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The choline transporter Slc44a2 controls platelet activation and thrombosis by regulating mitochondrial function
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Bennett, J.A. (University of Rochester Medical Center) ;
Mastrangelo, M.A. (University of Rochester Medical Center) ;
Ture, S.K. (University of Rochester Medical Center) ;
Smith, C.O. (University of Rochester Medical Center) ;
Loelius, S.G. (University of Rochester Medical Center) ;
Berg, R.A. (University of Rochester Medical Center) ;
Shi, X. (Beth Israel Deaconess Medical Center) ;
Burke, R.M. (University of Rochester Medical Center) ;
Spinelli, S.L. (University of Rochester Medical Center) ;
Cameron, S.J. (University of Rochester Medical Center) ;
Carey, T.E. (University of Michigan) ;
Brookes, Paul S (University of Rochester Medical Center) ;
Gerszten, R.E. (Beth Israel Deaconess Medical Center) ;
Sabater-Lleal, Maria (Institut d'Investigació Biomèdica Sant Pau) ;
de Vries, P.S. (The University of Texas Health Science Center at Houston) ;
Huffman, Jennifer E (VA Boston Healthcare System) ;
Smith, N.L. (Seattle Epidemiologic Research and Information Center) ;
Morrell, C.N. (University of Rochester Medical Center) ;
Lowenstein, C.J. (University of Rochester Medical Center) ;
Universitat Autònoma de Barcelona
Genetic factors contribute to the risk of thrombotic diseases. Recent genome wide association studies have identified genetic loci including SLC44A2 which may regulate thrombosis. Here we show that Slc44a2 controls platelet activation and thrombosis by regulating mitochondrial energetics. [...]
2020 -  10.1038/s41467-020-17254-w
Nature communications, Vol. 11 Núm. 1 (january 2020) , p. 3479
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34 p, 16.2 MB |
Stroke genetics informs drug discovery and risk prediction across ancestries
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Mishra, Aniket (University of Bordeaux, Inserm, UMR 1219. Bordeaux Population Health Research Center) ;
Malik, Rainer (University Hospital, LMU Munich. Institute for Stroke and Dementia Research (ISD)) ;
Hachiya, Tsuyoshi (Iwate Medical University. Iwate Tohoku Medical Megabank Organization) ;
Jürgenson, Tuuli (University of Tartu. Institute of Mathematics and Statistics) ;
Namba, Shinichi (Osaka University Graduate School of Medicine. Department of Statistical Genetics) ;
Posner, Daniel C. (VA Boston Healthcare System. Massachusetts Veterans Epidemiology Research and Information Center (MAVERIC)) ;
Kamanu, Frederick K. (Harvard Medical School. Division of Cardiovascular Medicine, Brigham and Women's Hospital) ;
Koido, Masaru (The University of Tokyo. Laboratory of Complex Trait Genomics, Graduate School of Frontier Sciences) ;
Le Grand, Quentin (University of Bordeaux, Inserm, UMR 1219. Bordeaux Population Health Research Center) ;
Shi, Mingyang (The University of Tokyo. Laboratory of Complex Trait Genomics, Graduate School of Frontier Sciences) ;
He, Yunye (The University of Tokyo. Laboratory of Complex Trait Genomics, Graduate School of Frontier Sciences) ;
Georgakis, Marios K. (Broad Institute of Harvard and the Massachusetts Institute of Technology. Program in Medical and Population Genetics) ;
Caro, Ilana (University of Bordeaux, Inserm, UMR 1219. Bordeaux Population Health Research Center) ;
Krebs, Kristi (University of Tartu. Estonian Genome Centre, Institute of Genomics) ;
Liaw, Yi-Ching (Chung Shan Medical University. Department of Public Health and Institute of Public Health) ;
Vaura, Felix C. (Finnish Institute for Health and Welfare. Department of Public Health and Welfare) ;
Lin, Kuang (University of Oxford. Nuffield Department of Population Health) ;
Winsvold, Bendik Slagsvold (Oslo University Hospital (Oslo, Noruega)) ;
Srinivasasainagendra, Vinodh (University of Alabama at Birmingham. Department of Biostatistics, School of Public Health) ;
Parodi, Livia (Broad Institute of Harvard and the Massachusetts Institute of Technology. Program in Medical and Population Genetics) ;
Bae, Hee-Joon (Seoul National University Bundang Hospital, Seoul National University College of Medicine. Department of Neurology and Cerebrovascular Disease Center) ;
Chauhan, Ganesh (Rajendra Institute of Medical Sciences) ;
Chong, Michael R. (McMaster University. Department of Pathology and Molecular Medicine, Michael G. DeGroote School of Medicine) ;
Tomppo, Liisa (Helsinki University Hospital) ;
Akinyemi, Rufus (University of Ibadan. Neuroscience and Ageing Research Unit Institute for Advanced Medical Research and Training, College of Medicine) ;
Roshchupkin, Gennady V. (Erasmus MC University Medical Center Rotterdam. Department of Radiology and Nuclear Medicine) ;
Habib, Naomi (The Hebrew University of Jerusalem. The Edmond and Lily Safra Center for Brain Sciences) ;
Jee, Yon Ho (Harvard T. H. Chan School of Public Health. Department of Epidemiology) ;
Thomassen, Jesper Qvist (Copenhagen University Hospital-Rigshospitalet. Department of Clinical Biochemistry) ;
Abedi, Vida (The Pennsylvania State University. Department of Public Health Sciences, College of Medicine) ;
Cárcel-Márquez, Jara (Institut d'Investigació Biomèdica Sant Pau) ;
Nygaard, Marianne (Odense University Hospital (Dinamarca)) ;
Leonard, Hampton L. (Data Tecnica International) ;
Yang, Chaojie (University of Virginia. Department of Biochemistry and Molecular Genetics) ;
Yonova-Doing, Ekaterina (Novo Nordisk Research Centre Oxford. Department of Genetics) ;
Knol, Maria J. (Erasmus MC University Medical Center Rotterdam. Department of Epidemiology) ;
Lewis, Adam J. (Vanderbilt University Medical Center. Department of Biomedical Informatics) ;
Judy, Renae L. (University of Pennsylvania. Department of Surgery) ;
Ago, Tetsuro (Kyushu University. Department of Medicine and Clinical Science, Graduate School of Medical Sciences) ;
Amouyel, Philippe (Institut Pasteur de Lille) ;
