{"id":"W4220714127","doi":"10.1111/cge.14132","title":"<scp>El‐Hattab‐Alkuraya</scp> syndrome caused by biallelic <scp><i>WDR45B</i></scp> pathogenic variants: Further delineation of the phenotype and genotype","year":2022,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":11,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Saskatchewan; Royal University Hospital","funders":"National Institute of General Medical Sciences; National Institute of Neurological Disorders and Stroke; National Human Genome Research Institute","keywords":"Microcephaly; Missense mutation; Phenotype; Atrophy; Global developmental delay; Loss function; Spastic quadriplegia; Cerebral atrophy; Genetics; Genotype; Biology; Brain size; Medicine; Pathology; Cerebral palsy; Magnetic resonance imaging; 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":[0.0001349715,0.001015763,0.0002798767,0.0007117447,0.0004886721,0.0002225491,0.0002347158,0.0004440304,0.002205946],"category_scores_gemma":[0.0003841739,0.0002325786,0.0002963894,0.0004762868,0.0004958998,0.0001740758,0.0004521566,0.0003240587,0.000341317],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001890763,"about_ca_system_score_gemma":0.0001965245,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002107088,"about_ca_topic_score_gemma":0.002534707,"domain_scores_codex":[0.9998587,0.00001550058,0.00002459065,0.0000420369,0.00002940762,0.00002971097],"domain_scores_gemma":[0.9997891,0.00005147115,0.00006927323,0.00001745643,0.00002266865,0.00005010062],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0005739047,0.0001338392,0.2388247,0.000192336,0.0001959393,0.4607351,0.001826084,0.0003651782,0.271253,0.0005506916,0.0009869407,0.02436227],"study_design_scores_gemma":[0.00006783906,0.0004195804,0.3580397,0.00003147804,0.00009391918,0.619037,0.0003227492,0.0006021743,0.01895982,0.0002110161,0.002187504,0.00002713388],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9980204,0.0001735286,0.0006109109,0.00003810107,0.000005223111,0.00001695684,0.0001360968,0.00002710426,0.0009716784],"genre_scores_gemma":[0.9988445,0.00009615526,0.0004606754,0.00003867837,0.000008681656,0.000007971667,0.0001553857,0.000008594033,0.0003793898],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002205946,"threshold_uncertainty_score":0.007379591,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01599198732689431,"score_gpt":0.270099356427178,"score_spread":0.2541073691002836,"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."}}