{"id":"W2150002562","doi":"10.1111/j.1399-0004.2010.01373.x","title":"Clinical and molecular characterization of individuals with recurrent genomic disorder at 10q22.3q23.2","year":2010,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":26,"is_retracted":false,"has_abstract":true,"ca_institutions":"Dalhousie University; Izaak Walton Killam Health Centre","funders":"","keywords":"Macrocephaly; Arachnodactyly; Hypotonia; Hypertelorism; Medicine; Language delay; Developmental disorder; Global developmental delay; Speech delay; Autism; Pediatrics; Neurodevelopmental disorder; Comparative genomic hybridization; Microdeletion syndrome; Craniofacial abnormality; Craniofacial; Genetics; Phenotype; Psychology; Biology; Psychiatry; Internal medicine; Marfan syndrome; Language development; Chromosome","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":[0.0004381822,0.0001557482,0.0002649954,0.00002438864,0.00006245204,0.00001813187,0.0001765889,0.0002953584,0.00004473719],"category_scores_gemma":[0.00009773881,0.0001346984,0.000104364,0.0000501183,0.0004025707,0.000002813101,0.000258859,0.0001934044,0.000007810325],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000002774892,"about_ca_system_score_gemma":0.00008945697,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000002119175,"about_ca_topic_score_gemma":0.00003164164,"domain_scores_codex":[0.9984941,0.000117745,0.0007030166,0.0003904632,0.0001128307,0.0001817765],"domain_scores_gemma":[0.9990112,0.00003854056,0.0002661899,0.0004318581,0.0001146101,0.0001375995],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00007010289,0.0001629848,0.7483055,0.00001676215,0.00008404426,9.680996e-7,0.00003093687,0.000004708872,0.2437742,0.0001512559,0.0000402627,0.007358257],"study_design_scores_gemma":[0.001255803,0.001088664,0.915654,0.00001143388,0.00009506348,0.00001796297,0.00002560517,0.0000658206,0.02584735,0.00009533013,0.0555758,0.000267151],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9981721,0.0002618165,0.0006459897,0.0001244478,0.0003458653,0.0002083692,0.00009151712,0.000006800194,0.0001431146],"genre_scores_gemma":[0.9942517,0.001187205,0.003549583,0.0002029831,0.0002725435,0.000011177,0.0002640636,0.000026174,0.0002345551],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2179269,"threshold_uncertainty_score":0.549284,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01344406930575052,"score_gpt":0.2889894845737959,"score_spread":0.2755454152680453,"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."}}