Genetics in Medicine contents: Volume 16, Issue 12

TABLE OF CONTENTS Volume 16, Issue 12 (December 2014) In this issue Research Highlights Commentary Invited Commentary Original Research Articles Brief Reports ACMG Standards and Guidelines Genetic Legacy Letter to the Editor Reviewers Erratum Podcast Research Highlights Top In This Issue Genet Med 2014 16: 865; 10.1038/gim.2014.170 Full Text News Briefs Genet Med 2014 16: 865-866; 10.1038/gim.2014.171 Full Text Commentary Top Vascular Ehlers–Danlos syndrome, pixels, and high-definition clinical genomics Michael F. Murray Genet Med 2014 16: 867-868; advance online publication, August 7, 2014; 10.1038/gim.2014.88 Full Text Invited Commentary Top Utility before business Steven M. Teutsch, Jonathan E. Fielding, Muin J. Khoury and James P. Evans Genet Med 2014 16: 869-870; advance online publication, July 10, 2014; 10.1038/gim.2014.71 Full Text Commentary Top Translational research is a key to nongeneticist physicians’ genomics education W. Gregory Feero, Teri A. Manolio and Muin J. Khoury Genet Med 2014 16: 871-873; advance online publication, May 29, 2014; 10.1038/gim.2014.67 Full Text Original Research Articles Top Pregnancy-related deaths and complications in women with vascular Ehlers–Danlos syndrome Mitzi L. Murray, Melanie Pepin, Suzanne Peterson and Peter H. Byers Genet Med 2014 16: 874-880; advance online publication, June 12, 2014; 10.1038/gim.2014.53 Abstract | Full Text Survival is affected by mutation type and molecular mechanism in vascular Ehlers–Danlos syndrome (EDS type IV) Melanie G. Pepin, Ulrike Schwarze, Kenneth M. Rice, Mingdong Liu, Dru Leistritz, and Peter H. Byers Genet Med 2014 16: 881-888; advance online publication, June 12, 2014; 10.1038/gim.2014.72 Abstract | Full Text Postanalytical tools improve performance of newborn screening by tandem mass spectrometry OPEN Patricia L. Hall, Gregg Marquardt, David M.S. McHugh, Robert J. Currier, Hao Tang, Stephanie D. Stoway and Piero Rinaldo Genet Med 2014 16: 889-895; advance online publication, May 29, 2014; 10.1038/gim.2014.62 Abstract | Full Text Comparison of risk management strategies between women testing positive for a BRCA variant of unknown significance and women with known BRCA deleterious mutations Christine Garcia, Liisa Lyon, Ramey D. Littell and C. Bethan Powell Genet Med 2014 16: 896-902; advance online publication, May 22, 2014; 10.1038/gim.2014.48 Abstract | Full Text Comprehensive and quantitative multilocus methylation analysis reveals the susceptibility of specific imprinted differentially methylated regions to aberrant methylation in Beckwith–Wiedemann syndrome with epimutations OPEN Toshiyuki Maeda, Ken Higashimoto, Kosuke Jozaki, Hitomi Yatsuki, Kazuhiko Nakabayashi, Yoshio Makita, Hidefumi Tonoki, Nobuhiko Okamoto, Fumio Takada, Hirofumi Ohashi, Makoto Migita, Rika Kosaki, Keiko Matsubara, Tsutomu Ogata, Muneaki Matsuo, Yuhei Hamasaki, Yasufumi Ohtsuka, Kenichi Nishioka, Keiichiro Joh, Tsunehiro Mukai, Kenichiro Hata and Hidenobu Soejima Genet Med 2014 16: 903-912; advance online publication, May 8, 2014; 10.1038/gim.2014.46 Abstract | Full Text Multifactorial beliefs about the role of genetics and behavior in common health conditions: prevalence and associations with participant characteristics and engagement in health behaviors Erika A. Waters, Jaclyn Muff and Jada G. Hamilton Genet Med 2014 16: 913-921; advance online publication, May 15, 2014; 10.1038/gim.2014.49 Abstract | Full Text The usefulness of whole-exome sequencing in routine clinical practice Alejandro Iglesias, Kwame Anyane-Yeboa, Julia Wynn, Ashley Wilson, Megan Truitt Cho, Edwin Guzman, Rebecca Sisson, Claire Egan and Wendy K. Chung Genet Med 2014 