Zobrazeno 1 - 10
of 122
pro vyhledávání: '"Karl Heilbron"'
Autor:
Alice Braun, Sudhanshu Shekhar, Daniel F. Levey, Peter Straub, Julia Kraft, Georgia M. Panagiotaropoulou, Karl Heilbron, Swapnil Awasthi, Rafael Meleka Hanna, Sarah Hoffmann, Maike Stein, Sophie Lehnerer, Philipp Mergenthaler, Abdelrahman G. Elnahas, Apostolia Topaloudi, Maria Koromina, Teemu Palviainen, Bergrun Asbjornsdottir, Hreinn Stefansson, Astros Th. Skuladóttir, Ingileif Jónsdóttir, Kari Stefansson, Kadri Reis, Tõnu Esko, Aarno Palotie, Frank Leypoldt, Murray B. Stein, Pierre Fontanillas, Estonian Biobank Research Team, andMe Research Team, Jaakko Kaprio, Joel Gelernter, Lea K. Davis, Peristera Paschou, Martijn R. Tannemaat, Jan J.G.M. Verschuuren, Gregor Kuhlenbäumer, Peter K. Gregersen, Maartje G. Huijbers, Frauke Stascheit, Andreas Meisel, Stephan Ripke
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-13 (2024)
Abstract Myasthenia gravis (MG) is a rare autoantibody-mediated disease affecting the neuromuscular junction. We performed a genome-wide association study of 5708 MG cases and 432,028 controls of European ancestry and a replication study in 3989 case
Externí odkaz:
https://doaj.org/article/60cf6148fd9f44d284695ed5465db1c0
Autor:
Vanessa Pitz, Mary B. Makarious, Sara Bandres-Ciga, Hirotaka Iwaki, andMe Research Team, Andrew B. Singleton, Mike Nalls, Karl Heilbron, Cornelis Blauwendraat
Publikováno v:
npj Parkinson's Disease, Vol 10, Iss 1, Pp 1-10 (2024)
Abstract Although many rare variants have been reportedly associated with Parkinson’s disease (PD), many have not been replicated or have failed to replicate. Here, we conduct a large-scale replication of rare PD variants. We assessed a total of 27
Externí odkaz:
https://doaj.org/article/00d7126da364460db8cd2857981d1321
Autor:
Rebecca C. Richmond, Laurence J. Howe, Karl Heilbron, Samuel Jones, Junxi Liu, andMe Research Team, Xin Wang, Michael N. Weedon, Martin K. Rutter, Deborah A. Lawlor, George Davey Smith, Céline Vetter
Publikováno v:
Communications Biology, Vol 6, Iss 1, Pp 1-14 (2023)
Abstract Spouses may affect each other’s sleeping behaviour. In 47,420 spouse-pairs from the UK Biobank, we found a weak positive phenotypic correlation between spouses for self-reported sleep duration (r = 0.11; 95% CI = 0.10, 0.12) and a weak inv
Externí odkaz:
https://doaj.org/article/0d6afd73158a41388c6fdaaca120cd03
Autor:
Lynne Krohn, Karl Heilbron, Cornelis Blauwendraat, Regina H. Reynolds, Eric Yu, Konstantin Senkevich, Uladzislau Rudakou, Mehrdad A. Estiar, Emil K. Gustavsson, Kajsa Brolin, Jennifer A. Ruskey, Kathryn Freeman, Farnaz Asayesh, Ruth Chia, Isabelle Arnulf, Michele T. M. Hu, Jacques Y. Montplaisir, Jean-François Gagnon, Alex Desautels, Yves Dauvilliers, Gian Luigi Gigli, Mariarosaria Valente, Francesco Janes, Andrea Bernardini, Birgit Högl, Ambra Stefani, Abubaker Ibrahim, Karel Šonka, David Kemlink, Wolfgang Oertel, Annette Janzen, Giuseppe Plazzi, Francesco Biscarini, Elena Antelmi, Michela Figorilli, Monica Puligheddu, Brit Mollenhauer, Claudia Trenkwalder, Friederike Sixel-Döring, Valérie Cochen De Cock, Christelle Charley Monaca, Anna Heidbreder, Luigi Ferini-Strambi, Femke Dijkstra, Mineke Viaene, Beatriz Abril, Bradley F. Boeve, andMe Research Team, Sonja W. Scholz, Mina Ryten, Sara Bandres-Ciga, Alastair Noyce, Paul Cannon, Lasse Pihlstrøm, Mike A. Nalls, Andrew B. Singleton, Guy A. Rouleau, Ronald B. Postuma, Ziv Gan-Or
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-16 (2022)
REM-sleep behavior disorder often precedes Parkinson’s disease or dementia. Here, the authors perform a genome-wide association study for REM-sleep behavior disorder, and discover how it potentially affects gene expression in the brain.
