Wednesday, July 2, 2014

Genetics in Medicine contents: Volume 16, Issue 7

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Genetics in Medicine

TABLE OF CONTENTS

Volume 16, Issue 7 (July 2014)

In this issue
Research Highlights
Review
Special Article
Original Research Article
Brief Report
Corrigendum

Research Highlights

Top

In this Issue

Genet Med 2014 16: 495; 10.1038/gim.2014.73

Full Text

News Briefs

Genet Med 2014 16: 495-496; 10.1038/gim.2014.78

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Review

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In silico tools for splicing defect prediction: a survey from the viewpoint of end users

Xueqiu Jian, Eric Boerwinkle and Xiaoming Liu

Genet Med 2013 16: 497-503; advance online publication, November 21, 2013; 10.1038/gim.2013.176

Abstract | Full Text

Special Article

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Mining the human genome after Association for Molecular Pathology v. Myriad Genetics OPEN

Barbara J Evans

Genet Med 2013 16: 504-509; advance online publication, December 19, 2013; 10.1038/gim.2013.186

Abstract | Full Text

Original Research Articles

Top

Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory

Samuel P. Strom, Hane Lee, Kingshuk Das, Eric Vilain, Stanley F. Nelson, Wayne W. Grody and Joshua L. Deignan

Genet Med 2014 16: 510-515; advance online publication, January 9, 2014; 10.1038/gim.2013.183

Abstract | Full Text

The Angelina effect: immediate reach, grasp, and impact of going public

Dina L.G. Borzekowski, Yue Guan, Katherine C. Smith, Lori H. Erby and Debra L. Roter

Genet Med 2013 16: 516-521; advance online publication, December 19, 2013; 10.1038/gim.2013.181

Abstract | Full Text

Angelina Jolie’s faulty gene: newspaper coverage of a celebrity’s preventive bilateral mastectomy in Canada, the United States, and the United Kingdom

Kalina Kamenova, Amir Reshef and Timothy Caulfield

Genet Med 2013 16: 522-528; advance online publication, December 19, 2013; 10.1038/gim.2013.199

Abstract | Full Text

Large numbers of individuals are required to classify and define risk for rare variants in known cancer risk genes

Brian H. Shirts, Angela Jacobson, Gail P. Jarvik and Brian L. Browning

Genet Med 2013 16: 529-534; advance online publication, December 19, 2013; 10.1038/gim.2013.187

Abstract | Full Text

Horizon scanning for translational genomic research beyond bench to bedside

Mindy Clyne, Sheri D. Schully, W. David Dotson, Michael P. Douglas, Marta Gwinn, Katherine Kolor, Anja Wulf, M. Scott Bowen and Muin J. Khoury

Genet Med 2014 16: 535-538; advance online publication, January 9, 2014; 10.1038/gim.2013.184

Abstract | Full Text

Cystic fibrosis carrier screening in a North American population

Val V. Zvereff, Hawazin Faruki, Marcia Edwards and Kenneth J. Friedman

Genet Med 2013 16: 539-546; advance online publication, December 19, 2013; 10.1038/gim.2013.188

Abstract | Full Text

Guidelines for return of research results from pediatric genomic studies: deliberations of the Boston Children’s Hospital Gene Partnership Informed Cohort Oversight Board

Ingrid A. Holm, Sarah K. Savage, Robert C. Green, Eric Juengst, Amy McGuire, Susan Kornetsky, Stephanie J. Brewster, Steven Joffe and Patrick Taylor

Genet Med 2014 16: 547-552; advance online publication, January 9, 2014; 10.1038/gim.2013.190

Abstract | Full Text

Prostate cancer incidence in males with Lynch syndrome

Sigurdis Haraldsdottir, Heather Hampel, Lai Wei, Christina Wu, Wendy Frankel, Tanios Bekaii-Saab, Albert de la Chapelle and Richard M. Goldberg

Genet Med 2014 16: 553-557; advance online publication, January 16, 2014; 10.1038/gim.2013.193

Abstract | Full Text

Predictive genetic testing experience for myocilin primary open-angle glaucoma using the Australian and New Zealand Registry of Advanced Glaucoma

Emmanuelle Souzeau, Jodi Glading, Miriam Keane, Bronwyn Ridge, Tiger Zhou, Kathryn P. Burdon and Jamie E. Craig

Genet Med 2014 16: 558-563; advance online publication, January 9, 2014; 10.1038/gim.2013.196

Abstract | Full Text

Brief Report

Top

Noninvasive prenatal diagnosis in a fetus at risk for methylmalonic acidemia

Wei Gu, Winston Koh, Yair J. Blumenfeld, Yasser Y. El-Sayed, Louanne Hudgins, Susan R. Hintz and Stephen R. Quake

Genet Med 2014 16: 564-567; advance online publication, January 9, 2014; 10.1038/gim.2013.194

Abstract | Full Text

Corrigendum

Top

CORRIGENDUM: Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway

Genet Med 2014 16: 568; 10.1038/gim.2014.61

Full Text

Podcast

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Podcast

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