Works matching IS 10614036 AND DT 2015 AND VI 47 AND IP 8

Results: 25

Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder.

Published in:

Nature Genetics, 2015, v. 47, n. 8, p. 926, doi. 10.1038/ng.3354

By:

Abrams, Alexander J;
Ahmed, Zubair M;
Antonellis, Anthony;
Zimmerman, Holly H;
Abdul-Rahman, Omar A;
Yang, Yaping;
Downes, Susan M;
Fontanesi, Flavia;
Barrientos, Antonio;
Németh, Andrea H;
Hufnagel, Robert B;
Sund, Kristen L;
Wang, Xinjian;
Krueger, Laura A;
Peng, Yanyan;
Prada, Carlos E;
Prows, Cynthia A;
Schorry, Elizabeth K;
Huang, Taosheng;
Rebelo, Adriana

Publication type:

Article

Counting copy number and calories.

Published in:

Nature Genetics, 2015, v. 47, n. 8, p. 852, doi. 10.1038/ng.3365

By:

White, Stefan

Publication type:

Article

Marshaling the Variome.

Published in:: Nature Genetics, 2015, v. 47, n. 8, p. 849, doi. 10.1038/ng.3377
Publication type:: Article

Pediatric cancer genomics, a play rather than a portrait.

Published in:

Nature Genetics, 2015, v. 47, n. 8, p. 851, doi. 10.1038/ng.3366

By:

Ramaswamy, Vijay;
Taylor, Michael D

Publication type:

Article

Genome-wide significant risk associations for mucinous ovarian carcinoma.

Published in:: Nature Genetics, 2015, v. 47, n. 8, p. 888, doi. 10.1038/ng.3336
Publication type:: Article

Loss-of-function variants in ATM confer risk of gastric cancer.

Published in:

Nature Genetics, 2015, v. 47, n. 8, p. 906, doi. 10.1038/ng.3342

By:

Helgason, Hannes;
Gudbjartsson, Daniel F;
Rafnar, Thorunn;
Sigurdsson, Asgeir;
Stacey, Simon N;
Jonasdottir, Adalbjorg;
le Roux, Louise;
Gudmundsson, Julius;
Johannsdottir, Hrefna;
Oddsson, Asmundur;
Gylfason, Arnaldur;
Magnusson, Olafur T;
Masson, Gisli;
Sulem, Patrick;
Olafsdottir, Halla S;
Alexiusdottir, Kristin;
Jonasson, Jon G;
Tryggvadottir, Laufey;
Haraldsson, Asgeir;
Jonsson, Thorvaldur

Publication type:

Article

Consistent in-frame internal tandem duplications of BCOR characterize clear cell sarcoma of the kidney.

Published in:

Nature Genetics, 2015, v. 47, n. 8, p. 861, doi. 10.1038/ng.3338

By:

Ueno-Yokohata, Hitomi;
Okita, Hajime;
Nakasato, Keiko;
Akimoto, Shingo;
Kiyokawa, Nobutaka;
Hata, Jun-ichi;
Koshinaga, Tsugumichi;
Fukuzawa, Masahiro

Publication type:

Article

Copy number variation at the GL7 locus contributes to grain size diversity in rice.

Published in:

Nature Genetics, 2015, v. 47, n. 8, p. 944, doi. 10.1038/ng.3346

By:

Wang, Yuexing;
Xiong, Guosheng;
Hu, Jiang;
Xu, Jie;
Fang, Yunxia;
Xu, Erbo;
Xu, Jing;
Ye, Weijun;
Chen, Hongqi;
Zhu, Xudong;
Jiang, Liang;
Yu, Hong;
Meng, Xiangbing;
Jing, Yanhui;
Wang, Yonghong;
Li, Jiayang;
Zeng, Longjun;
Liu, Ruifang;
Qian, Qian

Publication type:

Article

Mutational dynamics between primary and relapse neuroblastomas.

Published in:

Nature Genetics, 2015, v. 47, n. 8, p. 872, doi. 10.1038/ng.3349

By:

Schramm, Alexander;
Althoff, Kristina;
Mahlow, Ellen;
Odersky, Andrea;
Henssen, Anton G;
Stephan, Harald;
De Preter, Katleen;
Speleman, Frank;
Plass, Christoph;
Lee, Sangkyun;
Lode, Holger N;
Henrich, Kai-Oliver;
Gartlgruber, Moritz;
Westermann, Frank;
Rahmann, Sven;
Fischer, Matthias;
Eggert, Angelika;
Schulte, Johannes H;
Köster, Johannes;
Beisser, Daniela

Publication type:

Article

The OsSPL16-GW7 regulatory module determines grain shape and simultaneously improves rice yield and grain quality.