Externí odkaz:
https://doaj.org/article/59eca1d6c47b4c98aed465f4c7a60228
Autor:
Ben Brumpton, Eleanor Sanderson, Karl Heilbron, Fernando Pires Hartwig, Sean Harrison, Gunnhild Åberge Vie, Yoonsu Cho, Laura D. Howe, Amanda Hughes, Dorret I. Boomsma, Alexandra Havdahl, John Hopper, Michael Neale, Michel G. Nivard, Nancy L. Pedersen, Chandra A. Reynolds, Elliot M. Tucker-Drob, Andrew Grotzinger, Laurence Howe, Tim Morris, Shuai Li, The Within-family Consortium, The 23andMe Research Team, Adam Auton, Frank Windmeijer, Wei-Min Chen, Johan Håkon Bjørngaard, Kristian Hveem, Cristen Willer, David M. Evans, Jaakko Kaprio, George Davey Smith, Bjørn Olav Åsvold, Gibran Hemani, Neil M. Davies
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-13 (2020)
Family-based study designs have been applied to resolve confounding by population stratification, dynastic effects and assortative mating in genetic association analyses. Here, Brumpton et al. describe theory and simulations for overcoming such biase
Externí odkaz:
https://doaj.org/article/85accda5604c471488ab1aecb46cd352
Autor:
James R. Ashenhurst, Hoang Nhan, Janie F. Shelton, Shirley Wu, Joyce Y. Tung, Sarah L. Elson, James K. Stoller, Michelle Agee, Stella Aslibekyan, Adam Auton, Elizabeth Babalola, Robert K. Bell, Jessica Bielenberg, Katarzyna Bryc, Emily Bullis, Briana Cameron, Daniella Coker, Gabriel Cuellar Partida, Devika Dhamija, Sayantan Das, Teresa Filshtein, Kipper Fletez-Brant, Pierre Fontanillas, Will Freyman, Pooja M. Gandhi, Karl Heilbron, Barry Hicks, David A. Hinds, Karen E. Huber, Ethan M. Jewett, Yunxuan Jiang, Aaron Kleinman, Katelyn Kukar, Vanessa A. Lane, Keng-Han Lin, Maya Lowe, Marie K. Luff, Jennifer C. McCreight, Matthew H. McIntyre, Kimberly F. McManus, Steven J. Micheletti, Meghan E. Moreno, Joanna L. Mountain, Sahar V. Mozaffari, Priyanka Nandakumar, Elizabeth S. Noblin, Jared O’Connell, Aaron A. Petrakovitz, G. David Poznik, Morgan Schumacher, Anjali J. Shastri, Jingchunzi Shi, Suyash Shringarpure, Chao Tian, Vinh Tran, Xin Wang, Wei Wang, Catherine H. Weldon, Peter Wilton
Publikováno v:
Chest. 161:373-381
Background Alpha-1 antitrypsin deficiency (AATD) is an autosomal co-dominant condition that predisposes to emphysema, cirrhosis, panniculitis, and vasculitis. Under-recognition has prompted efforts to enhance early detection and testing of at-risk in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b448c00c09f424d8a138e26d18ba6147
https://doi.org/10.1016/j.chest.2021.09.041
https://doi.org/10.1016/j.chest.2021.09.041
Autor:
Karl Heilbron, Jingchunzi Shi, Wei Wang, Adrian M. Jubb, Steven J. Pitts, Sahar V. Mozaffari, Vladimir Vacic, Peng Yue, Xin Wang
Publikováno v:
The Journal of Pathology
Human genetics plays an increasingly important role in drug development and population health. Here we review the history of human genetics in the context of accelerating the discovery of therapies, present examples of how human genetics evidence sup
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77c0a496ce41af16d53df3ae25867204
http://europepmc.org/articles/PMC8251523
http://europepmc.org/articles/PMC8251523
Autor:
