Volume 135; Issue 11

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Human Genetics
Volume 135; Issue 11

Human Genetics

Volume 135; Issue 11

1

Whole-genome sequencing in French Canadians from Quebec

Low-Kam, Cécile, Rhainds, David, Lo, Ken Sin, Provost, Sylvie, Mongrain, Ian, Dubois, Anick, Perreault, Sylvie, Robinson, John F., Hegele, Robert A., Dubé, Marie-Pierre, Tardif, Jean-Claude, Lettre, G

Journal:

Year:

2016

Language:

english

File:

PDF, 723 KB

english, 2016

2

Association of kidney structure-related gene variants with type 2 diabetes-attributed end-stage kidney disease in African Americans

Guan, Meijian, Ma, Jun, Keaton, Jacob M., Dimitrov, Latchezar, Mudgal, Poorva, Stromberg, Mary, Bonomo, Jason A., Hicks, Pamela J., Freedman, Barry I., Bowden, Donald W., Ng, Maggie C. Y.

Journal:

Year:

2016

Language:

english

File:

PDF, 565 KB

english, 2016

3

ANKS3is mutated in a family with autosomal recessive laterality defect

Shamseldin, Hanan E., Yakulov, Toma Antonov, Hashem, Amal, Walz, Gerd, Alkuraya, Fowzan S.

Journal:

Year:

2016

Language:

english

File:

PDF, 1.64 MB

english, 2016

4

Genome-wide scans reveal variants atEDARpredominantly affecting hair straightness in Han Chinese and Uyghur populations

Wu, Sijie, Tan, Jingze, Yang, Yajun, Peng, Qianqian, Zhang, Manfei, Li, Jinxi, Lu, Dongsheng, Liu, Yu, Lou, Haiyi, Feng, Qidi, Lu, Yan, Guan, Yaqun, Zhang, Zhaoxia, Jiao, Yi, Sabeti, Pardis, Krutmann,

Journal:

Year:

2016

Language:

english

File:

PDF, 1.23 MB

english, 2016

5

Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans

Alfadhel, Majid, Nashabat, Marwan, Qahtani, Hanan Al, Alfares, Ahmed, Mutairi, Fuad Al, Shaalan, Hesham Al, Douglas, Ganka V., Wierenga, Klaas, Juusola, Jane, Alrifai, Muhammad Talal, Arold, Stefan T.

Journal:

Year:

2016

Language:

english

File:

PDF, 718 KB

english, 2016

6

Identification of susceptibility gene associated with female primary Sjögren’s syndrome in Han Chinese by genome-wide association study

Song, I-Wen, Chen, Hsiang-Cheng, Lin, Yuh-Feng, Yang, Jenn-Hwai, Chang, Chi-Ching, Chou, Chung-Tei, Lee, Ming-Ta Michael, Chou, Yi-Chun, Chen, Chien-Hsiun, Chen, Yuan-Tsong, Chen, Chen-Hung, Wu, Jer-Y

Journal:

Year:

2016

Language:

english

File:

PDF, 979 KB

english, 2016

7

Multiple rare variants in high-risk pancreatic cancer-related genes may increase risk for pancreatic cancer in a subset of patients with and without germlineCDKN2Amutations

Yang, Xiaohong R., Rotunno, Melissa, Xiao, Yanzi, Ingvar, Christian, Helgadottir, Hildur, Pastorino, Lorenza, van Doorn, Remco, Bennett, Hunter, Graham, Cole, Sampson, Joshua N., Malasky, Michael, Vog

Journal:

Year:

2016

Language:

english

File:

PDF, 475 KB

english, 2016

8

HomozygousKCNMA1mutation as a cause of cerebellar atrophy, developmental delay and seizures

Tabarki, Brahim, AlMajhad, Nabil, AlHashem, Amal, Shaheen, Ranad, Alkuraya, Fowzan S.

Journal:

Year:

2016

Language:

english

File:

PDF, 616 KB

english, 2016

9

FUS-linked essential tremor associated with motor dysfunction inDrosophila

Tio, Murni, Wen, Rujing, Lim, Yih Lin, Wang, Huashan, Ling, Shuo-Chien, Zhao, Yi, Tan, Eng-King

Journal:

Year:

2016

Language:

english

File:

PDF, 949 KB

english, 2016