{"id":"W4367692461","doi":"10.1038/s41431-023-01368-y","title":"Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome","year":2023,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Peptidase Inhibition and Analysis","field":"Medicine","cited_by":52,"is_retracted":false,"has_abstract":true,"ca_institutions":"Princess Margaret Cancer Centre; University of Toronto; University Health Network","funders":"Office of Extramural Research, National Institutes of Health; National Institute of General Medical Sciences; National Institutes of Health; Office for People With Developmental Disabilities; U.S. Department of Health and Human Services","keywords":"Phenotype; Neurodevelopmental disorder; Genetics; Biology; 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":[0.0002600887,0.0007891806,0.0003417843,0.001114463,0.000302083,0.0002102396,0.0003163886,0.0003151075,0.002285196],"category_scores_gemma":[0.001285708,0.0001273016,0.0001935093,0.0004884478,0.0006345801,0.0002565679,0.0009449233,0.0002294426,0.0002056514],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001924437,"about_ca_system_score_gemma":0.0002975854,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002275625,"about_ca_topic_score_gemma":0.002814418,"domain_scores_codex":[0.9995503,0.0000866867,0.00005853992,0.0001135251,0.0001307839,0.00006020185],"domain_scores_gemma":[0.9996903,0.00009358514,0.00008955927,0.00002065713,0.00004564814,0.00006022355],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003746645,0.0001025815,0.7612419,0.0001307638,0.000100546,0.1354472,0.002465604,0.0004431453,0.05826048,0.0009615764,0.000683127,0.03978851],"study_design_scores_gemma":[0.00001974396,0.0002813908,0.7032838,0.00005769973,0.00005021035,0.2849851,0.001248169,0.0006262097,0.006368875,0.0006444742,0.002415044,0.00001922568],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9966782,0.0003105565,0.0006284633,0.00008274035,0.000007902856,0.00001894741,0.0001137197,0.00002119637,0.002138158],"genre_scores_gemma":[0.9984934,0.0002434819,0.0007210942,0.00007776525,0.000007775587,0.000008674857,0.0001067735,0.000007725871,0.0003332691],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002285196,"threshold_uncertainty_score":0.007644713,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01907889367612884,"score_gpt":0.2506961232371442,"score_spread":0.2316172295610154,"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."}}