Volume 47; Issue 5

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Nature Genetics
Volume 47; Issue 5

Nature Genetics

Volume 47; Issue 5

1

A recombined allele of the lipase gene CEL and its pseudogene CELP confers susceptibility to chronic pancreatitis

Fjeld, Karianne, Weiss, Frank Ulrich, Lasher, Denise, Rosendahl, Jonas, Chen, Jian-Min, Johansson, Bente B, Kirsten, Holger, Ruffert, Claudia, Masson, Emmanuelle, Steine, Solrun J, Bugert, Peter, Cnop

Journal:

Nature Genetics

Year:

2015

Language:

english

File:

PDF, 1.60 MB

english, 2015

2

Loss-of-function variants in ABCA7 confer risk of Alzheimer's disease

Steinberg, Stacy, Stefansson, Hreinn, Jonsson, Thorlakur, Johannsdottir, Hrefna, Ingason, Andres, Helgason, Hannes, Sulem, Patrick, Magnusson, Olafur Th, Gudjonsson, Sigurjon A, Unnsteinsdottir, Unnur

Journal:

Nature Genetics

Year:

2015

Language:

english

File:

PDF, 324 KB

english, 2015

3

Identification of a large set of rare complete human knockouts

Sulem, Patrick, Helgason, Hannes, Oddson, Asmundur, Stefansson, Hreinn, Gudjonsson, Sigurjon A, Zink, Florian, Hjartarson, Eirikur, Sigurdsson, Gunnar Th, Jonasdottir, Adalbjorg, Jonasdottir, Aslaug,

Journal:

Nature Genetics

Year:

2015

Language:

english

File:

PDF, 529 KB

english, 2015

4

Large-scale whole-genome sequencing of the Icelandic population

Gudbjartsson, Daniel F, Helgason, Hannes, Gudjonsson, Sigurjon A, Zink, Florian, Oddson, Asmundur, Gylfason, Arnaldur, Besenbacher, Soren, Magnusson, Gisli, Halldorsson, Bjarni V, Hjartarson, Eirikur,

Journal:

Nature Genetics

Year:

2015

Language:

english

File:

PDF, 1.10 MB

english, 2015

5

The Y-chromosome point mutation rate in humans

Helgason, Agnar, Einarsson, Axel W, Guðmundsdóttir, Valdís B, Sigurðsson, Ásgeir, Gunnarsdóttir, Ellen D, Jagadeesan, Anuradha, Ebenesersdóttir, S Sunna, Kong, Augustine, Stefánsson, Kári

Journal:

Nature Genetics

Year:

2015

Language:

english

File:

PDF, 620 KB

english, 2015

6

Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia

Noetzli, Leila, Lo, Richard W, Lee-Sherick, Alisa B, Callaghan, Michael, Noris, Patrizia, Savoia, Anna, Rajpurkar, Madhvi, Jones, Kenneth, Gowan, Katherine, Balduini, Carlo L, Pecci, Alessandro, Gnan,

Journal:

Nature Genetics

Year:

2015

Language:

english

File:

PDF, 1.19 MB

english, 2015

7

Exome sequencing of hepatocellular carcinomas identifies new mutational signatures and potential therapeutic targets

Schulze, Kornelius, Imbeaud, Sandrine, Letouzé, Eric, Alexandrov, Ludmil B, Calderaro, Julien, Rebouissou, Sandra, Couchy, Gabrielle, Meiller, Clément, Shinde, Jayendra, Soysouvanh, Frederic, Calatayu

Journal:

Nature Genetics

Year:

2015

Language:

english

File:

PDF, 2.61 MB

english, 2015

8

Targeted disruption of DNMT1, DNMT3A and DNMT3B in human embryonic stem cells

Liao, Jing, Karnik, Rahul, Gu, Hongcang, Ziller, Michael J, Clement, Kendell, Tsankov, Alexander M, Akopian, Veronika, Gifford, Casey A, Donaghey, Julie, Galonska, Christina, Pop, Ramona, Reyon, Deepa

Journal:

Nature Genetics

Year:

2015

Language:

english

File:

PDF, 5.78 MB

english, 2015

9

Testing for genetic associations in arbitrarily structured populations

Song, Minsun, Hao, Wei, Storey, John D

Journal:

Nature Genetics

Year:

2015

Language:

english

File:

PDF, 1.23 MB

english, 2015

10

FBXL10 protects Polycomb-bound genes from hypermethylation

Boulard, Mathieu, Edwards, John R, Bestor, Timothy H

Journal:

Nature Genetics

Year:

2015

Language:

english

File:

PDF, 4.38 MB

english, 2015

11

Exploring population size changes using SNP frequency spectra

Liu, Xiaoming, Fu, Yun-Xin

Journal:

Nature Genetics

Year:

2015

Language:

english

File:

