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Genome-wide meta-analysis of muscle weakness identifies 15 susceptibility loci in older men and women
Abstract: Low muscle strength is an important heritable indicator of poor health linked to morbidity and mortality in older people. In a genome-wide association study meta-analysis of 256,523 Europeans aged 60 years and over...
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Genetic basis of falling risk susceptibility in the UK Biobank Study
Abstract: Both extrinsic and intrinsic factors predispose older people to fall. We performed a genome-wide association analysis to investigate how much of an individual’s fall susceptibility can be attributed to genetics in...
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Associations of autozygosity with a broad range of human phenotypes
David W Clark, Yukinori Okada, Kristjan H S Moore, Dan Mason, Nicola Pirastu, Ilaria Gandin, Hannele Mattsson, Catriona L K Barnes, Kuang Lin, Jing Hua Zhao, Patrick Deelen, Rebecca Rohde, Claudia Schurmann, Xiuqing Guo, Franco Giulianini, Weihua Zhang, Carolina Medina-Gomez, Robert Karlsson, Yanchun Bao, Traci M Bartz, Clemens Baumbach, Ginevra Biino, Matthew J Bixley, Marco Brumat, Jin-Fang Chai, Tanguy Corre, Diana L Cousminer, Annelot M Dekker, David A Eccles, Kristel R van Eijk, Christian Fuchsberger, He Gao, Marine Germain, Scott D Gordon, Hugoline G de Haan, Sarah E Harris, Edith Hofer, Alicia Huerta-Chagoya, Catherine Igartua, Iris E Jansen, Yucheng Jia, Tim Kacprowski, Torgny Karlsson, Marcus E Kleber, Shengchao Alfred Li, Ruifang Li-Gao, Anubha Mahajan, Koichi Matsuda, Karina Meidtner, Weihua Meng, May E Montasser, Peter J van der Most, Matthias Munz, Teresa Nutile, Teemu Palviainen, Gauri Prasad, Rashmi B Prasad, Tallapragada Divya Sri Priyanka, Federica Rizzi, Erika Salvi, Bishwa R Sapkota, Daniel Shriner, Line Skotte, Melissa C Smart, Albert Vernon Smith, Ashley van der Spek, Cassandra N Spracklen, Rona J Strawbridge, Salman M Tajuddin, Stella Trompet, Constance Turman, Niek Verweij, Clara Viberti, Lihua Wang, Helen R Warren, Robyn E Wootton, Lisa R Yanek, Jie Yao, Noha A Yousri, Wei Zhao, Adebowale A Adeyemo, Saima Afaq, Carlos Alberto Aguilar-Salinas, Masato Akiyama, Matthew L Albert, Matthew A Allison, Maris Alver, Tin Aung, Fereidoun Azizi, Amy R Bentley, Heiner Boeing, Eric Boerwinkle, Judith B Borja, Gert J de Borst, Erwin P Bottinger, Linda Broer, Harry Campbell, Stephen Chanock, Miao-Li Chee, Guanjie Chen, Yii-Der I Chen, Zhengming Chen, Yen-Feng Chiu, Massimiliano Cocca, Francis S Collins, Maria Pina Concas, Janie Corley, Giovanni Cugliari, Rob M van Dam, Anna Damulina, Maryam S Daneshpour, Felix R Day, Graciela E Delgado, Klodian Dhana, Alexander S F Doney, Marcus Dörr, Ayo P Doumatey, Nduna Dzimiri, S Sunna Ebenesersdóttir, Joshua Elliott, Paul Elliott, Ralf Ewert, Janine F Felix, Krista Fischer, Barry I Freedman, Giorgia Girotto, Anuj Goel, Martin Gögele, Mark O Goodarzi, Mariaelisa Graff, Einat Granot-Hershkovitz, Francine Grodstein, Simonetta Guarrera, Daniel F Gudbjartsson, Kamran Guity, Bjarni Gunnarsson, Yu Guo, Saskia P Hagenaars, Christopher A Haiman, Avner Halevy, Tamara B Harris, Mehdi Hedayati, David