المؤلفون: Iwaki, Hirotaka, Blauwendraat, Cornelis, Leonard, Hampton, L, Liu, Ganqiang, Maple-Grødem, Jodi, Corvol, Jean-Christophe, Pihlstrøm, Lasse, van Nimwegen, Marlies, Hutten, Samantha, J, Nguyen, Khanh-Dung H, Rick, Jacqueline, Eberly, Shirley, Faghri, Faraz, Auinger, Peggy, Scott, Kirsten, M, Wijeyekoon, Ruwani, van Deerlin, Vivianna, M, Hernandez, Dena, G, Day-Williams, Aaron, G, Brice, Alexis, Alves, Guido, Noyce, Alastair, J, Tysnes, Ole-Bjørn, Evans, Jonathan, R, Breen, David, P, Estrada, Karol, Wegel, Claire, E, Danjou, Fabrice, Simon, David, K, Ravina, Bernard, Toft, Mathias, Heutink, Peter, Bloem, Bastiaan, R, Weintraub, Daniel, Barker, Roger, A, Williams-Gray, Caroline, H, van de Warrenburg, Bart, P, van Hilten, Jacobus, J, Scherzer, Clemens, R, Singleton, Andrew, B, Nalls, Mike, A

المساهمون: National Institutes of Health Bethesda, MD, USA (NIH), Harvard Medical School Boston (HMS), Stavanger University Hospital, Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Oslo University Hospital Oslo, Radboud University Medical Center Nijmegen, The Michael J Fox Foundation for Parkinson's Research, University of Pennsylvania, University of Rochester USA, University of Cambridge UK (CAM), Queen Mary University of London (QMUL), University of Bergen (UiB), Nottingham University Hospitals NHS Trust (NUH), University of Edinburgh (Edin.), Beth Israel Deaconess Medical Center Boston (BIDMC), Leiden University Medical Center (LUMC), Universiteit Leiden = Leiden University

المصدر: EISSN: 2376-7839 ; Neurology Genetics ; https://hal.sorbonne-universite.fr/hal-04513221Test ; Neurology Genetics, 2024, 5, ⟨10.1212/nxg.0000000000000348⟩

مصطلحات موضوعية: [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31404238; hal-04513221; https://hal.sorbonne-universite.fr/hal-04513221Test; https://hal.sorbonne-universite.fr/hal-04513221/documentTest; https://hal.sorbonne-universite.fr/hal-04513221/file/NXG.0000000000000348.pdfTest; PUBMED: 31404238; PUBMEDCENTRAL: PMC6659137

الإتاحة: https://doi.org/10.1212/nxg.0000000000000348Test
https://hal.sorbonne-universite.fr/hal-04513221Test
https://hal.sorbonne-universite.fr/hal-04513221/documentTest
https://hal.sorbonne-universite.fr/hal-04513221/file/NXG.0000000000000348.pdfTest

المؤلفون: Estrada, Karol, Whelan, Christopher W, Zhao, Fengmei, Bronson, Paola, Handsaker, Robert E, Sun, Chao, Carulli, John P, Harris, Tim, Ransohoff, Richard M, McCarroll, Steven A, Day-Williams, Aaron G, Greenberg, Benjamin M, MacArthur, Daniel G

المصدر: Nature communications. 9(1)

مصطلحات موضوعية: Humans, Neuromyelitis Optica, Genetic Predisposition to Disease, Immunoglobulin G, Risk Factors, Major Histocompatibility Complex, Haplotypes, Polymorphism, Single Nucleotide, Adult, Middle Aged, Female, Male, Aquaporin 4, DNA Copy Number Variations, Whole Genome Sequencing, Polymorphism, Single Nucleotide

