Volume 136; Issue 2

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Human Genetics
Volume 136; Issue 2

Human Genetics

Volume 136; Issue 2

1

Identifying gene–gene interactions that are highly associated with four quantitative lipid traits across multiple cohorts

De, Rishika, Verma, Shefali S., Holzinger, Emily, Hall, Molly, Burt, Amber, Carrell, David S., Crosslin, David R., Jarvik, Gail P., Kuivaniemi, Helena, Kullo, Iftikhar J., Lange, Leslie A., Lanktree,

Journal:

Year:

2017

Language:

english

File:

PDF, 1.33 MB

english, 2017

2

Identification of newTRIP12variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism

Bramswig, Nuria C., Lüdecke, H.-J., Pettersson, M., Albrecht, B., Bernier, R. A., Cremer, K., Eichler, E. E., Falkenstein, D., Gerdts, J., Jansen, S., Kuechler, A., Kvarnung, M., Lindstrand, A., Nilss

Journal:

Year:

2017

Language:

english

File:

PDF, 1.10 MB

english, 2017

3

Recorded interviews with human and medical geneticists

Harper, Peter S.

Journal:

Year:

2017

Language:

english

File:

PDF, 516 KB

english, 2017

4

Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract

Patel, Nisha, Anand, Deepti, Monies, Dorota, Maddirevula, Sateesh, Khan, Arif O., Algoufi, Talal, Alowain, Mohammed, Faqeih, Eissa, Alshammari, Muneera, Qudair, Ahmed, Alsharif, Hadeel, Aljubran, Fati

Journal:

Year:

2017

Language:

english

File:

PDF, 605 KB

english, 2017

5

Regional selection of the brain size regulating gene CASC5 provides new insight into human brain evolution

Shi, Lei, Hu, Enzhi, Wang, Zhenbo, Liu, Jiewei, Li, Jin, Li, Ming, Chen, Hua, Yu, Chunshui, Jiang, Tianzi, Su, Bing

Journal:

Year:

2017

Language:

english

File:

PDF, 4.32 MB

english, 2017

6

XCI-escaping geneKDM5Ccontributes to ovarian development via downregulating miR-320a

Sun, Yi-Xi, Zhang, Yi-Xin, Zhang, Dan, Xu, Chen-Ming, Chen, Song-Chang, Zhang, Jun-Yu, Ruan, Ye-Chun, Chen, Feng, Zhang, Run-Ju, Qian, Ye-Qing, Liu, Yi-Feng, Jin, Lu-Yang, Yu, Tian-Tian, Xu, Hai-Yan,

Journal:

Year:

2017

Language:

english

File:

PDF, 2.09 MB

english, 2017

7

Mutations inIL36RNare associated with geographic tongue

Liang, Jianying, Huang, Peichen, Li, Huaguo, Zhang, Jia, Ni, Cheng, Wang, Yirong, Shen, Jinwen, Li, Chunxiao, Kang, Lu, Chen, Jie, Zhang, Hui, Wang, Zhen, Zhang, Zhen, Li, Ming, Yao, Zhirong

Journal:

Year:

2017

Language:

english

File:

PDF, 1.52 MB

english, 2017

8

Mutations inSLC5A6associated with brain, immune, bone, and intestinal dysfunction in a young child

Subramanian, Veedamali S., Constantinescu, Alexandru R., Benke, Paul J., Said, Hamid M.

Journal:

Year:

2017

Language:

english

File:

PDF, 1.01 MB

english, 2017

9

The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis

Kehrer-Sawatzki, Hildegard, Farschtschi, Said, Mautner, Victor-Felix, Cooper, David N.

Journal:

Year:

2017

Language:

english

File:

PDF, 1.60 MB

english, 2017

10

Gene-based analyses reveal novel genetic overlap and allelic heterogeneity across five major psychiatric disorders

Zhao, Huiying, Nyholt, Dale R.

Journal:

Year:

2017

Language:

english

File:

PDF, 1.00 MB

english, 2017