Armstrong, Nicole D. (University of Alabama at Birmingham. Department of Epidemiology) ;
Bakker, Mark K. (University Medical Center Utrecht, University Utrecht. UMC Utrecht Brain Center, Department of Neurology and Neurosurgery) ;
Bartz, Traci M. (University of Washington. Department of Biostatistics) ;
Bennett, David A. (Rush University Medical Center. Rush Alzheimer's Disease Center) ;
Bis, Joshua C (University of Washington. Cardiovascular Health Research Unit, Department of Medicine) ;
Bordes, Constance (University of Bordeaux, Inserm, UMR 1219. Bordeaux Population Health Research Center) ;
Børte, Sigrid (Oslo University Hospital. Research and Communication Unit for Musculoskeletal Health (FORMI), Department of Research and Innovation, Division of Clinical Neuroscience) ;
Cain, Anael (The Hebrew University of Jerusalem. The Edmond and Lily Safra Center for Brain Sciences) ;
Ridker, Paul M. (Harvard Medical School) ;
Cho, Kelly (VA Boston Healthcare System. Massachusetts Veterans Epidemiology Research and Information Center (MAVERIC)) ;
Chen, Zhengming (University of Oxford. MRC Population Health Research Unit) ;
Cruchaga, Carlos (Washington University School of Medicine. NeuroGenomics and Informatics Center) ;
Cole, John W. (University of Maryland School of Medicine. Department of Neurology) ;
De Jager, Philip L (Columbia University Medical Center. Center for Translational and Computational Neuroimmunology, Department of Neurology) ;
de Cid, Rafael (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Endres, Matthias (partner site Berlin. German Centre for Cardiovascular Research (DZHK)) ;
Ferreira, Leslie E. (Post-Graduation Program on Health and Environment, Department of Medicine and Joinville Stroke Biobank, University of the Region of Joinville, Santa Catarina, Brazil) ;
Geerlings, Mirjam I. (University Medical Center Utrecht, Utrecht University. Department of Epidemiology, Julius Center for Health Sciences and Primary Care) ;
Gasca, Natalie C. (University of Washington. Department of Biostatistics) ;
Gudnason, Vilmundur (University of Iceland. Faculty of Medicine) ;
Hata, Jun (Kyushu University. Department of Epidemiology and Public Health, Graduate School of Medical Sciences) ;
He, Jing (Vanderbilt University Medical Center. Department of Biomedical Informatics) ;
Heath, Alicia K. (Imperial College London. Department of Epidemiology and Biostatistics, School of Public Health) ;
Ho, Yuk-Lam (VA Boston Healthcare System. Massachusetts Veterans Epidemiology Research and Information Center (MAVERIC)) ;
Havulinna, Aki S (FIMM-HiLIFE. Institute for Molecular Medicine Finland) ;
Hopewell, Jemma C. (University of Oxford. Clinical Trial Service and Epidemiological Studies Unit (CTSU), Nuffield Department of Population Health) ;
Hyacinth, Hyacinth I. (University of Cincinnati College of Medicine. Department of Neurology and Rehabilitation Medicine) ;
Inouye, Michael (University of Cambridge. British Heart Foundation Centre of Research Excellence) ;
Jacob, Mina A. (Radboud University Medical Center. Department of Neurology, Donders Center for Medical Neuroscience) ;
Jeon, Christina E. (Los Angeles County Department of Public Health) ;
Jern, Christina (Sahlgrenska University Hospital (Suècia)) ;
Kamouchi, Masahiro (Kyushu University. Department of Health Care Administration and Management, Graduate School of Medical Sciences) ;
Keene, Keith L. (East Carolina University. Department of Biology, Brody School of Medicine Center for Health Disparities) ;
Kitazono, Takanari (Kyushu University. Department of Medicine and Clinical Science, Graduate School of Medical Sciences) ;
Kittner, Steven J. (VA Maryland Health Care System. Department of Neurology and Geriatric Research and Education Clinical Center) ;
Konuma, Takahiro (Osaka University Graduate School of Medicine. Department of Statistical Genetics) ;
Kumar, Amit (Rajendra Institute of Medical Sciences) ;
Lacaze, Paul (Monash University. Department of Epidemiology and Preventive Medicine, School of Public Health and Preventive Medicine) ;
Launer, Lenore Joy (National Institute on Aging, NIH. Intramural Research Program) ;
Lee, Keon-Joo (Korea University Guro Hospital. Department of Neurology) ;
Lepik, Kaido (University Center for Primary Care and Public Health, Lausanne, Switzerland) ;
Li, Jiang (Geisinger Health System. Department of Molecular and Functional Genomics, Weis Center for Research) ;
Li, Liming (Peking University Health Science Center. Department of Epidemiology and Biostatistics, School of Public Health) ;
Manichaikul, Ani (University of Virginia. Center for Public Health Genomics) ;
Markus, Hugh S. (University of Cambridge. Stroke Research Group, Department of Clinical Neurosciences) ;
Marston, Nicholas A. (Harvard Medical School. Division of Cardiovascular Medicine, Brigham and Women's Hospital) ;
Meitinger, Thomas (German Research Center for Environmental Health. Institute of Human Genetics, Helmholtz Zentrum München) ;
Mitchell, Braxton D. (Baltimore Veterans Administration Medical Center. Geriatrics Research and Education Clinical Center) ;
Montellano, Felipe A. (University Hospital Würzburg. Department of Neurology) ;
Morisaki, Takayuki (The University of Tokyo. Division of Molecular Pathology, Institute of Medical Sciences) ;
Mosley, Thomas H. (University of Mississippi Medical Center. The MIND Center) ;
Nalls, Mike A. (Data Tecnica International) ;
Nordestgaard, Børge G. (University of Copenhagen. Department of Clinical Medicine) ;
O'Donnell, Martin J. (NUI Galway. College of Medicine Nursing and Health Science) ;
Okada, Yukinori (Osaka University. Center for Infectious Disease Education and Research (CiDER)) ;
Onland-Moret, N. Charlotte (University Medical Center Utrecht, Utrecht University. Department of Epidemiology, Julius Center for Health Sciences and Primary Care) ;
Ovbiagele, Bruce (University of California, San Francisco. Weill Institute for Neurosciences) ;
Peters, Annette (German Centre for Cardiovascular Research (DZHK), partner site Munich) ;