PDF, 842 KB

english, 2015

12

Cooperative loss of RAS feedback regulation drives myeloid leukemogenesis

Zhao, Zhen, Chen, Chi-Chao, Rillahan, Cory D, Shen, Ronglai, Kitzing, Thomas, McNerney, Megan E, Diaz-Flores, Ernesto, Zuber, Johannes, Shannon, Kevin, Le Beau, Michelle M, Spector, Mona S, Kogan, Sco

Journal:

Nature Genetics

Year:

2015

Language:

english

File:

PDF, 1.40 MB

english, 2015

13

Muscle connective tissue controls development of the diaphragm and is a source of congenital diaphragmatic hernias

Merrell, Allyson J, Ellis, Benjamin J, Fox, Zachary D, Lawson, Jennifer A, Weiss, Jeffrey A, Kardon, Gabrielle

Journal:

Nature Genetics

Year:

2015

Language:

english

File:

PDF, 12.34 MB

english, 2015

14

Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening

Stuart, Bridget D, Choi, Jungmin, Zaidi, Samir, Xing, Chao, Holohan, Brody, Chen, Rui, Choi, Mihwa, Dharwadkar, Pooja, Torres, Fernando, Girod, Carlos E, Weissler, Jonathan, Fitzgerald, John, Kershaw,

Journal:

Nature Genetics

Year:

2015

Language:

english

File:

PDF, 1.28 MB

english, 2015

15

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

Akizu, Naiara, Cantagrel, Vincent, Zaki, Maha S, Al-Gazali, Lihadh, Wang, Xin, Rosti, Rasim Ozgur, Dikoglu, Esra, Gelot, Antoinette Bernabe, Rosti, Basak, Vaux, Keith K, Scott, Eric M, Silhavy, Jennif

Journal:

Nature Genetics

Year:

2015

Language:

english

File:

PDF, 4.39 MB

english, 2015

16

Mutational landscape and clonal architecture in grade II and III gliomas

Suzuki, Hiromichi, Aoki, Kosuke, Chiba, Kenichi, Sato, Yusuke, Shiozawa, Yusuke, Shiraishi, Yuichi, Shimamura, Teppei, Niida, Atsushi, Motomura, Kazuya, Ohka, Fumiharu, Yamamoto, Takashi, Tanahashi, K

Journal:

Nature Genetics

Year:

2015

Language:

english

File:

PDF, 5.55 MB

english, 2015

17

Genetic conflict reflected in tissue-specific maps of genomic imprinting in human and mouse

Babak, Tomas, DeVeale, Brian, Tsang, Emily K, Zhou, Yiqi, Li, Xin, Smith, Kevin S, Kukurba, Kim R, Zhang, Rui, Li, Jin Billy, van der Kooy, Derek, Montgomery, Stephen B, Fraser, Hunter B

Journal:

Nature Genetics

Year:

2015

Language:

english

File:

PDF, 3.14 MB

english, 2015

18

Transposon mutagenesis identifies genetic drivers of BrafV600E melanoma

Mann, Michael B, Black, Michael A, Jones, Devin J, Ward, Jerrold M, Yew, Christopher Chin Kuan, Newberg, Justin Y, Dupuy, Adam J, Rust, Alistair G, Bosenberg, Marcus W, McMahon, Martin, Print, Cristin

Journal:

Nature Genetics

Year:

2015

Language:

english

File:

PDF, 2.92 MB

english, 2015

19

Fine-tuning of transcription factor binding

Journal:

Nature Genetics

Year:

2015

Language:

english

File:

PDF, 124 KB

english, 2015

20

Keeping methylation at bay

Journal:

Nature Genetics

Year:

2015

Language:

english

File:

PDF, 382 KB

english, 2015

21

Dementia in a dish

LaFlamme, Brooke

Journal:

Nature Genetics

Year:

2015

Language:

english

File:

PDF, 124 KB

english, 2015

22

MicroRNAs dampen noisy expression

Journal:

Nature Genetics

Year:

2015

Language:

english

File:

PDF, 124 KB

english, 2015

23

BRAF pseudogene induces cancer

Journal:

Nature Genetics

Year:

2015

Language:

english

File:

PDF, 124 KB

english, 2015

24

Bladder exstrophy risk variants

Journal:

Nature Genetics

Year:

2015

Language:

english

File:

PDF, 124 KB

english, 2015

25

Loss of negative regulators amplifies RAS signaling

Lock, Rebecca, Cichowski, Karen

Journal:

Nature Genetics

Year:

2015

Language:

english

File:

PDF, 220 KB

english, 2015

26

Susceptibility to tuberculosis is associated with variants in the ASAP1 gene encoding a regulator of dendritic cell migration

Curtis, James, Luo, Yang, Zenner, Helen L, Cuchet-Lourenço, Delphine, Wu, Changxin, Lo, Kitty, Maes, Mailis, Alisaac, Ali, Stebbings, Emma, Liu, Jimmy Z, Kopanitsa, Liliya, Ignatyeva, Olga, Balabanova

Journal:

Nature Genetics

Year:

2015

Language:

english

File:

PDF, 1.07 MB

english, 2015