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Volume 44; Issue 5
Main
Nature Genetics
Volume 44; Issue 5
Nature Genetics
Volume 44; Issue 5
1
Bayesian method to predict individual SNP genotypes from gene expression data
Schadt, Eric E
,
Woo, Sangsoon
,
Hao, Ke
Journal:
Nature Genetics
Year:
2012
Language:
english
File:
PDF, 957 KB
Your tags:
english, 2012
2
Photosensitivity syndrome brings to light a new transcription-coupled DNA repair cofactor
Cleaver, James E
Journal:
Nature Genetics
Year:
2012
Language:
english
File:
PDF, 290 KB
Your tags:
english, 2012
3
UV-sensitive syndrome protein UVSSA recruits USP7 to regulate transcription-coupled repair
Schwertman, Petra
,
Lagarou, Anna
,
Dekkers, Dick H W
,
Raams, Anja
,
van der Hoek, Adriana C
,
Laffeber, Charlie
,
Hoeijmakers, Jan H J
,
Demmers, Jeroen A A
,
Fousteri, Maria
,
Vermeulen, Wim
,
Marteijn, Jurg
Journal:
Nature Genetics
Year:
2012
Language:
english
File:
PDF, 958 KB
Your tags:
english, 2012
4
Exome sequencing of gastric adenocarcinoma identifies recurrent somatic mutations in cell adhesion and chromatin remodeling genes
Zang, Zhi Jiang
,
Cutcutache, Ioana
,
Poon, Song Ling
,
Zhang, Shen Li
,
McPherson, John R
,
Tao, Jiong
,
Rajasegaran, Vikneswari
,
Heng, Hong Lee
,
Deng, Niantao
,
Gan, Anna
,
Lim, Kiat Hon
,
Ong, Choon Kiat
,
H
Journal:
Nature Genetics
Year:
2012
Language:
english
File:
PDF, 682 KB
Your tags:
english, 2012
5
Multiple apical plasma membrane constituents are associated with susceptibility to meconium ileus in individuals with cystic fibrosis
Sun, Lei
,
Rommens, Johanna M
,
Corvol, Harriet
,
Li, Weili
,
Li, Xin
,
Chiang, Theodore A
,
Lin, Fan
,
Dorfman, Ruslan
,
Busson, Pierre-François
,
Parekh, Rashmi V
,
Zelenika, Diana
,
Blackman, Scott M
,
Corey,
Journal:
Nature Genetics
Year:
2012
Language:
english
File:
PDF, 781 KB
Your tags:
english, 2012
6
Genetics of gene expression in primary immune cells identifies cell type–specific master regulators and roles of HLA alleles
Fairfax, Benjamin P
,
Makino, Seiko
,
Radhakrishnan, Jayachandran
,
Plant, Katharine
,
Leslie, Stephen
,
Dilthey, Alexander
,
Ellis, Peter
,
Langford, Cordelia
,
Vannberg, Fredrik O
,
Knight, Julian C
Journal:
Nature Genetics
Year:
2012
Language:
english
File:
PDF, 4.29 MB
Your tags:
english, 2012
7
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture
Estrada, Karol
,
Styrkarsdottir, Unnur
,
Evangelou, Evangelos
,
Hsu, Yi-Hsiang
,
Duncan, Emma L
,
Ntzani, Evangelia E
,
Oei, Ling
,
Albagha, Omar M E
,
Amin, Najaf
,
Kemp, John P
,
Koller, Daniel L
,
Li, Guo
,
Li
Journal:
Nature Genetics
Year:
2012
Language:
english
File:
PDF, 1.11 MB
Your tags:
english, 2012
8
Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair
Nakazawa, Yuka
,
Sasaki, Kensaku
,
Mitsutake, Norisato
,
Matsuse, Michiko
,
Shimada, Mayuko
,
Nardo, Tiziana
,
Takahashi, Yoshito
,
Ohyama, Kaname
,
Ito, Kosei
,
Mishima, Hiroyuki
,
Nomura, Masayo
,
Kinoshita, A
Journal:
Nature Genetics
Year:
2012
Language:
english
File:
PDF, 900 KB
Your tags:
english, 2012
9
A genome-wide association meta-analysis identifies new childhood obesity loci
Bradfield, Jonathan P
,
Taal, H Rob
,
Timpson, Nicholas J
,
Scherag, André
,
Lecoeur, Cecile
,
Warrington, Nicole M
,
Hypponen, Elina
,
Holst, Claus
