Genetics in Medicine contents: Volume 15, Issue 1

TABLE OF CONTENTS Volume 15, Issue 1 (January 2013) In this issue Research Highlights Systematic Review Special Article Original Research Articles Brief Report In Memoriam Erratum Corrigendum 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 Research Highlights Top Incidental copy-number variants identified by routine genome testing in a clinical population Genet Med 2013 15: 1; 10.1038/gim.2012.170 Full Text News Briefs Genet Med 2013 15: 1-2; 10.1038/gim.2012.177 Full Text Systematic Review Top A systematic analysis of small supernumerary marker chromosomes using array CGH exposes unexpected complexity Kavita S. Reddy, Swaroop Aradhya, Jeanne Meck, George Tiller, Sridevi Abboy and Harold Bass Genet Med 2013 15: 3-13; advance online publication, August 30, 2012; 10.1038/gim.2012.78 Abstract | Full Text Special Article Top Improving the efficiency and relevance of evidence-based recommendations in the era of whole-genome sequencing: an EGAPP methods update David L. Veenstra, Margaret Piper, James E. Haddow, Stephen G. Pauker, Roger Klein, Carolyn Sue Richards, Sean R. Tunis, Benjamin Djulbegovic, Michael Marrone, Jennifer S. Lin, Alfred O. Berg and Ned Calonge ;on behalf of the EGAPP Working Group Genet Med 2013 15: 14-24; advance online publication, September 6, 2012; 10.1038/gim.2012.106 Abstract | Full Text Original Research Articles Top Identification of constitutional MLH1 epimutations and promoter variants in colorectal cancer patients from the Colon Cancer Family Registry Open Robyn L. Ward, Timothy Dobbins, Noralane M. Lindor, Robert W. Rapkins and Megan P. Hitchins Genet Med 2013 15: 25-35; advance online publication, August 9, 2012; 10.1038/gim.2012.91 Abstract | Full Text An informatics approach to analyzing the incidentalome Jonathan S. Berg, Michael Adams, Nassib Nassar, Chris Bizon, Kristy Lee, Charles P. Schmitt, Kirk C. Wilhelmsen and James P. Evans Genet Med 2013 15: 36-44; advance online publication, September 20, 2012; 10.1038/gim.2012.112 Abstract | Full Text Incidental copy-number variants identified by routine genome testing in a clinical population Philip M. Boone, Zachry T. Soens, Ian M. Campbell, Pawel Stankiewicz, Sau Wai Cheung, Ankita Patel, Arthur L. Beaudet, Sharon E. Plon, Chad A. Shaw, Amy L. McGuire and James R. Lupski Genet Med 2013 15: 45-54; advance online publication, August 9, 2012; 10.1038/gim.2012.95 Abstract | Full Text Homozygosity for aquaporin 7 G264V in three unrelated children with hyperglyceroluria and a mild platelet secretion defect Christophe Goubau, Jaak Jaeken, Elena N Levtchenko, Chantal Thys, Michela Di Michele, Geert A Martens, Erik Gerlo, Rita De Vos, Gunnar M Buyse, Nathalie Goemans, Chris Van Geet and Kathleen Freson Genet Med 2013 15: 55-63; advance online publication, August 16, 2012; 10.1038/gim.2012.90 Abstract | Full Text Survival among people with Down syndrome: a nationwide population-based study in Denmark Jin Liang Zhu, Henrik Hasle, Adolfo Correa, Diana Schendel, J.M. Friedman, Jørn Olsen and Sonja A. Rasmussen Genet Med 2013 15: 64-69; advance online publication, August 9, 2012; 10.1038/gim.2012.93 Abstract | Full Text Regions of homozygosity identified by SNP microarray analysis aid in the diagnosis of autosomal recessive disease and incidentally detect parental blood relationships Kristen Lipscomb Sund, Sarah L. Zimmerman, Cameron Thomas, Anna L. Mitchell, Carlos E. Prada, Lauren Grote, Liming Bao, Lisa J. Martin and Teresa A. Smolarek Genet Med 2013 15: 70-78; advance online publication, August 2, 2012; 10.1038/gim.2012.94 Abstract | Full Text Clinical and radiological features in young individuals with nevoid basal cell carcinoma syndrome Virginia E. Kimonis, Kathryn E. Singh, Rocksheng Zhong, Behram Pastakia, John J. DiGiovanna and Sherri J. Bale Genet Med 2013 15: 79-83; advance online publication, August 23, 2012; 10.1038/gim.2012.96 Abstract | Full Text Brief Report Top Stakeholder perspectives on decision-analytic modeling frameworks to assess genetic services policy Gregory F. Guzauskas, Louis P. Garrison, Jacquie Stock, Sylvia Au, Debra Lochner Doyle and David L. Veenstra Genet Med 2013 15: 84-87; advance online publication, July 26, 2012; 10.1038/gim.2012.92 Abstract | Full Text In Memoriam Top Louis J. “Skip” Elsas II, MD, FACMG R. Rodney Howell Genet Med 2013 15: 88; 10.1038/gim.2012.148 Full Text Erratum Top ERRATUM: A comprehensive survey of cancer risks in extended families Genet Med 2013 15: 89-90; 10.1038/gim.2012.30 Full Text Corrigendum Top CORRIGENDUM: Stakeholder assessment of the evidence for cancer genomic tests: insights from three case studies Genet Med 2013 15: 91; 10.1038/gim.2012.99 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. 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