Psaty, Bruce M. (University of Washington. Department of Health Systems and Population Health) ;
Rich, Stephen S. (University of Virginia. Center for Public Health Genomics) ;
Rosand, Jonathan (Massachusetts General Hospital. McCance Center for Brain Health) ;
Sabatine, Marc S. (Harvard Medical School. Division of Cardiovascular Medicine, Brigham and Women's Hospital) ;
Sacco, Ralph L. (Evelyn F. McKnight Brain Institute) ;
Saleheen, Danish (Columbia University. Division of Cardiology, Department of Medicine) ;
Sandset, Else Charlotte (The Norwegian Air Ambulance Foundation. Research and Development) ;
Salomaa, Veikko (Finnish Institute for Health and Welfare. Department of Public Health and Welfare) ;
Sargurupremraj, Muralidharan (University of Texas Health Sciences Center. Glenn Biggs Institute for Alzheimer's and Neurodegenerative Diseases) ;
Sasaki, Makoto (Iwate Medical University. Iwate Tohoku Medical Megabank Organization) ;
Satizabal, Claudia L. (Framingham Heart Study) ;
Schmidt, Carsten O. (University Medicine Greifswald, Institute for Community Medicine, SHIP/KEF) ;
Shimizu, Atsushi (Iwate Medical University. Iwate Tohoku Medical Megabank Organization) ;
Smith, Nicholas L. (Seattle Epidemiologic Research and Information Center. Department of Veterans Affairs Office of Research and Development) ;
Sloane, Kelly L. (University of Pennsylvania. Department of Neurology) ;
Sutoh, Yoichi (Iwate Medical University. Iwate Tohoku Medical Megabank Organization) ;
Sun, Yan V. (Emory University Rollins School of Public Health. Department of Epidemiology) ;
Tanno, Kozo (Iwate Medical University. Iwate Tohoku Medical Megabank Organization) ;
Tiedt, Steffen (University Hospital, LMU Munich. Institute for Stroke and Dementia Research (ISD)) ;
Tatlisumak, Turgut (Sahlgrenska University Hospital (Suècia)) ;
Torres-Aguila, Nuria P.. (Institut d'Investigació Biomèdica Sant Pau) ;
Tiwari, Hemant K. (University of Alabama at Birmingham. Department of Biostatistics, School of Public Health) ;
Trégouët, David-Alexandre (University of Bordeaux, Inserm, UMR 1219. Bordeaux Population Health Research Center) ;
Trompet, Stella (Leiden University Medical Center. Department of Cardiology) ;
Tuladhar, Anil Man (Radboud University Medical Center. Department of Neurology, Donders Center for Medical Neuroscience) ;
Tybjærg-Hansen, Anne (University of Copenhagen. Department of Clinical Medicine) ;
van Vugt, Marion (University Medical Center Utrecht, Utrecht University. Division Heart & Lungs, Department of Cardiology) ;
Vibo, Riina (University of Tartu. Department of Neurology and Neurosurgery) ;
Verma, Shefali S. (University of Pennsylvania. Department of Pathology and Laboratory Medicine) ;
Wiggins, Kerri L. (University of Washington. Cardiovascular Health Research Unit, Department of Medicine) ;
Wennberg, Patrik (Umeå University. Department of Public Health and Clinical Medicine) ;
Woo, Daniel (University of Cincinnati College of Medicine. Department of Neurology and Rehabilitation Medicine) ;
Wilson, Peter W. F. (Emory University School of Medicine. Department of Medicine, Division of Cardiovascular Disease) ;
Xu, Huichun (University of Maryland School of Medicine. Department of Medicine) ;
Yang, Qiong (Boston University School of Public Health. Department of Biostatistics) ;
Yoon, Kyungheon (National Institute of Health. Division of Genome Science, Department of Precision Medicine) ;
Millwood, Iona Y. (University of Oxford. MRC Population Health Research Unit) ;
Gieger, Christian (German Research Center for Environmental Health. Research Unit Molecular Epidemiology, Institute of Epidemiology, Helmholtz Zentrum München) ;
Ninomiya, Toshiharu (Kyushu University. Department of Epidemiology and Public Health, Graduate School of Medical Sciences) ;
Grabe, Hans J. (German Center for Neurodegenerative Diseases (DZNE), site Rostock/Greifswald) ;
Jukema, J. Wouter (LUMC. Einthoven Laboratory for Experimental Vascular Medicine) ;
Rissanen, Ina L. (University Medical Center Utrecht, Utrecht University. Department of Epidemiology, Julius Center for Health Sciences and Primary Care) ;
Strbian, Daniel (Helsinki University Hospital) ;
Kim, Young Jin (National Institute of Health. Division of Genome Science, Department of Precision Medicine) ;
Chen, Pei-Hsin (Chung Shan Medical University. Department of Public Health and Institute of Public Health) ;
Mayerhofer, Ernst (Broad Institute of Harvard and the Massachusetts Institute of Technology. Program in Medical and Population Genetics) ;
Howson, Joanna M. M. (Novo Nordisk Research Centre Oxford. Department of Genetics) ;
Irvin, Marguerite R. (University of Alabama at Birmingham. Department of Epidemiology) ;
Adams, Hieab (Universidad Adolfo Ibáñez. Latin American Brain Health (BrainLat)) ;
Wassertheil-Smoller, Sylvia (Albert Einstein College of Medicine. Department of Epidemiology and Population Health) ;
Christensen, Kaare (Odense University Hospital (Dinamarca)) ;
Ikram, M. Arfan (Erasmus MC University Medical Center Rotterdam. Department of Epidemiology) ;
Rundek, Tatjana (Evelyn F. McKnight Brain Institute) ;
Worrall, Bradford B. (University of Virginia. Department of Public Health Science) ;
Lathrop, G. Mark (McGill Genome Centre) ;
Riaz, Moeen (Monash University. Department of Epidemiology and Preventive Medicine, School of Public Health and Preventive Medicine) ;
Simonsick, Eleanor M. (National Institute on Aging. Longitudinal Studies Section, Translational Gerontology Branch) ;
Kõrv, Janika (University of Tartu. Department of Neurology and Neurosurgery) ;
França, Paulo H. C. (Post-Graduation Program on Health and Environment, Department of Medicine and Joinville Stroke Biobank, University of the Region of Joinville, Santa Catarina, Brazil) ;
Zand, Ramin (The Pennsylvania State University. Department of Neurology, College of Medicine) ;
Prasad, Kameshwar (Rajendra Institute of Medical Sciences) ;
