Genetics in Medicine contents: Volume 15, Issue 4

TABLE OF CONTENTS Volume 15, Issue 4 (April 2013) In this issue Research Highlights Reviews Commentaries Original Research Articles Brief Reports ACMG Policy Statement Letters to the Editor Erratum Submit to Genetics in Medicine Author benefits at a glance include: -Quick and easy online submission- Fast editorial turnaround- Advance Online Publication- Open Access option- Inclusion in the leading abstracting and indexing services- High visibility across nature.com. Find out more & submit! Research Highlights Top In This Issue Genet Med 2013 15: 249; 10.1038/gim.2013.33 Full Text News Briefs Genet Med 2013 15: 249-250; 10.1038/gim.2013.38 Full Text Reviews Top Argininosuccinic aciduria: from a monogenic to a complex disorder Ayelet Erez Genet Med 2013 15: 251-257; advance online publication, January 10, 2013; 10.1038/gim.2012.166 Abstract | Full Text Implementing genomic medicine in the clinic: the future is here Open Teri A. Manolio, Rex L. Chisholm, Brad Ozenberger, Dan M. Roden, Marc S. Williams, Richard Wilson, David Bick, Erwin P. Bottinger, Murray H. Brilliant, Charis Eng, Kelly A. Frazer, Bruce Korf, David H. Ledbetter, James R. Lupski, Clay Marsh, David Mrazek, Michael F. Murray, Peter H. O’Donnell, Daniel J. Rader, Mary V. Relling, Alan R. Shuldiner, David Valle, Richard Weinshilboum, Eric D. Green and Geoffrey S. Ginsburg Genet Med 2013 15: 258-267; advance online publication, January 10, 2013; 10.1038/gim.2012.157 Abstract | Full Text Commentaries Top The arrival of genomic medicine to the clinic is only the beginning of the journey James P. Evans and Muin J. Khoury Genet Med 2013 15: 268-269; advance online publication, January 10, 2013; 10.1038/gim.2012.133 Full Text Leveraging the electronic health record to implement genomic medicine Iftikhar J. Kullo, Gail P. Jarvik, Teri A. Manolio, Marc S. Williams and Dan M. Roden Genet Med 2013 15: 270-271; advance online publication, September 27, 2012; 10.1038/gim.2012.131 Full Text Behavioral genetics and population health interventions for alcohol problems: at odds or oddly in agreement? Open John A. Cunningham, Jim McCambridge and Christian S. Hendershot Genet Med 2013 15: 272-273; advance online publication, September 20, 2012; 10.1038/gim.2012.127 Full Text Original Research Articles Top Autism genetic testing: a qualitative study of awareness, attitudes, and experiences among parents of children with autism spectrum disorders Lei-Shih Chen, Lei Xu, Tse-Yang Huang and Shweta U. Dhar Genet Med 2013 15: 274-281; advance online publication, January 3, 2013; 10.1038/gim.2012.145 Abstract | Full Text 1q21.1 Microduplication expression in adults Alessia Dolcetti, Candice K. Silversides, Christian R. Marshall, Anath C. Lionel, Dimitri J. Stavropoulos, Stephen W. Scherer and Anne S. Bassett Genet Med 2013 15: 282-289; advance online publication, September 27, 2012; 10.1038/gim.2012.129 Abstract | Full Text Fragile X–related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation study Yoshimi Inaba, Amy S. Herlihy, Charles E. Schwartz, Cindy Skinner, Quang M. Bui, Joanna Cobb, Elva Z. Shi, David Francis, Alison Arvaj, David J. Amor, Kate Pope, Tiffany Wotton, Jonathan Cohen, Jacqueline K. Hewitt, Randi J. Hagerman, Sylvia A. Metcalfe, John L. Hopper, Danuta Z. Loesch, Howard R. Slater and David E. Godler Genet Med 2013 15: 290-298; advance online publication, October 11, 2012; 10.1038/gim.2012.134 Abstract | Full Text Can a decision aid enable informed decisions in neonatal nursery recruitment for a fragile X newborn screening study? Donald B. Bailey, Jr, Carla Bann, Ellen Bishop, Sonia Guarda, Leah Barnum and Myra Roche Genet Med 2013 15: 299-306; advance online publication, October 25, 2012; 10.1038/gim.2012.135 Abstract | Full Text Brief Reports Top Lifting the lid on unborn lethal Mendelian phenotypes through exome sequencing Open Hanan E. Shamseldin, Abdulrahman Swaid and Fowzan S. Alkuraya Genet Med 2013 15: 307-309; advance online publication, October 4, 2012; 10.1038/gim.2012.130 Abstract | Full Text Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations Christine S. van der Werf, Yunia Sribudiani, Joke B.G.M. Verheij, Matthew Carroll, Edward O’Loughlin, Chien-Huan Chen, Alice S. Brooks, M. Kathryn Liszewski, John P. Atkinson and Robert M.W. Hofstra Genet Med 2013 15: 310-313; advance online publication, October 4, 2012; 10.1038/gim.2012.123 Abstract | Full Text ACMG Policy Statement Top Risk categorization for oversight of laboratory-developed tests for inherited conditions Kristin G. Monaghan, Judith Benkendorf, Athena M. Cherry, Susan J. Gross, C. Sue Richards, Vernon Reid Sutton and Michael S. Watson a joint working group of the Laboratory Quality Assurance and the Professional Practice and Guidelines Committees of the American College of Medical Genetics and Genomics Genet Med 2013 15: 314-315; advance online publication, January 24, 2013; 10.1038/gim.2012.178 Full Text Letters to the Editor Top Prenatal counseling and the detection of copy-number variants Peter A. Benn Genet Med 2013 15: 316-317; 10.1038/gim.2013.16 Full Text Response to Benn Jill A. Rosenfeld, Bradley P. Coe, Evan E. Eichler, Howard Cuckle and Lisa G. Shaffer Genet Med 2013 15: 317-318; 10.1038/gim.2013.20 Full Text Considering the cost of expanded carrier screening panels Katie Stoll and Robert Resta Genet Med 2013 15: 318-319; 10.1038/gim.2013.18 Full Text Response to Stoll and Resta Open Gabriel A. Lazarin, Imran S. Haque, Shivani Nazareth and Eric A. Evans Genet Med 2013 15: 319-320; 10.1038/gim.2013.19 Full Text Erratum Top ERRATUM: Technical report: ethical and policy issues in genetic testing and screening of children Genet Med 2013 15: 321; 10.1038/gim.2013.39 Full Text Podcast Top Podcast 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 other enquiries, please contact our customer feedback department. Nature Publishing Group | 75 Varick Street, 9th Floor | New York | NY 10013-1917 | USA Nature Publishing Group's worldwide offices: London - Paris - Munich - New Delhi - Tokyo - Melbourne San Diego - San Francisco - Washington - New York - Boston Macmillan Publishers Limited is a company incorporated in England and Wales under company number 785998 and whose registered office is located at Brunel Road, Houndmills, Basingstoke, Hampshire RG21 6XS. © 2013 Nature Publishing Group, a division of Macmillan Publishers Limited. All Rights Reserved.