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/13w085xmTest

المؤلفون: Flannick, Jason, Fuchsberger, Christian, Mahajan, Anubha, Teslovich, Tanya M, Agarwala, Vineeta, Gaulton, Kyle J, Caulkins, Lizz, Koesterer, Ryan, Ma, Clement, Moutsianas, Loukas, McCarthy, Davis J, Rivas, Manuel A, Perry, John RB, Sim, Xueling, Blackwell, Thomas W, Robertson, Neil R, Rayner, N William, Cingolani, Pablo, Locke, Adam E, Tajes, Juan Fernandez, Highland, Heather M, Dupuis, Josee, Chines, Peter S, Lindgren, Cecilia M, Hartl, Christopher, Jackson, Anne U, Chen, Han, Huyghe, Jeroen R, van de Bunt, Martijn, Pearson, Richard D, Kumar, Ashish, Müller-Nurasyid, Martina, Grarup, Niels, Stringham, Heather M, Gamazon, Eric R, Lee, Jaehoon, Chen, Yuhui, Scott, Robert A, Below, Jennifer E, Chen, Peng, Huang, Jinyan, Go, Min Jin, Stitzel, Michael L, Pasko, Dorota, Parker, Stephen CJ, Varga, Tibor V, Green, Todd, Beer, Nicola L, Day-Williams, Aaron G, Ferreira, Teresa, Fingerlin, Tasha, Horikoshi, Momoko, Hu, Cheng, Huh, Iksoo, Ikram, Mohammad Kamran, Kim, Bong-Jo, Kim, Yongkang, Kim, Young Jin, Kwon, Min-Seok, Lee, Juyoung, Lee, Selyeong, Lin, Keng-Han, Maxwell, Taylor J, Nagai, Yoshihiko, Wang, Xu, Welch, Ryan P, Yoon, Joon, Zhang, Weihua, Barzilai, Nir, Voight, Benjamin F, Han, Bok-Ghee, Jenkinson, Christopher P, Kuulasmaa, Teemu, Kuusisto, Johanna, Manning, Alisa, Ng, Maggie CY, Palmer, Nicholette D, Balkau, Beverley, Stančáková, Alena, Abboud, Hanna E, Boeing, Heiner, Giedraitis, Vilmantas, Prabhakaran, Dorairaj, Gottesman, Omri, Scott, James, Carey, Jason, Kwan, Phoenix, Grant, George, Smith, Joshua D, Neale, Benjamin M, Purcell, Shaun, Butterworth, Adam S, Howson, Joanna MM, Lee, Heung Man, Lu, Yingchang, Kwak, Soo-Heon, Zhao, Wei, Danesh, John, Lam, Vincent KL

المصدر: Scientific data. 5(1)

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/7m44v14sTest

المؤلفون: Flannick, Jason, Fuchsberger, Christian, Mahajan, Anubha, Teslovich, Tanya M, Agarwala, Vineeta, Gaulton, Kyle J, Caulkins, Lizz, Koesterer, Ryan, Ma, Clement, Moutsianas, Loukas, McCarthy, Davis J, Rivas, Manuel A, Perry, John RB, Sim, Xueling, Blackwell, Thomas W, Robertson, Neil R, Rayner, N William, Cingolani, Pablo, Locke, Adam E, Tajes, Juan Fernandez, Highland, Heather M, Dupuis, Josee, Chines, Peter S, Lindgren, Cecilia M, Hartl, Christopher, Jackson, Anne U, Chen, Han, Huyghe, Jeroen R, van de Bunt, Martijn, Pearson, Richard D, Kumar, Ashish, Müller-Nurasyid, Martina, Grarup, Niels, Stringham, Heather M, Gamazon, Eric R, Lee, Jaehoon, Chen, Yuhui, Scott, Robert A, Below, Jennifer E, Chen, Peng, Huang, Jinyan, Go, Min Jin, Stitzel, Michael L, Pasko, Dorota, Parker, Stephen CJ, Varga, Tibor V, Green, Todd, Beer, Nicola L, Day-Williams, Aaron G, Ferreira, Teresa, Fingerlin, Tasha, Horikoshi, Momoko, Hu, Cheng, Huh, Iksoo, Ikram, Mohammad Kamran, Kim, Bong-Jo, Kim, Yongkang, Kim, Young Jin, Kwon, Min-Seok, Lee, Juyoung, Lee, Selyeong, Lin, Keng-Han, Maxwell, Taylor J, Nagai, Yoshihiko, Wang, Xu, Welch, Ryan P, Yoon, Joon, Zhang, Weihua, Barzilai, Nir, Voight, Benjamin F, Han, Bok-Ghee, Jenkinson, Christopher P, Kuulasmaa, Teemu, Kuusisto, Johanna, Manning, Alisa, Ng, Maggie CY, Palmer, Nicholette D, Balkau, Beverley, Stančáková, Alena, Abboud, Hanna E, Boeing, Heiner, Giedraitis, Vilmantas, Prabhakaran, Dorairaj, Gottesman, Omri, Scott, James, Carey, Jason, Kwan, Phoenix, Grant, George, Smith, Joshua D, Neale, Benjamin M, Purcell, Shaun, Butterworth, Adam S, Howson, Joanna MM, Lee, Heung Man, Lu, Yingchang, Kwak, Soo-Heon, Zhao, Wei, Danesh, John, Lam, Vincent KL

