{"id":"W2196410047","doi":"10.1038/ejhg.2015.211","title":"A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability","year":2015,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Axon Guidance and Neuronal Signaling","field":"Neuroscience","cited_by":66,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Conny-Maeva Charitable Foundation; Fondation Orange; Centre National de la Recherche Scientifique; Conseil régional de Bourgogne-Franche-Comté; Université Paris Diderot; Agence Nationale de la Recherche; Institut national de la recherche scientifique","keywords":"Semaphorin; Biology; Genetics; Intellectual disability; Sanger sequencing; Autism; Autism spectrum disorder; Microdeletion syndrome; Chromosomal translocation; Gene; Chromosome; Mutation; Medicine; Psychiatry","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002661915,0.001401896,0.001086889,0.002335353,0.001686402,0.0006540611,0.001013205,0.002481757,0.001864181],"category_scores_gemma":[0.001447228,0.0007829783,0.0007324105,0.001013458,0.001400718,0.000632745,0.001013504,0.002033447,0.0004134704],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0009111085,"about_ca_system_score_gemma":0.0009281385,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.007167443,"about_ca_topic_score_gemma":0.007685876,"domain_scores_codex":[0.9993167,0.0000473921,0.00006523409,0.0002779898,0.0001515031,0.0001411301],"domain_scores_gemma":[0.9990495,0.0002958547,0.0001857166,0.00003076483,0.00006569883,0.0003725188],"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":[0.0000568783,0.00008780655,0.01459558,0.00003621371,0.00001897918,0.975176,0.0007796594,0.0002059731,0.005850845,0.0002874616,0.0002885292,0.002616192],"study_design_scores_gemma":[0.00001814089,0.0003714381,0.06508227,0.000032931,0.00004194365,0.9304162,0.0003716277,0.0005261517,0.002050473,0.0001733306,0.0008871147,0.00002835812],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9946418,0.0005785195,0.001112078,0.0009778106,0.0001072372,0.00006511992,0.0003295307,0.00009550199,0.002092496],"genre_scores_gemma":[0.9969032,0.0003831179,0.001299399,0.000285078,0.00007215865,0.00001768535,0.00008699697,0.00002337743,0.0009290284],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007167443,"threshold_uncertainty_score":0.01425141,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04600591915561141,"score_gpt":0.2675615706223916,"score_spread":0.2215556514667801,"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."}}