{"id":"W2790475777","doi":"10.1016/j.devcel.2018.02.012","title":"Opposing Effects of CREBBP Mutations Govern the Phenotype of Rubinstein-Taybi Syndrome and Adult SHH Medulloblastoma","year":2018,"lang":"en","type":"article","venue":"Developmental Cell","topic":"Hedgehog Signaling Pathway Studies","field":"Biochemistry, Genetics and Molecular Biology","cited_by":45,"is_retracted":false,"has_abstract":false,"ca_institutions":"McMaster University; Hospital for Sick Children; University of British Columbia; BC Cancer Agency; University of Toronto; SickKids Foundation; Canada's Michael Smith Genome Sciences Centre","funders":"Garron Family Cancer Centre; Brain Tumour Research; Fördergemeinschaft Kinderkrebs-Zentrum Hamburg; Hospital for Sick Children; Terry Fox Research Institute; Genome British Columbia; Pediatric Oncology Group of Ontario; Deutsche Krebshilfe; Wilhelm Sander-Stiftung; Fondation de l'Hôpital de Montréal pour enfants; Ontario Institute for Cancer Research; Children's Hospital Foundation; Genome Canada","keywords":"Biology; Medulloblastoma; GLI2; Sonic hedgehog; Phenotype; Cancer research; Genetics; Signal transduction; 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":[0.0002760353,0.0004328134,0.0003684993,0.0009152709,0.0002292515,0.0003491426,0.0004605205,0.0003977366,0.001459493],"category_scores_gemma":[0.0006410567,0.000327729,0.0002043073,0.0002970641,0.001014642,0.0003640781,0.0005237592,0.0005406879,0.0003672662],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004232454,"about_ca_system_score_gemma":0.000354156,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001339524,"about_ca_topic_score_gemma":0.002702032,"domain_scores_codex":[0.9996165,0.00006655732,0.00004387342,0.00006476155,0.0001085461,0.00009970742],"domain_scores_gemma":[0.9994714,0.0001610734,0.0001417775,0.00006519884,0.00003053848,0.0001301227],"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":[0.0002129172,0.00002000501,0.002218734,0.00001277213,0.000006158419,0.0003811987,0.00004587374,0.0001072525,0.9953462,0.000632972,0.0000276679,0.0009881927],"study_design_scores_gemma":[0.00007883286,0.0002306004,0.09622287,0.00001424656,0.00006268845,0.005838341,0.0003267771,0.002249278,0.8928183,0.0007230051,0.001403044,0.0000320061],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9979725,0.0002691189,0.0005287884,0.00003290035,0.000005920179,0.000005192937,0.0001434673,0.00003747943,0.001004577],"genre_scores_gemma":[0.9987645,0.0001512159,0.0004283713,0.00001348616,0.000004336246,0.000008130229,0.00009622268,0.00003342271,0.0005004298],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001459493,"threshold_uncertainty_score":0.004882455,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004460865830586684,"score_gpt":0.2000625730321358,"score_spread":0.1956017072015491,"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."}}