16: 922-931; advance online publication, June 5, 2014; 10.1038/gim.2014.58 Abstract | Full Text Public preferences for the return of research results in genetic research: a conjoint analysis Juli Murphy Bollinger, John F.P. Bridges, Ateesha Mohamed and David Kaufman Genet Med 2014 16: 932-939; advance online publication, May 22, 2014; 10.1038/gim.2014.50 Abstract | Full Text Ethnic effect on FMR1 carrier rate and AGG repeat interruptions among Ashkenazi women Karin Weiss, Avi Orr-Urtreger, Idit Kaplan Ber, Tova Naiman, Ruth Shomrat, Eyal Bardugu, Yuval Yaron and Shay Ben-Shachar Genet Med 2014 16: 940-944; advance online publication, May 29, 2014; 10.1038/gim.2014.64 Abstract | Full Text Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations OPEN Barbara Vona, Tobias Müller, Indrajit Nanda, Cordula Neuner, Michaela A. H. Hofrichter, Jörg Schröder, Oliver Bartsch, Anne Läßig, Annerose Keilmann, Sebastian Schraven, Fabian Kraus, Wafaa Shehata-Dieler and Thomas Haaf Genet Med 2014 16: 945-953; advance online publication, May 29, 2014; 10.1038/gim.2014.65 Abstract | Full Text The business of genomic testing: a survey of early adopters OPEN James M. Crawford, Lynn Bry, John Pfeifer, Samuel K. Caughron, Stephen Black-Schaffer, Jeffrey A. Kant and Jill H. Kaufman Genet Med 2014 16: 954-961; advance online publication, July 10, 2014; 10.1038/gim.2014.60 Abstract | Full Text Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations OPEN Helen R. Griffin, Angela Pyle, Emma L. Blakely, Charlotte L. Alston, Jennifer Duff, Gavin Hudson, Rita Horvath, Ian J. Wilson, Mauro Santibanez-Koref, Robert W. Taylor and Patrick F. Chinnery Genet Med 2014 16: 962-971; advance online publication, June 5, 2014; 10.1038/gim.2014.66 Abstract | Full Text Brief Report Top Noninvasive prenatal testing for autosomal recessive conditions by maternal plasma sequencing in a case of congenital deafness Meng Meng, Xuchao Li, Huijuan Ge, Fang Chen, Mingyu Han, Yanyan Zhang, Dongyang Kang, Weiwei Xie, Zhiying Gao, Xiaoyu Pan, Pu Dai, Fanglu Chi, Shengpei Chen, Ping Liu, Chunlei Zhang, Jianjun Cao, Hui Jiang, Xun Xu, Wei Wang and Tao Duan Genet Med 2014 16: 972-976; advance online publication, May 15, 2014; 10.1038/gim.2014.51 Abstract | Full Text How do research participants perceive “uncertainty” in genome sequencing? Barbara B. Biesecker, William Klein, Katie L. Lewis, Tyler C. Fisher, Martha Frances Wright, Leslie G. Biesecker and Paul K. Han Genet Med 2014 16: 977-980; advance online publication, May 29, 2014; 10.1038/gim.2014.57 Abstract | Full Text ACMG Standards and Guidelines Top American College of Medical Genetics and Genomics Standards and Guidelines for Clinical Genetics Laboratories, 2014 edition: technical standards and guidelines for Huntington disease Lora Bean and Pinar Bayrak-Toydemir ; on behalf of the ACMG Laboratory Quality Assurance Committee Genet Med 2014 16: e2; advance online publication, October 30, 2014; 10.1038/gim.2014.146 Abstract | Full Text Genetic Legacy Top Michael Kaback: people and places Michael M. Kaback Genet Med 2014 16: 981-983; advance online publication, May 1, 2014; 10.1038/gim.2014.44 Full Text Letter to the Editor Top Genomics education for Veterans Affairs nurses Kendra L. Schaa, Gwen Anderson, Anna C. Alt-White, Christine E. Kasper and Andrea M. Boyd Genet Med 2014 16: 984-985; 10.1038/gim.2014.142 Full Text Reviewers Top Reviewer Acknowledgment 2014 Genet Med 2014 16: 986-987; 10.1038/gim.2014.152 Full Text Erratum Top Erratum: Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer Genet Med 2014 16: 988-989; 10.1038/gim.2014.126 Full Text Podcast Top Listen to the latest podcast here. 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