{"id":"W2075458118","doi":"10.1038/ng.3113","title":"Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm","year":2014,"lang":"en","type":"article","venue":"Nature Genetics","topic":"Skin and Cellular Biology Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":156,"is_retracted":false,"has_abstract":false,"ca_institutions":"Centre Hospitalier de l’Université de Montréal; Université du Québec à Chicoutimi; Canada's Michael Smith Genome Sciences Centre; Centre hospitalier universitaire de Québec; BC Cancer Agency; Centre Hospitalier Universitaire Sainte-Justine; Université de Montréal","funders":"Canadian Institutes of Health Research; CHU Sainte-Justine Foundation; Université de Montréal; University of Toronto; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; ZonMw; Fondation Leducq; Fondation du Grand défi Pierre Lavoie; Ontario Genomics Institute; Génome Québec; Genome British Columbia; University of Ottawa; McGill University; Ontario Genomics; Genome Canada","keywords":"Biology; Zebrafish; Cohesin; Pathological; Cell biology; Endocrinology; Internal medicine; Genetics; Chromosome; Medicine","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":[0.0002026988,0.00269143,0.0007439949,0.00138221,0.0008393632,0.0006038524,0.0009600432,0.002593668,0.00278521],"category_scores_gemma":[0.001081435,0.0004827618,0.0009324129,0.0008170767,0.001531729,0.0002876455,0.001218516,0.001069369,0.0006649062],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006038633,"about_ca_system_score_gemma":0.0003612819,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001869569,"about_ca_topic_score_gemma":0.00270899,"domain_scores_codex":[0.9997132,0.00003587381,0.00004656285,0.00007574031,0.00007311149,0.00005547678],"domain_scores_gemma":[0.9987472,0.0004390834,0.0003952322,0.00004787979,0.0000500677,0.0003204053],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.00113614,0.0001738687,0.01860663,0.0002165895,0.0003326134,0.5106663,0.000868193,0.001303706,0.4536925,0.001711142,0.00146903,0.009823225],"study_design_scores_gemma":[0.001075464,0.001445352,0.1644129,0.0002464872,0.001201987,0.6254942,0.001221578,0.008410476,0.1773167,0.002533318,0.01629085,0.0003506568],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9937179,0.0006808515,0.002241586,0.0005271719,0.0002062242,0.00006459304,0.0006052611,0.0002190705,0.001737286],"genre_scores_gemma":[0.997136,0.0001638711,0.001154669,0.0001395584,0.00006878193,0.00001504049,0.0002528765,0.00005335512,0.001015882],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00278521,"threshold_uncertainty_score":0.009317458,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01053513791214014,"score_gpt":0.2867796058379199,"score_spread":0.2762444679257798,"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."}}