{"id":"W2033645413","doi":"10.1002/ajmg.a.31946","title":"Craniosynostosis associated with distal 5q‐trisomy: Further evidence that extra copy of <i>MSX2</i> gene leads to craniosynostosis","year":2007,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Craniofacial Disorders and Treatments","field":"Biochemistry, Genetics and Molecular Biology","cited_by":22,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's & Women's Health Centre of British Columbia; McMaster University; Hospital for Sick Children; Hamilton Health Sciences; Hamilton Regional Laboratory Medicine Program","funders":"","keywords":"Craniosynostosis; Trisomy; Craniosynostoses; Microcephaly; Karyotype; Skull; Anatomy; Medicine; Biology; Genetics; Chromosome; 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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0009131324,0.0002934093,0.0005926254,0.0001115566,0.00007165338,0.00002321108,0.0005280413,0.0001729425,0.00009189759],"category_scores_gemma":[0.0005861424,0.0002317684,0.000245,0.0004171662,0.0005019454,0.000008751556,0.0001045253,0.0002302639,0.000005078504],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003964136,"about_ca_system_score_gemma":0.0003130171,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00007886253,"about_ca_topic_score_gemma":0.0002089213,"domain_scores_codex":[0.9970547,0.0001349129,0.0006805427,0.0003326963,0.001310629,0.0004865035],"domain_scores_gemma":[0.9977802,0.0001582934,0.0007578161,0.0003245771,0.0003296613,0.0006494365],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.002522212,0.001364091,0.6874799,0.00002558935,0.001128838,0.0002339253,0.0009077809,0.00008916026,0.2058422,0.000006868755,0.002399032,0.09800042],"study_design_scores_gemma":[0.008698802,0.03007434,0.4314996,0.001616953,0.00123321,0.0004279042,0.002940545,0.00003936349,0.49967,0.00004823484,0.02205803,0.001693025],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.979824,0.001744224,0.01694658,0.0009841245,0.0001853146,0.0001879335,0.00003971814,0.000006534492,0.0000815453],"genre_scores_gemma":[0.9951309,0.002380903,0.001372023,0.0008236112,0.0001696872,0.000004585336,0.00001873215,0.0000482201,0.00005131621],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2938278,"threshold_uncertainty_score":0.9451243,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01665753799654358,"score_gpt":0.287531137541517,"score_spread":0.2708735995449735,"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."}}