Tuesday, April 8, 2014

Genetics in Medicine contents: Volume 16, Issue 4

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Genetics in Medicine

TABLE OF CONTENTS

Volume 16, Issue 4 (April 2014)

In this issue
Research Highlights
Review
Original Research Articles
EGAPP Recommendation Statement
ACMG Practice Guidelines
Corrigendum
Podcast

Research Highlights

Top

In This Issue

Genet Med 2014 16: 279; 10.1038/gim.2014.27

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News Briefs

Genet Med 2014 16: 279-280; 10.1038/gim.2014.32

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Review

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Noninvasive prenatal testing: limitations and unanswered questions

Monica A. Lutgendorf, Katie A. Stoll, Dana M. Knutzen and Lisa M. Foglia

Genet Med 2014 16: 281-285; advance online publication, September 5, 2013; 10.1038/gim.2013.126

Abstract | Full Text

Original Research Articles

Top

Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment

Jipin Das K, Jodie Ingles, Richard D. Bagnall and Christopher Semsarian

Genet Med 2014 16: 286-293; advance online publication, October 10, 2013; 10.1038/gim.2013.138

Abstract | Full Text

Communication of genetic test results to family and health-care providers following disclosure of research results

Kristi D. Graves, Pamela S. Sinicrope, Mary Jane Esplen, Susan K. Peterson, Christi A. Patten, Jan Lowery, Frank A. Sinicrope, Sandra K. Nigon, Joyce Borgen, Sherri Sheinfeld Gorin, Louise A. Keogh and Noralane M. Lindor for the Behavioral Working Group of the Colon Cancer Family Registry

Genet Med 2014 16: 294-301; advance online publication, October 3, 2013; 10.1038/gim.2013.137

Abstract | Full Text

Familial incidence and associated symptoms in a population of individuals with nonsyndromic craniosynostosis

Jaclyn Greenwood, Pamela Flodman, Kathryn Osann, Simeon A. Boyadjiev and Virginia Kimonis

Genet Med 2014 16: 302-310; advance online publication, September 26, 2013; 10.1038/gim.2013.134

Abstract | Full Text

Processes and factors involved in decisions regarding return of incidental genomic findings in research

Robert Klitzman, Brigitte Buquez, Paul S. Appelbaum, Abby Fyer and Wendy K. Chung

Genet Med 2014 16: 311-317; advance online publication, September 26, 2013; 10.1038/gim.2013.140

Abstract | Full Text

22q13.2q13.32 genomic regions associated with severity of speech delay, developmental delay, and physical features in Phelan–McDermid syndrome

Sara M. Sarasua, Alka Dwivedi, Luigi Boccuto, Chin-Fu Chen, Julia L. Sharp, Jonathan D. Rollins, Julianne S. Collins, R. Curtis Rogers, Katy Phelan and Barbara R. DuPont

Genet Med 2014 16: 318-328; advance online publication, October 17, 2013; 10.1038/gim.2013.144

Abstract | Full Text

Factors affecting maternal participation in the genetic component of the National Birth Defects Prevention Study—United States, 1997–2007

Jill Glidewell, Jennita Reefhuis, Sonja A. Rasmussen, Alison Woomert, Charlotte Hobbs, Paul A. Romitti and Krista S. Crider

Genet Med 2014 16: 329-337; advance online publication, September 26, 2013; 10.1038/gim.2013.143

Abstract | Full Text

EGAPP Recommendation Statement

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Recommendations from the EGAPP Working Group: does PCA3 testing for the diagnosis and management of prostate cancer improve patient health outcomes?

Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group*

Genet Med 2014 16: 338-346; advance online publication, September 26, 2013; 10.1038/gim.2013.141

Abstract | Full Text

ACMG Practice Guidelines

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American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss

Raye L. Alford, Kathleen S. Arnos, Michelle Fox, Jerry W. Lin, Christina G. Palmer, Arti Pandya, Heidi L. Rehm, Nathaniel H. Robin, Daryl A. Scott and Christine Yoshinaga-Itano ; ACMG Working Group on Update of Genetics Evaluation Guidelines for the Etiologic Diagnosis of Congenital Hearing Loss; for the Professional Practice and Guidelines Committee

Genet Med 2014 16: 347-355; advance online publication, March 20, 2014; 10.1038/gim.2014.2

Abstract | Full Text

Corrigendum

Top

Corrigendum: Phenylalanine hydroxylase deficiency: diagnosis and management guideline

Genet Med 2014 16: 356; 10.1038/gim.2014.15

Full Text

Podcast

Top

Podcast

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