{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005380738,0.000276758,0.0003549025,0.00003893286,0.0002496717,0.00003363403,0.000556834,0.0002597712,0.00002427486],"category_scores_gemma":[0.000630038,0.0002383438,0.0002742754,0.0002118854,0.0002869965,0.000003705782,0.0007422974,0.0002725564,0.00001129835],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000176033,"about_ca_system_score_gemma":0.0002449823,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001297166,"about_ca_topic_score_gemma":0.00001624915,"domain_scores_codex":[0.9975085,0.0003843185,0.000766879,0.0006441613,0.0003046132,0.0003914833],"domain_scores_gemma":[0.9982064,0.0002115236,0.0003725468,0.0008224137,0.000179626,0.0002075089],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.00007870349,0.001863323,0.09001651,0.0001498206,0.001023669,0.00006839226,0.0008206041,0.003506926,0.8522708,0.0001285507,0.03374143,0.01633129],"study_design_scores_gemma":[0.00530398,0.003915584,0.4890599,0.00003962305,0.0009850686,0.0002220105,0.001939235,0.002458527,0.0180458,0.001318841,0.476207,0.0005044243],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.985479,0.01221647,0.0003439444,0.0001221418,0.0007089536,0.0004137163,0.0005436169,0.00001508527,0.0001570889],"genre_scores_gemma":[0.9944937,0.002420595,0.0003349668,0.0009739209,0.0002519921,0.00003491212,0.0003308794,0.00007055598,0.001088439],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.834225,"threshold_uncertainty_score":0.9719377,"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."}}