000005514629,0.000007624724,0.0003256118,0.00001973675,0.0009237953],"genre_scores_gemma":[0.9979646,0.0008595377,0.0003025008,0.00002815865,0.00002355375,0.0000100334,0.0004907945,0.00001531009,0.0003055289],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003462443,"threshold_uncertainty_score":0.01158297,"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."}}