{"id":"W2403173295","doi":"10.1038/gim.2016.53","title":"The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families","year":2016,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Genetic Syndromes and Imprinting","field":"Biochemistry, Genetics and Molecular Biology","cited_by":122,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of British Columbia; Children's & Women's Health Centre of British Columbia; Centre Hospitalier Universitaire de Sherbrooke","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; Intellectual and Developmental Disabilities Research Center; Foundation for Prader-Willi Research","keywords":"Genetics; Hypotonia; Phenotype; Allele; Autism spectrum disorder; Intellectual disability; Disease; Context (archaeology); Biology; Gene; Medicine; Autism; Internal medicine","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":[0.0004457609,0.002566044,0.001178559,0.002403999,0.001688557,0.000589429,0.0007622275,0.0006500472,0.005331343],"category_scores_gemma":[0.002447982,0.0007978422,0.0005345076,0.001318768,0.001797453,0.0005498815,0.001764994,0.0005309026,0.000602593],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003674566,"about_ca_system_score_gemma":0.0003543723,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002215351,"about_ca_topic_score_gemma":0.001711421,"domain_scores_codex":[0.9992929,0.000123895,0.0000970867,0.0001855694,0.0001746371,0.0001259945],"domain_scores_gemma":[0.9992222,0.0003034716,0.0001360019,0.00005631682,0.0000863124,0.0001956779],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0009551953,0.0005718901,0.5333478,0.0001307477,0.000296491,0.3837218,0.0119781,0.0009821753,0.02448732,0.001006465,0.001064791,0.04145722],"study_design_scores_gemma":[0.0001567136,0.0008116948,0.4037946,0.00006967106,0.000361597,0.5812494,0.002966249,0.0007470584,0.003544134,0.001416416,0.004752733,0.0001297866],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9977434,0.0002216089,0.0005872305,0.00005556763,0.000005980576,0.00002358504,0.0001269359,0.00002099623,0.00121481],"genre_scores_gemma":[0.9980074,0.0002326104,0.0006856361,0.00003949245,0.00001862318,0.00003517429,0.0001795164,0.00001700943,0.000784517],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005331343,"threshold_uncertainty_score":0.01783508,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01384374016373491,"score_gpt":0.2566116621732599,"score_spread":0.242767922009525,"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."}}