Tuesday, May 6, 2014

Genetics in Medicine contents: Volume 16, Issue 5

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Genetics in Medicine

TABLE OF CONTENTS

Volume 16, Issue 5 (May 2014)

In this issue
Research Highlights
Original Research Articles
Brief Report
Podcast

Research Highlights

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In This Issue

Genet Med 2014 16: 357; 10.1038/gim.2014.33

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News Briefs

Genet Med 2014 16: 357-358; 10.1038/gim.2014.34

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Original Research Articles

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A multicenter open-label treatment protocol (HGT-GCB-058) of velaglucerase alfa enzyme replacement therapy in patients with Gaucher disease type 1: safety and tolerability OPEN

Gregory M. Pastores, Barry Rosenbloom, Neal Weinreb, Ozlem Goker-Alpan, Gregory Grabowski, Gabriel M. Cohn and David Zahrieh

Genet Med 2013 16: 359-366; advance online publication, November 21, 2013; 10.1038/gim.2013.154

Abstract | Full Text

Informed consent for return of incidental findings in genomic research

Paul S. Appelbaum, Cameron R. Waldman, Abby Fyer, Robert Klitzman, Erik Parens, Josue Martinez, W. Nicholson Price, II and Wendy K. Chung

Genet Med 2013 16: 367-373; advance online publication, October 24, 2013; 10.1038/gim.2013.145

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Similar prevalence of expanded CGG repeat lengths in the fragile X mental retardation I gene among infertile women and among women with proven fertility: a prospective study

Christian De Geyter, Nadira M’Rabet, Julie De Geyter, Stephan Zürcher, Rebecca Moffat, Nemya Bösch, Hong Zhang and Karl Heinimann

Genet Med 2013 16: 374-378; advance online publication, October 10, 2013; 10.1038/gim.2013.146

Abstract | Full Text

“Is a cure in my sight?” Multi-stakeholder perspectives on phase I choroideremia gene transfer clinical trials OPEN

Shelly Benjaminy, Ian MacDonald and Tania Bubela

Genet Med 2013 16: 379-385; advance online publication, September 26, 2013; 10.1038/gim.2013.148

Abstract | Full Text

Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D

Yuji Okamoto, Meryem Tuba Goksungur, Davut Pehlivan, Christine R. Beck, Claudia Gonzaga-Jauregui, Donna M. Muzny, Mehmed M. Atik, Claudia M.B. Carvalho, Zeliha Matur, Serife Bayraktar, Philip M. Boone, Kaya Akyuz, Richard A. Gibbs, Esra Battaloglu, Yesim Parman and James R. Lupski

Genet Med 2013 16: 386-394; advance online publication, October 17, 2013; 10.1038/gim.2013.155

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Patient decisions for disclosure of secondary findings among the first 200 individuals undergoing clinical diagnostic exome sequencing OPEN

Layla Shahmirzadi, Elizabeth C. Chao, Erika Palmaer, Melissa C. Parra, Sha Tang and Kelly D. Farwell Gonzalez

Genet Med 2013 16: 395-399; advance online publication, October 10, 2013; 10.1038/gim.2013.153

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Phenotypic consequences in black South African Fanconi anemia patients homozygous for a founder mutation

Candice Feben, Jennifer Kromberg, Rosalind Wainwright, David Stones, Chris Sutton, Janet Poole, Tabitha Haw and Amanda Krause

Genet Med 2013 16: 400-406; advance online publication, October 17, 2013; 10.1038/gim.2013.159

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The integration of next-generation sequencing panels in the clinical cancer genetics practice: an institutional experience

Caitlin B. Mauer, Sara M. Pirzadeh-Miller, Linda D. Robinson and David M. Euhus

Genet Med 2013 16: 407-412; advance online publication, October 10, 2013; 10.1038/gim.2013.160

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Opportunities to improve recruitment into medical genetics residency programs: survey results of program directors and medical genetics residents

Michelle Cichon and Gerald L. Feldman

Genet Med 2013 16: 413-418; advance online publication, October 17, 2013; 10.1038/gim.2013.161

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Brief Report

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Maternal plasma DNA testing for aneuploidy in pregnancies achieved by assisted reproductive technologies

Geralyn Lambert-Messerlian, Edward M. Kloza, John Williams, III, Jaroslav Loucky, Barbara O’Brien, Louise Wilkins-Haug, Maurice J. Mahoney, Pierangela De Biasio, Antoni Borrell, Mathias Ehrich, Dirk van den Boom, Allan T. Bombard, Cosmin Deciu and Glenn E. Palomaki

Genet Med 2013 16: 419-422; advance online publication, October 3, 2013; 10.1038/gim.2013.149

Abstract | Full Text

Podcast

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Podcast

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