Volume 94; Issue 6

The American Journal of Human Genetics

Volume 94; Issue 6

1

Return of Genomic Results to Research Participants: The Floor, the Ceiling, and the Choices In Between

Jarvik, Gail P., Amendola, Laura M., Berg, Jonathan S., Brothers, Kyle, Clayton, Ellen W., Chung, Wendy, Evans, Barbara J., Evans, James P., Fullerton, Stephanie M., Gallego, Carlos J., Garrison, Nani

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 124 KB

english, 2014

2

Contrasting X-Linked and Autosomal Diversity across 14 Human Populations

Arbiza, Leonardo, Gottipati, Srikanth, Siepel, Adam, Keinan, Alon

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 2.50 MB

english, 2014

3

Mutations in EMP2 Cause Childhood-Onset Nephrotic Syndrome

Gee, Heon Yung, Ashraf, Shazia, Wan, Xiaoyang, Vega-Warner, Virginia, Esteve-Rudd, Julian, Lovric, Svjetlana, Fang, Humphrey, Hurd, Toby W., Sadowski, Carolin E., Allen, Susan J., Otto, Edgar A., Kork

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 2.26 MB

english, 2014

4

Utilizing Population Controls in Rare-Variant Case-Parent Association Tests

Jiang, Yu, Satten, Glen A., Han, Yujun, Epstein, Michael P., Heinzen, Erin L., Goldstein, David B., Allen, Andrew S.

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 196 KB

english, 2014

5

Neu-Laxova Syndrome, an Inborn Error of Serine Metabolism, Is Caused by Mutations in PHGDH

Shaheen, Ranad, Rahbeeni, Zuhair, Alhashem, Amal, Faqeih, Eissa, Zhao, Qi, Xiong, Yong, Almoisheer, Agaadir, Al-Qattan, Sarah M., Almadani, Halima A., Al-Onazi, Noufa, Al-Baqawi, Badi S., Saleh, Moham

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 1.58 MB

english, 2014

6

Mutations in DOCK7 in Individuals with Epileptic Encephalopathy and Cortical Blindness

Perrault, Isabelle, Hamdan, Fadi F., Rio, Marlène, Capo-Chichi, José-Mario, Boddaert, Nathalie, Décarie, Jean-Claude, Maranda, Bruno, Nabbout, Rima, Sylvain, Michel, Lortie, Anne, Roux, Philippe P., R

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 1.32 MB

english, 2014

7

Mutations of CEP83 Cause Infantile Nephronophthisis and Intellectual Disability

Failler, Marion, Gee, Heon Yung, Krug, Pauline, Joo, Kwangsic, Halbritter, Jan, Belkacem, Lilya, Filhol, Emilie, Porath, Jonathan D., Braun, Daniela A., Schueler, Markus, Frigo, Amandine, Alibeu, Oliv

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 2.90 MB

english, 2014

8

An Enhancer Polymorphism at the Cardiomyocyte Intercalated Disc Protein NOS1AP Locus Is a Major Regulator of the QT Interval

Kapoor, Ashish, Sekar, Rajesh B., Hansen, Nancy F., Fox-Talbot, Karen, Morley, Michael, Pihur, Vasyl, Chatterjee, Sumantra, Brandimarto, Jeffrey, Moravec, Christine S., Pulit, Sara L., Pfeufer, Arne,

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 2.26 MB

english, 2014

9

Janet Davison Rowley, M.D. (1925–2013)

Gollin, Susanne M., Reshmi, Shalini C.

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 629 KB

english, 2014

10

This Month in The Journal

Ratzel, Sarah, Cullinan, Sara B.

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 43 KB

english, 2014