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Refinado por: assunto: Genetic Variation remover Base de dados/Biblioteca: Gale Academic OneFile remover assunto: Mutation remover
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De novo variants in neurodevelopmental disorders with epilepsy
De novo variants in neurodevelopmental disorders with epilepsy
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De novo variants in neurodevelopmental disorders with epilepsy

Heyne, Henrike O ; Singh, Tarjinder ; Stamberger, Hannah ; Abou Jamra, Rami ; Caglayan, Hande ; Craiu, Dana ; De Jonghe, Peter ; Guerrini, Renzo ; Helbig, Katherine L ; Koeleman, Bobby P C ; Kosmicki, Jack A ; Linnankivi, Tarja ; May, Patrick ; Muhle, Hiltrud ; Møller, Rikke S ; Neubauer, Bernd A ; Palotie, Aarno ; Pendziwiat, Manuela ; Striano, Pasquale ; Tang, Sha ; Wu, Sitao ; Poduri, Annapurna ; Weber, Yvonne G ; Weckhuysen, Sarah ; Sisodiya, Sanjay M ; Daly, Mark J ; Helbig, Ingo ; Lal, Dennis ; Lemke, Johannes R

Nature genetics, 2018-07, Vol.50 (7), p.1048-1053 [Periódico revisado por pares]

United States: Nature Publishing Group

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2
Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity
Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity
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Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity

Harper, Andrew R ; Goel, Anuj ; Grace, Christopher ; Thomson, Kate L ; Petersen, Steffen E ; Xu, Xiao ; Waring, Adam ; Ormondroyd, Elizabeth ; Kramer, Christopher M ; Ho, Carolyn Y ; Neubauer, Stefan ; Tadros, Rafik ; Ware, James S ; Bezzina, Connie R ; Farrall, Martin ; Watkins, Hugh

Nature genetics, 2021-02, Vol.53 (2), p.135-142 [Periódico revisado por pares]

United States: Nature Publishing Group

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3
Integrating genetic and non-genetic determinants of cancer evolution by single-cell multi-omics
Integrating genetic and non-genetic determinants of cancer evolution by single-cell multi-omics
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Integrating genetic and non-genetic determinants of cancer evolution by single-cell multi-omics

Nam, Anna S ; Chaligne, Ronan ; Landau, Dan A

Nature reviews. Genetics, 2021-01, Vol.22 (1), p.3-18 [Periódico revisado por pares]

England: Nature Publishing Group

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4
Extensive intraspecific gene order and gene structural variations between Mo17 and other maize genomes
Extensive intraspecific gene order and gene structural variations between Mo17 and other maize genomes
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Extensive intraspecific gene order and gene structural variations between Mo17 and other maize genomes

Sun, Silong ; Zhou, Yingsi ; Chen, Jian ; Shi, Junpeng ; Zhao, Haiming ; Zhao, Hainan ; Song, Weibin ; Zhang, Mei ; Cui, Yang ; Dong, Xiaomei ; Liu, Han ; Ma, Xuxu ; Jiao, Yinping ; Wang, Bo ; Wei, Xuehong ; Stein, Joshua C ; Glaubitz, Jeff C ; Lu, Fei ; Yu, Guoliang ; Liang, Chengzhi ; Fengler, Kevin ; Li, Bailin ; Rafalski, Antoni ; Schnable, Patrick S ; Ware, Doreen H ; Buckler, Edward S ; Lai, Jinsheng

Nature genetics, 2018-09, Vol.50 (9), p.1289-1295 [Periódico revisado por pares]

United States: Nature Publishing Group

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5
An integrated map of structural variation in 2,504 human genomes
An integrated map of structural variation in 2,504 human genomes
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An integrated map of structural variation in 2,504 human genomes

Sudmant, Peter H ; Rausch, Tobias ; Gardner, Eugene J ; Handsaker, Robert E ; Abyzov, Alexej ; Huddleston, John ; Zhang, Yan ; Ye, Kai ; Jun, Goo ; Fritz, Markus Hsi-Yang ; Konkel, Miriam K ; Malhotra, Ankit ; Stütz, Adrian M ; Shi, Xinghua ; Casale, Francesco Paolo ; Chen, Jieming ; Hormozdiari, Fereydoun ; Dayama, Gargi ; Chen, Ken ; Malig, Maika ; Chaisson, Mark J P ; Walter, Klaudia ; Meiers, Sascha ; Kashin, Seva ; Garrison, Erik ; Auton, Adam ; Lam, Hugo Y K ; Mu, Xinmeng Jasmine ; Alkan, Can ; Antaki, Danny ; Bae, Taejeong ; Cerveira, Eliza ; Chines, Peter ; Chong, Zechen ; Clarke, Laura ; Dal, Elif ; Ding, Li ; Emery, Sarah ; Fan, Xian ; Gujral, Madhusudan ; Kahveci, Fatma ; Kidd, Jeffrey M ; Kong, Yu ; Lameijer, Eric-Wubbo ; McCarthy, Shane ; Flicek, Paul ; Gibbs, Richard A ; Marth, Gabor ; Mason, Christopher E ; Menelaou, Androniki ; Muzny, Donna M ; Nelson, Bradley J ; Noor, Amina ; Parrish, Nicholas F ; Pendleton, Matthew ; Quitadamo, Andrew ; Raeder, Benjamin ; Schadt, Eric E ; Romanovitch, Mallory ; Schlattl, Andreas ; Sebra, Robert ; Shabalin, Andrey A ; Untergasser, Andreas ; Walker, Jerilyn A ; Wang, Min ; Yu, Fuli ; Zhang, Chengsheng ; Zhang, Jing ; Zheng-Bradley, Xiangqun ; Zhou, Wanding ; Zichner, Thomas ; Sebat, Jonathan ; Batzer, Mark A ; McCarroll, Steven A ; Mills, Ryan E ; Gerstein, Mark B ; Bashir, Ali ; Stegle, Oliver ; Devine, Scott E ; Lee, Charles ; Eichler, Evan E ; Korbel, Jan O

