Genetics in Medicine contents: Volume 18, Issue 5

Advertisement Could it be time for your patients to try RAVICTI® (glycerol phenylbutyrate) Oral Liquid? Visit ravicti.com to see what makes it unique.  RAVICTI is a registered trademark of Horizon Therapeutics, Inc. © 2016 Horizon Therapeutics, Inc. All rights reserved.   TABLE OF CONTENTS Volume 18, Issue 5 (May 2016) In this issue Research Highlights Review Commentary Original Research Article Letter to the Editor Corrigendum Podcast Sign in for free ACMG member access Facebook Twitter Subscribe Recommend to your library RSS ACMG Advertisement Visit us in Barcelona at the ESHG Annual Meeting, May 21-23  Come and pick up free journal copies including European Journal of Human Genetics, Nature Genetics, Heredity and Genetics in Medicine, stress balls, pens and more in Barcelona. We will be at booth #736 - hope to see you there! Find out more   Advertisement Curating the Clinical Genome (22-24 June 2016)  The conference will be of interest to a wide group of medical genomics researchers, clinicians practising genomic medicine, companies developing solutions for clinical genomics, and researchers interested in genomic data sharing. Registration deadline: 25 May 2016   Research Highlights Top In This Issue Genet Med 2016 18: 419; 10.1038/gim.2016.52 Full Text News Briefs Genet Med 2016 18: 419-420; 10.1038/gim.2016.56 Full Text Review Top The genetic landscape of Alzheimer disease: clinical implications and perspectives OPEN Caroline Van Cauwenberghe, Christine Van Broeckhoven and Kristel Sleegers Genet Med 2016 18: 421-430; advance online publication, August 27, 2015; 10.1038/gim.2015.117 Abstract | Full Text LINE-1 in cancer: multifaceted functions and potential clinical implications Lu Xiao-Jie, Xue Hui-Ying, Xiaolong Qi, Xu Jiang and Ma Shi-Jie Genet Med 2016 18: 431-439; advance online publication, September 3, 2015; 10.1038/gim.2015.119 Abstract | Full Text Commentary Top What is the role of clinical genetics in the patient-centered medical home?: A commentary from the Medical Home Workgroup of the Heartland Regional Genetics and Newborn Screening Collaborative Gerald Bradley Schaefer, Ingrid A. Larson, JoAnn Bolick and Lori Williamson-Dean Genet Med 2016 18: 440-442; advance online publication, August 20, 2015; 10.1038/gim.2015.113 Full Text Original Research Article Top The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy Davut Pehlivan, Christine R. Beck, Yuji Okamoto, Tamar Harel, Zeynep H. C. Akdemir, Shalini N. Jhangiani, Marjorie A. Withers, Meryem Tuba Goksungur, Claudia M. B. Carvalho, Dirk Czesnik, Claudia Gonzaga-Jauregui, Wojciech Wiszniewski, Donna M. Muzny, Richard A. Gibbs, Bernd Rautenstrauss, Michael W. Sereda and James R. Lupski Genet Med 2016 18: 443-451; advance online publication, September 17, 2015; 10.1038/gim.2015.124 Abstract | Full Text Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants OPEN Simon A. Jones, Vassili Valayannopoulos, Eugene Schneider, Stephen Eckert, Maryam Banikazemi, Martin Bialer, Stephen Cederbaum, Alicia Chan, Anil Dhawan, Maja Di Rocco, Jennifer Domm, Gregory M. Enns, David Finegold, J. Jay Gargus, Ornella Guardamagna, Christian Hendriksz, Iman G. Mahmoud, Julian Raiman, Laila A. Selim, Chester B. Whitley, Osama Zaki and Anthony G. Quinn Genet Med 2016 18: 452-458; advance online publication, August 27, 2015; 10.1038/gim.2015.108 Abstract | Full Text Live births, natural losses, and elective terminations with Down syndrome in Massachusetts Gert de Graaf, Frank Buckley and Brian G. Skotko Genet Med 2016 18: 459-466; advance online publication, April 14, 2016; 10.1038/gim.2016.15 