Genetics in Medicine contents: Volume 19, Issue 5

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All rights reserved.   TABLE OF CONTENTS Volume 19, Issue 5 (May 2017) In this issue Research Highlights Commentaries Original Research Articles Brief Report Letter to the Editors Corrigendum Podcast Sign in for free ACMG member access Facebook Twitter Subscribe Recommend to your library RSS ACMG Research Highlights Top In This Issue Genet Med 2017 19: 487-488; 10.1038/gim.2017.51 Full Text Commentaries Top The need for a next-generation public health response to rare diseases Rodolfo Valdez, Scott D. Grosse and Muin J. Khoury Genet Med 2017 19: 489-490; advance online publication, October 27, 2016; 10.1038/gim.2016.166 Abstract | Full Text Mastering genomic terminology Gail P. Jarvik and James P. Evans Genet Med 2017 19: 491-492; advance online publication, September 22, 2016; 10.1038/gim.2016.139 Full Text Ethical considerations for genetic testing in the context of mandated cardiac screening before athletic participation Emma F. Magavern, Lauren Badalato, Gherardo Finocchiaro and Pascal Borry Genet Med 2017 19: 493-495; advance online publication, September 22, 2016; 10.1038/gim.2016.146 Full Text Original Research Articles Top Using large sequencing data sets to refine intragenic disease regions and prioritize clinical variant interpretation Sami S. Amr, Saeed H. Al Turki, Matthew Lebo, Mahdi Sarmady, Heidi L. Rehm and Ahmad N. Abou Tayoun Genet Med 2017 19: 496-504; advance online publication, September 22, 2016; 10.1038/gim.2016.134 Abstract | Full Text Improving biobank consent comprehension: a national randomized survey to assess the effect of a simplified form and review/retest intervention OPEN Laura M. Beskow, Li Lin, Carrie B. Dombeck, Emily Gao and Kevin P. Weinfurt Genet Med 2017 19: 505-512; advance online publication, October 13, 2016; 10.1038/gim.2016.157 Abstract | Full Text All your data (effectively) belong to us: data practices among direct-to-consumer genetic testing firms Linnea I. Laestadius, Jennifer R. Rich and Paul L. Auer Genet Med 2017 19: 513-520; advance online publication, September 22, 2016; 10.1038/gim.2016.136 Abstract | Full Text Numerous Brugada syndrome–associated genetic variants have no effect on J-point elevation, syncope susceptibility, malignant cardiac arrhythmia, and all-cause mortality Jonas Ghouse, Christian T. Have, Morten W. Skov, Laura Andreasen, Gustav Ahlberg, Jonas B. Nielsen, Tea Skaaby, Søren-Peter Olesen, Niels Grarup, Allan Linneberg, Oluf Pedersen, Henrik Vestergaard, Stig Haunsø, Jesper H. Svendsen, Torben Hansen, Jørgen K. Kanters and Morten S. Olesen Genet Med 2017 19: 521-528; advance online publication, October 6, 2016; 10.1038/gim.2016.151 Abstract | Full Text Experiences from a pilot program bringing BRCA1/2 genetic screening to the US Ashkenazi Jewish population Chana Wiesman, Esther Rose, Allison Grant, Adam Zimilover, Susan Klugman and Nicole Schreiber-Agus Genet Med 2017 19: 529-536; advance online publication, October 13, 2016; 10.1038/gim.2016.154 Abstract | Full Text Prescription medication changes following direct-to-consumer personal genomic testing: findings from the Impact of Personal Genomics (PGen) Study Deanna Alexis Carere, Tyler J. VanderWeele, Jason L. Vassy, Cathelijne H. van der Wouden, J. Scott Roberts, Peter Kraft and Robert C. Green ; for the PGen Study Group Genet Med 2017 19: 537-545; advance online publication, September 22, 2016; 10.1038/gim.2016.141 Abstract | Full Text The collective impact of rare diseases in Western Australia: an estimate using a population-based cohort OPEN Caroline E. Walker, Trinity Mahede, Geoff Davis, Laura J. Miller, Jennifer Girschik, Kate Brameld, Wenxing Sun, Ana Rath, Ségolène Aymé, Stephen R. Zubrick, Gareth S. Baynam, Caron Molster, Hugh J.S. Dawkins and Tarun S. Weeramanthri Genet Med 2017 19: 546-552; advance online publication, September 22, 2016; 10.1038/gim.2016.143 Abstract | Full Text A dominant variant in DMXL2 is linked to nonsyndromic hearing loss Dong-Ye Chen, Xing-Feng Liu, Xiao-Jiang Lin, Dan Zhang, Yong-Chuan Chai, De-Hong Yu, Chang-Ling Sun, Xue-Ling Wang, Wei-Dong Zhu, Ying Chen, Lian-Hua Sun, Xiao-Wen Wang, Fu-Xin Shi, Zhi-Wu Huang, Tao Yang and Hao Wu Genet Med 2017 19: 553-558; advance online publication, September 22, 2016; 10.1038/gim.2016.142 Abstract | Full Text Payer decision making for next-generation sequencing–based genetic tests: insights from cell-free DNA prenatal screening