{"id":"W4395689028","doi":"10.1038/s41431-024-01610-1","title":"Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals","year":2024,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":8,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Calgary; Hospital for Sick Children; McMaster University Medical Centre; Western University; SickKids Foundation; University of Toronto","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of General Medical Sciences; National Institute on Aging; National Human Genome Research Institute; U.S. Department of Health and Human Services","keywords":"Phenotype; Neurodevelopmental disorder; Medicine; Genetics; Autism spectrum disorder; Biology; Psychiatry; Gene","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":[0.0004043028,0.001049858,0.0007876013,0.002121955,0.001253202,0.0004832409,0.0005683594,0.0003489493,0.005847],"category_scores_gemma":[0.001986152,0.0003307396,0.0004932257,0.001031173,0.0005191455,0.0003268107,0.001518938,0.0004945059,0.0009175941],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003566754,"about_ca_system_score_gemma":0.0003755607,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004774357,"about_ca_topic_score_gemma":0.003104755,"domain_scores_codex":[0.9989629,0.00009961903,0.0001459669,0.0003413075,0.0003082299,0.0001419501],"domain_scores_gemma":[0.9996024,0.00008175081,0.00007667505,0.00007583317,0.00005994631,0.0001035417],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0007380683,0.0005272373,0.8658475,0.00008474007,0.0001816609,0.0735034,0.004457993,0.0002636401,0.02606007,0.000353182,0.0007266959,0.02725596],"study_design_scores_gemma":[0.00007871855,0.0007382332,0.9000992,0.00003970807,0.0001735673,0.09002697,0.001127893,0.0003142913,0.002288052,0.0002417941,0.004826656,0.00004483024],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9983436,0.0001283962,0.0002567248,0.00001858596,0.000007796397,0.00003604103,0.0003847164,0.00001069261,0.0008132808],"genre_scores_gemma":[0.9972008,0.0002083,0.0006126753,0.00004071746,0.00002438923,0.00007172279,0.0008863574,0.00001268127,0.0009423697],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005847,"threshold_uncertainty_score":0.01956016,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007337066289649737,"score_gpt":0.213933835410723,"score_spread":0.2065967691210733,"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."}}