Friday, August 3, 2012

Genetics in Medicine contents: Volume 14, Issue 8


TABLE OF CONTENTS

Volume 14, Issue 8 (August 2012)

In this issue
Research Highlights
Review
Special Article
Original Research Article
Brief Reports
Letter to the Editor
ACMG Policy Statement
Corrigendum
Podcast

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Genetics in Medicine (GIM), the official journal of the American College of Medical Genetics and Genomics, 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. Submit to GIM today!
 

Research Highlights

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In This Issue

Genet Med 2012 14: 701; 10.1038/gim.2012.97

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News Briefs

Genet Med 2012 14: 702; 10.1038/gim.2012.98

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Review

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Decision analysis, economic evaluation, and newborn screening: challenges and opportunities

Lisa A. Prosser, Scott D. Grosse, Alex R. Kemper, Beth A. Tarini and James M. Perrin

Genet Med 2012 14: 703-712; advance online publication, April 5, 2012; 10.1038/gim.2012.24

Abstract | Full Text

Special Article

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Communicating new knowledge on previously reported genetic variants

Samuel J. Aronson, Eugene H. Clark, Matthew Varugheese, Samantha Baxter, Lawrence J. Babb and Heidi L. Rehm

Genet Med 2012 14: 713-719; advance online publication, April 5, 2012; 10.1038/gim.2012.19

Abstract | Full Text

Original Research Articles

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Colorectal cancer risk is not associated with increased levels of homozygosity in Saudi Arabia

Abdul K. Siraj, Hanif G. Khalak, Mehar Sultana, Maha Al-Rasheed, Prashant Bavi, Nasser Al-Sanea, Fouad Al-Dayel, Shahab Uddin, Fowzan S. Alkuraya and Khawla S. Al-Kuraya

Genet Med 2012 14: 720-728; advance online publication, April 5, 2012; 10.1038/gim.2012.27

Abstract | Full Text

AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome

Carolyn M. Yrigollen, Blythe Durbin-Johnson, Louise Gane, David L. Nelson, Randi Hagerman, Paul J. Hagerman and Flora Tassone

Genet Med 2012 14: 729-736; advance online publication, April 12, 2012; 10.1038/gim.2012.34

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Bone mineral density in glycogen storage disease type Ia and Ib

Laurie A. Minarich, Alexander Kirpich, Laurie M. Fiske and David A. Weinstein

Genet Med 2012 14: 737-741; advance online publication, April 5, 2012; 10.1038/gim.2012.36

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Effectiveness of a condensed protocol for disclosing APOE genotype and providing risk education for Alzheimer disease

J. Scott Roberts, Clara A. Chen, Wendy R. Uhlmann and Robert C. Green ; for the REVEAL Study Group

Genet Med 2012 14: 742-748; advance online publication, April 12, 2012; 10.1038/gim.2012.37

Abstract | Full Text

Brief Reports

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Genetic testing for inherited heart diseases: longitudinal impact on health-related quality of life

Jodie Ingles, Laura Yeates, Lisa O’Brien, Julie McGaughran, Paul A. Scuffham, John Atherton and Christopher Semsarian

Genet Med 2012 14: 749-752; advance online publication, May 3, 2012; 10.1038/gim.2012.47

Abstract | Full Text

Uniparental disomy: can SNP array data be used for diagnosis?

Tracy Tucker, Kamilla Schlade-Bartusiak, Patrice Eydoux, Tanya N. Nelson and Lindsay Brown

Genet Med 2012 14: 753-756; advance online publication, April 26, 2012; 10.1038/gim.2012.35

Abstract | Full Text

Letter to the Editor

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Correction of a short cardiac PR interval in a 12-year-old girl with late-onset Pompe disease following enzyme replacement therapy

Cristina Fernández, Agustín Legido, Reena Jethva and Harold G. Marks

Genet Med 2012 14: 757-758; 10.1038/gim.2012.61

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ACMG Policy Statement

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Points to consider in the clinical application of genomic sequencing

ACMG Board of Directors

Genet Med 2012 14: 759-761; 10.1038/gim.2012.74

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Corrigendum

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CORRIGENDUM: Clinical observation of patients with Fabry disease after switching from agalsidase beta (Fabrazyme) to agalsidase alfa (Replagal)

Genet Med 2012 14: 762; 10.1038/gim.2012.62

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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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