Genetics in Medicine contents: Volume 18, Issue 1

TABLE OF CONTENTS Volume 18, Issue 1 (January 2016) In this issue Research Highlights Review Article Original Research Article Brief Report Letter to the Editor Reviewers Addenda Corrigenda Erratum Podcast Facebook Twitter Subscribe Recommend to your library RSS ACMG Advertisement New Web Focus — Children and Genetic Testing The nature of genetic information, with its inherent implications and inherent uncertainty about future health, poses specific and serious challenges to its application in children. When should children be notified of their genetic status? How much consideration should be given to the desires of parents, and how should clinicians navigate the complex issue of potentially "foreclosing" future decision-making by children?  Click here to take a look at this special curated collection of articles from Genetics in Medicine   Research Highlights Top In this Issue Genet Med 2016 18: 1; 10.1038/gim.2015.198 Full Text News Briefs Genet Med 2016 18: 1-2; 10.1038/gim.2015.202 Full Text Review Article Top Brugada syndrome: clinical and genetic findings Georgia Sarquella-Brugada, Oscar Campuzano, Elena Arbelo, Josep Brugada and Ramon Brugada Genet Med 2016 18: 3-12; advance online publication, April 23, 2015; 10.1038/gim.2015.35 Abstract | Full Text PMS2 monoallelic mutation carriers: the known unknown McKinsey L. Goodenberger, Brittany C. Thomas, Douglas Riegert-Johnson, C. Richard Boland, Sharon E. Plon, Mark Clendenning, Aung Ko Win, Leigha Senter, Steven M. Lipkin, Zsofia K. Stadler, Finlay A. Macrae, Henry T. Lynch, Jeffrey N. Weitzel, Albert de la Chapelle, Sapna Syngal, Patrick Lynch, Susan Parry, Mark A. Jenkins, Steven Gallinger, Spring Holter, Melyssa Aronson, Polly A. Newcomb, Terrilea Burnett, Loïc Le Marchand, Pavel Pichurin, Heather Hampel, Jonathan P. Terdiman, Karen H. Lu, Stephen Thibodeau and Noralane M. Lindor Genet Med 2016 18: 13-19; advance online publication, April 9, 2015; 10.1038/gim.2015.27 Abstract | Full Text Original Research Article Top The challenge of comprehensive and consistent sequence variant interpretation between clinical laboratories Melanie G. Pepin, Mitzi L. Murray, Samuel Bailey, Dru Leistritz-Kessler, Ulrike Schwarze and Peter H. Byers Genet Med 2016 18: 20-24; advance online publication, April 2, 2015; 10.1038/gim.2015.31 Abstract | Full Text Patient feedback and early outcome data with a novel tiered-binned model for multiplex breast cancer susceptibility testing Angela R. Bradbury, Linda J. Patrick-Miller, Brian L. Egleston, Laura DiGiovanni, Jamie Brower, Diana Harris, Evelyn M. Stevens, Kara N. Maxwell, Abha Kulkarni, Tyler Chavez, Amanda Brandt, Jessica M. Long, Jacquelyn Powers, Jill E. Stopfer, Katherine L. Nathanson and Susan M. Domchek Genet Med 2016 18: 25-33; advance online publication, April 2, 2015; 10.1038/gim.2015.19 Abstract | Full Text Novel first-dose adverse drug reactions during a phase I trial of olipudase alfa (recombinant human acid sphingomyelinase) in adults with Niemann–Pick disease type B (acid sphingomyelinase deficiency) OPEN Margaret M. McGovern, Melissa P. Wasserstein, Brian Kirmse, W. Lane Duvall, Thomas Schiano, Beth L. Thurberg, Susan Richards and Gerald F. Cox Genet Med 2016 18: 34-40; advance online publication, April 2, 2015; 10.1038/gim.2015.24 Abstract | Full Text High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets Christopher A. Wassif, Joanna L. Cross, James Iben, Luis Sanchez-Pulido, Antony Cougnoux, Frances M. Platt, Daniel S. Ory, Chris P. Ponting, Joan E. Bailey-Wilson, Leslie G. Biesecker and Forbes D. Porter Genet Med 2016 18: 41-48; advance online publication, March 12, 2015; 10.1038/gim.2015.25 Abstract | Full Text Treacher Collins syndrome: a clinical and molecular study based on a large series of patients Marie Vincent, David Geneviève, Agnès Ostertag, Sandrine Marlin, Didier Lacombe, Dominique Martin-Coignard, Christine Coubes, Albert