Works matching IS 10614036 AND DT 2013 AND VI 45 AND IP 3

Results: 27

Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis.

Published in:

Nature Genetics, 2013, v. 45, n. 3, p. 304, doi. 10.1038/ng.2531

By:

Sharma, Vikram P;
Fenwick, Aimée L;
Brockop, Mia S;
McGowan, Simon J;
Goos, Jacqueline A C;
Hoogeboom, A Jeannette M;
Brady, Angela F;
Jeelani, Nu Owase;
Lynch, Sally Ann;
Mulliken, John B;
Murray, Dylan J;
Phipps, Julie M;
Sweeney, Elizabeth;
Tomkins, Susan E;
Wilson, Louise C;
Bennett, Sophia;
Cornall, Richard J;
Broxholme, John;
Kanapin, Alexander;
Johnson, David

Publication type:

Article

Pigeon genome.

Published in:

Nature Genetics, 2013, v. 45, n. 3, p. 233, doi. 10.1038/ng.2575

By:

Bahcall, Orli

Publication type:

Article

Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing.

Published in:

Nature Genetics, 2013, v. 45, n. 3, p. 299, doi. 10.1038/ng.2543

By:

Kirby, Andrew;
Gnirke, Andreas;
Jaffe, David B;
Barešová, Veronika;
Pochet, Nathalie;
Blumenstiel, Brendan;
Ye, Chun;
Aird, Daniel;
Stevens, Christine;
Robinson, James T;
Cabili, Moran N;
Gat-Viks, Irit;
Kelliher, Edward;
Daza, Riza;
DeFelice, Matthew;
Hůlková, Helena;
Sovová, Jana;
Vylet'al, Petr;
Antignac, Corinne;
Guttman, Mitchell

Publication type:

Article

Interpreting the role of de novo protein-coding mutations in neuropsychiatric disease.

Published in:

Nature Genetics, 2013, v. 45, n. 3, p. 234, doi. 10.1038/ng.2555

By:

Gratten, Jacob;
Visscher, Peter M;
Mowry, Bryan J;
Wray, Naomi R

Publication type:

Article

RNF212 marks the spot.

Published in:

Nature Genetics, 2013, v. 45, n. 3, p. 228, doi. 10.1038/ng.2559

By:

Lake, Cathleen M;
Hawley, R Scott

Publication type:

Article

Oxytricha macronuclear genome.

Published in:

Nature Genetics, 2013, v. 45, n. 3, p. 233, doi. 10.1038/ng.2573

By:

Feliciano, Pamela

Publication type:

Article

Quantitative variation in maize kernel row number is controlled by the FASCIATED EAR2 locus.

Published in:

Nature Genetics, 2013, v. 45, n. 3, p. 334, doi. 10.1038/ng.2534

By:

Bommert, Peter;
Nagasawa, Namiko Satoh;
Jackson, David

Publication type:

Article

Oomycete pathogens encode RNA silencing suppressors.

Published in:

Nature Genetics, 2013, v. 45, n. 3, p. 330, doi. 10.1038/ng.2525

By:

Qiao, Yongli;
Liu, Lin;
Xiong, Qin;
Flores, Cristina;
Wong, James;
Shi, Jinxia;
Wang, Xianbing;
Liu, Xigang;
Xiang, Qijun;
Jiang, Shushu;
Zhang, Fuchun;
Wang, Yuanchao;
Judelson, Howard S;
Chen, Xuemei;
Ma, Wenbo

Publication type:

Article

Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.

Published in:

Nature Genetics, 2013, v. 45, n. 3, p. 314, doi. 10.1038/ng.2554

By:

Verhoeven, Virginie J M;
Hysi, Pirro G;
Wojciechowski, Robert;
Fan, Qiao;
Guggenheim, Jeremy A;
Höhn, René;
MacGregor, Stuart;
Hewitt, Alex W;
Nag, Abhishek;
Cheng, Ching-Yu;
Yonova-Doing, Ekaterina;
Zhou, Xin;
Ikram, M Kamran;
Buitendijk, Gabriëlle H S;
McMahon, George;
Kemp, John P;
Pourcain, Beate St;
Simpson, Claire L;
Mäkelä, Kari-Matti;
Lehtimäki, Terho

Publication type:

Article

Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas.

