Genetics in Medicine contents: Volume 18, Issue 1

TABLE OF CONTENTS Volume 17, Issue 12 (December 2015) In this issue Research Highlights Review Commentary Original Research Article Brief Report Letter to the Editor Podcast Facebook Twitter Subscribe Recommend to your library RSS ACMG Advertisement Have you tried listening to the Genepod from Genetics in Medicine? Hear experts talk about the latest research in medical genetics and genomics - listen online or download for free! Click here to access Research Highlights Top In this Issue Genet Med 2015 17: 947; 10.1038/gim.2015.168 Full Text News Briefs Genet Med 2015 17: 947-948; 10.1038/gim.2015.182 Full Text Review Top Stakeholder engagement in policy development: challenges and opportunities for human genomics Amy A. Lemke and Julie N. Harris-Wai Genet Med 2015 17: 949-957; advance online publication, March 12, 2015; 10.1038/gim.2015.8 Abstract | Full Text Commentary Top Too much, too soon?: Commercial provision of noninvasive prenatal screening for subchromosomal abnormalities and beyond Megan Allyse and Subhashini Chandrasekharan Genet Med 2015 17: 958-961; advance online publication, March 19, 2015; 10.1038/gim.2015.23 Full Text Legislation in the genomic era: the Affordable Care Act and genetic testing for cancer risk assessment Farzana L. Walcott and Barbara K. Dunn Genet Med 2015 17: 962-964; advance online publication, March 5, 2015; 10.1038/gim.2015.18 Full Text Original Research Articles Top Ultra-orphan diseases: a quantitative analysis of the natural history of molybdenum cofactor deficiency Konstantin Mechler, William K. Mountford, Georg F. Hoffmann and Markus Ries Genet Med 2015 17: 965-970; advance online publication, March 12, 2015; 10.1038/gim.2015.12 Abstract | Full Text Lysosomal storage disease in the brain: mutations of the β-mannosidase gene identified in autosomal dominant nystagmus Ping Yu, Yun Cui, Wanshi Cai, Honghu Wu, Xiaoqiang Xiao, Qianzhi Shao, Liang Ma, Sen Guo, Nana Wu, Zi-Bing Jin, Yongjin Wang, Tao Cai, Zhong Sheng Sun and Jia Qu Genet Med 2015 17: 971-979; advance online publication, March 5, 2015; 10.1038/gim.2015.10 Abstract | Full Text The importance of an integrated analysis of clinical, molecular, and functional data for the genetic diagnosis of familial hypercholesterolemia Asier Benito-Vicente, Ana Catarina Alves, Aitor Etxebarria, Ana Medeiros Medeiros, Cesar Martin and Mafalda Bourbon Genet Med 2015 17: 980-988; advance online publication, March 5, 2015; 10.1038/gim.2015.14 Abstract | Full Text Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency Eugene F. Diekman, Sacha Ferdinandusse, Ludo van der Pol, Hans R. Waterham, Jos P. N. Ruiter, Lodewijk Ijlst, Ronald J. Wanders, Sander M. Houten, Frits A. Wijburg, A. Christiaan Blank, Folkert W. Asselbergs, Riekelt H. Houtkooper and Gepke Visser Genet Med 2015 17: 989-994; advance online publication, April 2, 2015; 10.1038/gim.2015.22 Abstract | Full Text A genome sequencing program for novel undiagnosed diseases OPEN Cinnamon S. Bloss, Ashley A. Scott-Van Zeeland, Sarah E. Topol, Burcu F. Darst, Debra L. Boeldt, Galina A. Erikson, Kelly J. Bethel, Robert L. Bjork, Jennifer R. Friedman, Nelson Hwynn, Bradley A. Patay, Paul J. Pockros, Erick R. Scott, Ronald A. Simon, Gary W. Williams, Nicholas J. Schork, Eric J. Topol and Ali Torkamani Genet Med 2015 17: 995-1001; advance online publication, March 19, 2015; 10.1038/gim.2015.21 Abstract | Full Text Brief Report Top Determining the prevalence of McArdle disease from gene frequency by analysis of next-generation sequencing data Mauricio De Castro, Jennifer Johnston and Leslie Biesecker Genet Med 2015 17: 1002-1006; advance online publication, March 5, 2015; 10.1038/gim.2015.9 Abstract | Full Text Frequency and spectrum of actionable pathogenic secondary findings in 196 Korean exomes Mi-Ae Jang, Sang-Heon Lee, Namshin Kim and Chang-Seok Ki Genet Med 2015 17: 1007-1011; advance online publication, April 9, 2015; 10.1038/gim.2015.26 Abstract | Full Text Letter to the Editor Top Interpreting sequence variants in a clinical context Stephen Cederbaum Genet Med 2015 17: 1012; advance online publication, November 5, 2015; 10.1038/gim.2015.150 Full Text Response to Cederbaum The Interpretation of Sequence Variants Workgroup Genet Med 2015 17: 1013-1014; advance online publication, November 12, 2015; 10.1038/gim.2015.151 Full Text Podcast Top Listen to the latest podcast here. Advertisement Submit your work to The Pharmacogenomics Journal Covering multiple areas of medicine including cancer, cardiovascular, clinical immunology, precision & personalised medicine, The Pharmacogenomics Journal could be the place for your research. Reach an audience of over 77,000 with an Impact Factor of 4.229*. *(2014 Journal Citation Reports (R) - Thomson Reuters, 2015) Find out more: http://bit.ly/1W1vu5H   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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