{"id":"W4391178936","doi":"10.1016/j.ajhg.2023.12.016","title":"Role of CAMK2D in neurodevelopment and associated conditions","year":2024,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Cardiomyopathy and Myosin Studies","field":"Medicine","cited_by":32,"is_retracted":false,"has_abstract":false,"ca_institutions":"Stollery Children's Hospital; University of Alberta Hospital; University of Alberta","funders":"National Institute of General Medical Sciences; Nederlandse Organisatie voor Wetenschappelijk Onderzoek","keywords":"Gene isoform; Neurodevelopmental disorder; Isozyme; Loss function; Cardiomyopathy; Intellectual disability; Genetics; Biology; Gene; Dilated cardiomyopathy; Neuroscience; Medicine; Phenotype; Internal medicine; Heart failure; Enzyme","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":[0.0003274007,0.0004497367,0.0003814997,0.001279288,0.0004268059,0.0006740903,0.0005896313,0.0008938828,0.001881863],"category_scores_gemma":[0.0008625828,0.0001001453,0.0002742582,0.000732842,0.0007373492,0.0003015674,0.0004789981,0.000447789,0.0001746874],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007617507,"about_ca_system_score_gemma":0.0004865925,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002553799,"about_ca_topic_score_gemma":0.002032511,"domain_scores_codex":[0.9997917,0.0000369596,0.0000228072,0.00005502135,0.00004759648,0.00004603861],"domain_scores_gemma":[0.9996748,0.00009230845,0.0001091562,0.00001736167,0.00003412033,0.00007233484],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.005805372,0.000521772,0.4144231,0.001777907,0.001252228,0.07204447,0.0007219155,0.002164911,0.2251533,0.02884289,0.01252294,0.2347692],"study_design_scores_gemma":[0.0002766234,0.0004930997,0.8144053,0.001102385,0.0006953004,0.06346181,0.0009963053,0.003619518,0.04527778,0.01557882,0.05400308,0.00009000323],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.7982185,0.1682562,0.002288955,0.004862067,0.0006582803,0.00004090204,0.001396763,0.00007971815,0.02419857],"genre_scores_gemma":[0.9756482,0.02036318,0.001207257,0.0004430988,0.0002460885,0.00002442442,0.0003698478,0.00001335823,0.001684476],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002553799,"threshold_uncertainty_score":0.006295502,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01285093271425775,"score_gpt":0.2897011950774468,"score_spread":0.2768502623631891,"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."}}