{"id":"W2313749244","doi":"10.1038/gim.2016.18","title":"The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations","year":2016,"lang":"en","type":"erratum","venue":"Genetics in Medicine","topic":"Dermatological and Skeletal Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":83,"is_retracted":false,"has_abstract":false,"ca_institutions":"McMaster University Medical Centre","funders":"Intellectual and Developmental Disabilities Research Center; Oogfonds; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Research to Prevent Blindness; Doris Duke Charitable Foundation","keywords":"Missense mutation; Phenotype; Genetics; Biology; Allele; Autism spectrum disorder; Atrophy; Corpus callosum; Genotype; Autism; Gene; Medicine; Neuroscience","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":[0.000391803,0.0003671413,0.0006707517,0.00009842727,0.000153312,0.00001853151,0.000425006,0.0007397662,0.00006833483],"category_scores_gemma":[0.001049501,0.0002261433,0.0001363117,0.0001823704,0.001056047,0.000003535419,0.0002483513,0.0005393822,0.00001563239],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001499364,"about_ca_system_score_gemma":0.0003187037,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004558323,"about_ca_topic_score_gemma":0.0001522369,"domain_scores_codex":[0.9975889,0.0001701322,0.0009233997,0.0005751163,0.0003096443,0.0004328607],"domain_scores_gemma":[0.9983929,0.0003111323,0.0003502402,0.0006099008,0.0001171983,0.0002186393],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0005308717,0.0002344028,0.02539464,0.0004476144,0.0006423653,0.0003211263,0.0001623461,0.00006060101,0.009607976,0.001341012,0.9069342,0.05432285],"study_design_scores_gemma":[0.006410396,0.006825794,0.07457419,0.00185536,0.0008380473,0.0007837266,0.000552289,0.0002755404,0.0004114404,0.009397518,0.8962889,0.001786767],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.5858273,0.3469969,0.002698394,0.004457523,0.02610641,0.001658969,0.0001902958,0.0000525235,0.0320117],"genre_scores_gemma":[0.7959389,0.1196119,0.001821158,0.0005691553,0.002983814,0.00003627625,0.0007784937,0.0001335687,0.07812671],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.227385,"threshold_uncertainty_score":0.9221857,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0270814560058367,"score_gpt":0.3189320158459085,"score_spread":0.2918505598400718,"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."}}