Published in:

Nature Genetics, 2013, v. 45, n. 3, p. 295, doi. 10.1038/ng.2552

By:

Smith, Miriam J;
O'Sullivan, James;
Bhaskar, Sanjeev S;
Hadfield, Kristen D;
Poke, Gemma;
Caird, John;
Sharif, Saba;
Eccles, Diana;
Fitzpatrick, David;
Rawluk, Daniel;
du Plessis, Daniel;
Newman, William G;
Evans, D Gareth

Publication type:

Article

RNF212 is a dosage-sensitive regulator of crossing-over during mammalian meiosis.

Published in:

Nature Genetics, 2013, v. 45, n. 3, p. 269, doi. 10.1038/ng.2541

By:

Reynolds, April;
Qiao, Huanyu;
Yang, Ye;
Chen, Jefferson K;
Jackson, Neil;
Biswas, Kajal;
Holloway, J Kim;
Baudat, Frédéric;
de Massy, Bernard;
Wang, Jeremy;
Höög, Christer;
Cohen, Paula E;
Hunter, Neil

Publication type:

Article

The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans.

Published in:

Nature Genetics, 2013, v. 45, n. 3, p. 262, doi. 10.1038/ng.2533

By:

Wirschell, Maureen;
Olbrich, Heike;
Werner, Claudius;
Tritschler, Douglas;
Bower, Raqual;
Sale, Winfield S;
Loges, Niki T;
Pennekamp, Petra;
Lindberg, Sven;
Stenram, Unne;
Carlén, Birgitta;
Horak, Elisabeth;
Köhler, Gabriele;
Nürnberg, Peter;
Nürnberg, Gudrun;
Porter, Mary E;
Omran, Heymut

Publication type:

Article

Recurrent mutations in meningiomas.

Published in:

Nature Genetics, 2013, v. 45, n. 3, p. 233, doi. 10.1038/ng.2576

By:

Vogan, Kyle

Publication type:

Article

Filling in the gaps in cranial suture biology.

Published in:

Nature Genetics, 2013, v. 45, n. 3, p. 231, doi. 10.1038/ng.2557

By:

FitzPatrick, David R

Publication type:

Article

TET function in primordial germ cells.

Published in:

Nature Genetics, 2013, v. 45, n. 3, p. 233, doi. 10.1038/ng.2577

By:

Niemitz, Emily

Publication type:

Article

Recurrent somatic mutation of FAT1 in multiple human cancers leads to aberrant Wnt activation.

Published in:

Nature Genetics, 2013, v. 45, n. 3, p. 253, doi. 10.1038/ng.2538

By:

Morris, Luc G T;
Kaufman, Andrew M;
Gong, Yongxing;
Ramaswami, Deepa;
Walsh, Logan A;
Turcan, Şevin;
Eng, Stephanie;
Kannan, Kasthuri;
Zou, Yilong;
Peng, Luke;
Banuchi, Victoria E;
Paty, Phillip;
Zeng, Zhaoshi;
Vakiani, Efsevia;
Solit, David;
Singh, Bhuvanesh;
Ganly, Ian;
Liau, Linda;
Cloughesy, Timothy C;
Mischel, Paul S

Publication type:

Article

The genetic landscape of high-risk neuroblastoma.

Published in:

Nature Genetics, 2013, v. 45, n. 3, p. 279, doi. 10.1038/ng.2529

By:

Pugh, Trevor J;
Morozova, Olena;
Attiyeh, Edward F;
Asgharzadeh, Shahab;
Wei, Jun S;
Auclair, Daniel;
Carter, Scott L;
Cibulskis, Kristian;
Hanna, Megan;
Kiezun, Adam;
Kim, Jaegil;
Lawrence, Michael S;
Lichenstein, Lee;
McKenna, Aaron;
Pedamallu, Chandra Sekhar;
Ramos, Alex H;
Shefler, Erica;
Sivachenko, Andrey;
Sougnez, Carrie;
Stewart, Chip

Publication type:

Article

Endogenous retroviruses function as species-specific enhancer elements in the placenta.

Published in:

Nature Genetics, 2013, v. 45, n. 3, p. 325, doi. 10.1038/ng.2553

By:

Chuong, Edward B;
Rumi, M A Karim;
Soares, Michael J;
Baker, Julie C

Publication type:

Article

Genomic sequencing of meningiomas identifies oncogenic SMO and AKT1 mutations.

