Volume 15; Issue 9

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Genetics in Medicine
Volume 15; Issue 9

Genetics in Medicine

Volume 15; Issue 9

1

Density matters: comparison of array platforms for detection of copy-number variation and copy-neutral abnormalities

Mason-Suares, Heather, Kim, Wayne, Grimmett, Leslie, Williams, Eli S., Horner, Vanessa L., Kunig, Dawn, Goldlust, Ian S., Wu, Bai-Lin, Shen, Yiping, Miller, David T., Martin, Christa L., Rudd, M. Kath

Journal:

Genetics in Medicine

Year:

2013

Language:

english

File:

PDF, 991 KB

english, 2013

2

Self-guided management of exome and whole-genome sequencing results: changing the results return model

Yu, Joon-Ho, Jamal, Seema M., Tabor, Holly K., Bamshad, Michael J.

Journal:

Genetics in Medicine

Year:

2013

Language:

english

File:

PDF, 620 KB

english, 2013

3

ACMG clinical laboratory standards for next-generation sequencing

Rehm, Heidi L., Bale, Sherri J., Bayrak-Toydemir, Pinar, Berg, Jonathan S., Brown, Kerry K., Deignan, Joshua L., Friez, Michael J., Funke, Birgit H., Hegde, Madhuri R., Lyon, Elaine

Journal:

Genetics in Medicine

Year:

2013

Language:

english

File:

PDF, 476 KB

english, 2013

4

Hereditary ataxias: overview

Jayadev, Suman, Bird, Thomas D.

Journal:

Genetics in Medicine

Year:

2013

Language:

english

File:

PDF, 383 KB

english, 2013

5

Discussing the psychiatric manifestations of 22q11.2 deletion syndrome: an exploration of clinical practice among medical geneticists

Morris, Emily, Inglis, Angela, Friedman, Jan, Austin, Jehannine

Journal:

Genetics in Medicine

Year:

2013

Language:

english

File:

PDF, 452 KB

english, 2013

6

Paternalism and the ACMG recommendations on genomic incidental findings: patients seen but not heard

Townsend, Anne, Adam, Shelin, Birch, Patricia H., Friedman, Jan M.

Journal:

Genetics in Medicine

Year:

2013

Language:

english

File:

PDF, 71 KB

english, 2013

7

Runs of homozygosity and parental relatedness

Rosenberg, Noah A., Pemberton, Trevor J., Li, Jun Z., Belmont, John W.

Journal:

Genetics in Medicine

Year:

2013

Language:

english

File:

PDF, 71 KB

english, 2013

8

Description and pilot results from a novel method for evaluating return of incidental findings from next-generation sequencing technologies

Goddard, Katrina A.B., Whitlock, Evelyn P., Berg, Jonathan S., Williams, Marc S., Webber, Elizabeth M., Webster, Jennifer A., Lin, Jennifer S., Schrader, Kasmintan A., Campos-Outcalt, Doug, Offit, Ken

Journal:

Genetics in Medicine

Year:

2013

Language:

english

File:

PDF, 331 KB

english, 2013

9

Points to consider for informed consent for genome/exome sequencing

Journal:

Genetics in Medicine

Year:

2013

Language:

english

File:

PDF, 237 KB

english, 2013

10

Positive cell-free fetal DNA testing for trisomy 13 reveals confined placental mosaicism

Hall, April L., Drendel, Holli M., Verbrugge, Jennifer L., Reese, Angela M., Schumacher, Katherine L., Griffith, Christopher B., Weaver, David D., Abernathy, Mary P., Litton, Christian G., Vance, Gail

Journal:

Genetics in Medicine

Year:

2013

Language:

english

File:

PDF, 282 KB

english, 2013

11

The association of low socioeconomic status and the risk of having a child with Down syndrome: a report from the National Down Syndrome Project

Hunter, Jessica Ezzell, Allen, Emily Graves, Shin, Mikyong, Bean, Lora J.H., Correa, Adolfo, Druschel, Charlotte, Hobbs, Charlotte A., O’Leary, Leslie A., Romitti, Paul A., Royle, Marjorie H., Torfs,

Journal:

Genetics in Medicine

Year:

2013

Language:

english

File:

PDF, 329 KB

english, 2013

12

ACMG recommendations on incidental findings are flawed scientifically and ethically

Holtzman, Neil A.

Journal:

Genetics in Medicine

Year:

2013

Language:

english

File:

PDF, 118 KB

english, 2013

13

Response to Rosenberg et al.

Rehder, Catherine W., David, Karen L., Hirsch, Betsy, Toriello, Helga V., Wilson, Carolyn M., Kearney, Hutton M.

Journal:

Genetics in Medicine

Year:

2013

Language:

english

File:

PDF, 64 KB

english, 2013

14

Growth behavior of plexiform neurofibromas after surgery

Nguyen, Rosa, Ibrahim, Chadi, Friedrich, Reinhard E., Westphal, Manfred, Schuhmann, Martin, Mautner, Victor-Felix

Journal:

Genetics in Medicine

Year:

2013

Language:

english

File:

PDF, 392 KB

english, 2013

15

Response to Townsend et al.

Journal:

Genetics in Medicine

Year:

2013

Language:

english

File:

PDF, 71 KB

english, 2013

16

Editorial

Journal:

Genetics in Medicine

Year:

2013

Language:

english

File:

PDF, 178 KB

english, 2013

17

In This Issue

Journal:

Genetics in Medicine

Year:

2013

Language:

english

File:

PDF, 327 KB

english, 2013