Nature (London), 2015-10, Vol.526 (7571), p.75-81 [Periódico revisado por pares]

England: Nature Publishing Group

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6
The UK10K project identifies rare variants in health and disease
The UK10K project identifies rare variants in health and disease
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The UK10K project identifies rare variants in health and disease

Walter, Klaudia ; Min, Josine L ; Huang, Jie ; Crooks, Lucy ; Memari, Yasin ; McCarthy, Shane ; Perry, John R B ; Xu, ChangJiang ; Futema, Marta ; Lawson, Daniel ; Iotchkova, Valentina ; Schiffels, Stephan ; Hendricks, Audrey E ; Danecek, Petr ; Li, Rui ; Floyd, James ; Wain, Louise V ; Barroso, Inês ; Humphries, Steve E ; Hurles, Matthew E ; Zeggini, Eleftheria ; Barrett, Jeffrey C ; Plagnol, Vincent ; Richards, J Brent ; Greenwood, Celia M T ; Timpson, Nicholas J ; Durbin, Richard ; Soranzo, Nicole

Nature (London), 2015-10, Vol.526 (7571), p.82-90 [Periódico revisado por pares]

England: Nature Publishing Group

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7
Common genetic variants contribute to risk of rare severe neurodevelopmental disorders
Common genetic variants contribute to risk of rare severe neurodevelopmental disorders
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Common genetic variants contribute to risk of rare severe neurodevelopmental disorders

Niemi, Mari E K ; Martin, Hilary C ; Rice, Daniel L ; Gallone, Giuseppe ; Gordon, Scott ; Kelemen, Martin ; McAloney, Kerrie ; McRae, Jeremy ; Radford, Elizabeth J ; Yu, Sui ; Gecz, Jozef ; Martin, Nicholas G ; Wright, Caroline F ; Fitzpatrick, David R ; Firth, Helen V ; Hurles, Matthew E ; Barrett, Jeffrey C

Nature (London), 2018-10, Vol.562 (7726), p.268-271 [Periódico revisado por pares]

England: Nature Publishing Group

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8
Deleterious variation shapes the genomic landscape of introgression
Deleterious variation shapes the genomic landscape of introgression
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Deleterious variation shapes the genomic landscape of introgression

Kim, Bernard Y ; Huber, Christian D ; Lohmueller, Kirk E Schierup, Mikkel H.

PLoS genetics, 2018-10, Vol.14 (10), p.e1007741-e1007741 [Periódico revisado por pares]

United States: Public Library of Science

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9
Deep learning sequence-based ab initio prediction of variant effects on expression and disease risk
Deep learning sequence-based ab initio prediction of variant effects on expression and disease risk
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Deep learning sequence-based ab initio prediction of variant effects on expression and disease risk

Zhou, Jian ; Theesfeld, Chandra L ; Yao, Kevin ; Chen, Kathleen M ; Wong, Aaron K ; Troyanskaya, Olga G

Nature genetics, 2018-08, Vol.50 (8), p.1171-1179 [Periódico revisado por pares]

United States: Nature Publishing Group

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10
Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program
Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program
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Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program

Klarin, Derek ; Damrauer, Scott M ; Cho, Kelly ; Sun, Yan V ; Teslovich, Tanya M ; Honerlaw, Jacqueline ; Gagnon, David R ; DuVall, Scott L ; Li, Jin ; Peloso, Gina M ; Chaffin, Mark ; Small, Aeron M ; Huang, Jie ; Tang, Hua ; Lynch, Julie A ; Ho, Yuk-Lam ; Liu, Dajiang J ; Emdin, Connor A ; Li, Alexander H ; Huffman, Jennifer E ; Lee, Jennifer S ; Natarajan, Pradeep ; Chowdhury, Rajiv ; Saleheen, Danish ; Vujkovic, Marijana ; Baras, Aris ; Pyarajan, Saiju ; Di Angelantonio, Emanuele ; Neale, Benjamin M ; Naheed, Aliya ; Khera, Amit V ; Danesh, John ; Chang, Kyong-Mi ; Abecasis, Gonçalo ; Willer, Cristen ; Dewey, Frederick E ; Carey, David J ; Concato, John ; Gaziano, J Michael ; O'Donnell, Christopher J ; Tsao, Philip S ; Kathiresan, Sekar ; Rader, Daniel J ; Wilson, Peter W F ; Assimes, Themistocles L

Nature genetics, 2018-11, Vol.50 (11), p.1514-1523 [Periódico revisado por pares]

United States: Nature Publishing Group

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