Published in:

Nature Genetics, 2015, v. 47, n. 8, p. 949, doi. 10.1038/ng.3352

By:

Wang, Shaokui;
Li, Shan;
Liu, Qian;
Wu, Kun;
Zhang, Jianqing;
Wang, Shuansuo;
Wang, Yi;
Chen, Xiangbin;
Zhang, Yi;
Gao, Caixia;
Fu, Xiangdong;
Wang, Feng;
Huang, Haixiang

Publication type:

Article

Rare A2ML1 variants confer susceptibility to otitis media.

Published in:

Nature Genetics, 2015, v. 47, n. 8, p. 917, doi. 10.1038/ng.3347

By:

Santos-Cortez, Regie Lyn P;
Wang, Xin;
Acharya, Anushree;
Abbe, Izoduwa;
Li, Biao;
Wang, Gao T;
Leal, Suzanne M;
Patel, Janak A;
Chonmaitree, Tasnee;
Sale, Michele M;
Chiong, Charlotte M;
Reyes-Quintos, Ma Rina T;
Llanes, Erasmo Gonzalo D V;
Gloria-Cruz, Teresa Luisa I;
Chan, Abner L;
Abes, Generoso T;
Tantoco, Ma Leah C;
Giese, Arnaud P;
Riazuddin, Saima;
Ahmed, Zubair M

Publication type:

Article

The support of human genetic evidence for approved drug indications.

Published in:

Nature Genetics, 2015, v. 47, n. 8, p. 856, doi. 10.1038/ng.3314

By:

Nelson, Matthew R;
Painter, Jeffery L;
Shen, Judong;
Tipney, Hannah;
Whittaker, John C;
Sanseau, Philippe;
Nicoletti, Paola;
Shen, Yufeng;
Floratos, Aris;
Sham, Pak Chung;
Li, Mulin Jun;
Wang, Junwen;
Cardon, Lon R

Publication type:

Article

A method to predict the impact of regulatory variants from DNA sequence.

Published in:

Nature Genetics, 2015, v. 47, n. 8, p. 955, doi. 10.1038/ng.3331

By:

Lee, Dongwon;
Gorkin, David U;
Baker, Maggie;
McCallion, Andrew S;
Strober, Benjamin J;
Asoni, Alessandro L;
Beer, Michael A

Publication type:

Article

Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception.

Published in:

Nature Genetics, 2015, v. 47, n. 8, p. 962, doi. 10.1038/ng0815-962b

By:

Chen, Ya-Chun;
Auer-Grumbach, Michaela;
Matsukawa, Shinya;
Zitzelsberger, Manuela;
Themistocleous, Andreas C;
Strom, Tim M;
Samara, Chrysanthi;
Moore, Adrian W;
Cho, Lily Ting-Yin;
Young, Gareth T;
Weiss, Caecilia;
Schabhüttl, Maria;
Stucka, Rolf;
Schmid, Annina B;
Parman, Yesim;
Graul-Neumann, Luitgard;
Heinritz, Wolfram;
Passarge, Eberhard;
Watson, Rosemarie M;
Hertz, Jens Michael

Publication type:

Article

Richard Graham Hay Cotton 1940-2015.

Published in:

Nature Genetics, 2015, v. 47, n. 8, p. 850, doi. 10.1038/ng.3369

By:

Smith, Tim;
Taylor, Graham

Publication type:

Article

Common variation at 2p13.3, 3q29, 7p13 and 17q25.1 associated with susceptibility to pancreatic cancer.

Published in:

Nature Genetics, 2015, v. 47, n. 8, p. 911, doi. 10.1038/ng.3341

By:

Childs, Erica J;
Scelo, Ghislaine;
Brennan, Paul;
Amundadottir, Laufey T;
Chanock, Stephen J;
Hoover, Robert N;
Bamlet, William R;
Chaffee, Kari G;
Oberg, Ann L;
Petersen, Gloria M;
Bijlsma, Maarten F;
Brenner, Hermann;
Bueno-de-Mesquita, H Bas;
Canzian, Federico;
Rizzato, Cosmeri;
Capurso, Gabriele;
Cavestro, Giulia M;
Cleary, Sean P;
Mocci, Evelina;
Blackford, Amanda

Publication type:

Article

Relapsed neuroblastomas show frequent RAS-MAPK pathway mutations.

Published in:

Nature Genetics, 2015, v. 47, n. 8, p. 864, doi. 10.1038/ng.3333

By:

Eleveld, Thomas F;
Koster, Jan;
Schild, Linda;
Zwijnenburg, Danny A;
Ebus, Marli E;
van Sluis, Peter;
Hakkert, Anne;
Westerhout, Ellen M;
Dolman, M Emmy M;
Versteeg, Rogier;
Molenaar, Jan J;
Hart, Lori S;
Rader, JulieAnn;
Wei, Jun S;
Zhang, Shile;
Khan, Javed;
Naranjo, Arlene;
Gastier-Foster, Julie M;
Asgharzadeh, Shahab;
Smith, Malcolm A

Publication type:

Article

GmHs1-1, encoding a calcineurin-like protein, controls hard-seededness in soybean.

