{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000111084,0.001259715,0.0005303199,0.0009019545,0.0003498021,0.0003741017,0.0005419662,0.0008645708,0.002367148],"category_scores_gemma":[0.0006210118,0.0003619827,0.0003794198,0.0006041794,0.0009390304,0.0003743998,0.0007762178,0.0003555135,0.0004602745],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003348929,"about_ca_system_score_gemma":0.0002950207,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001361954,"about_ca_topic_score_gemma":0.001903844,"domain_scores_codex":[0.9997695,0.00002138431,0.00002445684,0.00007822382,0.00006624578,0.00004017343],"domain_scores_gemma":[0.9997836,0.00005419557,0.00007063509,0.00001166773,0.00001114521,0.00006870657],"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":[0.0004493287,0.0001417453,0.04765536,0.0001250028,0.000119444,0.6951975,0.001213074,0.001547758,0.2342582,0.004821638,0.001251578,0.0132194],"study_design_scores_gemma":[0.0001160781,0.0003122292,0.1251691,0.00002119446,0.0001151581,0.8392461,0.0003920929,0.002154655,0.02623565,0.001752826,0.004440386,0.00004459315],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9943113,0.0003613571,0.001733953,0.0001506182,0.00001964598,0.00003122181,0.0003028938,0.00007484982,0.003014096],"genre_scores_gemma":[0.996531,0.0002049061,0.001679191,0.00004069957,0.00002339874,0.00001556237,0.0002098419,0.00001673596,0.001278763],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002367148,"threshold_uncertainty_score":0.007918894,"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."}}