{"id":"W4323294333","doi":"10.1097/mcd.0000000000000455","title":"The PHF21A neurodevelopmental disorder: an evaluation of clinical data from 13 patients","year":2023,"lang":"en","type":"article","venue":"Clinical Dysmorphology","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Institute of Genetics; Medical Research Council; National Institute for Health and Care Research","keywords":"Intellectual disability; Medicine; Hypotonia; Neurodevelopmental disorder; Phenotype; Genetics; Autism; Psychiatry; Pediatrics; Gene; Biology","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.003315681,0.0001191583,0.0002497691,0.00001953254,0.0001439559,0.00001629805,0.0007847456,0.0002415434,0.0001087049],"category_scores_gemma":[0.002050163,0.00009095101,0.00009992914,0.00009309427,0.000330336,0.000009368231,0.0007376769,0.0001600976,0.0001116628],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000004914969,"about_ca_system_score_gemma":0.0002295593,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00007163457,"about_ca_topic_score_gemma":0.0003071856,"domain_scores_codex":[0.9969119,0.000987645,0.001068795,0.000574579,0.0002339241,0.0002231168],"domain_scores_gemma":[0.9979184,0.0003452321,0.0003005675,0.001129635,0.0002223302,0.00008387231],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001589181,0.0003869419,0.9375789,0.000002267756,0.000113518,0.000001435691,0.00002832393,0.00004448242,0.000374431,0.00005078716,0.01166811,0.04959185],"study_design_scores_gemma":[0.001570379,0.000454672,0.9632422,0.000002278855,0.0000653908,0.000001277292,0.000129395,0.001816798,0.0001114996,0.0004891352,0.0320024,0.0001145576],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9971659,0.0001102997,0.00004527337,0.0002315116,0.001535717,0.0002160634,0.0004155473,0.00001514383,0.0002645872],"genre_scores_gemma":[0.9910184,0.0004723584,0.0001920025,0.0002584503,0.0003697572,0.00001911398,0.007484702,0.00001709661,0.0001680777],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.04947729,"threshold_uncertainty_score":0.3708875,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.158727599969448,"score_gpt":0.4209666335025531,"score_spread":0.2622390335331051,"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."}}