Volume 133; Issue 1

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Human Genetics
Volume 133; Issue 1

Human Genetics

Volume 133; Issue 1

1

Genome-wide association study and meta-analysis of intraocular pressure

Ozel, A. Bilge, Moroi, Sayoko E., Reed, David M., Nika, Melisa, Schmidt, Caroline M., Akbari, Sara, Scott, Kathleen, Rozsa, Frank, Pawar, Hemant, Musch, David C., Lichter, Paul R., Gaasterland, Doug,

Journal:

Year:

2014

Language:

english

File:

PDF, 944 KB

english, 2014

2

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

Stenson, Peter D., Mort, Matthew, Ball, Edward V., Shaw, Katy, Phillips, Andrew D., Cooper, David N.

Journal:

Year:

2014

Language:

english

File:

PDF, 554 KB

english, 2014

3

Genetic testing and genetic counseling among medicaid-enrolled children with autism spectrum disorder in 2001 and 2007

Shea, Lindsay, Newschaffer, Craig J., Xie, Ming, Myers, Scott M., Mandell, David S.

Journal:

Year:

2014

Language:

english

File:

PDF, 190 KB

english, 2014

4

A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects

Shameer, Khader, Denny, Joshua C., Ding, Keyue, Jouni, Hayan, Crosslin, David R., Andrade, Mariza, Chute, Christopher G., Peissig, Peggy, Pacheco, Jennifer A., Li, Rongling, Bastarache, Lisa, Kho, Abe

Journal:

Year:

2014

Language:

english

File:

PDF, 769 KB

english, 2014

5

WNT10Avariants are associated with non-syndromic tooth agenesis in the general population

Song, Shujuan, Zhao, Ruiying, He, Huiying, Zhang, Jin, Feng, Hailan, Lin, Liyun

Journal:

Year:

2014

Language:

english

File:

PDF, 207 KB

english, 2014

6

Genetic interactions found between calcium channel genes modulate amyloid load measured by positron emission tomography

Koran, Mary Ellen I., Hohman, Timothy J., Thornton-Wells, Tricia A.

Journal:

Year:

2014

Language:

english

File:

PDF, 321 KB

english, 2014

7

Haptoglobin (HP) and Haptoglobin-related protein (HPR) copy number variation, natural selection, and trypanosomiasis

Hardwick, Robert J., Ménard, Anne, Sironi, Manuela, Milet, Jacqueline, Garcia, André, Sese, Claude, Yang, Fengtang, Fu, Beiyuan, Courtin, David, Hollox, Edward J.

Journal:

Year:

2014

Language:

english

File:

PDF, 1.04 MB

english, 2014

8

Comprehensive analysis of the transcriptional landscape of the humanFMR1gene reveals two new long noncoding RNAs differentially expressed in Fragile X syndrome and Fragile X-associated tremor/ataxia syndrome

Pastori, Chiara, Peschansky, Veronica J., Barbouth, Deborah, Mehta, Arpit, Silva, Jose P., Wahlestedt, Claes

Journal:

Year:

2014

Language:

english

File:

PDF, 455 KB

english, 2014

9

The missing “link”: an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation

Schreml, Julia, Durmaz, Burak, Cogulu, Ozgur, Keupp, Katharina, Beleggia, Filippo, Pohl, Esther, Milz, Esther, Coker, Mahmut, Ucar, Sema Kalkan, Nürnberg, Gudrun, Nürnberg, Peter, Kuhn, Joachim, Ozkin

Journal:

Year:

2014

Language:

english

File:

PDF, 718 KB

english, 2014

10

The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left heart disease

Warburton, Dorothy, Ronemus, Michael, Kline, Jennie, Jobanputra, Vaidehi, Williams, Ismee, Anyane-Yeboa, Kwame, Chung, Wendy, Yu, Lan, Wong, Nancy, Awad, Danielle, Yu, Chih-yu, Leotta, Anthony, Kendal

Journal:

Year:

2014

Language:

english

File:

PDF, 318 KB

english, 2014

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