Volume 133; Issue 5

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Human Genetics
Volume 133; Issue 5

Human Genetics

Volume 133; Issue 5

1

Common DNA variants predict tall stature in Europeans

Liu, Fan, Hendriks, A. Emile J., Ralf, Arwin, Boot, Annemieke M., Benyi, Emelie, SÃ¤vendahl, Lars, Oostra, Ben A., Duijn, Cornelia, Hofman, Albert, Rivadeneira, Fernando, Uitterlinden, AndrÃ© G., Drop

Journal:

Year:

2014

Language:

english

File:

PDF, 428 KB

english, 2014

2

Erratum to: RET and NRG1 interplay in Hirschsprung disease

Gui, Hongsheng, Tang, Wai-Kiu, So, Man-Ting, Proitsi, Petroola, Sham, Pak C., Tam, Paul K., Ngan, Elly Sau-Wai, Cherny, Stacey S., Garcia-Barceló, Maria-Mercè

Journal:

Year:

2014

Language:

english

File:

PDF, 121 KB

english, 2014

3

NIPA2mutations are correlative with childhood absence epilepsy in the Han Chinese population

Jiang, Yuwu, Zhang, Yuehua, Zhang, Pingping, Zhang, Feng, Xie, Han, Chan, Piu, Wu, Xiru

Journal:

Year:

2014

Language:

english

File:

PDF, 203 KB

english, 2014

4

The genetic basis of pulmonary arterial hypertension

Ma, Lijiang, Chung, Wendy K.

Journal:

Year:

2014

Language:

english

File:

PDF, 435 KB

english, 2014

5

Does variation inNIPA2contribute to genetic generalized epilepsy?

Hildebrand, Michael S., Damiano, John A., Mullen, Saul A., Bellows, Susannah T., Scheffer, Ingrid E., Berkovic, Samuel F.

Journal:

Year:

2014

Language:

english

File:

PDF, 204 KB

english, 2014

6

Identification ofBACH2as a susceptibility gene for Graves’ disease in the Chinese Han population based on a three-stage genome-wide association study

Liu, Wei, Wang, Hai-Ning, Gu, Zhao-Hui, Yang, Shao-Ying, Ye, Xiao-Ping, Pan, Chun-Ming, Zhao, Shuang-Xia, Xue, Li-Qiong, Xie, Hui-Jun, Yu, Sha-Sha, Guo, Cui-Cui, Du, Wen-Hua, Liang, Jun, Zhang, Xiao-M

Journal:

Year:

2014

Language:

english

File:

PDF, 556 KB

english, 2014

7

X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome

Møller, R. S., Jensen, L. R., Maas, S. M., Filmus, J., Capurro, M., Hansen, C., Marcelis, C. L. M., Ravn, K., Andrieux, J., Mathieu, M., Kirchhoff, M., Rødningen, O. K., de Leeuw, N., Yntema, H. G., F

Journal:

Year:

2014

Language:

english

File:

PDF, 629 KB

english, 2014

8

Improving genetic risk prediction by leveraging pleiotropy

Li, Cong, Yang, Can, Gelernter, Joel, Zhao, Hongyu

Journal:

Year:

2014

Language:

english

File:

PDF, 643 KB

english, 2014

9

Case–control association study of polymorphisms in the voltage-gated sodium channel genesSCN1A,SCN2A,SCN3A,SCN1B, andSCN2Band epilepsy

Baum, Larry, Haerian, Batoul Sadat, Ng, Ho-Keung, Wong, Virginia C. N., Ng, Ping Wing, Lui, Colin H. T., Sin, Ngai Chuen, Zhang, Chunbo, Tomlinson, Brian, Wong, Gary Wing-Kin, Tan, Hui Jan, Raymond, A

Journal:

Year:

2014

Language:

english

File:

PDF, 335 KB

english, 2014

10

Exploring the genetic architecture of alcohol dependence in African-Americans via analysis of a genomewide set of common variants

Yang, Can, Li, Cong, Kranzler, Henry R., Farrer, Lindsay A., Zhao, Hongyu, Gelernter, Joel

Journal:

Year:

2014

Language:

english

File:

PDF, 424 KB

english, 2014

11

Erratum to: A genome-wide association study of prostate cancer in West African men

