Genetics in Medicine contents: Volume 15, Issue 9

Circulation: Cardiovascular Genetics is the #1 journal dedicated to cardiovascular genetics, genomics, and systems biology. Join an esteemed roster of your peers-submit your manuscript for publication in Circulation: Cardiovascular Genetics today. Visit the journal's Information for Authors to learn about preferred article types and how to submit. TABLE OF CONTENTS Volume 15, Issue 9 (September 2013) In this issue Research Highlights Review Special Article Original Research Article Brief Report ACMG Practice Guidelines ACMG Policy Statement Letter to the Editor 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 Research Highlights Top In This Issue Genet Med 2013 15: 671; 10.1038/gim.2013.124 Full Text Editorial Genet Med 2013 15: 671-672; 10.1038/gim.2013.136 Full Text Review Top Hereditary ataxias: overview Suman Jayadev and Thomas D. Bird Genet Med 2013 15: 673-683; advance online publication, March 28, 2013; 10.1038/gim.2013.28 Abstract | Full Text Special Article Top Self-guided management of exome and whole-genome sequencing results: changing the results return model Joon-Ho Yu, Seema M. Jamal, Holly K. Tabor and Michael J. Bamshad Genet Med 2013 15: 684-690; advance online publication, April 25, 2013; 10.1038/gim.2013.35 Abstract | Full Text Original Research Articles Top Growth behavior of plexiform neurofibromas after surgery Rosa Nguyen, Chadi Ibrahim, Reinhard E. Friedrich, Manfred Westphal, Martin Schuhmann and Victor-Felix Mautner Genet Med 2013 15: 691-697; advance online publication, April 18, 2013; 10.1038/gim.2013.30 Abstract | Full Text The association of low socioeconomic status and the risk of having a child with Down syndrome: a report from the National Down Syndrome Project Jessica Ezzell Hunter, Emily Graves Allen, Mikyong Shin, Lora J.H. Bean, Adolfo Correa, Charlotte Druschel, Charlotte A. Hobbs, Leslie A. O’Leary, Paul A. Romitti, Marjorie H. Royle, Claudine P. Torfs, Sallie B. Freeman and Stephanie L. Sherman Genet Med 2013 15: 698-705; advance online publication, April 4, 2013; 10.1038/gim.2013.34 Abstract | Full Text Density matters: comparison of array platforms for detection of copy-number variation and copy-neutral abnormalities Heather Mason-Suares, Wayne Kim, Leslie Grimmett, Eli S. Williams, Vanessa L. Horner, Dawn Kunig, Ian S. Goldlust, Bai-Lin Wu, Yiping Shen, David T. Miller, Christa L. Martin and M. Katharine Rudd Genet Med 2013 15: 706-712; advance online publication, April 4, 2013; 10.1038/gim.2013.36 Abstract | Full Text Discussing the psychiatric manifestations of 22q11.2 deletion syndrome: an exploration of clinical practice among medical geneticists Emily Morris, Angela Inglis, Jan Friedman and Jehannine Austin Genet Med 2013 15: 713-720; advance online publication, April 11, 2013; 10.1038/gim.2013.31 Abstract | Full Text Description and pilot results from a novel method for evaluating return of incidental findings from next-generation sequencing technologies Katrina A.B. Goddard, Evelyn P. Whitlock, Jonathan S. Berg, Marc S. Williams, Elizabeth M. Webber, Jennifer A. Webster, Jennifer S. Lin, Kasmintan A. Schrader, Doug Campos-Outcalt, Kenneth Offit, Heather Spencer Feigelson and Celine Hollombe Genet Med 2013 15: 721-728; advance online publication, April 4, 2013; 10.1038/gim.2013.37 Abstract | Full Text Brief Report Top Positive cell-free fetal DNA testing for trisomy 13 reveals confined placental mosaicism April L. Hall, Holli M. Drendel, Jennifer L. Verbrugge, Angela M. Reese, Katherine L. Schumacher, Christopher B. Griffith, David D. Weaver, Mary P. Abernathy, Christian G. Litton and Gail H. Vance Genet Med 2013 15: 729-732; advance online publication, March 14, 2013; 10.1038/gim.2013.26 Abstract | Full Text ACMG Practice Guidelines Top ACMG clinical laboratory standards for next-generation sequencing Heidi L. Rehm, Sherri J. Bale, Pinar Bayrak-Toydemir, Jonathan S. Berg, Kerry K. Brown, Joshua L. Deignan, Michael J. Friez, Birgit H. Funke, Madhuri R. Hegde and Elaine Lyon ; for the Working Group of the American College of Medical Genetics and Genomics Laboratory Quality Assurance Committee Genet Med 2013 15: 733-747; advance online publication, July 25, 2013; 10.1038/gim.2013.92 Abstract | Full Text ACMG Policy Statement Top Points to consider for informed consent for genome/exome sequencing ACMG Board of Directors Genet Med 2013 15: 748-749; advance online publication, August 22, 2013; 10.1038/gim.2013.94 Full Text Letters to the Editor Top ACMG recommendations on incidental findings are flawed scientifically and ethically Neil A. Holtzman Genet Med 2013 15: 750-751; 10.1038/gim.2013.96 Full Text Paternalism and the ACMG recommendations on genomic incidental findings: patients seen but not heard Anne Townsend, Shelin Adam, Patricia H. Birch and Jan M. Friedman Genet Med 2013 15: 751-752; 10.1038/gim.2013.105 Full Text Response to Townsend et al. Bruce Korf Genet Med 2013 15: 752-753; 10.1038/gim.2013.106 Full Text Runs of homozygosity and parental relatedness Noah A. Rosenberg, Trevor J. Pemberton, Jun Z. Li and John W. Belmont Genet Med 2013 15: 753-754; 10.1038/gim.2013.108 Full Text Response to Rosenberg et al. Catherine W. Rehder, Karen L. David, Betsy Hirsch, Helga V. Toriello, Carolyn M. Wilson and Hutton M. Kearney Genet Med 2013 15: 754; 10.1038/gim.2013.107 Full Text Podcast Top Podcast Don't miss out! If you haven't had a chance to read the following NutDi articles access them today. - Insulin stimulation regulates AS160 and TBC1D1 phosphorylation sites in human skeletal muscle OPEN - The relationship between family and child weight status by household structure in South Korea: 2007-2010 OPEN - A simple scoring method using cardiometabolic risk measurements in pregnancy to determine 10-year risk of type 2 diabetes in women with gestational diabetes OPEN

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