Volume 16; Issue 12

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Genetics in Medicine
Volume 16; Issue 12

Genetics in Medicine

Volume 16; Issue 12

1

Comprehensive and quantitative multilocus methylation analysis reveals the susceptibility of specific imprinted differentially methylated regions to aberrant methylation in Beckwith–Wiedemann syndrome with epimutations

Maeda, Toshiyuki, Higashimoto, Ken, Jozaki, Kosuke, Yatsuki, Hitomi, Nakabayashi, Kazuhiko, Makita, Yoshio, Tonoki, Hidefumi, Okamoto, Nobuhiko, Takada, Fumio, Ohashi, Hirofumi, Migita, Makoto, Kosaki

Journal:

Genetics in Medicine

Year:

2014

Language:

english

File:

PDF, 1011 KB

english, 2014

2

How do research participants perceive “uncertainty” in genome sequencing?

Biesecker, Barbara B., Klein, William, Lewis, Katie L., Fisher, Tyler C., Wright, Martha Frances, Biesecker, Leslie G., Han, Paul K.

Journal:

Genetics in Medicine

Year:

2014

Language:

english

File:

PDF, 358 KB

english, 2014

3

Ethnic effect on FMR1 carrier rate and AGG repeat interruptions among Ashkenazi women

Weiss, Karin, Orr-Urtreger, Avi, Kaplan Ber, Idit, Naiman, Tova, Shomrat, Ruth, Bardugu, Eyal, Yaron, Yuval, Ben-Shachar, Shay

Journal:

Genetics in Medicine

Year:

2014

Language:

english

File:

PDF, 395 KB

english, 2014

4

Comparison of risk management strategies between women testing positive for a BRCA variant of unknown significance and women with known BRCA deleterious mutations

Garcia, Christine, Lyon, Liisa, Littell, Ramey D., Powell, C. Bethan

Journal:

Genetics in Medicine

Year:

2014

Language:

english

File:

PDF, 134 KB

english, 2014

5

Utility before business

Teutsch, Steven M., Fielding, Jonathan E., Khoury, Muin J., Evans, James P.

Journal:

Genetics in Medicine

Year:

2014

Language:

english

File:

PDF, 323 KB

english, 2014

6

The business of genomic testing: a survey of early adopters

Crawford, James M., Bry, Lynn, Pfeifer, John, Caughron, Samuel K., Black-Schaffer, Stephen, Kant, Jeffrey A., Kaufman, Jill H.

Journal:

Genetics in Medicine

Year:

2014

Language:

english

File:

PDF, 450 KB

english, 2014

7

The usefulness of whole-exome sequencing in routine clinical practice

Iglesias, Alejandro, Anyane-Yeboa, Kwame, Wynn, Julia, Wilson, Ashley, Truitt Cho, Megan, Guzman, Edwin, Sisson, Rebecca, Egan, Claire, Chung, Wendy K.

Journal:

Genetics in Medicine

Year:

2014

Language:

english

File:

PDF, 408 KB

english, 2014

8

Translational research is a key to nongeneticist physicians’ genomics education

Feero, W. Gregory, Manolio, Teri A., Khoury, Muin J.

Journal:

Genetics in Medicine

Year:

2014

Language:

english

File:

PDF, 375 KB

english, 2014

9

Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations

Vona, Barbara, Müller, Tobias, Nanda, Indrajit, Neuner, Cordula, Hofrichter, Michaela A. H., Schröder, Jörg, Bartsch, Oliver, Läßig, Anne, Keilmann, Annerose, Schraven, Sebastian, Kraus, Fabian, Sheha

Journal:

Genetics in Medicine

Year:

2014

Language:

english

File:

PDF, 964 KB

english, 2014

10

Noninvasive prenatal testing for autosomal recessive conditions by maternal plasma sequencing in a case of congenital deafness

Meng, Meng, Li, Xuchao, Ge, Huijuan, Chen, Fang, Han, Mingyu, Zhang, Yanyan, Kang, Dongyang, Xie, Weiwei, Gao, Zhiying, Pan, Xiaoyu, Dai, Pu, Chi, Fanglu, Chen, Shengpei, Liu, Ping, Zhang, Chunlei, Ca

