Volume 16; Issue 10

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Genetics in Medicine
Volume 16; Issue 10

Genetics in Medicine

Volume 16; Issue 10

1

The shifting model in clinical diagnostics: how next-generation sequencing and families are altering the way rare diseases are discovered, studied, and treated

Might, Matthew, Wilsey, Matt

Journal:

Genetics in Medicine

Year:

2014

Language:

english

File:

PDF, 334 KB

english, 2014

2

The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience

Lawrence, Lauren, Sincan, Murat, Markello, Thomas, Adams, David R., Gill, Fred, Godfrey, Rena, Golas, Gretchen, Groden, Catherine, Landis, Dennis, Nehrebecky, Michele, Park, Grace, Soldatos, Ariane, T

Journal:

Genetics in Medicine

Year:

2014

Language:

english

File:

PDF, 435 KB

english, 2014

3

Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway

Enns, Gregory M., Shashi, Vandana, Bainbridge, Matthew, Gambello, Michael J., Zahir, Farah R., Bast, Thomas, Crimian, Rebecca, Schoch, Kelly, Platt, Julia, Cox, Rachel, Bernstein, Jonathan A., Scavina

Journal:

Genetics in Medicine

Year:

2014

Language:

english

File:

PDF, 597 KB

english, 2014

4

Deep sequencing with intronic capture enables identification of an APC exon 10 inversion in a patient with polyposis

Shirts, Brian H., Salipante, Stephen J., Casadei, Silvia, Ryan, Shawnia, Martin, Judith, Jacobson, Angela, Vlaskin, Tatyana, Koehler, Karen, Livingston, Robert J., King, Mary-Claire, Walsh, Tom, Pritc

Journal:

Genetics in Medicine

Year:

2014

Language:

english

File:

PDF, 676 KB

english, 2014

5

Genetic counseling for women referred for advanced maternal age: a telegenetic approach

Gualandi, Francesca, Bigoni, Stefania, Melchiorri, Loredana, Buldrini, Barbara, Balboni, Alessandra, Neri, Marcella, Armaroli, Annarita, Parmeggiani, Giulia, Italyankina, Eleonora, Mauro, Antonio, Rav

Journal:

Genetics in Medicine

Year:

2014

Language:

english

File:

PDF, 334 KB

english, 2014

6

Underutilization of specimens in biobanks: an ethical as well as a practical concern?

Cadigan, R. Jean, Juengst, Eric, Davis, Arlene, Henderson, Gail

Journal:

Genetics in Medicine

Year:

2014

Language:

english

File:

PDF, 316 KB

english, 2014

7

Response to Drábek and Cereda

Ryan, Allison, Demko, Zachary, Sigurjonsson, Styrmir, Rabinowitz, Matthew

Journal:

Genetics in Medicine

Year:

2014

Language:

english

File:

PDF, 588 KB

english, 2014

8

A germline missense mutation in COQ6 is associated with susceptibility to familial schwannomatosis

Zhang, Keqiang, Lin, Jia-Wei, Wang, Jinhui, Wu, Xiwei, Gao, Hanlin, Hsieh, Yi-Chen, Hwu, Peter, Liu, Yun-Ru, Su, Leila, Chiou, Hung-Yi, Wang, Daidong, Yuan, Yate-Ching, Whang-Peng, Jacqueline, Chiu, W

Journal:

Genetics in Medicine

Year:

2014

Language:

english

File:

PDF, 1.20 MB

english, 2014

9

Interpreting noninvasive prenatal paternity tests

Drábek, Jiří, Cereda, Giulia

Journal:

Genetics in Medicine

Year:

2014

Language:

english

File:

PDF, 468 KB

english, 2014

10

News Briefs

Journal:

Genetics in Medicine

Year:

2014

Language:

english

File:

PDF, 425 KB

english, 2014

11

The natural history of MPS I: global perspectives from the MPS I Registry

Beck, Michael, Arn, Pamela, Giugliani, Roberto, Muenzer, Joseph, Okuyama, Torayuki, Taylor, John, Fallet, Shari

Journal:

Genetics in Medicine

Year:

2014

Language:

english

File:

PDF, 499 KB

english, 2014

12

Clinical course of patients with Fabry disease who were switched from agalsidase-β to agalsidase-α

Tsuboi, Kazuya, Yamamoto, Hiroshi

Journal:

Genetics in Medicine

Year:

2014

Language:

english

File:

PDF, 1.37 MB

english, 2014

13

Comparing universal Lynch syndrome tumor-screening programs to evaluate associations between implementation strategies and patient follow-through

Cragun, Deborah, DeBate, Rita D., Vadaparampil, Susan T., Baldwin, Julie, Hampel, Heather, Pal, Tuya

Journal:

Genetics in Medicine

Year:

2014

Language:

english

File:

PDF, 487 KB

english, 2014

14

Social and behavioral research in genomic sequencing: approaches from the Clinical Sequencing Exploratory Research Consortium Outcomes and Measures Working Group

Gray, Stacy W., Martins, Yolanda, Feuerman, Lindsay Z., Bernhardt, Barbara A., Biesecker, Barbara B., Christensen, Kurt D., Joffe, Steven, Rini, Christine, Veenstra, David, McGuire, Amy L.

Journal:

Genetics in Medicine

Year:

2014

Language:

english

File:

PDF, 449 KB

english, 2014

15

In This Issue

Journal:

Genetics in Medicine

Year:

2014

Language:

english

File:

PDF, 481 KB

english, 2014

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