المصدر: Scientific data. 4(1)

مصطلحات موضوعية: Humans, Diabetes Mellitus, Type 2, European Continental Ancestry Group, Genetic Variation, Diabetes, Human Genome, Genetics, 2.1 Biological and endogenous factors, Metabolic and endocrine

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/0m72s7jhTest

المؤلفون: Leonard, Hampton L., Nalls, Mike A., Day-Williams, Aaron, Esmaeeli, Sahar, Jarreau, Paige, Bandres-Ciga, Sara, Heutink, Peter, Sardi, S. Pablo, Singleton, Andrew B.

المصدر: Nature Reviews Drug Discovery ; ISSN 1474-1776 1474-1784

مصطلحات موضوعية: Drug Discovery, Pharmacology, General Medicine

الإتاحة: https://doi.org/10.1038/d41573-024-00017-3Test
https://www.nature.com/articles/d41573-024-00017-3.pdfTest
https://www.nature.com/articles/d41573-024-00017-3Test

المؤلفون: Nalls, Mike A, McLean, Cory Y, Rick, Jacqueline, Eberly, Shirley, Hutten, Samantha J, Gwinn, Katrina, Sutherland, Margaret, Martinez, Maria, Heutink, Peter, Williams, Nigel M, Hardy, John, Gasser, Thomas, Brice, Alexis, Price, T Ryan, Nicolas, Aude, Keller, Margaux F, Molony, Cliona, Gibbs, J Raphael, Chen-Plotkin, Alice, Suh, Eunran, Letson, Christopher, Fiandaca, Massimo S, Mapstone, Mark, Federoff, Howard J, Noyce, Alastair J, Morris, Huw, Van Deerlin, Vivianna M, Weintraub, Daniel, Zabetian, Cyrus, Hernandez, Dena G, Lesage, Suzanne, Mullins, Meghan, Conley, Emily Drabant, Northover, Carrie AM, Frasier, Mark, Marek, Ken, Day-Williams, Aaron G, Stone, David J, Ioannidis, John PA, Singleton, Andrew B, investigators*, Parkinson's Disease Biomarkers Program and Parkinson's Progression Marker Initiative

المصدر: The Lancet Neurology. 14(10)

مصطلحات موضوعية: Aging, Prevention, Neurodegenerative, Brain Disorders, Neurosciences, Parkinson's Disease, Clinical Research, 2.1 Biological and endogenous factors, 4.2 Evaluation of markers and technologies, Detection, screening and diagnosis, Aetiology, 4.1 Discovery and preclinical testing of markers and technologies, Neurological, Good Health and Well Being, Aged, Cohort Studies, Disease Progression, Female, Humans, Male, Middle Aged, Models, Statistical, Parkinson Disease, Prodromal Symptoms, Parkinson's Disease Biomarkers Program and Parkinson's Progression Marker Initiative investigators, Clinical Sciences, Neurology & Neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/9nf852rqTest

