{"id":"W2025159391","doi":"10.1038/nature10406","title":"Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus","year":2011,"lang":"en","type":"article","venue":"Nature","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":480,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Toronto; SickKids Foundation; University of British Columbia; Hospital for Sick Children; Child and Family Research Institute; Memorial University of Newfoundland","funders":"National Institute of General Medical Sciences; National Institute of Mental Health; National Heart, Lung, and Blood Institute; Instituto de Salud Carlos III; Canadian Institutes of Health Research; National Institutes of Health; Medical Research Council; Hersenstichting; Hospital for Sick Children; Oesterreichische Nationalbank; Université de Lausanne; Fudan University; University of Toronto; Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung; European Commission; Imperial College Healthcare NHS Trust; Wellcome Trust; Michael Smith Health Research BC; Ludwig Institute for Cancer Research; National Science Foundation; GlaxoSmithKline; Imperial College London; Centro de Investigación Biomédica en Red-Fisiopatología de la Obesidad y Nutrición; Bundesministerium für Bildung und Forschung; National Institute for Health and Care Research; Fondation Leenaards; Fondation Jérôme Lejeune; Direction de l’hospitalisation et de l’offre de Soins; Genome Canada; Münchner Zentrum für Gesundheitswissenschaften; Vlaamse regering; Fonds De La Recherche Scientifique - FNRS; Autism Speaks","keywords":"Underweight; Failure to thrive; Body mass index; Obesity; Medicine; Population; Intellectual disability; Gene duplication; Eating disorders; Locus (genetics); Genetics; Anorexia nervosa; Pediatrics; Internal medicine; Biology; Psychiatry; Gene; Overweight","routes":{"ca_aff":true,"ca_fund":true,"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":[],"consensus_categories":[],"category_scores_codex":[0.0001144224,0.0001710413,0.0001195211,0.0000181442,0.000201864,0.00001987639,0.0002510651,0.0006524887,0.0004274015],"category_scores_gemma":[0.00003705875,0.0001075458,0.00007126655,0.00009271361,0.00008708597,0.00000471709,0.0001159904,0.0003989413,0.00003507617],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003497375,"about_ca_system_score_gemma":0.00006070419,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00006486923,"about_ca_topic_score_gemma":0.0007250743,"domain_scores_codex":[0.999147,0.00005385512,0.0001297056,0.0002703914,0.0001443785,0.0002546647],"domain_scores_gemma":[0.9993619,0.00001055099,0.00009717691,0.0003760499,0.0001009486,0.00005333283],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0003644175,0.0002698615,0.01976343,0.00002245947,0.0006327953,0.00004416462,0.001249485,0.00001356455,0.9661447,0.0009391516,0.01014423,0.0004116962],"study_design_scores_gemma":[0.001578006,0.0005703297,0.118309,0.00003255783,0.0001684143,0.00008632096,0.0003720718,0.00001767396,0.8035184,0.0003005382,0.07436243,0.0006842085],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9918718,0.002228321,0.00001674789,0.000234567,0.0001556744,0.0001556128,0.0001455249,0.00002295002,0.005168752],"genre_scores_gemma":[0.9904967,0.00005101634,0.000268227,0.0006038939,0.0001083879,0.00002203652,0.0003143382,0.00002638216,0.008109003],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1626263,"threshold_uncertainty_score":0.503259,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01476326131250734,"score_gpt":0.2034396696025295,"score_spread":0.1886764082900221,"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."}}