Works matching IS 10614036 AND DT 2015 AND VI 47 AND IP 11

Results: 22

A new genomic island.

Published in:: Nature Genetics, 2015, v. 47, n. 11, p. 1221, doi. 10.1038/ng.3436
Publication type:: Article

MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates.

Published in:

Nature Genetics, 2015, v. 47, n. 11, p. 1260, doi. 10.1038/ng.3376

By:

Guimier, Anne;
Liu, Hui;
Noll, Aaron;
El Malti, Rajae;
Smith, Laurie D;
Jimenez, Gina;
Miller, Neil A;
Oufadem, Myriam;
Moreau de Bellaing, Anne;
Saunders, Carol J;
Thiffault, Isabelle;
Bole-Feysot, Christine;
Cooley, Linda D;
Farrow, Emily G;
Masson, Cécile;
Nitschké, Patrick;
Lyonnet, Stanislas;
de Pontual, Loic;
Bonnet, Damien;
Kingsmore, Stephen F

Publication type:

Article

Standardized phenotyping enhances Mendelian disease gene identification.

Published in:

Nature Genetics, 2015, v. 47, n. 11, p. 1222, doi. 10.1038/ng.3425

By:

Veltman, Joris A;
Vissers, Lisenka E L M

Publication type:

Article

The genomic landscape of adult T cell leukemia/lymphoma.

Published in:

Nature Genetics, 2015, v. 47, n. 11, p. 1226, doi. 10.1038/ng.3428

By:

Vicente, Carmen;
Cools, Jan

Publication type:

Article

Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation.

Published in:

Nature Genetics, 2015, v. 47, n. 11, p. 1282, doi. 10.1038/ng.3405

By:

Loh, Marie;
Zhang, Weihua;
Saleheen, Danish;
Wahl, Simone;
Tan, Sian-Tsung;
Scott, William R;
Afzal, Uzma;
Ahluwalia, Tarunveer S;
Esko, Tõnu;
Harris, Sarah E;
Hartiala, Jaana;
Khor, Chiea-Chuen;
Stewart, Alexandre F R;
Wu, Jer-Yuarn;
Zhang, Yi;
Lyytikäinen, Leo-Pekka;
Postmus, Iris;
Raitakari, Olli T;
Traglia, Michela;
Barroso, Inês

Publication type:

Article

Integrated molecular analysis of adult T cell leukemia/lymphoma.

Published in:

Nature Genetics, 2015, v. 47, n. 11, p. 1304, doi. 10.1038/ng.3415

By:

Sanada, Masashi;
Shibata, Tatsuhiro;
Kataoka, Keisuke;
Nagata, Yasunobu;
Sato-Otsubo, Aiko;
Kotani, Shinichi;
Watatani, Yosaku;
Takeda, June;
Suzuki, Hiromichi;
Sato, Yusuke;
Shiozawa, Yusuke;
Yoshizato, Tetsuichi;
Yoshida, Kenichi;
Makishima, Hideki;
Ogawa, Seishi;
Iwanaga, Masako;
Nosaka, Kisato;
Hishizawa, Masakatsu;
Takaori-Kondo, Akifumi;
Itonaga, Hidehiro

Publication type:

Article

Height-reducing variants and selection for short stature in Sardinia.

Published in:

Nature Genetics, 2015, v. 47, n. 11, p. 1352, doi. 10.1038/ng.3403

By:

Sidore, Carlo;
Mulas, Antonella;
Maschio, Andrea;
Floris, Matteo;
Soranzo, Nicole;
Uzzau, Sergio;
Angius, Andrea;
Cucca, Francesco;
Zoledziewska, Magdalena;
Sanna, Serena;
Steri, Maristella;
Busonero, Fabio;
Marongiu, Michele;
Concas, Maria Pina;
Murgia, Federico;
Vaccargiu, Simona;
Tachmazidou, Ioanna;
Zeggini, Eleftheria;
Dedoussis, George;
Jones, Chris

Publication type:

Article

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.

Published in:

Nature Genetics, 2015, v. 47, n. 11, p. 1363, doi. 10.1038/ng.3410

By:

Foulds, Nicola;
Akawi, Nadia;
McRae, Jeremy;
Clayton, Stephen;
Fitzgerald, Tomas W;
Gerety, Sebastian S;
Jones, Wendy D;
King, Daniel;
Lelliott, Chris;
Lord, Jenny;
Piombo, Virginia;
Prigmore, Elena;
Rajan, Diana;
Sifrim, Alejandro;
Swaminathan, Ganesh J;
Wright, Caroline F;
Barrett, Jeffrey C;
Hurles, Matthew E;
Joss, Shelagh;
O'Regan, Mary

Publication type:

Article

DNA methylome analysis in Burkitt and follicular lymphomas identifies differentially methylated regions linked to somatic mutation and transcriptional control.