Journal:

Genetics in Medicine

Year:

2014

Language:

english

File:

PDF, 335 KB

english, 2014

11

American College of Medical Genetics and Genomics Standards and Guidelines for Clinical Genetics Laboratories, 2014 edition: technical standards and guidelines for Huntington disease

Bean, Lora, Bayrak-Toydemir, Pinar

Journal:

Genetics in Medicine

Year:

2014

Language:

english

File:

PDF, 1.49 MB

english, 2014

12

Reviewer Acknowledgment 2014

Journal:

Genetics in Medicine

Year:

2014

Language:

english

File:

PDF, 178 KB

english, 2014

13

Postanalytical tools improve performance of newborn screening by tandem mass spectrometry

Hall, Patricia L., Marquardt, Gregg, McHugh, David M.S., Currier, Robert J., Tang, Hao, Stoway, Stephanie D., Rinaldo, Piero

Journal:

Genetics in Medicine

Year:

2014

Language:

english

File:

PDF, 626 KB

english, 2014

14

News Briefs

Journal:

Genetics in Medicine

Year:

2014

Language:

english

File:

PDF, 300 KB

english, 2014

15

Public preferences for the return of research results in genetic research: a conjoint analysis

Murphy Bollinger, Juli, Bridges, John F.P., Mohamed, Ateesha, Kaufman, David

Journal:

Genetics in Medicine

Year:

2014

Language:

english

File:

PDF, 559 KB

english, 2014

16

Pregnancy-related deaths and complications in women with vascular Ehlers–Danlos syndrome

Murray, Mitzi L., Pepin, Melanie, Peterson, Suzanne, Byers, Peter H.

Journal:

Genetics in Medicine

Year:

2014

Language:

english

File:

PDF, 1.21 MB

english, 2014

17

Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations

Griffin, Helen R., Pyle, Angela, Blakely, Emma L., Alston, Charlotte L., Duff, Jennifer, Hudson, Gavin, Horvath, Rita, Wilson, Ian J., Santibanez-Koref, Mauro, Taylor, Robert W., Chinnery, Patrick F.

Journal:

Genetics in Medicine

Year:

2014

Language:

english

File:

PDF, 853 KB

english, 2014

18

Michael Kaback: people and places

Kaback, Michael M.

Journal:

Genetics in Medicine

Year:

2014

Language:

english

File:

PDF, 314 KB

english, 2014

19

Genomics education for Veterans Affairs nurses

Schaa, Kendra L., Anderson, Gwen, Alt-White, Anna C., Kasper, Christine E., Boyd, Andrea M.

Journal:

Genetics in Medicine

Year:

2014

Language:

english

File:

PDF, 319 KB

english, 2014

20

Multifactorial beliefs about the role of genetics and behavior in common health conditions: prevalence and associations with participant characteristics and engagement in health behaviors

Waters, Erika A., Muff, Jaclyn, Hamilton, Jada G.

Journal:

Genetics in Medicine

Year:

2014

Language:

english

File:

PDF, 507 KB

english, 2014

21

Vascular Ehlers–Danlos syndrome, pixels, and high-definition clinical genomics

Murray, Michael F.

Journal:

Genetics in Medicine

Year:

2014

Language:

english

File:

PDF, 307 KB

english, 2014

22

Survival is affected by mutation type and molecular mechanism in vascular Ehlers–Danlos syndrome (EDS type IV)

Pepin, Melanie G., Schwarze, Ulrike, Rice, Kenneth M., Liu, Mingdong, Leistritz,, Dru, Byers, Peter H.

Journal:

Genetics in Medicine

Year:

2014

Language:

english

File:

PDF, 503 KB

english, 2014

23

In This Issue

Journal:

Genetics in Medicine

Year:

2014

Language:

english

File:

PDF, 190 KB

english, 2014

24

Erratum: Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer

Journal:

Genetics in Medicine

Year:

2014

File:

PDF, 407 KB

2014

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