{"id":"W2552506486","doi":"10.1111/cge.12924","title":"Compound heterozygous mutations in the <i><scp>IFT140</scp></i> gene cause Opitz trigonocephaly C syndrome in a patient with typical features of a ciliopathy","year":2016,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Genetic and Kidney Cyst Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":16,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; SickKids Foundation; Genome Canada; Ontario Genomics; Hospital for Sick Children","funders":"","keywords":"Ciliopathy; Sanger sequencing; Ciliopathies; Exome sequencing; Genetics; Polydactyly; Trigonocephaly; Biology; Exon; Syndactyly; Ciliogenesis; Craniosynostosis; Haploinsufficiency; Mutation; Medicine; Phenotype; 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":[0.0001014973,0.0009390953,0.0003565086,0.0005233652,0.0005295552,0.0002846721,0.0002442326,0.000984158,0.001191456],"category_scores_gemma":[0.0005943986,0.0002382769,0.0003540498,0.0002860506,0.0004954413,0.0001586448,0.0003750412,0.0004107757,0.0002616983],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002557632,"about_ca_system_score_gemma":0.0002604155,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001617718,"about_ca_topic_score_gemma":0.001610485,"domain_scores_codex":[0.999837,0.00001362529,0.0000196857,0.00004319077,0.00003915242,0.00004736987],"domain_scores_gemma":[0.9997355,0.00007828393,0.0000607211,0.00001332275,0.00001678042,0.00009526659],"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":[0.0004324914,0.0001211808,0.1197482,0.0001047102,0.00007564138,0.6985539,0.001079879,0.0004639488,0.1672655,0.0003232849,0.0006823787,0.01114884],"study_design_scores_gemma":[0.00008490983,0.0007640566,0.1993464,0.00003057363,0.0001298024,0.7574326,0.0003625204,0.001417288,0.03703113,0.000230756,0.003114669,0.00005529289],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9988257,0.0001169546,0.0002099546,0.00005625573,0.000007210256,0.0000140672,0.00008064134,0.00001617979,0.0006729148],"genre_scores_gemma":[0.999126,0.00007178727,0.0003974371,0.00005294444,0.00001784804,0.000007153295,0.00009402887,0.000009362875,0.0002234465],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001617718,"threshold_uncertainty_score":0.003985882,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0199230773779327,"score_gpt":0.2887263086023883,"score_spread":0.2688032312244557,"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."}}