Volume 46; Issue 5

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Nature Genetics
Volume 46; Issue 5

Nature Genetics

Volume 46; Issue 5

1

POT1 loss-of-function variants predispose to familial melanoma

Robles-Espinoza, Carla Daniela, Harland, Mark, Ramsay, Andrew J, Aoude, Lauren G, Quesada, Víctor, Ding, Zhihao, Pooley, Karen A, Pritchard, Antonia L, Tiffen, Jessamy C, Petljak, Mia, Palmer, Jane M,

Journal:

Nature Genetics

Year:

2014

Language:

english

File:

PDF, 521 KB

english, 2014

2

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

Rice, Gillian I, del Toro Duany, Yoandris, Jenkinson, Emma M, Forte, Gabriella M A, Anderson, Beverley H, Ariaudo, Giada, Bader-Meunier, Brigitte, Baildam, Eileen M, Battini, Roberta, Beresford, Micha

Journal:

Nature Genetics

Year:

2014

Language:

english

File:

PDF, 1.65 MB

english, 2014

3

Low copy number of the salivary amylase gene predisposes to obesity

Falchi, Mario, El-Sayed Moustafa, Julia Sarah, Takousis, Petros, Pesce, Francesco, Bonnefond, Amélie, Andersson-Assarsson, Johanna C, Sudmant, Peter H, Dorajoo, Rajkumar, Al-Shafai, Mashael Nedham, Bo

Journal:

Nature Genetics

Year:

2014

Language:

english

File:

PDF, 700 KB

english, 2014

4

Heritability and genomics of gene expression in peripheral blood

Wright, Fred A, Sullivan, Patrick F, Brooks, Andrew I, Zou, Fei, Sun, Wei, Xia, Kai, Madar, Vered, Jansen, Rick, Chung, Wonil, Zhou, Yi-Hui, Abdellaoui, Abdel, Batista, Sandra, Butler, Casey, Chen, Gu

Journal:

Nature Genetics

Year:

2014

Language:

english

File:

PDF, 1.24 MB

english, 2014

5

TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural function

Gómez-Herreros, Fernando, Schuurs-Hoeijmakers, Janneke H M, McCormack, Mark, Greally, Marie T, Rulten, Stuart, Romero-Granados, Rocío, Counihan, Timothy J, Chaila, Elijah, Conroy, Judith, Ennis, Sean,

Journal:

Nature Genetics

Year:

2014

Language:

english

File:

PDF, 913 KB

english, 2014

6

TDP2 keeps the brain healthy

McKinnon, Peter J

Journal:

Nature Genetics

Year:

2014

Language:

english

File:

PDF, 298 KB

english, 2014

7

Genomic and molecular characterization of esophageal squamous cell carcinoma

Lin, De-Chen, Hao, Jia-Jie, Nagata, Yasunobu, Xu, Liang, Shang, Li, Meng, Xuan, Sato, Yusuke, Okuno, Yusuke, Varela, Ana Maria, Ding, Ling-Wen, Garg, Manoj, Liu, Li-Zhen, Yang, Henry, Yin, Dong, Shi,

Journal:

Nature Genetics

Year:

2014

Language:

english

File:

PDF, 1.66 MB

english, 2014

8

MRSA toxicity and virulence

Journal:

Nature Genetics

Year:

2014

Language:

english

File:

PDF, 121 KB

english, 2014

9

Epigenetic reprogramming in treatment-resistant breast cancer

LaFlamme, Brooke

Journal:

Nature Genetics

Year:

2014

Language:

english

File:

PDF, 121 KB

english, 2014

10

Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma

Shi, Jianxin, Yang, Xiaohong R, Ballew, Bari, Rotunno, Melissa, Calista, Donato, Fargnoli, Maria Concetta, Ghiorzo, Paola, Bressac-de Paillerets, Brigitte, Nagore, Eduardo, Avril, Marie Francoise, Cap

Journal:

Nature Genetics

Year:

2014

Language:

english

File:

PDF, 844 KB

english, 2014

11

Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations

Buczkowicz, Pawel, Hoeman, Christine, Rakopoulos, Patricia, Pajovic, Sanja, Letourneau, Louis, Dzamba, Misko, Morrison, Andrew, Lewis, Peter, Bouffet, Eric, Bartels, Ute, Zuccaro, Jennifer, Agnihotri,

Journal:

Nature Genetics

Year:

2014

Language:

english

File:

PDF, 840 KB

english, 2014

12

Association of a germline copy number polymorphism of APOBEC3A and APOBEC3B with burden of putative APOBEC-dependent mutations in breast cancer

Nik-Zainal, Serena, Wedge, David C, Alexandrov, Ludmil B, Petljak, Mia, Butler, Adam P, Bolli, Niccolo, Davies, Helen R, Knappskog, Stian, Martin, Sancha, Papaemmanuil, Elli, Ramakrishna, Manasa, Shli

Journal:

Nature Genetics

Year:

2014

Language:

english

File:

PDF, 431 KB

english, 2014

13

Organizing the body axis

Journal:

Nature Genetics

Year:

2014

Language:

english

File:

PDF, 121 KB

english, 2014

14

Severe osteoarthritis of the hand associates with common variants within the ALDH1A2 gene and with rare variants at 1p31