A van Heel, Makoto Hirata, Imo Höfer, Chao Agnes Hsiung, Jinyan Huang, Yi-Jen Hung, M Arfan Ikram, Anuradha Jagadeesan, Pekka Jousilahti, Yoichiro Kamatani, Masahiro Kanai, Nicola D Kerrison, Thorsten Kessler, Kay-Tee Khaw, Chiea Chuen Khor, Dominique P V de Kleijn, Woon-Puay Koh, Ivana Kolcic, Peter Kraft, Bernhard K Krämer, Zoltán Kutalik, Johanna Kuusisto, Claudia Langenberg, Lenore J Launer, Deborah A Lawlor, I-Te Lee, Wen-Jane Lee, Markus M Lerch, Liming Li, Jianjun Liu, Marie Loh, Stephanie J London, Stephanie Loomis, Yingchang Lu, Jian’an Luan, Reedik Mägi, Ani W Manichaikul, Paolo Manunta, Gísli Másson, Nana Matoba, Xue W Mei, Christa Meisinger, Thomas Meitinger, Massimo Mezzavilla, Lili Milani, Iona Y Millwood, Yukihide Momozawa, Amy Moore, Pierre-Emmanuel Morange, Hortensia Moreno-Macías, Trevor A Mori, Alanna C Morrison, Taulant Muka, Yoshinori Murakami, Alison D Murray, Renée de Mutsert, Josyf C Mychaleckyj, Mike A Nalls, Matthias Nauck, Matt J Neville, Ilja M Nolte, Ken K Ong, Lorena Orozco, Sandosh Padmanabhan, Gunnar Pálsson, James S Pankow, Cristian Pattaro, Alison Pattie, Ozren Polasek, Neil Poulter, Peter P Pramstaller, Lluis Quintana-Murci, Katri Räikkönen, Sarju Ralhan, Dabeeru C Rao, Wouter Van Rheenen, Stephen S Rich, Paul M Ridker, Cornelius A Rietveld, Antonietta Robino, Frank J A van Rooij, Daniela Ruggiero, Yasaman Saba, Charumathi Sabanayagam, Maria Sabater-Lleal, Cinzia Felicita Sala, Veikko Salomaa, Kevin Sandow, Helena Schmidt, Laura J Scott, William R Scott, Bahareh Sedaghati-Khayat, Bengt Sennblad, Jessica van Setten, Peter J Sever, Wayne H-H Sheu, Yuan Shi, Smeeta Shrestha, Sharvari Rahul Shukla, Jon K Sigurdsson, Timo Tonis Sikka, Jai Rup Singh, Blair H Smith, Alena Stančáková, Alice Stanton, John M Starr, Lilja Stefansdottir, Leon Straker, Patrick Sulem, Gardar Sveinbjornsson, Morris A Swertz, Adele M Taylor, Kent D Taylor, Natalie Terzikhan, Yih-Chung Tham, Gudmar Thorleifsson, Unnur Thorsteinsdottir, Annika Tillander, Russell P Tracy, Teresa Tusié-Luna, Ioanna Tzoulaki, Simona Vaccargiu, Jagadish Vangipurapu, Jan H Veldink, Veronique Vitart, Uwe Völker, Eero Vuoksimaa, Salma M Wakil, Melanie Waldenberger, Gurpreet S Wander, Ya Xing Wang, Nicholas J Wareham, Sarah Wild, Chittaranjan S Yajnik, Jian-Min Yuan, Lingyao Zeng, Liang Zhang, Jie Zhou, Najaf Amin, Folkert W Asselbergs, Stephan J L Bakker, Diane M Becker, Benjamin Lehne, David A Bennett, Leonard H Van den Berg, Sonja I Berndt, Dwaipayan Bharadwaj, Lawrence F Bielak, Murielle Bochud, Mike Boehnke, Claude Bouchard, Jonathan P Bradfield, Jennifer A Brody, Archie Campbell, Shai Carmi, Mark J Caulfield, David Cesarini, John C Chambers, Giriraj Ratan Chandak, Ching-Yu Cheng, Marina Ciullo, Marilyn Cornelis, Daniele Cusi, George Davey Smith, Ian J Deary, Rajkumar Dorajoo, Cornelia M van Duijn, David Ellinghaus, Jeanette Erdmann, Johan G Eriksson, Evangelos Evangelou, Michele K Evans, Jessica D Faul, Bjarke Feenstra, Mary Feitosa, Sylvain Foisy, Andre Franke, Yechiel Friedlander, Paolo Gasparini, Christian Gieger, Clicerio Gonzalez, Philippe Goyette, Struan F A Grant, Lyn R Griffiths, Leif Groop, Vilmundur Gudnason, Ulf Gyllensten, Hakon Hakonarson, Anders Hamsten, Pim van