Frikke-Schmidt, Ruth (University of Copenhagen. Department of Clinical Medicine) ;
de Leeuw, Frank-Erik (Radboud University Medical Center. Department of Neurology, Donders Center for Medical Neuroscience) ;
Liman, Thomas (Carl von Ossietzky University of Oldenburg. Klinik für Neurologie) ;
Haeusler, Karl Georg (University Hospital Würzburg. Department of Neurology) ;
Ruigrok, Ynte M. (University Medical Center Utrecht, University Utrecht. UMC Utrecht Brain Center, Department of Neurology and Neurosurgery) ;
Heuschmann, Peter Ulrich (University Hospital Würzburg. Clinical Trial Center) ;
Longstreth, W. T. (University of Washington. Department of Neurology) ;
Jung, Keum Ji (Yonsei University. Institute for Health Promotion, Graduate School of Public Health) ;
Bastarache, Lisa (Vanderbilt University Medical Center. Department of Biomedical Informatics) ;
Paré, Guillaume (David Braley Cardiac, Vascular and Stroke Research Institute. Population Health Research Institute) ;
Damrauer, Scott M. (Corporal Michael Crescenz VA Medical Center) ;
Chasman, Daniel I. (Harvard Medical School) ;
Rotter, Jerome I. (The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center. The Institute for Translational Genomics and Population Sciences, Department of Pediatrics) ;
Anderson, Christopher D. (Brigham and Women's Hospital (Boston, Estats Units d'Amèrica)) ;
Zwart, John-Anker (University of Oslo. Institute of Clinical Medicine, Faculty of Medicine) ;
Niiranen, Teemu J. (Turku University Hospital. Division of Medicine) ;
Fornage, Myriam (University of Texas Health Science Center at Houston. Human Genetics Center, School of Public Health) ;
Liaw, Yung-Po (Chung Shan Medical University Hospital. Department of Medical Imaging) ;
Seshadri, Sudha (Boston University School of Medicine. Department of Neurology) ;
Fernandez-Cadenas, Israel (Institut d'Investigació Biomèdica Sant Pau) ;
Walters, Robin G. (University of Oxford. MRC Population Health Research Unit) ;
Ruff, Christian T. (Harvard Medical School. Division of Cardiovascular Medicine, Brigham and Women's Hospital) ;
Owolabi, Mayowa O. (University of Ibadan. Department of Medicine) ;
Huffman, Jennifer E. (VA Boston Healthcare System. Massachusetts Veterans Epidemiology Research and Information Center (MAVERIC)) ;
Milani, Lili (University of Tartu. Estonian Genome Centre, Institute of Genomics) ;
Kamatani, Yoichiro (The University of Tokyo. Laboratory of Complex Trait Genomics, Graduate School of Frontier Sciences) ;
Dichgans, Martin (German Center for Neurodegenerative Diseases (DZNE)) ;
Debette, Stéphanie (CHU de Bordeaux. Department of Neurology, Institute for Neurodegenerative Diseases) ;
Universitat Autònoma de Barcelona
Previous genome-wide association studies (GWASs) of stroke - the second leading cause of death worldwide - were conducted predominantly in populations of European ancestry ,. Here, in cross-ancestry GWAS meta-analyses of 110,182 patients who have had a stroke (five ancestries, 33% non-European) and 1,503,898 control individuals, we identify association signals for stroke and its subtypes at 89 (61 new) independent loci: 60 in primary inverse-variance-weighted analyses and 29 in secondary meta-regression and multitrait analyses. [...]
2022 - 10.1038/s41586-022-05165-3
Nature, september 2022, p. 1-15
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1 p, 647.1 KB |
Publisher Correction : Stroke genetics informs drug discovery and risk prediction across ancestries
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Mishra, Aniket (University of Bordeaux, Inserm, UMR 1219. Bordeaux Population Health Research Center) ;
Malik, Rainer (University Hospital, LMU Munich. Institute for Stroke and Dementia Research (ISD)) ;
Hachiya, Tsuyoshi (Iwate Medical University. Iwate Tohoku Medical Megabank Organization) ;
Jürgenson, Tuuli (University of Tartu. Institute of Mathematics and Statistics) ;
Namba, Shinichi (Osaka University Graduate School of Medicine. Department of Statistical Genetics) ;
Posner, Daniel C. (VA Boston Healthcare System. Massachusetts Veterans Epidemiology Research and Information Center (MAVERIC)) ;
Kamanu, Frederick K. (Harvard Medical School. Division of Cardiovascular Medicine, Brigham and Women's Hospital) ;
Koido, Masaru (The University of Tokyo. Laboratory of Complex Trait Genomics, Graduate School of Frontier Sciences) ;
Le Grand, Quentin (University of Bordeaux, Inserm, UMR 1219. Bordeaux Population Health Research Center) ;
Shi, Mingyang (The University of Tokyo. Laboratory of Complex Trait Genomics, Graduate School of Frontier Sciences) ;
He, Yunye (The University of Tokyo. Laboratory of Complex Trait Genomics, Graduate School of Frontier Sciences) ;
Georgakis, Marios K. (Broad Institute of Harvard and the Massachusetts Institute of Technology. Program in Medical and Population Genetics) ;
Caro, Ilana (University of Bordeaux, Inserm, UMR 1219. Bordeaux Population Health Research Center) ;
Krebs, Kristi (University of Tartu. Estonian Genome Centre, Institute of Genomics) ;
Liaw, Yi-Ching (Chung Shan Medical University. Department of Public Health and Institute of Public Health) ;
Vaura, Felix C. (Finnish Institute for Health and Welfare. Department of Public Health and Welfare) ;
Lin, Kuang (University of Oxford. Nuffield Department of Population Health) ;
Winsvold, Bendik Slagsvold (Oslo University Hospital (Oslo, Noruega)) ;
Srinivasasainagendra, Vinodh (University of Alabama at Birmingham. Department of Biostatistics, School of Public Health) ;
Parodi, Livia (Broad Institute of Harvard and the Massachusetts Institute of Technology. Program in Medical and Population Genetics) ;
Bae, Hee-Joon (Seoul National University Bundang Hospital, Seoul National University College of Medicine. Department of Neurology and Cerebrovascular Disease Center) ;
Chauhan, Ganesh (Rajendra Institute of Medical Sciences) ;
Chong, Michael R. (McMaster University. Department of Pathology and Molecular Medicine, Michael G. DeGroote School of Medicine) ;