Published in:

Nature Genetics, 2015, v. 47, n. 8, p. 939, doi. 10.1038/ng.3339

By:

Sun, Lianjun;
Miao, Zhenyan;
Zhang, Dajian;
Zhao, Meixia;
Cai, Chunmei;
Wu, Yanyan;
Zhang, Xueling;
Swarm, Stephen A;
Zhou, Liwen;
Zhang, Zhanyuan J;
Nelson, Randall L;
Ma, Jianxin

Publication type:

Article

Running spell-check to identify regulatory variants.

Published in:

Nature Genetics, 2015, v. 47, n. 8, p. 853, doi. 10.1038/ng.3364

By:

Kircher, Martin;
Shendure, Jay

Publication type:

Article

Additive and interaction effects at three amino acid positions in HLA-DQ and HLA-DR molecules drive type 1 diabetes risk.

Published in:

Nature Genetics, 2015, v. 47, n. 8, p. 898, doi. 10.1038/ng.3353

By:

Hu, Xinli;
Deutsch, Aaron J;
Lenz, Tobias L;
Onengut-Gumuscu, Suna;
Chen, Wei-Min;
Rich, Stephen S;
Han, Buhm;
Howson, Joanna M M;
Todd, John A;
de Bakker, Paul I W;
Raychaudhuri, Soumya

Publication type:

Article

Erratum: The draft genome of the grass carp (Ctenopharyngodon idellus) provides insights into its evolution and vegetarian adaptation.

Published in:

Nature Genetics, 2015, v. 47, n. 8, p. 962, doi. 10.1038/ng0815-962a

By:

Wang, Yaping;
Lu, Ying;
Zhang, Yong;
Ning, Zemin;
Li, Yan;
Zhao, Qiang;
Lu, Hengyun;
Huang, Rong;
Xia, Xiaoqin;
Feng, Qi;
Liang, Xufang;
Liu, Kunyan;
Zhang, Lei;
Lu, Tingting;
Huang, Tao;
Fan, Danlin;
Weng, Qijun;
Zhu, Chuanrang;
Lu, Yiqi;
Li, Wenjun

Publication type:

Article

Keratin-dependent regulation of Aire and gene expression in skin tumor keratinocytes.

Published in:

Nature Genetics, 2015, v. 47, n. 8, p. 933, doi. 10.1038/ng.3355

By:

Hobbs, Ryan P;
DePianto, Daryle J;
Jacob, Justin T;
Han, Minerva C;
Chung, Byung-Min;
Batazzi, Adriana S;
Poll, Brian G;
Guo, Yajuan;
Han, Jingnan;
Zheng, Wenxin;
Ong, SuFey;
Taube, Janis M;
Čiháková, Daniela;
Wan, Fengyi;
Coulombe, Pierre A

Publication type:

Article

Structural forms of the human amylase locus and their relationships to SNPs, haplotypes and obesity.

Published in:

Nature Genetics, 2015, v. 47, n. 8, p. 921, doi. 10.1038/ng.3340

By:

Usher, Christina L;
Pato, Carlos N;
Pato, Michele T;
McCarthy, Mark I;
Altshuler, David M;
Handsaker, Robert E;
McCarroll, Steven A;
Esko, Tõnu;
Tuke, Marcus A;
Weedon, Michael N;
Frayling, Timothy M;
Hastie, Alex R;
Cao, Han;
Moon, Jennifer E;
Hirschhorn, Joel N;
Kashin, Seva;
Fuchsberger, Christian;
Boehnke, Michael;
Metspalu, Andres

Publication type:

Article

An in vivo screen identifies ependymoma oncogenes and tumor-suppressor genes.

Published in:

Nature Genetics, 2015, v. 47, n. 8, p. 878, doi. 10.1038/ng.3323

By:

Mohankumar, Kumarasamypet M;
Currle, David S;
White, Elsie;
Boulos, Nidal;
Dapper, Jason;
Eden, Christopher;
Nimmervoll, Birgit;
Thiruvenkatam, Radhika;
Connelly, Michele;
Kranenburg, Tanya A;
Neale, Geoffrey;
Olsen, Scott;
Wang, Yong-Dong;
Finkelstein, David;
Wright, Karen;
Gupta, Kirti;
Ellison, David W;
Thomas, Arzu Onar;
Gilbertson, Richard J

Publication type:

Article

Corrigendum: Statistical colocalization of genetic risk variants for related autoimmune diseases in the context of common controls.

Published in:

Nature Genetics, 2015, v. 47, n. 8, p. 962, doi. 10.1038/ng0815-962c

By:

Fortune, Mary D;
Guo, Hui;
Burren, Oliver;
Schofield, Ellen;
Walker, Neil M;
Ban, Maria;
Sawcer, Stephen J;
Bowes, John;
Worthington, Jane;
Barton, Anne;
Eyre, Steve;
Todd, John A;
Wallace, Chris

Publication type:

Article