Andrew P. Dervan, Patricia A. Deverka, Julia R. Trosman, Christine B. Weldon, Michael P. Douglas and Kathryn A. Phillips Genet Med 2017 19: 559-567; advance online publication, September 22, 2016; 10.1038/gim.2016.145 Abstract | Full Text Universal tumor screening for Lynch syndrome: health-care providers’ perspectives Yvonne Bombard, Linda Rozmovits, Anne Sorvari, Corinne Daly, June C. Carroll, Erin Kennedy, Linda Rabeneck and Nancy N. Baxter Genet Med 2017 19: 568-574; advance online publication, October 6, 2016; 10.1038/gim.2016.150 Abstract | Full Text A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories Julianne M. O’Daniel, Heather M. McLaughlin, Laura M. Amendola, Sherri J. Bale, Jonathan S. Berg, David Bick, Kevin M. Bowling, Elizabeth C. Chao, Wendy K. Chung, Laura K. Conlin, Gregory M. Cooper, Soma Das, Joshua L. Deignan, Michael O. Dorschner, James P. Evans, Arezou A. Ghazani, Katrina A. Goddard, Michele Gornick, Kelly D. Farwell Hagman, Tina Hambuch, Madhuri Hegde, Lucia A. Hindorff, Ingrid A. Holm, Gail P. Jarvik, Amy Knight Johnson, Lindsey Mighion, Massimo Morra, Sharon E. Plon, Sumit Punj, C. Sue Richards, Avni Santani, Brian H. Shirts, Nancy B. Spinner, Sha Tang, Karen E. Weck, Susan M. Wolf, Yaping Yang and Heidi L. Rehm Genet Med 2017 19: 575-582; advance online publication, November 3, 2016; 10.1038/gim.2016.152 Abstract | Full Text A comprehensive strategy for exome-based preconception carrier screening OPEN Suzanne C.E.H. Sallevelt, Bart de Koning, Radek Szklarczyk, Aimee D.C. Paulussen, Christine E.M. de Die-Smulders and Hubert J.M. Smeets Genet Med 2017 19: 583-592; advance online publication, October 27, 2016; 10.1038/gim.2016.153 Abstract | Full Text Increasing the sensitivity of clinical exome sequencing through improved filtration strategy Hanan E. Shamseldin, Sateesh Maddirevula, Eissa Faqeih, Niema Ibrahim, Mais Hashem, Ranad Shaheen and Fowzan S. Alkuraya Genet Med 2017 19: 593-598; advance online publication, October 6, 2016; 10.1038/gim.2016.155 Abstract | Full Text Brief Report Top Genetic modifiers of CHEK2*1100delC-associated breast cancer risk Taru A. Muranen, Dario Greco, Carl Blomqvist, Kristiina Aittomäki, Sofia Khan, Frans Hogervorst, Senno Verhoef, Paul D.P. Pharoah, Alison M. Dunning, Mitul Shah, Robert Luben, Stig E. Bojesen, Børge G. Nordestgaard, Minouk Schoemaker, Anthony Swerdlow, Montserrat García-Closas, Jonine Figueroa, Thilo Dörk, Natalia V. Bogdanova, Per Hall, Jingmei Li, Elza Khusnutdinova, Marina Bermisheva, Vessela Kristensen, Anne-Lise Borresen-Dale, NBCS Investigators, Julian Peto, Isabel dos Santos Silva, Fergus J. Couch, Janet E. Olson, Peter Hillemans, Tjoung-Won Park-Simon, Hiltrud Brauch, Ute Hamann, Barbara Burwinkel, Frederik Marme, Alfons Meindl, Rita K. Schmutzler, Angela Cox, Simon S. Cross, Elinor J. Sawyer, Ian Tomlinson, Diether Lambrechts, Matthieu Moisse, Annika Lindblom, Sara Margolin, Antoinette Hollestelle, John W.M. Martens, Peter A. Fasching, Matthias W. Beckmann, Irene L. Andrulis, Julia A. Knight, kConFab/AOCS Investigators, Hoda Anton-Culver, Argyrios Ziogas, Graham G. Giles, Roger L. Milne, Hermann Brenner, Volker Arndt, Arto Mannermaa, Veli-Matti Kosma, Jenny Chang-Claude, Anja Rudolph, Peter Devilee, Caroline Seynaeve, John L. Hopper, Melissa C. Southey, Esther M. John, Alice S. Whittemore, Manjeet K. Bolla, Qin Wang, Kyriaki Michailidou, Joe Dennis, Douglas F. Easton, Marjanka K. Schmidt and Heli Nevanlinna on behalf of the Breast Cancer Association Consortium Genet Med 2017 19: 599-603; advance online publication, October 6, 2016; 10.1038/gim.2016.147 Abstract | Full Text Letter to the Editors Top ACMG secondary findings 2.0 Leslie G Biesecker Genet Med 2017 19: 604; advance online publication, April 13, 2017; 10.1038/gim.2017.27 Full Text Response to Biesecker David T Miller and Christa L Martin Genet Med 2017 19: 605; advance online publication, April 13, 2017; 10.1038/gim.2017.25 Full Text Corrigendum Top CORRIGENDUM: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing Robert C Green, Jonathan S Berg, Wayne W Grody, Sarah S Kalia, Bruce R Korf, Christa L Martin, Amy L McGuire, Robert L Nussbaum, Julianne M O'Daniel, Kelly E Ormond, Heidi L Rehm, Michael S Watson, Marc S Williams and Leslie G Biesecker Genet Med 2017 19: 606; 10.1038/gim.2017.18 Full Text Podcast Top Podcast FREE Podcast You have been sent this Table of Contents Alert because you have opted in to receive it. 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