{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002121202,0.0008505219,0.0003033616,0.001201526,0.0004086751,0.0004141854,0.0003550932,0.0006406069,0.001579895],"category_scores_gemma":[0.001405544,0.0002042805,0.0002181886,0.0005903668,0.0004793338,0.000154073,0.0003204965,0.0002922667,0.0003454223],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002533727,"about_ca_system_score_gemma":0.0002525344,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002688207,"about_ca_topic_score_gemma":0.002232198,"domain_scores_codex":[0.9996762,0.00005088331,0.00002919145,0.000119462,0.00006204892,0.00006217154],"domain_scores_gemma":[0.999662,0.00008150595,0.0001065594,0.00001610932,0.00003322016,0.0001005685],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005970877,0.0001780453,0.751183,0.00006215705,0.0001029655,0.1391382,0.001188718,0.0005767744,0.08864064,0.0006718076,0.001213926,0.01644671],"study_design_scores_gemma":[0.00006238817,0.0004765643,0.7584713,0.0000222569,0.00009457149,0.2313378,0.0005305306,0.0007956586,0.005731829,0.0002858936,0.002154831,0.00003637845],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9983461,0.0001336847,0.0002709567,0.00009908223,0.00000621236,0.00001649746,0.0001787378,0.00001359475,0.000935084],"genre_scores_gemma":[0.9988532,0.00009838954,0.000414791,0.0000676944,0.00001809941,0.00001640983,0.0002015392,0.000008554513,0.0003214098],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002688207,"threshold_uncertainty_score":0.005345166,"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."}}