Zobrazeno 1 - 10
of 47
pro vyhledávání: '"Aimee M. Deaton"'
Autor:
Melanie Zheng, Aaron Hakim, Chigoziri Konkwo, Aimee M. Deaton, Lucas D. Ward, Marina G. Silveira, David N. Assis, AnnMarie Liapakis, Ariel Jaffe, Z. Gordon Jiang, Michael P. Curry, Michelle Lai, Michael H. Cho, Daniel Dykas, Allen Bale, Pramod K. Mistry, Silvia Vilarinho
Publikováno v:
EBioMedicine, Vol 95, Iss , Pp 104747- (2023)
Summary: Background: Whole-exome sequencing (WES) is an effective tool for diagnosis in patients who remain undiagnosed despite a comprehensive clinical work-up. While WES is being used increasingly in pediatrics and oncology, it remains underutilize
Externí odkaz:
https://doaj.org/article/180bc15093c540db85713ec4b61984c6
Autor:
Aimee M. Deaton, Aditi Dubey, Lucas D. Ward, Peter Dornbos, Jason Flannick, AMP-T2D-GENES Consortium, Elaine Yee, Simina Ticau, Leila Noetzli, Margaret M. Parker, Rachel A. Hoffing, Carissa Willis, Mollie E. Plekan, Aaron M. Holleman, Gregory Hinkle, Kevin Fitzgerald, Akshay K. Vaishnaw, Paul Nioi
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-12 (2022)
Abdominal fat has been shown to increase cardiometabolic disease risk. In this study, the authors report that loss-of-function variants in the gene INHBE associate with lower BMI-adjusted waist-to-hip ratio, a surrogate measure of abdominal fat.
Externí odkaz:
https://doaj.org/article/a18ddbd876414e068f4e4d4e72abd720
Autor:
Aimee M. Deaton, Margaret M. Parker, Lucas D. Ward, Alexander O. Flynn-Carroll, Lucas BonDurant, Gregory Hinkle, Parsa Akbari, Luca A. Lotta, Regeneron Genetics Center, DiscovEHR Collaboration, Aris Baras, Paul Nioi
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-16 (2021)
Abstract Sequencing of large cohorts offers an unprecedented opportunity to identify rare genetic variants and to find novel contributors to human disease. We used gene-based collapsing tests to identify genes associated with glucose, HbA1c and type
Externí odkaz:
https://doaj.org/article/3eba2ec7d59241e2a1ea8ba7d9c77d4a
Autor:
Lucas D. Ward, Ho-Chou Tu, Chelsea B. Quenneville, Shira Tsour, Alexander O. Flynn-Carroll, Margaret M. Parker, Aimee M. Deaton, Patrick A. J. Haslett, Luca A. Lotta, Niek Verweij, Manuel A. R. Ferreira, Regeneron Genetics Center, Geisinger-Regeneron DiscovEHR Collaboration, Aris Baras, Gregory Hinkle, Paul Nioi
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-14 (2021)
Circulating liver enzymes, like alanine aminotransferase (ALT) and aspartate aminotransferase (AST), are highly heritable and predictive of disease. Here, the authors perform a genome-wide association study on ALT and AST, revealing a rare variant in
Externí odkaz:
https://doaj.org/article/f13505aebcc04860b9176de8ff12e468
Autor:
Margaret M. Parker, Scott M. Damrauer, Catherine Tcheandjieu, David Erbe, Emre Aldinc, Philip N. Hawkins, Julian D. Gillmore, Leland E. Hull, Julie A. Lynch, Jacob Joseph, Simina Ticau, Alexander O. Flynn-Carroll, Aimee M. Deaton, Lucas D. Ward, Themistocles L. Assimes, Philip S. Tsao, Kyong-Mi Chang, Daniel J. Rader, Kevin Fitzgerald, Akshay K. Vaishnaw, Gregory Hinkle, Paul Nioi
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-10 (2021)
Abstract Hereditary transthyretin-mediated (hATTR) amyloidosis is an underdiagnosed, progressively debilitating disease caused by mutations in the transthyretin (TTR) gene. V122I, a common pathogenic TTR mutation, is found in 3–4% of individuals of
Externí odkaz:
https://doaj.org/article/5c5a6c2a17f74f718458b7ee194eb2f4
Phenotypes associated with genes encoding drug targets are predictive of clinical trial side effects
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-11 (2019)
Safety issues including side effects are one of the major factors causing failure of clinical trials in drug development. Here, the authors leverage information about phenotypes associated with variation in genes encoding drug targets to predict drug
Externí odkaz:
https://doaj.org/article/003cfedb56c34cf29e4173da6041f948
Autor:
Egil Ferkingstad, Asmundur Oddsson, Solveig Gretarsdottir, Stefania Benonisdottir, Gudmar Thorleifsson, Aimee M. Deaton, Stefan Jonsson, Olafur A. Stefansson, Gudmundur L. Norddahl, Florian Zink, Gudny A. Arnadottir, Bjarni Gunnarsson, Gisli H. Halldorsson, Anna Helgadottir, Brynjar O. Jensson, Ragnar P. Kristjansson, Gardar Sveinbjornsson, David A. Sverrisson, Gisli Masson, Isleifur Olafsson, Gudmundur I. Eyjolfsson, Olof Sigurdardottir, Hilma Holm, Ingileif Jonsdottir, Sigurdur Olafsson, Thora Steingrimsdottir, Thorunn Rafnar, Einar S. Bjornsson, Unnur Thorsteinsdottir, Daniel F. Gudbjartsson, Patrick Sulem, Kari Stefansson
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-11 (2018)
Genome-wide association studies have so far identified eight risk loci for gallstone disease. Here, the authors perform meta-analysis in cohorts from Iceland and the UK which reveals further 21 common and low-frequency risk variants that highlight th
Externí odkaz:
https://doaj.org/article/a99d2484d9a048f3ab41a8a1d889ba68
Autor:
Jakub Mieczkowski, April Cook, Sarah K. Bowman, Britta Mueller, Burak H. Alver, Sharmistha Kundu, Aimee M. Deaton, Jennifer A. Urban, Erica Larschan, Peter J. Park, Robert E. Kingston, Michael Y. Tolstorukov
Publikováno v:
Nature Communications, Vol 7, Iss 1, Pp 1-11 (2016)
Nucleosome positioning and chromatin accessibility are important contributors to the regulation of gene expression. Here the authors describe a method that allows the simultaneous measurement of nucleosome occupancy and chromatin accessibility in the
Externí odkaz:
https://doaj.org/article/0238a8cab20c4061987b9392b7b9bc4e
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-1 (2019)
In the original version of this article, there were errors in the labelling of the colours in the key of Figure 2, whereby the labeling of the third and fourth of the four colours was reversed. This has been corrected in both the PDF and HTML version
Externí odkaz:
https://doaj.org/article/4cd049c451234bb5a2dc0f5b2f4f7ffa
Autor:
Keren J. Carss, Aimee M. Deaton, Alberto Del Rio-Espinola, Dorothée Diogo, Mark Fielden, Diptee A. Kulkarni, Jonathan Moggs, Peter Newham, Matthew R. Nelson, Frank D. Sistare, Lucas D. Ward, Jing Yuan
Publikováno v:
Nature Reviews Drug Discovery. 22:145-162
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d65a4e33cccbc51f5c412d2c20da9fed
https://doi.org/10.1038/s41573-022-00561-w
https://doi.org/10.1038/s41573-022-00561-w