Kristi Krebs, Jonas Bovijn, Neil Zheng, Maarja Lepamets, Jenny C. Censin, Tuuli Jürgenson, Dage Särg, Erik Abner, Triin Laisk, Yang Luo, Line Skotte, Frank Geller, Bjarke Feenstra, Wei Wang, Adam Auton, Soumya Raychaudhuri, Tõnu Esko, Andres Metspalu, Sven Laur, Dan M. Roden, Wei-Qi Wei, Michael V. Holmes, Cecilia M. Lindgren, Elizabeth J. Phillips, Reedik Mägi, Lili Milani, João Fadista, Michelle Agee, Stella Aslibekyan, Robert K. Bell, Katarzyna Bryc, Sarah K. Clark, Sarah L. Elson, Kipper Fletez-Brant, Pierre Fontanillas, Nicholas A. Furlotte, Pooja M. Gandhi, Karl Heilbron, Barry Hicks, David A. Hinds, Karen E. Huber, Ethan M. Jewett, Yunxuan Jiang, Aaron Kleinman, Keng-Han Lin, Nadia K. Litterman, Marie K. Luff, Jennifer C. McCreight, Matthew H. McIntyre, Kimberly F. McManus, Joanna L. Mountain, Sahar V. Mozaffari, Priyanka Nandakumar, Elizabeth S. Noblin, Carrie A.M. Northover, Jared O’Connell, Aaron A. Petrakovitz, Steven J. Pitts, G. David Poznik, J. Fah Sathirapongsasuti, Anjali J. Shastri, Janie F. Shelton, Suyash Shringarpure, Chao Tian, Joyce Y. Tung, Robert J. Tunney, Vladimir Vacic, Xin Wang, Amir S. Zare
Publikováno v:
The American Journal of Human Genetics. 107:612-621
Hypersensitivity reactions to drugs are often unpredictable and can be life threatening, underscoring a need for understanding their underlying mechanisms and risk factors. The extent to which germline genetic variation influences the risk of commonl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b449294124373a0265767122010de84
https://doi.org/10.1016/j.ajhg.2020.08.008
https://doi.org/10.1016/j.ajhg.2020.08.008
Autor:
Alastair J. Noyce, Mike A. Nalls, Jonathan P. Bestwick, Daniel Belete, Andrew B. Singleton, Andrew J. Lees, Benjamin Meir Jacobs, Cornelis Blauwendraat, Karl Heilbron, John Hardy, A Schrag, Gavin Giovannoni, Ruth Dobson, Sara Bandres-Ciga
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 91:1046-1054
ObjectiveTo systematically investigate the association of environmental risk factors and prodromal features with incident Parkinson’s disease (PD) diagnosis and the interaction of genetic risk with these factors. To evaluate whether existing risk p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18b787e23020220ddb68f6732d4f172e
https://doi.org/10.1136/jnnp-2020-323646
https://doi.org/10.1136/jnnp-2020-323646
Autor:
Nadia Litterman, Steven J. Micheletti, Janie F. Shelton, Joanna L. Mountain, Michelle Agee, Samantha G. Ancona Esselmann, Sayantan Das, Ethan M. Jewett, S. Clark, A. Petrakovitz, Karl Heilbron, Suyash Shringarpure, Jeffery R. O'Connell, G. David Poznik, Pierre Fontanillas, Kipper Fletez-Brant, Keng-Han Lin, Sahar V. Mozaffari, William A. Freyman, Joyce Y. Tung, Carrie Northover, Anjali J. Shastri, Kimberly F. McManus, Adam Auton, Aaron Kleinman, L. Noblin, P. Gandhi, Xin Wang, Vladimir Vacic, Chao Tian, Karen E. Huber, Jennifer C. McCreight, Yunxuan Jiang, R. Tunney, Robert K. Bell, Sarah L. Elson, Barry W. Hicks, A. Zare, Sandra Beleza, Stella Aslibekyan, David A. Hinds, Meghan E. Moreno, Steven J. Pitts, Kasia Bryc, Matthew H. McIntyre, P. Nandakumar
Publikováno v:
American Journal of Human Genetics
According to historical records of transatlantic slavery, traders forcibly deported an estimated 12.5 million people from ports along the Atlantic coastline of Africa between the 16th and 19th centuries, with global impacts reaching to the present da
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f08defb0a0eff823c05e153d1f0c5274
http://europepmc.org/articles/PMC7413858
http://europepmc.org/articles/PMC7413858