Tomppo, Liisa (Helsinki University Hospital (Finlàndia)) ;
Akinyemi, Rufus (University of Ibadan. Neuroscience and Ageing Research Unit Institute for Advanced Medical Research and Training, College of Medicine) ;
Roshchupkin, Gennady V. (Erasmus MC University Medical Center Rotterdam. Department of Radiology and Nuclear Medicine) ;
Habib, Naomi (The Hebrew University of Jerusalem. The Edmond and Lily Safra Center for Brain Sciences) ;
Jee, Yon Ho (Harvard T. H. Chan School of Public Health. Department of Epidemiology) ;
Thomassen, Jesper Qvist (Copenhagen University Hospital-Rigshospitalet. Department of Clinical Biochemistry) ;
Abedi, Vida (The Pennsylvania State University. Department of Public Health Sciences, College of Medicine) ;
Cárcel-Márquez, Jara (Universitat Autònoma de Barcelona. Departament de Medicina) ;
Nygaard, Marianne (Odense University Hospital (Dinamarca)) ;
Leonard, Hampton L. (Data Tecnica International) ;
Yang, Chaojie (University of Virginia. Department of Biochemistry and Molecular Genetics) ;
Yonova-Doing, Ekaterina (Novo Nordisk Research Centre Oxford. Department of Genetics) ;
Knol, Maria J. (Erasmus MC University Medical Center Rotterdam. Department of Epidemiology) ;
Lewis, Adam J. (Vanderbilt University Medical Center. Department of Biomedical Informatics) ;
Judy, Renae L. (University of Pennsylvania. Department of Surgery) ;
Ago, Tetsuro (Kyushu University. Department of Medicine and Clinical Science, Graduate School of Medical Sciences) ;
Amouyel, Philippe (Institut Pasteur de Lille) ;
Armstrong, Nicole D. (University of Alabama at Birmingham. Department of Epidemiology) ;
Bakker, Mark K. (University Medical Center Utrecht, University Utrecht. UMC Utrecht Brain Center, Department of Neurology and Neurosurgery) ;
Bartz, Traci M. (University of Washington. Department of Biostatistics) ;
Bennett, David A. (Rush University Medical Center. Rush Alzheimer's Disease Center) ;
Bis, Joshua C. (University of Washington. Cardiovascular Health Research Unit, Department of Medicine) ;
Bordes, Constance (University of Bordeaux, Inserm, UMR 1219. Bordeaux Population Health Research Center) ;
Børte, Sigrid (Oslo University Hospital. Research and Communication Unit for Musculoskeletal Health (FORMI), Department of Research and Innovation, Division of Clinical Neuroscience) ;
Cain, Anael (The Hebrew University of Jerusalem. The Edmond and Lily Safra Center for Brain Sciences) ;
Ridker, Paul M. (Harvard Medical School) ;
Cho, Kelly (VA Boston Healthcare System. Massachusetts Veterans Epidemiology Research and Information Center (MAVERIC)) ;
Chen, Zhengming (University of Oxford. MRC Population Health Research Unit) ;
Cruchaga, Carlos (Washington University School of Medicine. NeuroGenomics and Informatics Center) ;
Cole, John W. (University of Maryland School of Medicine. Department of Neurology) ;
De Jager, Philip L (Columbia University Medical Center. Center for Translational and Computational Neuroimmunology, Department of Neurology) ;
de Cid, Rafael (Institut Germans Trias i Pujol) ;
Endres, Matthias (partner site Berlin. German Centre for Cardiovascular Research (DZHK)) ;
Ferreira, Leslie E. (Post-Graduation Program on Health and Environment, Department of Medicine and Joinville Stroke Biobank, University of the Region of Joinville, Santa Catarina, Brazil) ;
Geerlings, Mirjam I. (University Medical Center Utrecht, Utrecht University. Department of Epidemiology, Julius Center for Health Sciences and Primary Care) ;
Gasca, Natalie C. (University of Washington. Department of Biostatistics) ;
Gudnason, Vilmundur (University of Iceland. Faculty of Medicine) ;
Hata, Jun (Kyushu University. Department of Epidemiology and Public Health, Graduate School of Medical Sciences) ;
He, Jing (Vanderbilt University Medical Center. Department of Biomedical Informatics) ;
Heath, Alicia K. (Imperial College London. Department of Epidemiology and Biostatistics, School of Public Health) ;
Ho, Yuk-Lam (VA Boston Healthcare System. Massachusetts Veterans Epidemiology Research and Information Center (MAVERIC)) ;
Havulinna, Aki S. (FIMM-HiLIFE. Institute for Molecular Medicine Finland) ;
Hopewell, Jemma C. (University of Oxford. Clinical Trial Service and Epidemiological Studies Unit (CTSU), Nuffield Department of Population Health) ;
Hyacinth, Hyacinth I. (University of Cincinnati College of Medicine. Department of Neurology and Rehabilitation Medicine) ;
Inouye, Michael (University of Cambridge. British Heart Foundation Centre of Research Excellence) ;
Jacob, Mina A. (Radboud University Medical Center. Department of Neurology, Donders Center for Medical Neuroscience) ;
Jeon, Christina E. (Los Angeles County Department of Public Health) ;
Jern, Christina (Sahlgrenska University Hospital (Suècia)) ;
Kamouchi, Masahiro (Kyushu University. Department of Health Care Administration and Management, Graduate School of Medical Sciences) ;
Keene, Keith L. (East Carolina University. Department of Biology, Brody School of Medicine Center for Health Disparities) ;
Kitazono, Takanari (Kyushu University. Department of Medicine and Clinical Science, Graduate School of Medical Sciences) ;
Kittner, Steven J. (VA Maryland Health Care System. Department of Neurology and Geriatric Research and Education Clinical Center) ;
Konuma, Takahiro (Osaka University Graduate School of Medicine. Department of Statistical Genetics) ;
Kumar, Amit (Rajendra Institute of Medical Sciences) ;
Lacaze, Paul (Monash University. Department of Epidemiology and Preventive Medicine, School of Public Health and Preventive Medicine) ;
Launer, Lenore Joy (National Institute on Aging, NIH. Intramural Research Program) ;
Lee, Keon-Joo (Korea University Guro Hospital. Department of Neurology) ;
Lepik, Kaido (University Center for Primary Care and Public Health, Lausanne, Switzerland) ;
Li, Jiang (Geisinger Health System. Department of Molecular and Functional Genomics, Weis Center for Research) ;
