{"id":"W2099931129","doi":"10.1136/jmg.2009.070573","title":"Duplications of the critical Rubinstein–Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome","year":2009,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"Congenital limb and hand anomalies","field":"Biochemistry, Genetics and Molecular Biology","cited_by":123,"is_retracted":false,"has_abstract":true,"ca_institutions":"Child and Family Research Institute; University of British Columbia","funders":"Fonds Wetenschappelijk Onderzoek; Institut National de la Santé et de la Recherche Médicale; Agence Nationale de la Recherche; Genome Canada","keywords":"Gene duplication; Genetics; Phenotype; Biology; Proband; Rubinstein–Taybi syndrome; Karyotype; Chromosome; Gene; Mutation","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0002500358,0.0001080574,0.0001808769,0.00004357072,0.00007187118,0.00001677089,0.0003515943,0.0002107858,0.00003836018],"category_scores_gemma":[0.0005492695,0.00007428906,0.0001694623,0.000104916,0.0001602352,0.000004205397,0.00005528361,0.0002186394,0.000002959672],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000137389,"about_ca_system_score_gemma":0.0001856306,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":5.50504e-7,"about_ca_topic_score_gemma":0.000004500337,"domain_scores_codex":[0.9986936,0.00004688332,0.0004279269,0.000131396,0.0005365393,0.0001636817],"domain_scores_gemma":[0.9991431,0.00004175472,0.0001783445,0.0002553121,0.0002095721,0.0001719539],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0004567827,0.003085623,0.003280283,0.0001355521,0.0003391218,0.00018594,0.0002185182,0.0001744648,0.8883255,0.004464064,0.005935863,0.09339835],"study_design_scores_gemma":[0.008677593,0.02197321,0.1170307,0.002177622,0.0009603036,0.01786572,0.0005221784,0.001271956,0.5417684,0.004065626,0.2822533,0.001433347],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9872028,0.001181338,0.001682462,0.008584823,0.0003304219,0.00008223121,0.000009824841,0.00000286468,0.0009232739],"genre_scores_gemma":[0.9969015,0.001161392,0.0003600178,0.000850042,0.0003534819,0.000001533761,0.000004585293,0.00000917226,0.0003582991],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.346557,"threshold_uncertainty_score":0.302942,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02388717100315116,"score_gpt":0.2909267382098618,"score_spread":0.2670395672067106,"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."}}