Genetics in Medicine contents: Volume 14, Issue 9

TABLE OF CONTENTS Volume 14, Issue 9 (September 2012) In this issue Research Highlights Systematic Review Commentary Original Research Articles Brief Report Letters to the Editor ACMG College News Advertisement 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 Top In This Issue Genet Med 2012 14: 763; 10.1038/gim.2012.100 Full Text News Briefs Genet Med 2012 14: 763-764; 10.1038/gim.2012.101 Full Text Systematic Review Top Telegenetics: a systematic review of telemedicine in genetics services Jennifer S. Hilgart, Julie A. Hayward, Bernadette Coles and Rachel Iredale Genet Med 2012 14: 765-776; advance online publication, April 12, 2012; 10.1038/gim.2012.40 Abstract | Full Text Commentary Top Moving toward NextGenetic Counseling Myra I. Roche Genet Med 2012 14: 777-778; advance online publication, July 12, 2012; 10.1038/gim.2012.84 Full Text Original Research Articles Top Clinical observation of patients with Fabry disease after switching from agalsidase beta (Fabrazyme) to agalsidase alfa (Replagal) Kazuya Tsuboi and Hiroshi Yamamoto Genet Med 2012 14: 779-786; advance online publication, April 12, 2012; 10.1038/gim.2012.39 Abstract | Full Text Preferences for opt-in and opt-out enrollment and consent models in biobank research: a national survey of Veterans Administration patients David Kaufman, Juli Bollinger, Rachel Dvoskin and Joan Scott Genet Med 2012 14: 787-794; advance online publication, April 26, 2012; 10.1038/gim.2012.45 Abstract | Full Text Characterization and pathogenesis of anemia in glycogen storage disease type Ia and Ib David Q. Wang, Caroline T. Carreras, Laurie M. Fiske, Stephanie Austin, Danielle Boree, Priya S. Kishnani and David A. Weinstein Genet Med 2012 14: 795-799; advance online publication, June 7, 2012; 10.1038/gim.2012.41 Abstract | Full Text The emerging phenotype of long-term survivors with infantile Pompe disease Sean N. Prater, Suhrad G. Banugaria, Stephanie M. DeArmey, Eleanor G. Botha, Erin M. Stege, Laura E. Case, Harrison N. Jones, Chanika Phornphutkul, Raymond Y. Wang, Sarah P. Young and Priya S. Kishnani Genet Med 2012 14: 800-810; advance online publication, April 26, 2012; 10.1038/gim.2012.44 Abstract | Full Text Tetrasomy 15q26: a distinct syndrome or Shprintzen-Goldberg syndrome phenocopy? Brynn Levy, David Tegay, Peter Papenhausen, James Tepperberg, Odelia Nahum, Tammy Tsuchida, Beth A. Pletcher, Leena Ala-Kokko, Stuart Baker, Barbara Frederick, Kurt Hirschhorn, Peter Warburton and Alan Shanske Genet Med 2012 14: 811-818; advance online publication, May 31, 2012; 10.1038/gim.2012.54 Abstract | Full Text Brief Report Top Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome Jessica Mester and Charis Eng Genet Med 2012 14: 819-822; advance online publication, May 17, 2012; 10.1038/gim.2012.51 Abstract | Full Text Identification of a novel Cys146X mutation of SOD1 in familial amyotrophic lateral sclerosis by whole-exome sequencing Jinyu Wu, Enjian Shen, Dashuang Shi, ZhongSheng Sun and Tao Cai Genet Med 2012 14: 823-826; advance online publication, May 17, 2012; 10.1038/gim.2012.50 Abstract | Full Text Letters to the Editor Top Inconsistent reporting about dosing, dosing regimen, and immunomodulation therapy in Pompe disease AJJ Reuser Genet Med 2012 14: 827; advance online publication, August 9, 2012; 10.1038/gim.2012.80 Full Text Response to Reuser Andrea Amalfitano, Priya S. Kishnani and YT Chen Genet Med 2012 14: 827-828; advance online publication, August 9, 2012; 10.1038/gim.2012.81 Full Text ACMG College News Top ACMG College news Genet Med 2012 14: 829; 10.1038/gim.2012.117 PDF Podcast Top Podcast Advertisement 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     Please note that you need to be a subscriber or site-license holder to enjoy full-text access to Clinical Pharmacology & Therapeutics. In order to do so, please purchase a subscription. You have been sent this Table of Contents Alert because you have opted in to receive it. You can change or discontinue your e-mail alerts at any time, by modifying your preferences on your nature.com account at: www.nature.com/nams/svc/myaccount (You will need to log in to be recognised as a nature.com registrant). For further technical assistance, please contact our registration department. For print subscription enquiries, please contact our subscription department. For other enquiries, please contact our customer feedback department. 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