Abstract | Full Text A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing OPEN Jonathan S. Berg, Ann Katherine M. Foreman, Julianne M. O'Daniel, Jessica K. Booker, Lacey Boshe, Timothy Carey, Kristy R. Crooks, Brian C. Jensen, Eric T. Juengst, Kristy Lee, Daniel K. Nelson, Bradford C. Powell, Cynthia M. Powell, Myra I. Roche, Cecile Skrzynia, Natasha T. Strande, Karen E. Weck, Kirk C. Wilhelmsen and James P. Evans Genet Med 2016 18: 467-475; advance online publication, August 13, 2015; 10.1038/gim.2015.104 Abstract | Full Text Genetic causal attributions for weight status and weight loss during a behavioral weight gain prevention intervention Megan A. McVay, Dori M. Steinberg, Sandy Askew, Kimberly A. Kaphingst and Gary G. Bennett Genet Med 2016 18: 476-482; advance online publication, August 20, 2015; 10.1038/gim.2015.109 Abstract | Full Text The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care OPEN Brian T. Wilson, Zornitza Stark, Ruth E. Sutton, Sumita Danda, Alka V. Ekbote, Solaf M. Elsayed, Louise Gibson, Judith A. Goodship, Andrew P. Jackson, Wee Teik Keng, Mary D. King, Emma McCann, Toshino Motojima, Jennifer E. Murray, Taku Omata, Daniela Pilz, Kate Pope, Katsuo Sugita, Susan M. White and Ian J. Wilson Genet Med 2016 18: 483-493; advance online publication, July 23, 2015; 10.1038/gim.2015.110 Abstract | Full Text A germline chromothripsis event stably segregating in 11 individuals through three generations Birgitte Bertelsen, Lusine Nazaryan-Petersen, Wei Sun, Mana M. Mehrjouy, Gangcai Xie, Wei Chen, Lena E. Hjermind, Peter E. M. Taschner and Zeynep Tümer Genet Med 2016 18: 494-500; advance online publication, August 27, 2015; 10.1038/gim.2015.112 Abstract | Full Text Development and preliminary evaluation of an online educational video about whole-genome sequencing for research participants, patients, and the general public OPEN Saskia C. Sanderson, Sabrina A. Suckiel, Micol Zweig, Erwin P. Bottinger, Ethylin Wang Jabs and Lynne D. Richardson Genet Med 2016 18: 501-512; advance online publication, September 3, 2015; 10.1038/gim.2015.118 Abstract | Full Text Capture-based high-coverage NGS: a powerful tool to uncover a wide spectrum of mutation types Jing Wang, Hui Yu, Victor Wei Zhang, Xia Tian, Yanming Feng, Guoli Wang, Elizabeth Gorman, Hao Wang, Richard E. Lutz, Eric S. Schmitt, Sandra Peacock and Lee-Jun Wong Genet Med 2016 18: 513-521; advance online publication, September 24, 2015; 10.1038/gim.2015.121 Abstract | Full Text Expanded genetic screening panel for the Ashkenazi Jewish population Brett Baskovich, Susan Hiraki, Kinnari Upadhyay, Philip Meyer, Shai Carmi, Nir Barzilai, Ariel Darvasi, Laurie Ozelius, Inga Peter, Judy H. Cho, Gil Atzmon, Lorraine Clark, Jin Yu, Todd Lencz, Itsik Pe’er, Harry Ostrer and Carole Oddoux Genet Med 2016 18: 522-528; advance online publication, September 3, 2015; 10.1038/gim.2015.123 Abstract | Full Text Letter to the Editor Top Ashkenazi carrier screening for reproductive planning: is this what we planned for? Joël Zlotogora and Vardiella Meiner Genet Med 2016 18: 529; advance online publication, December 10, 2015; 10.1038/gim.2015.169 Full Text Response to Zlotogora and Meiner Brett Baskovich, Susan Hiraki, Carole Oddoux, Harry Ostrer and Kinnari Upadhyay Genet Med 2016 18: 530; advance online publication, December 10, 2015; 10.1038/gim.2015.170 Full Text Corrigendum Top CORRIGENDUM: Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing Genet Med 2016 18: 531-532; 10.1038/gim.2016.21 Full Text Podcast Top Podcast FREE 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). 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