Genetics in Medicine contents: Volume 16, Issue 10

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Medical Genetics Laboratories - 40+ years of experience in genetics testing and reliability makes our lab the perfect choice. With over 2,000 tests on our menu, we build on our institution's strengths in research and discovery by offering quality genetic testing services relevant to 21st century medicine.  www.bcmgeneticlabs.org - 1-800-411-gene (4363) TABLE OF CONTENTS Volume 16, Issue 10 (October 2014) In this issue Research Highlights Review Commentary Original Research Articles Brief Reports Letters to the Editor Podcast 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 2014 16: 725; 10.1038/gim.2014.130 Full Text News Briefs Genet Med 2014 16: 725-726; 10.1038/gim.2014.135 Full Text Review Top Social and behavioral research in genomic sequencing: approaches from the Clinical Sequencing Exploratory Research Consortium Outcomes and Measures Working Group Stacy W. Gray, Yolanda Martins, Lindsay Z. Feuerman, Barbara A. Bernhardt, Barbara B. Biesecker, Kurt D. Christensen, Steven Joffe, Christine Rini, David Veenstra and Amy L. McGuire and members of the CSER Consortium Outcomes and Measures Working Group Genet Med 2014 16: 727-735; advance online publication, March 13, 2014; 10.1038/gim.2014.26 Abstract | Full Text Commentary Top The shifting model in clinical diagnostics: how next-generation sequencing and families are altering the way rare diseases are discovered, studied, and treated Matthew Might and Matt Wilsey Genet Med 2014 16: 736-737; advance online publication, March 20, 2014; 10.1038/gim.2014.23 Full Text Underutilization of specimens in biobanks: an ethical as well as a practical concern? R. Jean Cadigan, Eric Juengst, Arlene Davis and Gail Henderson Genet Med 2014 16: 738-740; advance online publication, April 24, 2014; 10.1038/gim.2014.38 Full Text Original Research Articles Top The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience Lauren Lawrence, Murat Sincan, Thomas Markello, David R. Adams, Fred Gill, Rena Godfrey, Gretchen Golas, Catherine Groden, Dennis Landis, Michele Nehrebecky, Grace Park, Ariane Soldatos, Cynthia Tifft, Camilo Toro, Colleen Wahl, Lynne Wolfe, William A. Gahl and Cornelius F. Boerkoel Genet Med 2014 16: 741-750; advance online publication, May 1, 2014; 10.1038/gim.2014.29 Abstract | Full Text Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway Gregory M. Enns, Vandana Shashi, Matthew Bainbridge, Michael J. Gambello, Farah R. Zahir, Thomas Bast, Rebecca Crimian, Kelly Schoch, Julia Platt, Rachel Cox, Jonathan A. Bernstein, Mena Scavina, Rhonda S. Walter, Audrey Bibb, Melanie Jones, Madhuri Hegde, Brett H. Graham, Anna C. Need, Angelica Oviedo, Christian P. Schaaf, Sean Boyle, Atul J. Butte, Rong Chen, Michael J. Clark, Rajini Haraksingh, Tina M. Cowan, Ping He, Sylvie Langlois, Huda Y. Zoghbi, Michael Snyder, Richard A. Gibbs, Hudson H. Freeze and David B. Goldstein , FORGE Canada Consortium Genet Med 2014 16: 751-758; advance online publication, March 20, 2014; 10.1038/gim.2014.22 Abstract | Full Text The natural history of MPS I: global perspectives from the MPS I Registry OPEN Michael Beck, Pamela Arn, Roberto Giugliani, Joseph Muenzer, Torayuki Okuyama, John Taylor and Shari Fallet Genet Med 2014 16: 759-765; advance online publication, March 27, 2014; 10.1038/gim.2014.25 Abstract | Full Text Clinical course of patients with Fabry disease who were switched from agalsidase-β to agalsidase-α OPEN Kazuya Tsuboi and Hiroshi Yamamoto Genet Med 2014 16: 766-772; advance online publication, March 20, 2014; 10.1038/gim.2014.28 Abstract | Full Text Comparing universal Lynch syndrome tumor-screening programs to evaluate associations between implementation strategies and patient follow-through Deborah Cragun, Rita D. DeBate, Susan T. Vadaparampil, Julie Baldwin, Heather Hampel and Tuya Pal Genet Med 2014 16: 773-782; advance online publication, March 20, 2014; 10.1038/gim.2014.31 Abstract | Full Text Brief Reports Top Deep sequencing with intronic capture enables identification of an APC exon 10 inversion in a patient with polyposis Brian H. Shirts, Stephen J. Salipante, Silvia Casadei, Shawnia Ryan, Judith Martin, Angela Jacobson, Tatyana Vlaskin, Karen Koehler, Robert J. Livingston, Mary-Claire King, Tom Walsh and Colin C. Pritchard Genet Med 2014 16: 783-786; advance online publication, March 27, 2014; 10.1038/gim.2014.30 Abstract | Full Text A germline missense mutation in COQ6 is associated with susceptibility to familial schwannomatosis OPEN Keqiang Zhang, Jia-Wei Lin, Jinhui Wang, Xiwei Wu, Hanlin Gao, Yi-Chen Hsieh, Peter Hwu, Yun-Ru Liu, Leila Su, Hung-Yi Chiou, Daidong Wang, Yate-Ching Yuan, Jacqueline Whang-Peng, Wen-Ta Chiu and Yun Yen Genet Med 2014 16: 787-792; advance online publication, April 24, 2014; 10.1038/gim.2014.39 Abstract | Full Text Letters to the Editor Top Interpreting noninvasive prenatal paternity tests Jiří Drábek and Giulia Cereda Genet Med 2014 16: 793-794; 10.1038/gim.2014.100 Full Text Response to Drábek and Cereda Allison Ryan, Zachary Demko, Styrmir Sigurjonsson and Matthew Rabinowitz Genet Med 2014 16: 794; 10.1038/gim.2014.99 Full Text Genetic counseling for women referred for advanced maternal age: a telegenetic approach OPEN Francesca Gualandi, Stefania Bigoni, Loredana Melchiorri, Barbara Buldrini, Alessandra Balboni, Marcella Neri, Annarita Armaroli, Giulia Parmeggiani, Eleonora Italyankina, Antonio Mauro, Anna Ravani, Sergio Fini, Stefano Caracciolo and Alessandra Ferlini Genet Med 2014 16: 795; 10.1038/gim.2014.103 Full Text Podcast Top Beginning in October, GENEpod will broadcast once a month in a new format, featuring interviews with authors and expert commentators, as well as research highlights from the journal that will be of interest and import to our readers. 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