{"id":"W1932504966","doi":"10.1002/ajmg.a.37369","title":"Genotype–phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/<i>PIGN</i>‐related epilepsy","year":2015,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":47,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"National Institute of General Medical Sciences; National Cancer Institute","keywords":"Hypotonia; Hypertelorism; Epilepsy; Pediatrics; Medicine; Intellectual disability; Global developmental delay; Exome sequencing; Muscle Hypotonia; Compound heterozygosity; Camptodactyly; Mutation; Genetics; Phenotype; Anatomy; Biology; Psychiatry","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":[0.0006445834,0.0002479029,0.0005422334,0.000159159,0.00004306918,0.00002333928,0.0004488017,0.0002141555,0.00006552693],"category_scores_gemma":[0.0006446501,0.0002229183,0.0001919247,0.0002461917,0.0007788321,0.00001031379,0.0001584069,0.0002640252,0.00001146303],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003286097,"about_ca_system_score_gemma":0.0007663444,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00007658203,"about_ca_topic_score_gemma":0.0001060902,"domain_scores_codex":[0.9974766,0.0002219448,0.0009561515,0.0002717719,0.0007268596,0.0003467165],"domain_scores_gemma":[0.9980703,0.00008864419,0.0006442769,0.0002782437,0.0003880312,0.0005304898],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.004368797,0.002478499,0.8250073,0.0001204953,0.002950544,0.003691166,0.00405292,0.01226209,0.07939382,0.0002214255,0.005184392,0.06026861],"study_design_scores_gemma":[0.02323963,0.02687981,0.842087,0.0004767043,0.001244284,0.01272113,0.01364411,0.01150949,0.01687435,0.001160282,0.0471151,0.003048134],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9918335,0.006711524,0.000321441,0.0001652843,0.0005579755,0.0001619602,0.00005973502,0.00000562462,0.0001829247],"genre_scores_gemma":[0.9975828,0.0008700265,0.001076784,0.0001523585,0.0001374124,0.000005428708,0.00006718113,0.00003702192,0.00007097558],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.06251947,"threshold_uncertainty_score":0.9090345,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01175492463676665,"score_gpt":0.2425288363143153,"score_spread":0.2307739116775487,"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."}}