Volume 15; Issue 7

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Genetics in Medicine
Volume 15; Issue 7

Genetics in Medicine

Volume 15; Issue 7

1

ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics

Monaghan, Kristin G., Lyon, Elaine, Spector, Elaine B.

Journal:

Genetics in Medicine

Year:

2013

Language:

english

File:

PDF, 727 KB

english, 2013

2

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

Green, Robert C., Berg, Jonathan S., Grody, Wayne W., Kalia, Sarah S., Korf, Bruce R., Martin, Christa L., McGuire, Amy L., Nussbaum, Robert L., O’Daniel, Julianne M., Ormond, Kelly E., Rehm, Heidi L.

Journal:

Genetics in Medicine

Year:

2013

Language:

english

File:

PDF, 426 KB

english, 2013

3

Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype

de Heredia, Miguel López, Clèries, Ramón, Nunes, Virginia

Journal:

Genetics in Medicine

Year:

2013

Language:

english

File:

PDF, 893 KB

english, 2013

4

Attitudes of Canadian researchers toward the return to participants of incidental and targeted genomic findings obtained in a pediatric research setting

Fernandez, Conrad V., Strahlendorf, Caron, Avard, Denise, Knoppers, Bartha M., O’Connell, Colleen, Bouffet, Eric, Malkin, David, Jabado, Nada, Boycott, Kym, Sorensen, Poul H.

Journal:

Genetics in Medicine

Year:

2013

Language:

english

File:

PDF, 474 KB

english, 2013

5

Assessing genotype–phenotype correlation in Costello syndrome using a severity score

McCormick, Elizabeth M., Hopkins, Elizabeth, Conway, Laura, Catalano, Sarah, Hossain, Jobayer, Sol-Church, Katia, Stabley, Deborah L., Gripp, Karen W.

Journal:

Genetics in Medicine

Year:

2013

Language:

english

File:

PDF, 369 KB

english, 2013

6

Recommendations from the EGAPP Working Group: can testing of tumor tissue for mutations in EGFR pathway downstream effector genes in patients with metastatic colorectal cancer improve health outcomes by guiding decisions regarding anti-EGFR therapy?

Journal:

Genetics in Medicine

Year:

2013

Language:

english

File:

PDF, 456 KB

english, 2013

7

Primary-care physicians’ access to genetic specialists: an impediment to the routine use of genomic medicine?

Haga, Susanne B., Burke, Wylie, Agans, Robert

Journal:

Genetics in Medicine

Year:

2013

Language:

english

File:

PDF, 326 KB

english, 2013

8

Cascade carrier testing after a child is diagnosed with cystic fibrosis through newborn screening: investigating why most relatives do not have testing

McClaren, Belinda J., Aitken, MaryAnne, Massie, John, Amor, David, Ukoumunne, Obioha C., Metcalfe, Sylvia A.

Journal:

Genetics in Medicine

Year:

2013

Language:

english

File:

PDF, 501 KB

english, 2013

9

When is a medical finding “incidental”?

Evans, James P.

Journal:

Genetics in Medicine

Year:

2013

Language:

english

File:

PDF, 334 KB

english, 2013

10

Creation of a national resource with linked genealogy and phenotypic data: the Veterans Genealogy Project

Cannon-Albright, Lisa A., Dintelman, Sue, Maness, Tim, Backus, Steve, Thomas, Alun, Meyer, Laurence J.

Journal:

Genetics in Medicine

Year:

2013

Language:

english

File:

PDF, 536 KB

english, 2013

11

Cognitive characteristics of PTEN hamartoma tumor syndromes

Busch, Robyn M., Chapin, Jessica S., Mester, Jessica, Ferguson, Lisa, Haut, Jennifer S., Frazier, Thomas W., Eng, Charis

Journal:

Genetics in Medicine

Year:

2013

Language:

english

File:

PDF, 451 KB

english, 2013

12

A clinical appraisal of different Z-score equations for aortic root assessment in the diagnostic evaluation of Marfan syndrome

van Kimmenade, Roland R.J., Kempers, Marlies, de Boer, Menko-Jan, Loeys, Bart L., Timmermans, Janneke

Journal:

Genetics in Medicine

Year:

2013

Language:

english

File:

PDF, 567 KB

english, 2013

13

Beyond the genomics blueprint: the 4th Human Variome Project Meeting, UNESCO, Paris, 2012

Kohonen-Corish, Maija R.J., Smith, Timothy D., Robinson, Helen M.

Journal:

Genetics in Medicine

Year:

2013

Language:

english

File:

PDF, 379 KB

english, 2013

14

ERRATUM: Novel candidate genes and regions for childhood apraxia of speech identified by array comparative genomic hybridization

Journal:

Genetics in Medicine

Year:

2013

Language:

english

File:

PDF, 285 KB

english, 2013

15

News Briefs

Journal:

Genetics in Medicine

Year:

2013

Language:

english

File:

PDF, 249 KB

english, 2013

16

In This Issue

Journal:

Genetics in Medicine

Year:

2013

Language:

english

File:

PDF, 249 KB

english, 2013