{"id":"W4317870343","doi":"10.1002/mds.29288","title":"Embracing Monogenic Parkinson's Disease: The <scp>MJFF</scp> Global Genetic <scp>PD</scp> Cohort","year":2023,"lang":"en","type":"article","venue":"Movement Disorders","topic":"Parkinson's Disease Mechanisms and Treatments","field":"Medicine","cited_by":49,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Alberta; Toronto Western Hospital; University of Toronto; Pacific Centre for Reproductive Medicine","funders":"National Institute of Neurological Disorders and Stroke; Faculty of Medicine and Health, University of Sydney; Department of Medicine, University of Toronto; Instituto de Salud Carlos III; Irving Medical Center, Columbia University; National Institutes of Health; Fleni; Szegedi Tudományegyetem; Parkinson Vereniging; Turun Yliopistollinen Keskussairaala; Uniwersytet Medyczny im. Karola Marcinkowskiego w Poznaniu; Sorbonne Université; Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi; Universiteit Antwerpen; Universidade do Porto; Chang Gung Memorial Hospital, Linkou; Universidade de Lisboa; National Taiwan University Hospital; Turun Yliopisto; Medical Research Council; Sociedade Beneficente Israelita Brasileira Albert Einstein; Zhejiang University; European Regional Development Fund; Universitat de Barcelona; Centre National de la Recherche Scientifique; Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas; Universitetet i Oslo; Universität zu Lübeck; National and Kapodistrian University of Athens; Mahidol University; University of Alberta; University of Toronto; Sagol School of Neuroscience, Tel Aviv University; Hebrew University of Jerusalem; Università degli Studi di Milano-Bicocca; Erasmus Universiteit Rotterdam; Ministry of Science and Technology, Taiwan; Consejo Nacional de Investigaciones Científicas y Técnicas; Karolinska Institutet; Chang Gung University; Banaras Hindu University; Japan Society for the Promotion of Science; King Faisal Specialist Hospital and Research Centre; University of Ulsan; National Science Council; National Taiwan University; Griffith University; Assistance Publique - Hôpitaux de Paris; Institut National de la Santé et de la Recherche Médicale; Agence Nationale de la Recherche; National Health and Medical Research Council; Universiti Malaya; Sydney Medical School; H. Lundbeck A/S; Department of Science and Technology, Ministry of Science and Technology, India; Università degli Studi di Pavia; NorthShore University HealthSystem; Department of Health and Social Care; Chang Gung Medical Foundation; National Research Foundation; National Institute for Health and Care Research; National Taiwan Normal University; European Commission; University of Tokyo; Radboud Universiteit; North-West University; University of Dundee; Parkinson's Disease Foundation; University College Dublin; National Medical Research Council; Hadassah Medical Organization; University College London; GlaxoSmithKline; Universidad de Sevilla; Universitätsmedizin Göttingen; NIHR Cambridge Biomedical Research Centre; International Business Machines Corporation; Michael J. Fox Foundation for Parkinson's Research; Parkinson's Foundation; EU Joint Programme – Neurodegenerative Disease Research; Université du Luxembourg; Japan Agency for Medical Research and Development; NHS Education for Scotland; Universiteit Stellenbosch; Parkinsonfonden; Singapore General Hospital","keywords":"Parkinson's disease; Cohort; Disease; Medicine; Neuroscience; Genetics; Psychology; Biology; Internal medicine","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":["metaepi_narrow","insufficient_payload"],"consensus_categories":[],"category_scores_codex":[0.0003179208,0.0006193325,0.0005203992,0.0001733454,0.0005352986,0.0001329265,0.0004125002,0.0001355389,0.0000672012],"category_scores_gemma":[0.0003023536,0.0004868254,0.000497058,0.001035426,0.0001427776,0.000131155,0.0002782604,0.0002193924,0.0007952317],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003880688,"about_ca_system_score_gemma":0.00027094,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002879133,"about_ca_topic_score_gemma":0.000149212,"domain_scores_codex":[0.9959491,0.0001317449,0.0005064241,0.001022471,0.001147151,0.001243139],"domain_scores_gemma":[0.997667,0.0002140284,0.0002070049,0.001062886,0.00007753804,0.0007715724],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00004271936,0.0009353599,0.9182576,0.0001775076,0.001527953,0.0004144913,0.0003198866,0.0007148827,0.0003058899,0.001034444,0.06553134,0.01073794],"study_design_scores_gemma":[0.002350577,0.0001862701,0.8570038,0.00007838567,0.0008725266,0.000001754502,0.001061967,0.002073125,0.0001787932,0.02845563,0.1076439,0.00009329377],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9787453,0.004892627,0.0004249971,0.001152489,0.0007442634,0.002172037,0.0002914062,0.0005601657,0.01101676],"genre_scores_gemma":[0.9861066,0.00196711,0.000153825,0.004893477,0.0002402845,0.0008632159,0.0003741779,0.0001121266,0.005289227],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.06125379,"threshold_uncertainty_score":0.9999828,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01108876072922212,"score_gpt":0.2498553826713558,"score_spread":0.2387666219421337,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). 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