Genetics in Medicine contents: Volume 15, Issue 8

TABLE OF CONTENTS Volume 15, Issue 8 (August 2013) In this issue Research Highlights Review EGAPP Review EGAPP Recommendation Statement Original Research Article Meeting Report ACMG Practice Guidelines Letter to the Editor Erratum Podcast Submit to Genetics in Medicine. Impact Factor: 5.560* 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!  *2012 Journal Citation Reports® Science Edition (Thomson Reuters, 2013) Research Highlights Top In This Issue Genet Med 2013 15: 589-590; 10.1038/gim.2013.103 Full Text News Briefs Genet Med 2013 15: 589-590; 10.1038/gim.2013.116 Full Text Review Top Newborn screening 50 years later: access issues faced by adults with PKU Open Susan A. Berry, Christine Brown, Mitzie Grant, Carol L. Greene, Elaina Jurecki, Jean Koch, Kathryn Moseley, Ruth Suter, Sandra C. van Calcar, Judy Wiles and Stephen Cederbaum Genet Med 2013 15: 591-599; advance online publication, March 7, 2013; 10.1038/gim.2013.10 Abstract | Full Text EGAPP Review Top Use of genomic panels to determine risk of developing type 2 diabetes in the general population: a targeted evidence-based review Open Glenn E. Palomaki, Stephanie Melillo, Michael Marrone and Michael P. Douglas Genet Med 2013 15: 600-611; advance online publication, March 14, 2013; 10.1038/gim.2013.8 Abstract | Full Text EGAPP Recommendation Statement Top Recommendations from the EGAPP Working Group: does genomic profiling to assess type 2 diabetes risk improve health outcomes? Open Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group*:  Genet Med 2013 15: 612-617; advance online publication, March 14, 2013; 10.1038/gim.2013.9 Abstract | Full Text Original Research Articles Top Morbidity and mortality in type B Niemann–Pick disease Margaret M. McGovern, Natalie Lippa, Emilia Bagiella, Edward H. Schuchman, Robert J. Desnick and Melissa P. Wasserstein Genet Med 2013 15: 618-623; advance online publication, February 14, 2013; 10.1038/gim.2013.4 Abstract | Full Text Managing incidental genomic findings: legal obligations of clinicians Ellen Wright Clayton, Susanne Haga, Patricia Kuszler, Emily Bane, Krysta Shutske and Wylie Burke Genet Med 2013 15: 624-629; advance online publication, February 28, 2013; 10.1038/gim.2013.7 Abstract | Full Text Utilization of epidermal growth factor receptor (EGFR) testing in the United States: a case study of T3 translational research Julie A. Lynch, Muin J. Khoury, Ann Borzecki, Jerry Cromwell, Laura L. Hayman, Pat Reid Ponte, Glenn A. Miller and Christopher S. Lathan Genet Med 2013 15: 630-638; advance online publication, February 28, 2013; 10.1038/gim.2013.5 Abstract | Full Text High apolipoprotein E4 allele frequency in FXTAS patients Francisca Silva, Laia Rodriguez-Revenga, Irene Madrigal, Maria Isabel Alvarez-Mora, Rafael Oliva and Montserrat Milà Genet Med 2013 15: 639-642; advance online publication, March 14, 2013; 10.1038/gim.2013.12 Abstract | Full Text “It was the missing piece”: adolescent experiences of predictive genetic testing for adult-onset conditions Cara Mand, Lynn Gillam, Rony E. Duncan and Martin B. Delatycki Genet Med 2013 15: 643-649; advance online publication, February 28, 2013; 10.1038/gim.2013.15 Abstract | Full Text A prospective study of brachytelephalangic chondrodysplasia punctata: identification of arylsulfatase E mutations, functional analysis of novel missense alleles, and determination of potential phenocopies Claudia Matos-Miranda, Graeme Nimmo, Bradley Williams, Carolyn Tysoe, Martina Owens, Sherri Bale and Nancy Braverman Genet Med 2013 15: 650-657; advance online publication, March 7, 2013; 10.1038/gim.2013.13 Abstract | Full Text Meeting Report Top What does it mean to be genomically literate?: National Human Genome Research Institute Meeting Report Belen Hurle, Toby Citrin, Jean F. Jenkins, Kimberly A. Kaphingst, Neil Lamb, Jo Ellen Roseman and Vence L. Bonham Genet Med 2013 15: 658-663; advance online publication, February 28, 2013; 10.1038/gim.2013.14 Abstract | Full Text ACMG Practice Guidelines Top Incidental findings in clinical genomics: a clarification American College of Medical Genetics and Genomics Genet Med 2013 15: 664-666; advance online publication, July 4, 2013; 10.1038/gim.2013.82 Full Text Letter to the Editor Top Incorporating genomic data into multivariate risk models for lung cancer Robert P. Young and Raewyn J. Hopkins Genet Med 2013 15: 667-668; 10.1038/gim.2013.89 Full Text Erratum Top ERRATUM: Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions Genet Med 2013 15: 669; 10.1038/gim.2013.52 Full Text Podcast Top Podcast Please note that you need to be a subscriber or site-license holder to enjoy full-text access to Clinical Pharmacology & Therapeutics. 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