Styrkarsdottir, Unnur, Thorleifsson, Gudmar, Helgadottir, Hafdis T, Bomer, Nils, Metrustry, Sarah, Bierma-Zeinstra, S, Strijbosch, Annelieke M, Evangelou, Evangelos, Hart, Deborah, Beekman, Marian, Jo

Journal:

Nature Genetics

Year:

2014

Language:

english

File:

PDF, 522 KB

english, 2014

15

De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome

Mirzaa, Ghayda M, Parry, David A, Fry, Andrew E, Giamanco, Kristin A, Schwartzentruber, Jeremy, Vanstone, Megan, Logan, Clare V, Roberts, Nicola, Johnson, Colin A, Singh, Shawn, Kholmanskikh, Stanisla

Journal:

Nature Genetics

Year:

2014

Language:

english

File:

PDF, 1.51 MB

english, 2014

16

Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type

Witkowski, Leora, Carrot-Zhang, Jian, Albrecht, Steffen, Fahiminiya, Somayyeh, Hamel, Nancy, Tomiak, Eva, Grynspan, David, Saloustros, Emmanouil, Nadaf, Javad, Rivera, Barbara, Gilpin, Catherine, Cast

Journal:

Nature Genetics

Year:

2014

Language:

english

File:

PDF, 921 KB

english, 2014

17

Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4

Ramos, Pilar, Karnezis, Anthony N, Craig, David W, Sekulic, Aleksandar, Russell, Megan L, Hendricks, William P D, Corneveaux, Jason J, Barrett, Michael T, Shumansky, Karey, Yang, Yidong, Shah, Sohrab

Journal:

Nature Genetics

Year:

2014

Language:

english

File:

PDF, 543 KB

english, 2014

18

Recurrent activating ACVR1 mutations in diffuse intrinsic pontine glioma

Taylor, Kathryn R, Mackay, Alan, Truffaux, Nathalène, Butterfield, Yaron S, Morozova, Olena, Philippe, Cathy, Castel, David, Grasso, Catherine S, Vinci, Maria, Carvalho, Diana, Carcaboso, Angel M, de

Journal:

Nature Genetics

Year:

2014

Language:

english

File:

PDF, 805 KB

english, 2014

19

The genomic landscape of diffuse intrinsic pontine glioma and pediatric non-brainstem high-grade glioma

Wu, Gang, Diaz, Alexander K, Paugh, Barbara S, Rankin, Sherri L, Ju, Bensheng, Li, Yongjin, Zhu, Xiaoyan, Qu, Chunxu, Chen, Xiang, Zhang, Junyuan, Easton, John, Edmonson, Michael, Ma, Xiaotu, Lu, Char

Journal:

Nature Genetics

Year:

2014

Language:

english

File:

PDF, 1.52 MB

english, 2014

20

GRM1 is upregulated through gene fusion and promoter swapping in chondromyxoid fibroma

Nord, Karolin H, Lilljebjörn, Henrik, Vezzi, Francesco, Nilsson, Jenny, Magnusson, Linda, Tayebwa, Johnbosco, de Jong, Danielle, Bovée, Judith V M G, Hogendoorn, Pancras C W, Szuhai, Karoly

Journal:

Nature Genetics

Year:

2014

Language:

english

File:

PDF, 462 KB

english, 2014

21

Recurrent SMARCA4 mutations in small cell carcinoma of the ovary

Jelinic, Petar, Mueller, Jennifer J, Olvera, Narciso, Dao, Fanny, Scott, Sasinya N, Shah, Ronak, Gao, JianJiong, Schultz, Nikolaus, Gonen, Mithat, Soslow, Robert A, Berger, Michael F, Levine, Douglas

Journal:

Nature Genetics

Year:

2014

Language:

english

File:

PDF, 364 KB

english, 2014

22

ACVR1 mutations and the genomic landscape of pediatric diffuse glioma

Zadeh, Gelareh, Aldape, Kenneth

Journal:

Nature Genetics

Year:

2014

Language:

english

File:

PDF, 408 KB

english, 2014

23

Oncogenic chimeric transcript

Journal:

Nature Genetics

Year:

2014

Language:

english

File:

PDF, 121 KB

english, 2014

24

MDA5 and autoimmune disease

Miner, Jonathan J, Diamond, Michael S

Journal:

Nature Genetics

Year:

2014

Language:

english

File:

PDF, 342 KB

english, 2014

25

Researching the researchers

Journal:

Nature Genetics

Year:

2014

Language:

english

File:

PDF, 130 KB

english, 2014

26

Recurrent somatic mutations in ACVR1 in pediatric midline high-grade astrocytoma

Fontebasso, Adam M, Papillon-Cavanagh, Simon, Schwartzentruber, Jeremy, Nikbakht, Hamid, Gerges, Noha, Fiset, Pierre-Olivier, Bechet, Denise, Faury, Damien, De Jay, Nicolas, Ramkissoon, Lori A, Corcor

Journal:

Nature Genetics

Year:

2014

Language:

english

File:

PDF, 932 KB

english, 2014

27

Clinical genome interpretation

Journal:

Nature Genetics

Year:

2014

Language:

english

File:

PDF, 121 KB

english, 2014

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