Zobrazeno 1 - 10
of 5 325
pro vyhledávání: '"F. WRIGHT"'
Publikováno v:
Revista de Gastroenterología de México, Vol 87, Iss 3, Pp 396-397 (2022)
Externí odkaz:
https://doaj.org/article/4bf999abfdcb4353b433bec24301de1f
Publikováno v:
Revista de Gastroenterología de México (English Edition), Vol 87, Iss 3, Pp 396-397 (2022)
Externí odkaz:
https://doaj.org/article/647f4565820d4d229921d5ef3e70f7df
Autor:
T. Michael Yates, Morad Ansari, Louise Thompson, Sarah E. Hunt, Elena Cibrian Uhalte, Rachel J. Hobson, Joseph A. Marsh, Caroline F. Wright, Helen V. Firth
Publikováno v:
Genome Medicine, Vol 16, Iss 1, Pp 1-8 (2024)
Abstract Genetically determined disorders are highly heterogenous in clinical presentation and underlying molecular mechanism. The evidence underpinning these conditions in the peer-reviewed literature requires robust critical evaluation for diagnost
Externí odkaz:
https://doaj.org/article/ee6d9b1086e44976b7f5f6692a8193e2
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
Autor:
Xiaolei Zhang, Pantazis I. Theotokis, Nicholas Li, the SHaRe Investigators, Caroline F. Wright, Kaitlin E. Samocha, Nicola Whiffin, James S. Ware
Publikováno v:
Genome Medicine, Vol 16, Iss 1, Pp 1-12 (2024)
Abstract Background One of the major hurdles in clinical genetics is interpreting the clinical consequences associated with germline missense variants in humans. Recent significant advances have leveraged natural variation observed in large-scale hum
Externí odkaz:
https://doaj.org/article/696f2ae58f374123a9cf5ed1249bfe43
Publikováno v:
BMC Neuroscience, Vol 25, Iss 1, Pp 1-12 (2024)
Abstract Background Most vocal learning species exhibit an early critical period during which their vocal control neural circuitry facilitates the acquisition of new vocalizations. Some taxa, most notably humans and parrots, retain some degree of neu
Externí odkaz:
https://doaj.org/article/5964788841af4ca18edfae6a02c17d0a
Publikováno v:
PeerJ, Vol 12, p e18169 (2024)
Background The superorder Forcipulatacea is a major clade of sea stars with approximately 400 extant species across three orders (Forcipulatida, Brisingida, Zorocallida). Over the past century, the systematics of Forcipulatacea have undergone multipl
Externí odkaz:
https://doaj.org/article/1be6e1b0cd49412da369564da4ef675c
Autor:
Han Sol Kim, Myung Hyun Noh, Evan M. White, Michael V. Kandefer, Austin F. Wright, Debika Datta, Hyun Gyu Lim, Ethan Smiggs, Jason J. Locklin, Md Arifur Rahman, Adam M. Feist, Jonathan K. Pokorski
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-15 (2024)
Abstract The field of hybrid engineered living materials seeks to pair living organisms with synthetic materials to generate biocomposite materials with augmented function since living systems can provide highly-programmable and complex behavior. Eng
Externí odkaz:
https://doaj.org/article/0e980c63cfbb48c796433823e3880876
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:
Emilie M. Wigdor, Kaitlin E. Samocha, Ruth Y. Eberhardt, V. Kartik Chundru, Helen V. Firth, Caroline F. Wright, Matthew E. Hurles, Hilary C. Martin
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-11 (2024)
Abstract Recent work has revealed an important role for rare, incompletely penetrant inherited coding variants in neurodevelopmental disorders (NDDs). Additionally, we have previously shown that common variants contribute to risk for rare NDDs. Here,
Externí odkaz:
https://doaj.org/article/c0f75227db5d4c79801f5124d7f09ecb