{"id":"W2530749077","doi":"10.1136/jmedgenet-2016-104143","title":"Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A&gt;G p.(Tyr89Cys) variant in the <i>ERF</i> gene","year":2016,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"Craniofacial Disorders and Treatments","field":"Biochemistry, Genetics and Molecular Biology","cited_by":26,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; University of Toronto; Mount Sinai Hospital; McGill University Health Centre; Centre Hospitalier Universitaire de Sherbrooke","funders":"National Institute of Mental Health; Wellcome Trust","keywords":"Exome sequencing; Sanger sequencing; Genetics; Craniosynostosis; Proband; Exome; Medicine; Biology; Bioinformatics; Phenotype; Mutation; 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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001840355,0.001157818,0.000407729,0.0009598666,0.0007830663,0.0003460216,0.0003492877,0.0008976887,0.001947266],"category_scores_gemma":[0.0008230516,0.0002251167,0.00037129,0.000869126,0.0007084612,0.0001811681,0.0005581718,0.0005515114,0.0002568051],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003581537,"about_ca_system_score_gemma":0.0003593236,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00193213,"about_ca_topic_score_gemma":0.002686139,"domain_scores_codex":[0.9996791,0.0000301014,0.00004197539,0.0001031308,0.00008555143,0.00006019973],"domain_scores_gemma":[0.9996328,0.0001167049,0.0001091249,0.00001814061,0.00002408572,0.00009902778],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0005564109,0.0001100797,0.1922081,0.000211078,0.0002221301,0.5408356,0.001890906,0.0003145667,0.2468065,0.0005752255,0.0009742586,0.01529509],"study_design_scores_gemma":[0.00006064524,0.0001836538,0.2157772,0.00003180183,0.0001292772,0.7637949,0.0003361142,0.0004460798,0.01628067,0.0001900116,0.002741522,0.00002811278],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9979,0.0003005315,0.0004146769,0.00009625498,0.00001495829,0.0000211494,0.0002332459,0.00003511916,0.0009840007],"genre_scores_gemma":[0.9985254,0.0001794336,0.0005179532,0.00006890156,0.0000251072,0.0000149051,0.000207034,0.0000108857,0.0004503336],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001947266,"threshold_uncertainty_score":0.006514192,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009968436876890627,"score_gpt":0.2432372916487933,"score_spread":0.2332688547719026,"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."}}