der Harst, Chew-Kiat Heng, Andrew A Hicks, Hagit Hochner, Heikki Huikuri, Steven C Hunt, Vincent W V Jaddoe, Philip L De Jager, Magnus Johannesson, Åsa Johansson, Jost B Jonas, J Wouter Jukema, Juhani Junttila, Jaakko Kaprio, Sharon L. R. Kardia, Fredrik Karpe, Meena Kumari, Markku Laakso, Sander W van der Laan, Jari Lahti, Matthias Laudes, Rodney A Lea, Wolfgang Lieb, Thomas Lumley, Nicholas G Martin, Winfried März, Giuseppe Matullo, Mark I McCarthy, Sarah E Medland, Tony R Merriman, Andres Metspalu, Brian F Meyer, Karen L Mohlke, Grant W Montgomery, Dennis Mook-Kanamori, Patricia B Munroe, Kari E North, Dale R Nyholt, Jeffery R O’connell, Carole Ober, Albertine J Oldehinkel, Walter Palmas, Colin Palmer, Gerard G Pasterkamp, Etienne Patin, Craig E Pennell, Louis Perusse, Patricia A Peyser, Mario Pirastu, Tinca J. C. Polderman, David J Porteous, Danielle Posthuma, Bruce M Psaty, John D Rioux, Fernando Rivadeneira, Charles Rotimi, Jerome I Rotter, Igor Rudan, Hester M den Ruijter, Dharambir K Sanghera, Naveed Sattar, Reinhold Schmidt, Matthias B Schulze, Heribert Schunkert, Robert A Scott, Alan R Shuldiner, Xueling Sim, Neil Small, Jennifer A Smith, Nona Sotoodehnia, E-Shyong Tai, Alexander Teumer, Nicholas J Timpson, Daniela Toniolo, David-Alexandre Tregouet, Tiinamaija Tuomi, Peter Vollenweider, Carol A Wang, David R Weir, John B Whitfield, Cisca Wijmenga, Tien-Yin Wong, John Wright, Jingyun Yang, Lei Yu, Babette S Zemel, Alan B Zonderman, Markus Perola, Patrik K. E. Magnusson, André G Uitterlinden, Jaspal S Kooner, Daniel I Chasman, Ruth J. F. Loos, Nora Franceschini, Lude Franke, Chris S Haley, Caroline Hayward, Robin G Walters, John R. B. Perry, Tōnu Esko, Agnar Helgason, Kari Stefansson, Peter K Joshi, Michiaki Kubo, James F Wilson
Oct 31, 2020
Abstract: In many species, the offspring of related parents suffer reduced reproductive success, a phenomenon known as inbreeding depression. In humans, the importance of this effect has remained unclear, partly because...
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Genetic variation across RNA metabolism and cell death gene networks is implicated in the semantic variant of primary progressive aphasia
Luke W. Bonham, Natasha Z. R. Steele, Celeste M. Karch, Iris Broce, Ethan G. Geier, Natalie L. Wen, Parastoo Momeni, John Hardy, Zachary A. Miller, Maria Luisa Gorno-Tempini, Christopher P. Hess, Patrick Lewis, Bruce L. Miller, William W. Seeley, Claudia Manzoni, Rahul S. Desikan, Sergio E. Baranzini, Raffaele Ferrari, Jennifer S. Yokoyama, D. G. Hernandez, M. A. Nalls, J. D. Rohrer, A. Ramasamy, J. B. J. Kwok, C. Dobson-Stone, P. R. Schofield, G. M. Halliday, J. R. Hodges, O. Piguet, L. Bartley, E. Thompson, E. Haan, I. Hernández, A. Ruiz, M. Boada, B. Borroni, A. Padovani, C. Cruchaga, N. J. Cairns, L. Benussi, G. Binetti, R. Ghidoni, G. Forloni, D. Albani, D. Galimberti, C. Fenoglio, M. Serpente, E. Scarpini, J. Clarimón, A. Lleó, R. Blesa, M. Landqvist Waldö, K. Nilsson, C. Nilsson, I. R. A. Mackenzie, G. -Y. R. Hsiung, D. M. A. Mann, J. Grafman, C. M. Morris, J. Attems, T. D. Griffiths, I. G. McKeith, A. J. Thomas, P. Pietrini, E. D. Huey, E. M. Wassermann, A. Baborie, E. Jaros, M. C. Tierney, P. Pastor, C. Razquin, S. Ortega-Cubero, E. Alonso, R. Perneczky, J. Diehl-Schmid, P. Alexopoulos, A. Kurz, I. Rainero, E. Rubino, L. Pinessi, E. Rogaeva, P. St