{"id":"W2166366700","doi":"10.1007/s00439-013-1403-3","title":"X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome","year":2013,"lang":"en","type":"article","venue":"Human Genetics","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":53,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Toronto; Sunnybrook Health Science Centre","funders":"Lundbeckfonden","keywords":"Microcephaly; Biology; Short stature; Ptosis; Genetics; Hypotonia; Gene duplication; Candidate gene; Sex organ; Gene; Endocrinology","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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.00007096931,0.0003176145,0.0002216797,0.0000461447,0.0001996596,0.0002369089,0.0001696246,0.0002200388,0.00004903038],"category_scores_gemma":[0.00005371998,0.0003335832,0.00006562585,0.00008472089,0.0004319167,0.00001690082,0.0003739217,0.0001338428,0.00001058588],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002181015,"about_ca_system_score_gemma":0.00003119328,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002162013,"about_ca_topic_score_gemma":0.0001051273,"domain_scores_codex":[0.9984916,0.00002578284,0.0003771574,0.0005542046,0.0001693008,0.0003819285],"domain_scores_gemma":[0.9993229,0.00002678347,0.00007050266,0.000270164,0.0001300399,0.0001796274],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.00002458686,0.0003355453,0.2276223,0.00004743734,0.0002214132,0.000001756517,0.000413425,0.000007497494,0.7671322,0.00002628828,0.0009489117,0.003218728],"study_design_scores_gemma":[0.0006018683,0.0005344278,0.9852315,0.000008983706,0.00005218071,0.00007654083,0.0003068088,0.000104761,0.0111092,0.0001764493,0.001272628,0.0005246844],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9981364,0.0006730999,0.0001263473,0.00003775344,0.00006610447,0.0004510088,0.0002060179,0.000025717,0.0002775665],"genre_scores_gemma":[0.9977066,0.0005425585,0.0003071437,0.0001184094,0.0000228667,0.00004522106,0.0007733052,0.00005212566,0.0004317513],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7576092,"threshold_uncertainty_score":0.9999116,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01430108068182528,"score_gpt":0.2267873480260256,"score_spread":0.2124862673442003,"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."}}