Li, Liming (Peking University Health Science Center. Department of Epidemiology and Biostatistics, School of Public Health) ;
Manichaikul, Ani (University of Virginia. Center for Public Health Genomics) ;
Markus, Hugh S. (University of Cambridge. Stroke Research Group, Department of Clinical Neurosciences) ;
Marston, Nicholas A. (Harvard Medical School. Division of Cardiovascular Medicine, Brigham and Women's Hospital) ;
Meitinger, Thomas (German Research Center for Environmental Health. Institute of Human Genetics, Helmholtz Zentrum München) ;
Mitchell, Braxton D. (Baltimore Veterans Administration Medical Center. Geriatrics Research and Education Clinical Center) ;
Montellano, Felipe A. (University Hospital Würzburg. Department of Neurology) ;
Morisaki, Takayuki (The University of Tokyo. Division of Molecular Pathology, Institute of Medical Sciences) ;
Mosley, Thomas H. (University of Mississippi Medical Center. The MIND Center) ;
Nalls, Mike A. (Data Tecnica International) ;
Nordestgaard, Børge G. (University of Copenhagen. Department of Clinical Medicine) ;
O'Donnell, Martin J. (NUI Galway. College of Medicine Nursing and Health Science) ;
Okada, Yukinori (Osaka University. Center for Infectious Disease Education and Research (CiDER)) ;
Onland-Moret, N. Charlotte (University Medical Center Utrecht, Utrecht University. Department of Epidemiology, Julius Center for Health Sciences and Primary Care) ;
Ovbiagele, Bruce (University of California, San Francisco. Weill Institute for Neurosciences) ;
Peters, Annette (German Centre for Cardiovascular Research (DZHK), partner site Munich) ;
Psaty, Bruce M. (University of Washington. Department of Health Systems and Population Health) ;
Rich, Stephen S. (University of Virginia. Center for Public Health Genomics) ;
Rosand, Jonathan (Massachusetts General Hospital. McCance Center for Brain Health) ;
Sabatine, Marc S. (Harvard Medical School. Division of Cardiovascular Medicine, Brigham and Women's Hospital) ;
Sacco, Ralph L. (Evelyn F. McKnight Brain Institute) ;
Saleheen, Danish (Columbia University. Division of Cardiology, Department of Medicine) ;
Sandset, Else Charlotte (The Norwegian Air Ambulance Foundation. Research and Development) ;
Salomaa, Veikko (Finnish Institute for Health and Welfare. Department of Public Health and Welfare) ;
Sargurupremraj, Muralidharan (University of Texas Health Sciences Center. Glenn Biggs Institute for Alzheimer's and Neurodegenerative Diseases) ;
Sasaki, Makoto (Iwate Medical University. Iwate Tohoku Medical Megabank Organization) ;
Satizabal, Claudia L. (Framingham Heart Study) ;
Schmidt, Carsten O. (University Medicine Greifswald, Institute for Community Medicine, SHIP/KEF) ;
Shimizu, Atsushi (Iwate Medical University. Iwate Tohoku Medical Megabank Organization) ;
Smith, Nicholas L. (Seattle Epidemiologic Research and Information Center. Department of Veterans Affairs Office of Research and Development) ;
Sloane, Kelly L. (University of Pennsylvania. Department of Neurology) ;
Sutoh, Yoichi (Iwate Medical University. Iwate Tohoku Medical Megabank Organization) ;
Sun, Yan V. (Emory University Rollins School of Public Health. Department of Epidemiology) ;
Tanno, Kozo (Iwate Medical University. Iwate Tohoku Medical Megabank Organization) ;
Tiedt, Steffen (University Hospital, LMU Munich. Institute for Stroke and Dementia Research (ISD)) ;
Tatlisumak, Turgut (Sahlgrenska University Hospital (Suècia)) ;
Torres-Aguila, Nuria P.. (Institut d'Investigació Biomèdica Sant Pau) ;
Tiwari, Hemant K. (University of Alabama at Birmingham. Department of Biostatistics, School of Public Health) ;
Trégouët, David-Alexandre (University of Bordeaux, Inserm, UMR 1219. Bordeaux Population Health Research Center) ;
Trompet, Stella (Leiden University Medical Center. Department of Cardiology) ;
Tuladhar, Anil Man (Radboud University Medical Center. Department of Neurology, Donders Center for Medical Neuroscience) ;
Tybjærg-Hansen, Anne (University of Copenhagen. Department of Clinical Medicine) ;
van Vugt, Marion (University Medical Center Utrecht, Utrecht University. Division Heart & Lungs, Department of Cardiology) ;
Vibo, Riina (University of Tartu. Department of Neurology and Neurosurgery) ;
Verma, Shefali S. (University of Pennsylvania. Department of Pathology and Laboratory Medicine) ;
Wiggins, Kerri L. (University of Washington. Cardiovascular Health Research Unit, Department of Medicine) ;
Wennberg, Patrik (Umeå University. Department of Public Health and Clinical Medicine) ;
Woo, Daniel (University of Cincinnati College of Medicine. Department of Neurology and Rehabilitation Medicine) ;
Wilson, Peter W. F. (Emory University School of Medicine. Department of Medicine, Division of Cardiovascular Disease) ;
Xu, Huichun (University of Maryland School of Medicine. Department of Medicine) ;
Yang, Qiong (Boston University School of Public Health. Department of Biostatistics) ;
Yoon, Kyungheon (National Institute of Health. Division of Genome Science, Department of Precision Medicine) ;
Millwood, Iona Y. (University of Oxford. MRC Population Health Research Unit) ;
Gieger, Christian (German Research Center for Environmental Health. Research Unit Molecular Epidemiology, Institute of Epidemiology, Helmholtz Zentrum München) ;
Ninomiya, Toshiharu (Kyushu University. Department of Epidemiology and Public Health, Graduate School of Medical Sciences) ;
Grabe, Hans J. (German Center for Neurodegenerative Diseases (DZNE), site Rostock/Greifswald) ;
Jukema, J. Wouter (LUMC. Einthoven Laboratory for Experimental Vascular Medicine) ;
Rissanen, Ina L. (University Medical Center Utrecht, Utrecht University. Department of Epidemiology, Julius Center for Health Sciences and Primary Care) ;
Strbian, Daniel (Helsinki University Hospital (Finlàndia)) ;
Kim, Young Jin (National Institute of Health. Division of Genome Science, Department of Precision Medicine) ;
Chen, Pei-Hsin (Chung Shan Medical University. Department of Public Health and Institute of Public Health) ;