Published in:

Nature Genetics, 2013, v. 45, n. 3, p. 285, doi. 10.1038/ng.2526

By:

Brastianos, Priscilla K;
Horowitz, Peleg M;
Santagata, Sandro;
Jones, Robert T;
McKenna, Aaron;
Getz, Gad;
Ligon, Keith L;
Palescandolo, Emanuele;
Van Hummelen, Paul;
Ducar, Matthew D;
Raza, Alina;
Sunkavalli, Ashwini;
MacConaill, Laura E;
Stemmer-Rachamimov, Anat O;
Louis, David N;
Hahn, William C;
Dunn, Ian F;
Beroukhim, Rameen

Publication type:

Article

The evolutionary biography of chronic lymphocytic leukemia.

Published in:

Nature Genetics, 2013, v. 45, n. 3, p. 229, doi. 10.1038/ng.2556

By:

Puente, Xose S;
López-Otín, Carlos

Publication type:

Article

XACT, a long noncoding transcript coating the active X chromosome in human pluripotent cells.

Published in:

Nature Genetics, 2013, v. 45, n. 3, p. 239, doi. 10.1038/ng.2530

By:

Vallot, Céline;
Huret, Christophe;
Lesecque, Yann;
Resch, Alissa;
Oudrhiri, Noufissa;
Bennaceur-Griscelli, Annelise;
Duret, Laurent;
Rougeulle, Claire

Publication type:

Article

PKCζ is a metabolic tumor suppressor.

Published in:

Nature Genetics, 2013, v. 45, n. 3, p. 233, doi. 10.1038/ng.2574

By:

Feliciano, Pamela

Publication type:

Article

Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis.

Published in:

Nature Genetics, 2013, v. 45, n. 3, p. 308, doi. 10.1038/ng.2539

By:

Twigg, Stephen R F;
Vorgia, Elena;
McGowan, Simon J;
Peraki, Ioanna;
Fenwick, Aimée L;
Sharma, Vikram P;
Allegra, Maryline;
Zaragkoulias, Andreas;
Akha, Elham Sadighi;
Knight, Samantha J L;
Lord, Helen;
Lester, Tracy;
Izatt, Louise;
Lampe, Anne K;
Mohammed, Shehla N;
Stewart, Fiona J;
Verloes, Alain;
Wilson, Louise C;
Healy, Chris;
Sharpe, Paul T

Publication type:

Article

Broader and deeper.

Published in:: Nature Genetics, 2013, v. 45, n. 3, p. 227, doi. 10.1038/ng.2580
Publication type:: Article

The genomic landscape of hypodiploid acute lymphoblastic leukemia.

Published in:

Nature Genetics, 2013, v. 45, n. 3, p. 242, doi. 10.1038/ng.2532

By:

Holmfeldt, Linda;
Wei, Lei;
Diaz-Flores, Ernesto;
Walsh, Michael;
Zhang, Jinghui;
Ding, Li;
Payne-Turner, Debbie;
Churchman, Michelle;
Andersson, Anna;
Chen, Shann-Ching;
McCastlain, Kelly;
Becksfort, Jared;
Ma, Jing;
Wu, Gang;
Patel, Samir N;
Heatley, Susan L;
Phillips, Letha A;
Song, Guangchun;
Easton, John;
Parker, Matthew

Publication type:

Article

Relapse-specific mutations in NT5C2 in childhood acute lymphoblastic leukemia.

Published in:

Nature Genetics, 2013, v. 45, n. 3, p. 290, doi. 10.1038/ng.2558

By:

Meyer, Julia A;
Wang, Jinhua;
Hogan, Laura E;
Yang, Jun J;
Dandekar, Smita;
Patel, Jay P;
Tang, Zuojian;
Zumbo, Paul;
Li, Sheng;
Zavadil, Jiri;
Levine, Ross L;
Cardozo, Timothy;
Hunger, Stephen P;
Raetz, Elizabeth A;
Evans, William E;
Morrison, Debra J;
Mason, Christopher E;
Carroll, William L

Publication type:

Article

Identification of multiple independent susceptibility loci in the HLA region in Behçet's disease.

Published in:

Nature Genetics, 2013, v. 45, n. 3, p. 319, doi. 10.1038/ng.2551

By:

Hughes, Travis;
Coit, Patrick;
Adler, Adam;
Yilmaz, Vuslat;
Aksu, Kenan;
Düzgün, Nursen;
Keser, Gokhan;
Cefle, Ayse;
Yazici, Ayten;
Ergen, Andac;
Alpsoy, Erkan;
Salvarani, Carlo;
Casali, Bruno;
Kötter, Ina;
Gutierrez-Achury, Javier;
Wijmenga, Cisca;
Direskeneli, Haner;
Saruhan-Direskeneli, Güher;
Sawalha, Amr H

Publication type:

Article