{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004867481,0.0008567031,0.0006301648,0.001813435,0.001048809,0.0006128413,0.0004761722,0.0005254098,0.00127527],"category_scores_gemma":[0.003370762,0.0002292217,0.0003014757,0.001363283,0.0005844616,0.0003757411,0.0007837098,0.0003391474,0.0003125431],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005527296,"about_ca_system_score_gemma":0.000394797,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002950728,"about_ca_topic_score_gemma":0.001804963,"domain_scores_codex":[0.9993788,0.00007884457,0.0001234666,0.0001718131,0.0001471576,0.00009992423],"domain_scores_gemma":[0.9990227,0.0002818637,0.0001858349,0.0000786006,0.0001485656,0.0002825061],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"case_report","study_design_scores_codex":[0.0004574273,0.0002088094,0.9187285,0.00007307145,0.00005387945,0.04685732,0.002030082,0.0002313201,0.006510676,0.00007662125,0.0003957366,0.02437663],"study_design_scores_gemma":[0.00004347893,0.0006218319,0.9058818,0.00002111143,0.00005312863,0.0892565,0.0009936158,0.0002768085,0.001239351,0.00008516237,0.001498148,0.00002917301],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9989437,0.0001867426,0.0001262753,0.00002659223,0.000003686138,0.0000247899,0.0002176548,0.000007028442,0.0004634383],"genre_scores_gemma":[0.9983082,0.0002193145,0.0003688753,0.00003550128,0.00001534578,0.00004428486,0.0007896107,0.000007684613,0.0002111683],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002950728,"threshold_uncertainty_score":0.005867124,"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."}}