David, Stanislas Lyonnet, Catheline Vilain, Anne Dieux-Coeslier, Sylvie Manouvrier, Bertrand Isidor, Marie-Line Jacquemont, Sophie Julia, Valérie Layet, Sophie Naudion, Sylvie Odent, Laurent Pasquier, Sybille Pelras, Nicole Philip, Geneviève Pierquin, Fabienne Prieur, Nisrine Aboussair, Tania Attie-Bitach, Geneviève Baujat, Patricia Blanchet, Catherine Blanchet, Hélène Dollfus, Bérénice Doray, Elise Schaefer, Patrick Edery, Fabienne Giuliano, Alice Goldenberg, Cyril Goizet, Agnès Guichet, Christian Herlin, Laetitia Lambert, Bruno Leheup, Jelena Martinovic, Sandra Mercier, Cyril Mignot, Marie-Laure Moutard, Marie-José Perez, Lucile Pinson, Jacques Puechberty, Marjolaine Willems, Hanitra Randrianaivo, Kateline Szaskon, Annick Toutain, Alain Verloes, Jacqueline Vigneron, Elodie Sanchez, Pierre Sarda, Jean-Louis Laplanche and Corinne Collet Genet Med 2016 18: 49-56; advance online publication, March 19, 2015; 10.1038/gim.2015.29 Abstract | Full Text Interactive multimedia consent for biobanking: a randomized trial Christian M. Simon, David W. Klein and Helen A. Schartz Genet Med 2016 18: 57-64; advance online publication, April 2, 2015; 10.1038/gim.2015.33 Abstract | Full Text Consumers report lower confidence in their genetics knowledge following direct-to-consumer personal genomic testing Deanna Alexis Carere, Peter Kraft, Kimberly A. Kaphingst, J. Scott Roberts and Robert C. Green ; for the PGen Study Group Genet Med 2016 18: 65-72; advance online publication, March 26, 2015; 10.1038/gim.2015.34 Abstract | Full Text A phase I/II study of intrathecal idursulfase-IT in children with severe mucopolysaccharidosis II OPEN Joseph Muenzer, Christian J. Hendriksz, Zheng Fan, Suresh Vijayaraghavan, Victor Perry, Saikat Santra, Guirish A. Solanki, Mary Ann Mascelli, Luying Pan, Nan Wang, Kenneth Sciarappa and Ann J. Barbier Genet Med 2016 18: 73-81; advance online publication, April 2, 2015; 10.1038/gim.2015.36 Abstract | Full Text Family decision maker perspectives on the return of genetic results in biobanking research Laura A. Siminoff, Heather M. Traino, Maghboeba Mosavel, Laura Barker, Glencora Gudger and Anita Undale ; the GTEx Consortium Genet Med 2016 18: 82-88; advance online publication, April 9, 2015; 10.1038/gim.2015.38 Abstract | Full Text Risk of new tumors in von Hippel–Lindau patients depends on age and genotype Marie Louise Mølgaard Binderup, Esben Budtz-Jørgensen and Marie Luise Bisgaard Genet Med 2016 18: 89-97; advance online publication, April 2, 2015; 10.1038/gim.2015.44 Abstract | Full Text Brief Report Top Difficulties in diagnosing Marfan syndrome using current FBN1 databases Kristian A. Groth, Mette Gaustadnes, Kasper Thorsen, John R. Østergaard, Uffe Birk Jensen, Claus H. Gravholt and Niels H. Andersen Genet Med 2016 18: 98-102; advance online publication, March 26, 2015; 10.1038/gim.2015.32 Abstract | Full Text Letter to the Editor Top Economic evaluation of whole-genome sequencing in healthy individuals: what can we learn from CEAs of whole-body CT screening? Christine Y. Lu Genet Med 2016 18: 103-104; advance online publication, December 3, 2015; 10.1038/gim.2015.159 Full Text Reviewers Top Reviewer Acknowledgment 2015 Genet Med 2016 18: 105-106; 10.1038/gim.2015.183 Full Text Addenda Top ADDENDUM: Technical standards and guidelines for myotonic dystrophy type 1 testing Genet Med 2016 18: 107; 10.1038/gim.2015.176 Full Text ADDENDUM: Laboratory guideline for Turner syndrome Genet Med 2016 18: 107; 10.1038/gim.2015.175 Full Text Corrigenda Top CORRIGENDUM: The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers Genet Med 2016 18: 108; 10.1038/gim.2015.178 Full Text Erratum Top ERRATUM: Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing Genet Med 2016 18: 108; 10.1038/gim.2015.174 Full Text Podcast Top Podcast FREE Podcast 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      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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