,
Valcarcel, Beatriz
,
Thiering, Elisabeth
,
Salem, Rany M
,
S
Journal:
Nature Genetics
Year:
2012
Language:
english
File:
PDF, 400 KB
Your tags:
english, 2012
10
Identification of common variants associated with human hippocampal and intracranial volumes
Stein, Jason L
,
Medland, Sarah E
,
Vasquez, Alejandro Arias
,
Hibar, Derrek P
,
Senstad, Rudy E
,
Winkler, Anderson M
,
Toro, Roberto
,
Appel, Katja
,
Bartecek, Richard
,
Bergmann, Ørjan
,
Bernard, Manon
,
Brow
Journal:
Nature Genetics
Year:
2012
Language:
english
File:
PDF, 1023 KB
Your tags:
english, 2012
11
Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis
Stahl, Eli A
,
Wegmann, Daniel
,
Trynka, Gosia
,
Gutierrez-Achury, Javier
,
Do, Ron
,
Voight, Benjamin F
,
Kraft, Peter
,
Chen, Robert
,
Kallberg, Henrik J
,
Kurreeman, Fina A S
,
Kathiresan, Sekar
,
Wijmenga, C
Journal:
Nature Genetics
Year:
2012
Language:
english
File:
PDF, 654 KB
Your tags:
english, 2012
12
Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair
Zhang, Xue
,
Horibata, Katsuyoshi
,
Saijo, Masafumi
,
Ishigami, Chie
,
Ukai, Akiko
,
Kanno, Shin-ichiro
,
Tahara, Hidetoshi
,
Neilan, Edward G
,
Honma, Masamitsu
,
Nohmi, Takehiko
,
Yasui, Akira
,
Tanaka, Kiyoji
Journal:
Nature Genetics
Year:
2012
Language:
english
File:
PDF, 654 KB
Your tags:
english, 2012
13
Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population
Okada, Yukinori
,
Terao, Chikashi
,
Ikari, Katsunori
,
Kochi, Yuta
,
Ohmura, Koichiro
,
Suzuki, Akari
,
Kawaguchi, Takahisa
,
Stahl, Eli A
,
Kurreeman, Fina A S
,
Nishida, Nao
,
Ohmiya, Hiroko
,
Myouzen, Keiko
,
Journal:
Nature Genetics
Year:
2012
Language:
english
File:
PDF, 722 KB
Your tags:
english, 2012
14
Super-PTEN mice
Feliciano, Pamela
Journal:
Nature Genetics
Year:
2012
Language:
english
File:
PDF, 72 KB
Your tags:
english, 2012
15
Cell type–specific eQTLs in the human immune system
Gregersen, Peter K
Journal:
Nature Genetics
Year:
2012
Language:
english
File:
PDF, 1.18 MB
Your tags:
english, 2012
16
Two new susceptibility loci for Kawasaki disease identified through genome-wide association analysis
Lee, Yi-Ching
,
Kuo, Ho-Chang
,
Chang, Jeng-Sheng
,
Chang, Luan-Yin
,
Huang, Li-Min
,
Chen, Ming-Ren
,
Liang, Chi-Di
,
Chi, Hsin
,
Huang, Fu-Yuan
,
Lee, Meng-Luen
,
Huang, Yhu-Chering
,
Hwang, Betau
,
Chiu, Nan-C
Journal:
Nature Genetics
Year:
2012
Language:
english
File:
PDF, 478 KB
Your tags:
english, 2012
17
A genome-wide association study identifies three new risk loci for Kawasaki disease
Onouchi, Yoshihiro
,
Ozaki, Kouichi
,
Burns, Jane C
,
Shimizu, Chisato
,
Terai, Masaru
,
Hamada, Hiromichi
,
Honda, Takafumi
,
Suzuki, Hiroyuki
,
Suenaga, Tomohiro
,
Takeuchi, Takashi
,
Yoshikawa, Norishige
,
Su
Journal:
Nature Genetics
Year:
2012
Language:
english
File:
PDF, 396 KB
Your tags:
english, 2012
18
Common variants at 12q15 and 12q24 are associated with infant head circumference
Taal, H Rob
,
St Pourcain, Beate
,
Thiering, Elisabeth
,
Das, Shikta
,
Mook-Kanamori, Dennis O
,
Warrington, Nicole M
,
Kaakinen, Marika
,
Kreiner-Møller, Eskil
,
Bradfield, Jonathan P
,
Freathy, Rachel M
,
Gel
Journal:
Nature Genetics
Year:
2012
Language:
english
File:
PDF, 615 KB
Your tags:
english, 2012
19
KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron
Louis-Dit-Picard, Hélène
,
Barc, Julien
,
Trujillano, Daniel
,
Miserey-Lenkei, Stéphanie
,
Bouatia-Naji, Nabila
,
Pylypenko, Olena
,
Beaurain, Geneviève
,
Bonnefond, Amélie
,
Sand, Olivier
,
Simian, Christophe
Journal:
Nature Genetics
Year:
2012
Language:
english
File:
PDF, 65 KB
Your tags:
english, 2012
20
Germline RAD51C mutations confer susceptibility to ovarian cancer
Loveday, Chey
,
Turnbull, Clare
,
Ruark, Elise
,
Xicola, Rosa Maria Munoz
,
Ramsay, Emma
,
Hughes, Deborah
,
Warren-Perry, Margaret
,
Snape, Katie
,
Eccles, Diana
,
Evans, D Gareth
,
Gore, Martin
,
Renwick, Anth
Journal:
Nature Genetics
Year:
2012
Language:
english
File:
PDF, 123 KB
Your tags:
english, 2012
21
Interpretation of regulatory polymorphism
Niemitz, Emily
Journal:
Nature Genetics
Year:
2012
Language:
english
File:
PDF, 64 KB
Your tags:
english, 2012
22
Testing times
Journal:
Nature Genetics
Year:
2012
Language:
english
File:
PDF, 89 KB
Your tags:
english, 2012
23
Straightforward recessive BBS
Axton, Myles
Journal:
Nature Genetics
Year:
2012
Language:
english
File:
PDF, 64 KB
Your tags:
english, 2012
24
Familial diarrhea syndrome
Vogan, Kyle
Journal:
Nature Genetics
Year:
2012
Language:
english
File:
PDF, 64 KB
Your tags:
english, 2012
25
Germline RAD51C mutations confer susceptibility to ovarian cancer
Meindl, Alfons
,
Eirich, Katharina
,
Engert, Stefanie
,
Becker, Alexandra
,
Endt, Daniela
,
Ditsch, Nina
,
Schmutzler, Rita K
,
Schindler, Detlev
Journal:
Nature Genetics
Year:
2012
Language:
english
File:
PDF, 95 KB
Your tags:
english, 2012
26
Chimpanzee genetic map
Bahcall, Orli
Journal:
Nature Genetics
Year:
2012
Language:
english
File:
PDF, 64 KB
Your tags:
english, 2012
27
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome
Willer, Tobias
,
Lee, Hane
,
Lommel, Mark
,
Yoshida-Moriguchi, Takako
,
de Bernabe, Daniel Beltran Valero
,
Venzke, David
,
Cirak, Sebahattin
,
Schachter, Harry
,
Vajsar, Jiri
,
Voit, Thomas
,
Muntoni, Francesc
Journal:
Nature Genetics
Year:
2012
Language:
english
File:
PDF, 1.31 MB
Your tags:
english, 2012
28
Common variants at 6q22 and 17q21 are associated with intracranial volume
Ikram, M Arfan
,
Fornage, Myriam
,
Smith, Albert V
,
Seshadri, Sudha
,
Schmidt, Reinhold
,
Debette, Stéphanie
,
Vrooman, Henri A
,
Sigurdsson, Sigurdur
,
Ropele, Stefan
,
Taal, H Rob
,
Mook-Kanamori, Dennis O
,
Journal:
Nature Genetics
Year:
2012
Language:
english
File:
PDF, 963 KB
Your tags:
english, 2012
29
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan
Roscioli, Tony
,
Kamsteeg, Erik-Jan
,
Buysse, Karen
,
Maystadt, Isabelle
,
van Reeuwijk, Jeroen
,
van den Elzen, Christa
,
van Beusekom, Ellen
,
Riemersma, Moniek
,
Pfundt, Rolph
,
Vissers, Lisenka E L M
,
Schr
Journal:
Nature Genetics
Year:
2012
Language:
english
File:
PDF, 1.13 MB
Your tags:
english, 2012
30
Common variants at 12q14 and 12q24 are associated with hippocampal volume
Bis, Joshua C
,
DeCarli, Charles
,
Smith, Albert Vernon
,
van der Lijn, Fedde
,
Crivello, Fabrice
,
Fornage, Myriam
,
Debette, Stephanie
,
Shulman, Joshua M
,
Schmidt, Helena
,
Srikanth, Velandai
,
Schuur, Maai
Journal:
Nature Genetics
Year:
2012
Language:
english
File:
PDF, 563 KB
Your tags:
english, 2012
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