Published in:

Nature Genetics, 2015, v. 47, n. 11, p. 1316, doi. 10.1038/ng.3413

By:

Kretzmer, Helene;
Bernhart, Stephan H;
Bergmann, Anke K;
Doose, Gero;
Jühling, Frank;
Otto, Christian;
Eberth, Sonja;
Eils, Roland;
Stadler, Peter F;
Hoffmann, Steve;
Wang, Wei;
Hovestadt, Volker;
Picelli, Simone;
Lichter, Peter;
Radlwimmer, Bernhard;
Drexler, Hans G;
MacLeod, Roderick A F;
Flicek, Paul;
Haas, Siegfried;
Hummel, Michael

Publication type:

Article

Genomic landscapes of breast fibroepithelial tumors.

Published in:

Nature Genetics, 2015, v. 47, n. 11, p. 1341, doi. 10.1038/ng.3409

By:

Tan, Jing;
Ong, Choon Kiat;
Lim, Weng Khong;
Ng, Cedric Chuan Young;
Rajasegaran, Vikneswari;
Myint, Swe Swe;
Nagarajan, Sanjanaa;
Thangaraju, Saranya;
Wijaya, Giovani Claresta;
Lim, Jing Quan;
Huang, Dachuan;
Li, Zhimei;
Yong, Wei Sean;
Madhukumar, Preetha;
Ho, Gay Hui;
Tan, Veronique Kiak Mien;
Wong, Chow Yin;
Hartman, Mikael;
Ong, Kong Wee;
Tan, Benita K T

Publication type:

Article

Early enhancer establishment and regulatory locus complexity shape transcriptional programs in hematopoietic differentiation.

Published in:

Nature Genetics, 2015, v. 47, n. 11, p. 1249, doi. 10.1038/ng.3402

By:

González, Alvaro J;
Setty, Manu;
Leslie, Christina S

Publication type:

Article

The androgen receptor cistrome is extensively reprogrammed in human prostate tumorigenesis.

Published in:

Nature Genetics, 2015, v. 47, n. 11, p. 1346, doi. 10.1038/ng.3419

By:

Li, Fugen;
Takeda, David Y;
Cejas, Paloma;
Shivdasani, Ramesh A;
Hahn, William C;
Brown, Myles;
Loda, Massimo;
Long, Henry W;
Freedman, Matthew L;
Pomerantz, Mark M;
Lenci, Romina;
Chonkar, Apurva;
Chabot, Matthew;
Cook, Jennifer;
Kantoff, Philip W;
Vazquez, Francisca;
Bowden, Michaela;
Lis, Rosina

Publication type:

Article

The genomic landscape of juvenile myelomonocytic leukemia.

Published in:

Nature Genetics, 2015, v. 47, n. 11, p. 1326, doi. 10.1038/ng.3400

By:

Toretsky, Jeffrey A;
Olshen, Adam B;
Getz, Gad;
Gruber, Tanja A;
Golub, Todd R;
Stegmaier, Kimberly;
Loh, Mignon L;
Stieglitz, Elliot;
Chang, Tiffany Y;
Gelston, Laura C;
Esquivel, Emilio;
Yu, Ariel;
Archambeault, Sophie L;
Beckman, Kyle;
Cooper, Todd;
Dahl, Gary V;
Emanuel, Peter D;
Liu, Y Lucy;
Fluchel, Mark N;
Goyal, Rakesh K

Publication type:

Article

Partitioning heritability by functional annotation using genome-wide association summary statistics.

Published in:

Nature Genetics, 2015, v. 47, n. 11, p. 1228, doi. 10.1038/ng.3404

By:

Finucane, Hilary K;
Bulik-Sullivan, Brendan;
Trynka, Gosia;
Anttila, Verneri;
Farh, Kyle;
Ripke, Stephan;
Purcell, Shaun;
Okada, Yukinori;
Raychaudhuri, Soumya;
Daly, Mark J;
Neale, Benjamin M;
Price, Alkes L;
Gusev, Alexander;
Loh, Po-Ru;
Lindstrom, Sara;
Reshef, Yakir;
Xu, Han;
Zang, Chongzhi;
Day, Felix R;
Perry, John R B

Publication type:

Article

Population genetic differentiation of height and body mass index across Europe.

