{"id":"W2955977299","doi":"10.1038/s41436-019-0585-z","title":"CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum","year":2019,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":69,"is_retracted":false,"has_abstract":true,"ca_institutions":"Vancouver General Hospital","funders":"Wellcome Trust; National Human Genome Research Institute; National Heart, Lung, and Blood Institute; Vlaamse regering; Fonds Wetenschappelijk Onderzoek; Deutsche Forschungsgemeinschaft; National Institute of General Medical Sciences; National Institute for Health and Care Research; National Institutes of Health; National Cancer Institute; Eesti Teadusagentuur; National Eye Institute; Wellcome","keywords":"Neurodevelopmental disorder; CTCF; Autism spectrum disorder; Genetics; Medicine; Psychiatry; Biology; Gene; Autism; Transcription factor","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":[0.000227562,0.000666272,0.0003750138,0.001246209,0.000798784,0.0003339183,0.00025059,0.0005189627,0.001843157],"category_scores_gemma":[0.001237119,0.0002279566,0.0002426359,0.0007168548,0.0004341657,0.0001622589,0.0005506505,0.0003149885,0.0002189664],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003096673,"about_ca_system_score_gemma":0.0001802331,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003580371,"about_ca_topic_score_gemma":0.00393051,"domain_scores_codex":[0.9996418,0.00003174572,0.00003786548,0.0001568311,0.00006769218,0.00006406639],"domain_scores_gemma":[0.9996938,0.000107407,0.00006644094,0.00002832262,0.00003889447,0.00006515232],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003422915,0.00009811674,0.9478384,0.00003395723,0.00007630663,0.01884149,0.001107153,0.0001607313,0.01950981,0.000158478,0.000343594,0.01148966],"study_design_scores_gemma":[0.00005250633,0.0003658623,0.9439818,0.00002995066,0.0001114049,0.0483808,0.0005732875,0.0004009694,0.004012379,0.0002041763,0.001865939,0.00002114039],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.999401,0.00007875531,0.0001587269,0.00001346616,0.00000217804,0.000009383807,0.0001529432,0.000005725723,0.000177884],"genre_scores_gemma":[0.9992688,0.00004344275,0.0002553068,0.00002213149,0.000003928581,0.000007751642,0.0002411691,0.00000406354,0.0001533002],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003580371,"threshold_uncertainty_score":0.00711906,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008351570928077739,"score_gpt":0.2694087162324771,"score_spread":0.2610571453043994,"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."}}