{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005936776,0.000203125,0.0002937144,0.00005172187,0.00005943468,0.0000405135,0.0004214898,0.0002419273,0.00004415388],"category_scores_gemma":[0.0004530346,0.0001130043,0.0001132603,0.00008081083,0.0001438521,0.000005809955,0.0001204233,0.0001902541,0.000008329363],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002229055,"about_ca_system_score_gemma":0.0001584628,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000319644,"about_ca_topic_score_gemma":0.00005777779,"domain_scores_codex":[0.9979879,0.0001552915,0.0006096884,0.000273263,0.0006969114,0.0002769003],"domain_scores_gemma":[0.9990675,0.00009116021,0.0002577424,0.000283748,0.0000686753,0.0002311086],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.003944541,0.003994749,0.05268689,0.0001088426,0.001585223,0.01019487,0.003129655,0.00001878252,0.2523828,0.0001420819,0.01282614,0.6589854],"study_design_scores_gemma":[0.02911017,0.005205263,0.7419866,0.0008140105,0.0005365993,0.00852418,0.0004247457,0.0001929357,0.004822724,0.001068809,0.2062183,0.001095691],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9883327,0.007348962,0.0006777366,0.002786143,0.0004155951,0.0001425598,0.0002017662,0.000002869402,0.00009162644],"genre_scores_gemma":[0.9826414,0.01625088,0.0002868846,0.0003769514,0.0003047771,0.000004906276,0.00004735911,0.00001760416,0.00006924678],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6892997,"threshold_uncertainty_score":0.4608182,"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."}}