Friday, October 5, 2012

Genetics in Medicine contents: Volume 14, Issue 10


TABLE OF CONTENTS

Volume 14, Issue 10 (October 2012)

In this issue
Research Highlights
Special Article
Original Research Articles
Brief Reports
ACMG College News
Podcast

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Genetics in Medicine (GIM) is the official journal of the American College of Medical Genetics with a mission to enhance the knowledge and practice of medical genetics and genomics. This peer-reviewed monthly journal offers an unprecedented forum for the presentation of innovative, clinically relevant papers in contemporary genetic medicine. GIM is a must read for all physicians wishing to apply new genetic findings to their medical practice. 

Recommend GIM to your library today!  
 

Research Highlights

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In This Issue

Genet Med 2012 14: 831; 10.1038/gim.2012.125

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News Briefs

Genet Med 2012 14: 831-832; 10.1038/gim.2012.132

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Special Article

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

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

Genet Med 2012 14: 833-835; advance online publication, June 14, 2012; 10.1038/gim.2012.64

Abstract | Full Text

Original Research Articles

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Functional outcomes of adults with 22q11.2 deletion syndrome

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

Genet Med 2012 14: 836-843; advance online publication, June 28, 2012; 10.1038/gim.2012.66

Abstract | Full Text

Prenatal healthcare providers’ Gaucher disease carrier screening practices

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

Genet Med 2012 14: 844-851; advance online publication, May 31, 2012; 10.1038/gim.2012.63

Abstract | Full Text

Association between health-service use and multiplex genetic testing

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

Genet Med 2012 14: 852-859; advance online publication, May 17, 2012; 10.1038/gim.2012.52

Abstract | Full Text

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

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

Genet Med 2012 14: 860-867; advance online publication, July 19, 2012; 10.1038/gim.2012.67

Abstract | Full Text

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

Ian M. Campbell, Svetlana A. Yatsenko, Patricia Hixson, Tyler Reimschisel, Matthew Thomas, William Wilson, Usha Dayal, James W. Wheless, Amy Crunk, Cynthia Curry, Nicole Parkinson, Leona Fishman, James J. Riviello, Malgorzata J.M. Nowaczyk, Susan Zeesman, Jill A. Rosenfeld, Bassem A. Bejjani, Lisa G. Shaffer, Sau Wai Cheung, James R. Lupski, Pawel Stankiewicz and Fernando Scaglia

Genet Med 2012 14: 868-876; advance online publication, June 21, 2012; 10.1038/gim.2012.65

Abstract | Full Text

Brief Reports

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Diagnostic approaches to apparent homozygosity

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

Genet Med 2012 14: 877-882; advance online publication, May 17, 2012; 10.1038/gim.2012.58

Abstract | Full Text

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

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

Genet Med 2012 14: 883-886; advance online publication, May 24, 2012; 10.1038/gim.2012.57

Abstract | Full Text

ACMG College News

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ACMG College news

Genet Med 2012 14: 887; 10.1038/gim.2012.126

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Podcast

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Podcast

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Genepod - the monthly podcast from Genetics in Medicine  

Join us as we delve into the latest research in medical genetics and genomics, featuring highlighted content from this leading journal. Genepod and the contents of GIM should be of interest to anyone who uses genetics or genomics in medical practice or in medically-related research.

Listen now at www.nature.com/gim/podcast  
 

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