George-Hyslop, G. Rossi, F. Tagliavini, G. Giaccone, J. B. Rowe, J. C. M. Schlachetzki, J. Uphill, J. Collinge, S. Mead, A. Danek, V. M. Van Deerlin, M. Grossman, J. Q. Trojanowski, J. van der Zee, M. Cruts, C. Van Broeckhoven, S. F. Cappa, I. Leber, D. Hannequin, V. Golfier, M. Vercelletto, A. Brice, B. Nacmias, S. Sorbi, S. Bagnoli, I. Piaceri, J. E. Nielsen, L. E. Hjermind, M. Riemenschneider, M. Mayhaus, B. Ibach, G. Gasparoni, S. Pichler, W. Gu, M. N. Rossor, N. C. Fox, J. D. Warren, M. G. Spillantini, H. R. Morris, P. Rizzu, P. Heutink, J. S. Snowden, S. Rollinson, A. Richardson, A. Gerhard, A. C. Bruni, R. Maletta, F. Frangipane, C. Cupidi, L. Bernardi, M. Anfossi, M. Gallo, M. E. Conidi, N. Smirne, R. Rademakers, M. Baker, D. W. Dickson, N. R. Graff-Radford, R. C. Petersen, D. Knopman, K. A. Josephs, B. F. Boeve, J. E. Parisi, A. M. Karydas, H. Rosen, J. C. van Swieten, E. G. P. Dopper, H. Seelaar, Y. A. L. Pijnenburg, P. Scheltens, G. Logroscino, R. Capozzo, V. Novelli, A. A. Puca, M. Franceschi, A. Postiglione, G. Milan, P. Sorrentino, M. Kristiansen, H. -H. Chiang, C. Graff, F. Pasquier, A. Rollin, V. Deramecourt, T. Lebouvier, D. Kapogiannis, L. Ferrucci, S. Pickering-Brown, A. B. Singleton
Jul 25, 2020
Abstract: The semantic variant of primary progressive aphasia (svPPA) is a clinical syndrome characterized by neurodegeneration and progressive loss of semantic knowledge. Unlike many other forms of frontotemporal lobar...
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The contribution of X-linked coding variation to severe developmental disorders
Hilary C. Martin, Eugene J. Gardner, Kaitlin E. Samocha, Joanna Kaplanis, Nadia Akawi, Alejandro Sifrim, Ruth Y. Eberhardt, Ana Lisa Taylor Tavares, Matthew D. C. Neville, Mari E. K. Niemi, Giuseppe Gallone, Jeremy McRae, Caroline F. Wright, David R. FitzPatrick, Helen V. Firth, Matthew E. Hurles, Silvia Borras, Caroline Clark, John Dean, Zosia Miedzybrodzka, Alison Ross, Stephen Tennant, Tabib Dabir, Deirdre Donnelly, Mervyn Humphreys, Alex Magee, Vivienne McConnell, Shane McKee, Susan McNerlan, Patrick J. Morrison, Gillian Rea, Fiona Stewart, Trevor Cole, Nicola Cooper, Lisa Cooper-Charles, Helen Cox, Lily Islam, Joanna Jarvis, Rebecca Keelagher, Derek Lim, Dominic McMullan, Jenny Morton, Swati Naik, Mary O’Driscoll, Kai-Ren Ong, Deborah Osio, Nicola Ragge, Sarah Turton, Julie Vogt, Denise Williams, Simon Bodek, Alan Donaldson, Alison Hills, Karen Low, Ruth Newbury-Ecob, Andrew M. Norman, Eileen Roberts, Ingrid Scurr, Sarah Smithson, Madeleine Tooley, Steve Abbs, Ruth Armstrong, Carolyn Dunn, Simon Holden, Soo-Mi Park, Joan Paterson, Lucy Raymond, Evan Reid, Richard Sandford, Ingrid Simonic, Marc Tischkowitz, Geoff Woods, Lisa Bradley, Joanne Comerford, Andrew Green, Sally Lynch, Shirley McQuaid, Brendan Mullaney, Jonathan Berg, David Goudie, Eleni Mavrak, Joanne McLean, Catherine McWilliam, Eleanor Reavey, Tara Azam, Elaine Cleary, Andrew Jackson, Wayne Lam, Anne Lampe, David Moore, Mary Porteous, Emma Baple, Júlia Baptista, Carole Brewer, Bruce Castle, Emma