Volume 14; Issue 10

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Genetics in Medicine
Volume 14; Issue 10

Genetics in Medicine

Volume 14; Issue 10

1

Public awareness and use of direct-to-consumer personal genomic tests from four state population-based surveys, and implications for clinical and public health practice

Kolor, Katherine, Duquette, Debra, Zlot, Amy, Foland, Joan, Anderson, Beth, Giles, Rebecca, Wrathall, Jennifer, Khoury, Muin J.

Journal:

Genetics in Medicine

Year:

2012

Language:

english

File:

PDF, 306 KB

english, 2012

2

Functional outcomes of adults with 22q11.2 deletion syndrome

Butcher, Nancy J., Chow, Eva W.C., Costain, Gregory, Karas, Dominique, Ho, Andrew, Bassett, Anne S.

Journal:

Genetics in Medicine

Year:

2012

Language:

english

File:

PDF, 303 KB

english, 2012

3

Diagnostic approaches to apparent homozygosity

Landsverk, Megan L., Douglas, Ganka V., Tang, Sha, Zhang, Victor W., Wang, Guo-Li, Wang, Jing, Wong, Lee-Jun C.

Journal:

Genetics in Medicine

Year:

2012

Language:

english

File:

PDF, 285 KB

english, 2012

4

Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A

Campbell, Ian M., Yatsenko, Svetlana A., Hixson, Patricia, Reimschisel, Tyler, Thomas, Matthew, Wilson, William, Dayal, Usha, Wheless, James W., Crunk, Amy, Curry, Cynthia, Parkinson, Nicole, Fishman,

Journal:

Genetics in Medicine

Year:

2012

Language:

english

File:

PDF, 941 KB

english, 2012

5

Report on the p.Ser489X (p.Ser489*) CFTR mutation, a variant with severe associated phenotype and high prevalence in a Quebec French-Canadian cystic fibrosis patient population

De Bie, Isabelle, Agatep, Ron, Scott, Patrick, Ruchon, Andrea

Journal:

Genetics in Medicine

Year:

2012

Language:

english

File:

PDF, 215 KB

english, 2012

6

Prenatal healthcare providers’ Gaucher disease carrier screening practices

Falcone, Dana, Wood, Elisabeth McCarty, Mennuti, Michael, Xie, Sharon X., Van Deerlin, Vivianna M.

Journal:

Genetics in Medicine

Year:

2012

File:

PDF, 314 KB

2012

7

Prenatal healthcare providers’ Gaucher disease carrier screening practices

Falcone, Dana, Wood, Elisabeth McCarty, Mennuti, Michael, Xie, Sharon X., Van Deerlin, Vivianna M.

Journal:

Genetics in Medicine

Year:

2012

Language:

english

File:

PDF, 314 KB

english, 2012

8

Association between health-service use and multiplex genetic testing

Reid, Robert J., McBride, Colleen M., Alford, Sharon Hensley, Price, Cristofer, Baxevanis, Andreas D., Brody, Lawrence C., Larson, Eric B.

Journal:

Genetics in Medicine

Year:

2012

Language:

english

File:

PDF, 280 KB

english, 2012

9

Customers or research participants?: Guidance for research practices in commercialization of personal genomics

Tobin, Sara L., Cho, Mildred K., Lee, Sandra S.-J., Magnus, David C., Allyse, Megan, Ormond, Kelly E., Garrison, Nanibaa’ A.

Journal:

Genetics in Medicine

Year:

2012

Language:

english

File:

PDF, 197 KB

english, 2012

10

In This Issue

Journal:

Genetics in Medicine

Year:

2012

Language:

english

File:

PDF, 291 KB

english, 2012

11

News Briefs

Journal:

Genetics in Medicine

Year:

2012

Language:

english

File:

PDF, 110 KB

english, 2012

12

ACMG College news

Journal:

Genetics in Medicine

Year:

2012

Language:

english

File:

PDF, 235 KB

english, 2012

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