{"id":"W2069444368","doi":"10.1002/ajmg.b.31186","title":"Non‐syndromic language delay in a child with disruption in the Protocadherin11X/Y gene pair","year":2011,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part B Neuropsychiatric Genetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":49,"is_retracted":false,"has_abstract":true,"ca_institutions":"Credit Valley Hospital","funders":"","keywords":"Biology; Genetics; Locus (genetics); X chromosome; Gene duplication; Chromosomal translocation; Fluorescence in situ hybridization; Gene; Y chromosome; X-inactivation; Chromosome; Dosage compensation","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":[0.0007388557,0.000245955,0.000314339,0.0001679719,0.00005849892,0.00002539918,0.0008044448,0.0001161871,0.000036964],"category_scores_gemma":[0.00003716162,0.0001714078,0.0001122077,0.000512692,0.0002524029,0.000005480091,0.00009676165,0.000463426,0.000005176783],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001724688,"about_ca_system_score_gemma":0.0002809882,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00007175819,"about_ca_topic_score_gemma":0.000183094,"domain_scores_codex":[0.997612,0.000289475,0.0007632997,0.0002912644,0.0006510045,0.0003929301],"domain_scores_gemma":[0.9988392,0.00002102525,0.0004408056,0.0004289917,0.00008076417,0.0001892315],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001856095,0.003483539,0.9111483,0.0001462601,0.0003652624,0.002920405,0.01563931,0.004570848,0.009188819,0.0001143725,0.001121043,0.04944579],"study_design_scores_gemma":[0.007391878,0.02082752,0.9148951,0.0002318252,0.000274599,0.01897445,0.0116732,0.001124286,0.009820356,0.0001194425,0.01336089,0.001306425],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9966724,0.001061052,0.0008539076,0.0004869192,0.0002063428,0.0004486968,0.000006796023,0.000003343923,0.0002605735],"genre_scores_gemma":[0.9940851,0.001751069,0.003125853,0.0005580098,0.0003708427,0.00004445769,0.000009481976,0.00003763269,0.00001750703],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.04813937,"threshold_uncertainty_score":0.6989806,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00806637340445024,"score_gpt":0.233707939255819,"score_spread":0.2256415658513688,"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."}}