Cook, Michael Blaise, Wang, Zhaoming, Yeboah, Edward D., Tettey, Yao, Biritwum, Richard B., Adjei, Andrew A., Tay, Evelyn, Truelove, Ann, Niwa, Shelley, Chung, Charles C., Chokkalingam, Annand P., Chu

Journal:

Year:

2014

Language:

english

File:

PDF, 131 KB

english, 2014

12

COOH-terminal collagen Q (COLQ) mutants causing human deficiency of endplate acetylcholinesterase impair the interaction of ColQ with proteins of the basal lamina

Arredondo, Juan, Lara, Marian, Ng, Fiona, Gochez, Danielle A., Lee, Diana C., Logia, Stephanie P., Nguyen, Joanna, Maselli, Ricardo A.

Journal:

Year:

2014

Language:

english

File:

PDF, 895 KB

english, 2014

13

Significant associations ofCHRNA2andCHRNA6with nicotine dependence in European American and African American populations

Wang, Shaolin, D van der Vaart, Andrew, Xu, Qing, Seneviratne, Chamindi, Pomerleau, Ovide F., Pomerleau, Cynthia S., Payne, Thomas J., Ma, Jennie Z., Li, Ming D.

Journal:

Year:

2014

Language:

english

File:

PDF, 432 KB

english, 2014

14

A genome-wide association study on copy-number variation identifies a 11q11 loss as a candidate susceptibility variant for colorectal cancer

Fernandez-Rozadilla, C., Cazier, J. B., Tomlinson, I., Brea-Fernández, A., Lamas, M. J., Baiget, M., López-Fernández, L. A., Clofent, J., Bujanda, L., Gonzalez, D., de Castro, L., Hemminki, K., Bessa,

Journal:

Year:

2014

Language:

english

File:

PDF, 320 KB

english, 2014

15

BRG1variant rs1122608 on chromosome 19p13.2 confers protection against stroke and regulates expression of pre-mRNA-splicing factorSFRS3

Xiong, Xin, Xu, Chengqi, Zhang, Yuting, Li, Xiuchun, Wang, Binbin, Wang, Fan, Yang, Qin, Wang, Dan, Wang, Xiaojing, Li, Sisi, Chen, Shanshan, Zhao, Yuanyuan, Yin, Dan, Huang, Yufeng, Zhu, Xuan, Wang,

Journal:

Year:

2014

Language:

english

File:

PDF, 397 KB

english, 2014

16

Genome-wide association study of subtype-specific epithelial ovarian cancer risk alleles using pooled DNA

Earp, Madalene A., Kelemen, Linda E., Magliocco, Anthony M., Swenerton, Kenneth D., Chenevix-Trench, Georgia, Lu, Yi, Hein, Alexander, Ekici, Arif B., Beckmann, Matthias W., Fasching, Peter A., Lambre

Journal:

Year:

2014

Language:

english

File:

PDF, 882 KB

english, 2014

17

A genome-wide association study of prostate cancer in West African men

Cook, Michael Blaise, Wang, Zhaoming, Yeboah, Edward D., Tettey, Yao, Biritwum, Richard B., Adjei, Andrew A., Tay, Evelyn, Truelove, Ann, Niwa, Shelley, Chung, Charles C., Chokkalingam, Annand P., Chu

Journal:

Year:

2014

Language:

english

File:

PDF, 348 KB

english, 2014

18

Comparative-high resolution melting: a novel method of simultaneous screening for small mutations and copy number variations

Borun, Pawel, Kubaszewski, Lukasz, Banasiewicz, Tomasz, Walkowiak, Jaroslaw, Skrzypczak-Zielinska, Marzena, Kaczmarek-Rys, Marta, Plawski, Andrzej

Journal:

Year:

2014

Language:

english

File:

PDF, 678 KB

english, 2014

19

Natural and orthogonal model for estimating gene–gene interactions applied to cutaneous melanoma

Xiao, Feifei, Ma, Jianzhong, Cai, Guoshuai, Fang, Shenying, Lee, Jeffrey E., Wei, Qingyi, Amos, Christopher I.

Journal:

Year:

2014

Language:

english

File:

PDF, 2.52 MB

english, 2014

20

Gene–gene and gene–environment interactions in ulcerative colitis

Ming-Hsi Wang,Claudio Fiocchi,Xiaofeng Zhu,Stephan Ripke…

Journal:

Year:

2014

Language:

english

File:

PDF, 484 KB

english, 2014