Kivuva, Martina Owens, Julia Rankin, Charles Shaw-Smith, Claire Turner, Peter Turnpenny, Carolyn Tysoe, Therese Bradley, Rosemarie Davidson, Carol Gardiner, Shelagh Joss, Esther Kinning, Cheryl Longman, Ruth McGowan, Victoria Murday, Daniela Pilz, Edward Tobias, Margo Whiteford, Nicola Williams, Angela Barnicoat, Emma Clement, Francesca Faravelli, Jane Hurst, Lucy Jenkins, Wendy Jones, V.K.Ajith Kumar, Melissa Lees, Sam Loughlin, Alison Male, Deborah Morrogh, Elisabeth Rosser, Richard Scott, Louise Wilson, Ana Beleza, Charu Deshpande, Frances Flinter, Muriel Holder, Melita Irving, Louise Izatt, Dragana Josifova, Shehla Mohammed, Aneta Molenda, Leema Robert, Wendy Roworth, Deborah Ruddy, Mina Ryten, Shu Yau, Christopher Bennett, Moira Blyth, Jennifer Campbell, Andrea Coates, Angus Dobbie, Sarah Hewitt, Emma Hobson, Eilidh Jackson, Rosalyn Jewell, Alison Kraus, Katrina Prescott, Eamonn Sheridan, Jenny Thomson, Kirsty Bradshaw, Abhijit Dixit, Jacqueline Eason, Rebecca Haines, Rachel Harrison, Stacey Mutch, Ajoy Sarkar, Claire Searle, Nora Shannon, Abid Sharif, Mohnish Suri, Pradeep Vasudevan, Natalie Canham, Ian Ellis, Lynn Greenhalgh, Emma Howard, Victoria Stinton, Andrew Swale, Astrid Weber, Siddharth Banka, Catherine Breen, Tracy Briggs, Emma Burkitt-Wright, Kate Chandler, Jill Clayton-Smith, Dian Donnai, Sofia Douzgou, Lorraine Gaunt, Elizabeth Jones, Bronwyn Kerr, Claire Langley, Kay Metcalfe, Audrey Smith, Ronnie Wright, David Bourn, John Burn, Richard Fisher, Steve Hellens, Alex Henderson, Tara Montgomery, Miranda Splitt, Volker Straub, Michael Wright, Simon Zwolinski, Zoe Allen, Birgitta Bernhard, Angela Brady, Claire Brooks, Louise Busby, Virginia Clowes, Neeti Ghali, Susan Holder, Rita Ibitoye, Emma Wakeling, Edward Blair, Jenny Carmichael, Deirdre Cilliers, Susan Clasper, Richard Gibbons, Usha Kini, Tracy Lester, Andrea Nemeth, Joanna Poulton, Sue Price, Debbie Shears, Helen Stewart, Andrew Wilkie, Shadi Albaba, Duncan Baker, Meena Balasubramanian, Diana Johnson, Michael Parker, Oliver Quarrell, Alison Stewart, Josh Willoughby, Charlene Crosby, Frances Elmslie, Tessa Homfray, Huilin Jin, Nayana Lahiri, Sahar Mansour, Karen Marks, Meriel McEntagart, Anand Saggar, Kate Tatton-Brown, Rachel Butler, Angus Clarke, Sian Corrin, Andrew Fry, Arveen Kamath, Emma McCann, Hood Mugalaasi, Caroline Pottinger, Annie Procter, Julian Sampson, Francis Sansbury, Vinod Varghese, Diana Baralle, Alison Callaway, Emma J. Cassidy, Stacey Daniels, Andrew Douglas, Nicola Foulds, David Hunt, Mira Kharbanda, Katherine Lachlan, Catherine Mercer, Lucy Side, I. Karen Temple, Diana Wellesley
Jan 27, 2021
Abstract: Over 130 X-linked genes have been robustly associated with developmental disorders, and X-linked causes have been hypothesised to underlie the higher developmental disorder rates in males. Here, we evaluate the burden...
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Genetic basis of falling risk susceptibility in the UK Biobank Study
Abstract: Both extrinsic and intrinsic factors predispose older people to fall. We performed a genome-wide association analysis to investigate how much of an individual’s fall susceptibility can be attributed to genetics in...
Published by: