Zobrazeno 1 - 10
of 136
pro vyhledávání: '"Robin N, Beaumont"'
Autor:
Gareth Hawkes, Robin N. Beaumont, Zilin Li, Ravi Mandla, Xihao Li, Christine M. Albert, Donna K. Arnett, Allison E. Ashley-Koch, Aneel A. Ashrani, Kathleen C. Barnes, Eric Boerwinkle, Jennifer A. Brody, April P. Carson, Nathalie Chami, Yii-Der Ida Chen, Mina K. Chung, Joanne E. Curran, Dawood Darbar, Patrick T. Ellinor, Myrian Fornage, Victor R. Gordeuk, Xiuqing Guo, Jiang He, Chii-Min Hwu, Rita R. Kalyani, Robert Kaplan, Sharon L. R. Kardia, Charles Kooperberg, Ruth J. F. Loos, Steven A. Lubitz, Ryan L. Minster, Take Naseri, Satupa’itea Viali, Braxton D. Mitchell, Joanne M. Murabito, Nicholette D. Palmer, Bruce M. Psaty, Susan Redline, M. Benjamin Shoemaker, Edwin K. Silverman, Marilyn J. Telen, Scott T. Weiss, Lisa R. Yanek, Hufeng Zhou, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Ching-Ti Liu, Kari E. North, Anne E. Justice, Jonathan M. Locke, Nick Owens, Anna Murray, Kashyap Patel, Timothy M. Frayling, Caroline F. Wright, Andrew R. Wood, Xihong Lin, Alisa Manning, Michael N. Weedon
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-11 (2024)
Abstract The role of rare non-coding variation in complex human phenotypes is still largely unknown. To elucidate the impact of rare variants in regulatory elements, we performed a whole-genome sequencing association analysis for height using 333,100
Externí odkaz:
https://doaj.org/article/b2e3a91ecb614324b7f2fdd7370d5155
Publikováno v:
Genome Medicine, Vol 16, Iss 1, Pp 1-10 (2024)
Abstract Background Genetic variants that severely alter protein products (e.g. nonsense, frameshift) are often associated with disease. For some genes, these predicted loss-of-function variants (pLoFs) are observed throughout the gene, whilst in oth
Externí odkaz:
https://doaj.org/article/38a6936aa39247d38bb363a5ab54185d
Autor:
Francesco Casanova, Jessica O’Loughlin, Vasilis Karageorgiou, Robin N. Beaumont, Jack Bowden, Andrew R. Wood, Jessica Tyrrell
Publikováno v:
BMC Medicine, Vol 21, Iss 1, Pp 1-13 (2023)
Abstract Background Mental health conditions represent one of the major groups of non-transmissible diseases. Physical activity (PA) and sedentary time (ST) have been shown to affect mental health outcomes in opposite directions. In this study, we us
Externí odkaz:
https://doaj.org/article/efaa84b5a62a4a28a722661b5a0ec94f
Autor:
Katherine S. Ruth, Robin N. Beaumont, Jonathan M. Locke, Jessica Tyrrell, Carolyn J. Crandall, Gareth Hawkes, Timothy M. Frayling, Julia K. Prague, Kashyap A. Patel, Andrew R. Wood, Michael N. Weedon, Anna Murray
Publikováno v:
BMC Medical Genomics, Vol 16, Iss 1, Pp 1-11 (2023)
Abstract Background Vasomotor symptoms (VMS) can often significantly impact women’s quality of life at menopause. In vivo studies have shown that increased neurokinin B (NKB) / neurokinin 3 receptor (NK3R) signalling contributes to VMS, with previo
Externí odkaz:
https://doaj.org/article/145ca60b899e4205aab6ed58c64c7ff5
Autor:
Gareth Hawkes, Loic Yengo, Sailaja Vedantam, Eirini Marouli, Robin N Beaumont, GIANT Consortium, Jessica Tyrrell, Michael N Weedon, Joel Hirschhorn, Timothy M Frayling, Andrew R Wood
Publikováno v:
PLoS Genetics, Vol 19, Iss 9, p e1010934 (2023)
Findings from genome-wide association studies have facilitated the generation of genetic predictors for many common human phenotypes. Stratifying individuals misaligned to a genetic predictor based on common variants may be important for follow-up st
Externí odkaz:
https://doaj.org/article/de75353f177a495d861e3958357fc622
Autor:
Maneka Haulder, Alice E. Hughes, Robin N. Beaumont, Bridget A. Knight, Andrew T. Hattersley, Beverley M. Shields, Rachel M. Freathy
Publikováno v:
BMC Pediatrics, Vol 22, Iss 1, Pp 1-11 (2022)
Abstract Background Human birthweight is a complex, multifactorial trait. Maternal characteristics contribute to birthweight variation by influencing the intrauterine environment. Variation explained by genetic effects is also important, but their co
Externí odkaz:
https://doaj.org/article/f73b646823a8472f9e0b12e6b293e79f
Autor:
Michael N Weedon, Samuel E Jones, Jacqueline M Lane, Jiwon Lee, Hanna M Ollila, Amy Dawes, Jess Tyrrell, Robin N Beaumont, Timo Partonen, Ilona Merikanto, Stephen S Rich, Jerome I Rotter, Timothy M Frayling, Martin K Rutter, Susan Redline, Tamar Sofer, Richa Saxena, Andrew R Wood
Publikováno v:
PLoS Genetics, Vol 18, Iss 9, p e1010356 (2022)
Rare variants in ten genes have been reported to cause Mendelian sleep conditions characterised by extreme sleep duration or timing. These include familial natural short sleep (ADRB1, DEC2/BHLHE41, GRM1 and NPSR1), advanced sleep phase (PER2, PER3, C
Externí odkaz:
https://doaj.org/article/8a07f44a6e11440e8d43f900cb9bdbf7
Autor:
Susan Martin, Jessica Tyrrell, E Louise Thomas, Matthew J Bown, Andrew R Wood, Robin N Beaumont, Lam C Tsoi, Philip E Stuart, James T Elder, Philip Law, Richard Houlston, Christopher Kabrhel, Nikos Papadimitriou, Marc Gunter, Caroline Bull, Joshua A Bell, Emma E Vincent, Naveed Sattar, Malcolm G Dunlop, Ian PM Tomlinson, Sara Lindström, INVENT consortium, Jimmy D Bell, Timothy Frayling, Hanieh Yaghootkar
Publikováno v:
eLife, Vol 11 (2022)
Externí odkaz:
https://doaj.org/article/40b858df13344706935722cd933d8d45
Autor:
Susan Martin, Jessica Tyrrell, E Louise Thomas, Matthew J Bown, Andrew R Wood, Robin N Beaumont, Lam C Tsoi, Philip E Stuart, James T Elder, Philip Law, Richard Houlston, Christopher Kabrhel, Nikos Papadimitriou, Marc J Gunter, Caroline J Bull, Joshua A Bell, Emma E Vincent, Naveed Sattar, Malcolm G Dunlop, Ian PM Tomlinson, Sara Lindström, INVENT consortium, Jimmy D Bell, Timothy M Frayling, Hanieh Yaghootkar
Publikováno v:
eLife, Vol 11 (2022)
Background: Some individuals living with obesity may be relatively metabolically healthy, whilst others suffer from multiple conditions that may be linked to adverse metabolic effects or other factors. The extent to which the adverse metabolic compon
Externí odkaz:
https://doaj.org/article/6ad55c6d14b64beb84bf87baac62a5be
Autor:
Harry D. Green, Alistair Jones, Jonathan P. Evans, Andrew R. Wood, Robin N. Beaumont, Jessica Tyrrell, Timothy M. Frayling, Christopher Smith, Michael N. Weedon
Publikováno v:
PLoS Genetics, Vol 17, Iss 6 (2021)
Frozen shoulder is a painful condition that often requires surgery and affects up to 5% of individuals aged 40–60 years. Little is known about the causes of the condition, but diabetes is a strong risk factor. To begin to understand the biological
Externí odkaz:
https://doaj.org/article/743bd257e1b14cf6b5f8eab1ed15787d