المؤلفون: Evangelou, Evangelos, Kerkhof, Hanneke J, Styrkarsdottir, Unnur, Ntzani, Evangelia E, Bos, Steffan D, Esko, Tonu, Evans, Daniel S, Metrustry, Sarah, Panoutsopoulou, Kalliope, Ramos, Yolande FM, Thorleifsson, Gudmar, Tsilidis, Konstantinos K, Consortium, arcOGEN, Arden, Nigel, Aslam, Nadim, Bellamy, Nicholas, Birrell, Fraser, Blanco, Francisco J, Carr, Andrew, Chapman, Kay, Day-Williams, Aaron G, Deloukas, Panos, Doherty, Michael, Engström, Gunnar, Helgadottir, Hafdis T, Hofman, Albert, Ingvarsson, Thorvaldur, Jonsson, Helgi, Keis, Aime, Keurentjes, J Christiaan, Kloppenburg, Margreet, Lind, Penelope A, McCaskie, Andrew, Martin, Nicholas G, Milani, Lili, Montgomery, Grant W, Nelissen, Rob GHH, Nevitt, Michael C, Nilsson, Peter M, Ollier, William ER, Parimi, Neeta, Rai, Ashok, Ralston, Stuart H, Reed, Mike R, Riancho, Jose A, Rivadeneira, Fernando, Rodriguez-Fontenla, Cristina, Southam, Lorraine, Thorsteinsdottir, Unnur, Tsezou, Aspasia, Wallis, Gillian A, Wilkinson, J Mark, Gonzalez, Antonio, Lane, Nancy E, Lohmander, L Stefan, Loughlin, John, Metspalu, Andres, Uitterlinden, Andre G, Jonsdottir, Ingileif, Stefansson, Kari, Slagboom, P Eline, Zeggini, Eleftheria, Meulenbelt, Ingrid, Ioannidis, John PA, Spector, Tim D, van Meurs, Joyce BJ, Valdes, Ana M

المصدر: Annals of the Rheumatic Diseases. 73(12)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Immunology, Prevention, Osteoarthritis, Human Genome, Arthritis, Genetics, Aging, 2.1 Biological and endogenous factors, Aetiology, Musculoskeletal, Calcium-Calmodulin-Dependent Protein Kinase Type 2, Female, Gene Frequency, Genetic Predisposition to Disease, Genome-Wide Association Study, HMGN Proteins, Homeodomain Proteins, Humans, Immediate-Early Proteins, Male, Nuclear Receptor Coactivator 3, Osteoarthritis, Hip, Polymorphism, Single Nucleotide, Protein Serine-Threonine Kinases, Protein-Tyrosine Kinases, Sex Factors, White People, arcOGEN Consortium, Epidemiology, Gene Polymorphism, Public Health and Health Services, Arthritis & Rheumatology, Clinical sciences

الوصول الحر: https://escholarship.org/uc/item/8qf9229hTest

المؤلفون: Dorothée Diogo, Chao Tian, Christopher S. Franklin, Mervi Alanne-Kinnunen, Michael March, Chris C. A. Spencer, Ciara Vangjeli, Michael E. Weale, Hannele Mattsson, Elina Kilpeläinen, Patrick M. A. Sleiman, Dermot F. Reilly, Joshua McElwee, Joseph C. Maranville, Arnaub K. Chatterjee, Aman Bhandari, Khanh-Dung H. Nguyen, Karol Estrada, Mary-Pat Reeve, Janna Hutz, Nan Bing, Sally John, Daniel G. MacArthur, Veikko Salomaa, Samuli Ripatti, Hakon Hakonarson, Mark J. Daly, Aarno Palotie, David A. Hinds, Peter Donnelly, Caroline S. Fox, Aaron G. Day-Williams, Robert M. Plenge, Heiko Runz

المصدر: Nature Communications, Vol 9, Iss 1, Pp 1-13 (2018)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2041-1723Test

الوصول الحر: https://doaj.org/article/cb9fc601268446ca86cfc25a436b40c6Test

المؤلفون: Corneliu A. Bodea, Adele A. Mitchell, Alex Bloemendal, Aaron G. Day-Williams, Heiko Runz, Shamil R. Sunyaev

المصدر: Genome Biology, Vol 19, Iss 1, Pp 1-17 (2018)

مصطلحات موضوعية: Noncoding variant, Computational functionality prediction, Epigenetic regulation, Cell type specificity, Functional scoring, Variant prioritization, Biology (General), QH301-705.5, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s13059-018-1546-6Test; https://doaj.org/toc/1474-760XTest

الوصول الحر: https://doaj.org/article/01dfcfcedd2d4a578c8bac8e1ec8674cTest

المؤلفون: Day-Williams, Michaela Joanne

مصطلحات موضوعية: 571.29

الوصول الحر: http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.515262Test