Published in:

Nature Genetics, 2015, v. 47, n. 11, p. 1357, doi. 10.1038/ng.3401

By:

Mezzavilla, Massimo;
Esko, Tonu;
Powell, Joseph E;
Kahali, Bratati;
Pers, Tune H;
Vedantam, Sailaja;
Gasparini, Paolo;
Werge, Thomas M;
Boomsma, Dorret I;
Chasman, Daniel I;
de Geus, Eco J C;
Hirschhorn, Joel N;
Hottenga, Jouke Jan;
Ingelsson, Erik;
Loos, Ruth J F;
North, Kari E;
Goddard, Michael E;
Yang, Jian;
Visscher, Peter M;
Robinson, Matthew R

Publication type:

Article

Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels.

Published in:

Nature Genetics, 2015, v. 47, n. 11, p. 1264, doi. 10.1038/ng.3307

By:

Sidore, Carlo;
Busonero, Fabio;
Maschio, Andrea;
Mulas, Antonella;
Porcu, Eleonora;
Pistis, Giorgio;
Angius, Andrea;
Moi, Paolo;
Thein, Swee Lay;
Galanello, Renzo;
Cucca, Francesco;
Danjou, Fabrice;
Zoledziewska, Magdalena;
Steri, Maristella;
Perseu, Lucia;
Pitzalis, Maristella;
Pala, Mauro;
Uda, Manuela;
Sanna, Serena;
Barella, Susanna

Publication type:

Article

An atlas of genetic correlations across human diseases and traits.

Published in:

Nature Genetics, 2015, v. 47, n. 11, p. 1236, doi. 10.1038/ng.3406

By:

Bulik-Sullivan, Brendan;
Anttila, Verneri;
Gusev, Alexander;
Loh, Po-Ru;
Duncan, Laramie;
Robinson, Elise B;
Daly, Mark J;
Price, Alkes L;
Neale, Benjamin M;
Finucane, Hilary K;
Day, Felix R;
Perry, John R B;
Patterson, Nick

Publication type:

Article

Juvenile myelomonocytic leukemia displays mutations in components of the RAS pathway and the PRC2 network.

Published in:

Nature Genetics, 2015, v. 47, n. 11, p. 1334, doi. 10.1038/ng.3420

By:

Caye, Aurélie;
Strullu, Marion;
Cassinat, Bruno;
Gazal, Steven;
Lainey, Elodie;
Lachenaud, Julie;
Vivent, Jocelyne;
Verger, Emmanuelle;
Vidaud, Dominique;
Picard, Capucine;
Dalle, Jean-Hugues;
Baruchel, André;
Chomienne, Christine;
Cavé, Hélène;
Guidez, Fabien;
Méchinaud, Françoise;
Adjaoud, Dalila;
Paillard, Catherine;
Nelken, Brigitte;
Reguerre, Yves

Publication type:

Article

Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers.

Published in:

Nature Genetics, 2015, v. 47, n. 11, p. 1272, doi. 10.1038/ng.3368

By:

Sidore, Carlo;
Busonero, Fabio;
Maschio, Andrea;
Porcu, Eleonora;
Mulas, Antonella;
Pistis, Giorgio;
Berutti, Riccardo;
Gasparini, Paolo;
Soranzo, Nicole;
Angius, Andrea;
Cucca, Francesco;
Naitza, Silvia;
Zoledziewska, Magdalena;
Steri, Maristella;
Danjou, Fabrice;
Pitzalis, Maristella;
Sanna, Serena;
Timpson, Nicholas J;
Toniolo, Daniela;
Malerba, Giovanni

Publication type:

Article

Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair.

Published in:

Nature Genetics, 2015, v. 47, n. 11, p. 1294, doi. 10.1038/ng.3412

By:

Lunetta, Kathryn L;
Pervjakova, Natalia;
Chasman, Daniel I;
Stolk, Lisette;
Finucane, Hilary K;
Bulik-Sullivan, Brendan;
Esko, Tõnu;
He, Chunyan;
Altmaier, Elisabeth;
Huffman, Jennifer E;
Porcu, Eleonora;
Vuckovic, Dragana;
Corre, Tanguy;
Mangino, Massimo;
Smith, Albert V;
Andrulis, Irene L;
Barbieri, Caterina;
Benitez, Javier;
Boerwinkle, Eric;
Bojesen, Stig E

Publication type:

Article

Small island, big genetic discoveries.

Published in:

Nature Genetics, 2015, v. 47, n. 11, p. 1224, doi. 10.1038/ng.3426

By:

Lettre, Guillaume;
Hirschhorn, Joel N

Publication type:

Article

Intron retention is a widespread mechanism of tumor-suppressor inactivation.

Published in:

Nature Genetics, 2015, v. 47, n. 11, p. 1242, doi. 10.1038/ng.3414

By:

Jung, Hyunchul;
Lee, Donghoon;
Lee, Jongkeun;
Park, Donghyun;
Kim, Yeon Jeong;
Park, Woong-Yang;
Hong, Dongwan;
Park, Peter J;
Lee, Eunjung

Publication type:

Article