Mayerhofer, Ernst (Broad Institute of Harvard and the Massachusetts Institute of Technology. Program in Medical and Population Genetics) ;
Howson, Joanna M. M. (Novo Nordisk Research Centre Oxford. Department of Genetics) ;
Irvin, Marguerite R. (University of Alabama at Birmingham. Department of Epidemiology) ;
Adams, Hieab (Universidad Adolfo Ibáñez) ;
Wassertheil-Smoller, Sylvia (Albert Einstein College of Medicine. Department of Epidemiology and Population Health) ;
Christensen, Kaare (Odense University Hospital (Dinamarca)) ;
Ikram, M. Arfan (Erasmus MC University Medical Center Rotterdam. Department of Epidemiology) ;
Rundek, Tatjana (Evelyn F. McKnight Brain Institute) ;
Worrall, Bradford B. (University of Virginia. Department of Public Health Science) ;
Lathrop, G. Mark (McGill Genome Centre) ;
Riaz, Moeen (Monash University. Department of Epidemiology and Preventive Medicine, School of Public Health and Preventive Medicine) ;
Simonsick, Eleanor M. (National Institute on Aging. Longitudinal Studies Section, Translational Gerontology Branch) ;
Kõrv, Janika (University of Tartu. Department of Neurology and Neurosurgery) ;
França, Paulo H. C. (Post-Graduation Program on Health and Environment, Department of Medicine and Joinville Stroke Biobank, University of the Region of Joinville, Santa Catarina, Brazil) ;
Zand, Ramin (The Pennsylvania State University. Department of Neurology, College of Medicine) ;
Prasad, Kameshwar (Rajendra Institute of Medical Sciences) ;
Frikke-Schmidt, Ruth (University of Copenhagen. Department of Clinical Medicine) ;
de Leeuw, Frank-Erik (Radboud University Medical Center. Department of Neurology, Donders Center for Medical Neuroscience) ;
Liman, Thomas (Carl von Ossietzky University of Oldenburg. Klinik für Neurologie) ;
Haeusler, Karl Georg (University Hospital Würzburg. Department of Neurology) ;
Ruigrok, Ynte M. (University Medical Center Utrecht, University Utrecht. UMC Utrecht Brain Center, Department of Neurology and Neurosurgery) ;
Heuschmann, Peter Ulrich (University Hospital Würzburg. Clinical Trial Center) ;
Longstreth, W. T. (University of Washington. Department of Neurology) ;
Jung, Keum Ji (Yonsei University. Institute for Health Promotion, Graduate School of Public Health) ;
Bastarache, Lisa (Vanderbilt University Medical Center. Department of Biomedical Informatics) ;
Paré, Guillaume (David Braley Cardiac, Vascular and Stroke Research Institute. Population Health Research Institute) ;
Damrauer, Scott M. (Corporal Michael Crescenz VA Medical Center) ;
Chasman, Daniel I. (Harvard Medical School) ;
Rotter, Jerome I. (The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center. The Institute for Translational Genomics and Population Sciences, Department of Pediatrics) ;
Anderson, Christopher D. (Brigham and Women's Hospital (Boston, Estats Units d'Amèrica)) ;
Zwart, John-Anker (University of Oslo. Institute of Clinical Medicine, Faculty of Medicine) ;
Niiranen, Teemu J. (Turku University Hospital. Division of Medicine) ;
Fornage, Myriam (University of Texas Health Science Center at Houston. Human Genetics Center, School of Public Health) ;
Liaw, Yung-Po (Chung Shan Medical University Hospital. Department of Medical Imaging) ;
Seshadri, Sudha (Boston University School of Medicine. Department of Neurology) ;
Fernandez-Cadenas, Israel (Institut d'Investigació Biomèdica Sant Pau) ;
Walters, Robin G. (University of Oxford. MRC Population Health Research Unit) ;
Ruff, Christian T. (Harvard Medical School. Division of Cardiovascular Medicine, Brigham and Women's Hospital) ;
Owolabi, Mayowa O. (University of Ibadan. Department of Medicine) ;
Huffman, Jennifer E. (VA Boston Healthcare System. Massachusetts Veterans Epidemiology Research and Information Center (MAVERIC)) ;
Milani, Lili (University of Tartu. Estonian Genome Centre, Institute of Genomics) ;
Kamatani, Yoichiro (The University of Tokyo. Laboratory of Complex Trait Genomics, Graduate School of Frontier Sciences) ;
Dichgans, Martin (German Center for Neurodegenerative Diseases (DZNE)) ;
Debette, Stéphanie (CHU de Bordeaux. Department of Neurology, Institute for Neurodegenerative Disease) ;
Universitat Autònoma de Barcelona
2022 - 10.1038/s41586-022-05492-5
Nature, Vol. 612 (november 2022) , p. E7
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Rare coding variants and X-linked loci associated with age at menarche
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Lunetta, Kathryn L. (Boston University School of Public Health (Estats Units d'Amèrica)) ;
Day, Felix R. (University of Cambridge. School of Clinical Medicine (Gran Bretanya)) ;
Sulem, Patrick (deCODE Genetics (Reykjavík, Islàndia)) ;
Ruth, Katherine S. (University of Exeter. Medical School (Gran Bretanya)) ;
Tung, Joyce Y. (23andMe (California, Estats Units d'Amèrica)) ;
Hinds, David A. (23andMe (California, Estats Units d'Amèrica)) ;
Esko, Tõnu (University of Tartu. Estonian Genome Center (Estònia)) ;
Elks, Cathy E. (University of Cambridge. School of Clinical Medicine (Gran Bretanya)) ;
Altmaier, Elisabeth (Helmholtz Zentrum München (Alemanya)) ;
He, Chunyan (Fairbanks School of Public Health (Indianapolis, Estats Units d'Amèrica)) ;
Huffman, Jennifer E. (University of Edinburgh. Institute of Genetics and Molecular Medicine (Gran Bretanya)) ;
Mihailov, Evelin (University of Tartu. Estonian Genome Center (Estònia)) ;
Porcu, Eleonora (Institute of Genetics and Biomedical Research (Sardinia, Itàlia)) ;
Robino, Antonietta (Institute for Maternal and Child Health (Trieste, Itàlia)) ;
Rose, Lynda M. (Brigham and Women's Hospital (Boston, Estats Units d'Amèrica)) ;
Schick, Ursula M. (Fred Hutchinson Cancer Research Center (Seattle, Estats Units d'Amèrica)) ;
Stolk, Lisette (Erasmus University Rotterdam) ;
Teumer, Alexander (University Medicine Greifswald (Alemanya)) ;
Thompson, Deborah J. (University of Cambridge. Centre for Cancer Genetic Epidemiology) ;
Traglia, Michela (San Raffaele Scientific Institute (Milà, Itàlia)) ;
Wang, Carol A. (University of Western Australia. School of Women's and Infants' Health (Crawley, Austràlia)) ;
Yerges-Armstrong, Laura M. (University of Maryland School of Medicine (Estats Units d'Amèrica)) ;
Antoniou, Antonis C. (University of Cambridge. Centre for Cancer Genetic Epidemiology) ;
Barbieri, Caterina (San Raffaele Scientific Institute (Milà, Itàlia)) ;
Coviello, Andrea D. (Boston University School of Medicine (Estats Units d'Amèrica)) ;
Cucca, Francesco (Institute of Genetics and Biomedical Research (Sardinia, Itàlia)) ;
Demerath, Ellen W. (University of Minnesota (Minneapolis, Estats Units d'Amèrica)) ;
Dunning, Alison M. (University of Cambridge. Centre for Cancer Genetic Epidemiology) ;
Gandin, Ilaria (Institute for Maternal and Child Health (Trieste, Itàlia)) ;
Grove, Megan L. (University of Texas Health Science Center at Houston (Estats Units d'Amèrica)) ;
Gudbjartsson, Daniel F. (deCODE Genetics (Reykjavík, Islàndia)) ;
Hocking, Lynne J. (University of Aberdeen (Regne Unit)) ;
Hofman, Albert (Erasmus MC (Rotterdam, Paisos Baixos)) ;
Huang, Jinyan (Shanghai Jiao Tong University School of Medicine) ;
Jackson, Rebecca D. (The Ohio State University (Estats Units d'Amèrica)) ;
Karasik, David (Harvard Medical School (Boston, Estats Units d'Amèrica)) ;
Kriebel, Jennifer (Helmholtz Zentrum München (Alemanya)) ;
Lange, Ethan M. (University of North Carolina. Department of Genetics (Estats Units d'Amèrica)) ;
Lange, Leslie A. (University of North Carolina. Department of Genetics (Estats Units d'Amèrica)) ;
Langenberg, Claudia (University of Cambridge. School of Clinical Medicine (Gran Bretanya)) ;
Li, Xin (Harvard T.H. Chan School of Public Health (Boston, Estats Units d'Amèrica)) ;
Luan, Jian'an (University of Cambridge. School of Clinical Medicine (Gran Bretanya)) ;
Mägi, Reedik (University of Tartu. Estonian Genome Center (Estònia)) ;
Morrison, Alanna C. (University of Texas Health Science Center at Houston (Estats Units d'Amèrica)) ;
Padmanabhan, Sandosh (University of Glasgow. Institute of Cardiovascular and Medical Sciences (Gran Bretanya)) ;
Pirie, Ailith (University of Cambridge. Centre for Cancer Genetic Epidemiology) ;
Polasek, Ozren (University of Split. School of Medicine (Croàcia)) ;
Porteous, David (University of Edinburgh.Institute of Genetics and Molecular Medicine (Gran Bretanya)) ;
Reiner, Alex P. (Fred Hutchinson Cancer Research Center (Seattle, Estats Units d'Amèrica)) ;
Rivadeneira, Fernando (Erasmus University Rotterdam) ;
Rudan, Igor (University of Edinburgh. Institute for Population Health Sciences and Informatics (Gran Bretanya)) ;
Sala, Cinzia F. (San Raffaele Scientific Institute (Milà, Itàlia)) ;
Schlessinger, David (National Institute on Aging (Baltimore, Estats Units d'Amèrica)) ;
Scott, Robert A. (University of Cambridge. School of Clinical Medicine (Gran Bretanya)) ;
Stöckl, Doris (German Research Center for Environmental Health (Germany)) ;
Visser, J. (Erasmus University Rotterdam) ;
Völker, Uwe (Greifswald Medical School (Alemanya)) ;
Vozzi, Diego (Institute for Maternal and Child Health (Trieste, Itàlia)) ;
Wilson, James G. (University of Mississippi. Department of Physiology and Biophysics (Estats Units d'Amèrica)) ;
Zygmunt, Marek (Greifswald Medical School (Alemanya)) ;
Boerwinkle, Eric (University of Texas Health Science Center at Houston (Estats Units d'Amèrica)) ;
Buring, Julie (Brigham and Women's Hospital (Boston, Estats Units d'Amèrica)) ;
Crisponi, Laura (Institute of Genetics and Biomedical Research (Sardinia, Itàlia)) ;
Easton, Douglas F. (University of Cambridge. Centre for Cancer Genetic Epidemiology) ;
Hayward, Caroline (University of Edinburgh. Institute of Genetics and Molecular Medicine (Gran Bretanya)) ;
Hu, Frank B. (Harvard Medical School (Boston, Estats Units d'Amèrica)) ;
Liu, Simin (Brown University. Departments of Epidemiology and Medicine (Providence, Estats Units d'Amèrica)) ;
Metspalu, Andres (University of Tartu. Estonian Genome Center (Estònia)) ;
Pennell, Craig E. (University of Western Australia. School of Women's and Infants' Health (Crawley, Austràlia)) ;
Ridker, Paul M. (Brigham and Women's Hospital (Boston, Estats Units d'Amèrica)) ;
Strauch, Konstantin (German Research Center for Environmental Health (Germany)) ;
Streeten, Elizabeth A. (University of Maryland School of Medicine (Estats Units d'Amèrica)) ;
Toniolo, Daniela (San Raffaele Scientific Institute (Milà, Itàlia)) ;
Uitterlinden, André G. (Erasmus University Rotterdam) ;
Ulivi, Sheila (Institute for Maternal and Child Health (Trieste, Itàlia)) ;
Völzke, Henry (University Medicine Greifswald (Alemanya)) ;
Wareham, Nicholas J. (University of Cambridge. School of Clinical Medicine (Gran Bretanya)) ;
Wellons, Melissa (Vanderbilt University Medical Center (Nashville, Estats Units d'Amèrica)) ;
Franceschini, Nora (University of North Carolina (Estats Units d'Amèrica). Department of Epidemiology) ;
Chasman, Daniel I. (Brigham and Women's Hospital (Boston, Estats Units d'Amèrica)) ;
Thorsteinsdottir, Unnur (deCODE Genetics (Reykjavík, Islàndia)) ;
Murray, Anna (University of Exeter. Medical School (Gran Bretanya)) ;
Stefánsson, Kári (deCODE Genetics (Reykjavík, Islàndia)) ;
Murabito, Joanne M. (National Heart, Lung, and Blood Institute (Framingham, Estats Units d'Amèrica)) ;
Ong, Ken K. (University of Cambridge. School of Clinical Medicine (Gran Bretanya)) ;
Perry, John R. B. (University of Cambridge. School of Clinical Medicine (Gran Bretanya))
More than 100 loci have been identified for age at menarche by genome-wide association studies; however, collectively these explain only ∼3% of the trait variance. Here we test two overlooked sources of variation in 192,974 European ancestry women: low-frequency protein-coding variants and X-chromosome variants. [...]
2015 - 10.1038/ncomms8756
Nature communications, Vol. 4 Núm. 6 (august 2015)
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