{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001156545,0.0004774789,0.0003095955,0.0008320109,0.0001995036,0.0003479289,0.0002112253,0.0005021072,0.00449245],"category_scores_gemma":[0.0004329029,0.0001865665,0.0001664052,0.0004609516,0.0003936722,0.0001391389,0.0004253861,0.0007340438,0.0003697651],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001318507,"about_ca_system_score_gemma":0.00009311361,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003698411,"about_ca_topic_score_gemma":0.0006458638,"domain_scores_codex":[0.9998384,0.00002598917,0.00001199036,0.00004424434,0.00005490136,0.00002435457],"domain_scores_gemma":[0.9997559,0.00004489934,0.0001033005,0.00002804284,0.00001326863,0.0000545667],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.00122143,0.00004398385,0.02430111,0.00005198895,0.0000604597,0.004374389,0.0001094194,0.0002571853,0.9587656,0.001142629,0.0005253428,0.009146589],"study_design_scores_gemma":[0.0001604627,0.0003729776,0.7322406,0.00003601158,0.0001282457,0.04982671,0.0002874769,0.001114963,0.2071022,0.003228539,0.005456711,0.00004499855],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9940302,0.0003942244,0.002208764,0.0002500345,0.00004809814,0.000009389355,0.0006218983,0.00008266396,0.002354666],"genre_scores_gemma":[0.9958684,0.0002669503,0.00162592,0.00008081417,0.00002226588,0.00001430322,0.0003632988,0.00003228403,0.001725653],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00449245,"threshold_uncertainty_score":0.01502877,"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."}}