Genetics in Medicine contents: Volume 18, Issue 7

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 7 (July 2016) In this issue Research Highlights Review Systematic Review Commentary Invited Commentary Original Research Article Education Reports Brief Report Letter to the Editor Corrigendum Addendum Podcast Sign in for free ACMG member access Facebook Twitter Subscribe Recommend to your library RSS ACMG Advertisement We are pleased to announce that the Impact Factor* for Genetics in Medicine is now 7.710 - an increase from 7.329 last year. GIM is ranked 13 of 165 titles in the Genetics & Heredity category. The journal would like to thank all our authors, reviewers and readers for their continued support. (*Thomson Reuters 2015 Journal Citation Reports®)  Submit your research   Research Highlights Top In This Issue Genet Med 2016 18: 651; 10.1038/gim.2016.85 Full Text News Briefs Genet Med 2016 18: 651-652; 10.1038/gim.2016.93 Full Text Review Top Cystic fibrosis on the African continent Cheryl Stewart and Michael S. Pepper Genet Med 2016 18: 653-662; advance online publication, December 10, 2015; 10.1038/gim.2015.157 Abstract | Full Text Systematic Review Top A systematic literature review of individuals’ perspectives on broad consent and data sharing in the United States OPEN Nanibaa' A. Garrison, Nila A. Sathe, Armand H. Matheny Antommaria, Ingrid A. Holm, Saskia C. Sanderson, Maureen E. Smith, Melissa L. McPheeters and Ellen W. Clayton Genet Med 2016 18: 663-671; advance online publication, November 19, 2015; 10.1038/gim.2015.138 Abstract | Full Text Commentary Top Clinical utility of genetic and genomic services: context matters W. David Dotson, M. Scott Bowen, Katherine Kolor and Muin J. Khoury Genet Med 2016 18: 672-674; advance online publication, December 10, 2015; 10.1038/gim.2015.153 Full Text Invited Commentary Top Parental DNA sequence is critical family history in clinical genomics Michael F. Murray Genet Med 2016 18: 675-677; advance online publication, January 14, 2016; 10.1038/gim.2015.177 Full Text Original Research Article Top Molecular diagnostic experience of whole-exome sequencing in adult patients Jennifer E. Posey, Jill A. Rosenfeld, Regis A. James, Matthew Bainbridge, Zhiyv Niu, Xia Wang, Shweta Dhar, Wojciech Wiszniewski, Zeynep H. C. Akdemir, Tomasz Gambin, Fan Xia, Richard E. Person, Magdalena Walkiewicz, Chad A. Shaw, V. Reid Sutton, Arthur L. Beaudet, Donna Muzny, Christine M. Eng, Yaping Yang, Richard A. Gibbs, James R. Lupski, Eric Boerwinkle and Sharon E. Plon Genet Med 2016 18: 678-685; advance online publication, December 3, 2015; 10.1038/gim.2015.142 Abstract | Full Text Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort Ranad Shaheen, Nisha Patel, Hanan Shamseldin, Fatema Alzahrani, Ruah Al-Yamany, Agaadir ALMoisheer, Nour Ewida, Shamsa Anazi, Maha Alnemer, Mohamed Elsheikh, Khaled Alfaleh, Muneera Alshammari, Amal Alhashem, Abdullah A. Alangari, Mustafa A. Salih, Martin Kircher, Riza M. Daza, Niema Ibrahim, Salma M. Wakil, Ahmed Alaqeel, Ikhlas Altowaijri, Jay Shendure, Amro Al-Habib, Eissa Faqieh and Fowzan S. Alkuraya Genet Med 2016 18: 686-695; advance online publication, December 3, 2015; 10.1038/gim.2015.147 Abstract | Full Text Clinical application of whole-exome sequencing across clinical indications Kyle Retterer, Jane Juusola, Megan T. Cho, Patrik Vitazka, Francisca Millan, Federica Gibellini, Annette Vertino-Bell, Nizar Smaoui, Julie Neidich, Kristin G. Monaghan, Dianalee McKnight, Renkui Bai, Sharon Suchy, Bethany Friedman, Jackie Tahiliani, Daniel Pineda-Alvarez, Gabriele Richard, Tracy Brandt, Eden Haverfield, Wendy K. Chung and Sherri Bale Genet Med 2016 18: 696-704; advance online publication, December 3, 2015; 10.1038/gim.2015.148 Abstract | Full Text Institutional review board perspectives on obligations to disclose genetic incidental findings to research participants Catherine Gliwa, Ilana R. Yurkiewicz, Lisa Soleymani Lehmann, Sara Chandros Hull, Nathan Jones and Benjamin E. Berkman Genet Med 2016 18: 705-711; advance online publication, November 19, 2015; 10.1038/gim.2015.149 Abstract | Full Text VisCap: inference and visualization of germ-line copy-number variants from targeted clinical sequencing data OPEN Trevor J. Pugh, Sami S. Amr, Mark J. Bowser, Sivakumar Gowrisankar, Elizabeth Hynes, Lisa M. Mahanta, Heidi L. Rehm, Birgit Funke and Matthew S. Lebo Genet Med 2016 18: 712-719; advance online publication, December 17, 2015; 10.1038/gim.2015.156 Abstract | Full Text Using a gene expression signature when controversy exists regarding the indication for adjuvant systemic treatment reduces the proportion of patients receiving adjuvant chemotherapy: a nationwide study A. Kuijer, A. C. M. van Bommel, C. A. Drukker, M. van der Heiden-van der Loo, C. H. Smorenburg, P. J. Westenend, S. C. Linn, E. J.Th. Rutgers, S. G. Elias and Th. van Dalen Genet Med 2016 18: 720-726; advance online publication, November 19, 2015; 10.1038/gim.2015.152 Abstract | Full Text Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma OPEN Susana Puig, Miriam Potrony, Francisco Cuellar, Joan Anton Puig-Butille, Cristina Carrera, Paula Aguilera, Eduardo Nagore, Zaida Garcia-Casado, Celia Requena, Rajiv Kumar, Gilles Landman, Bianca Costa Soares de Sá, Gisele Gargantini Rezze, Luciana Facure, Alexandre Leon Ribeiro de Avila, Maria Isabel Achatz, Dirce Maria Carraro, João Pedreira Duprat Neto, Thais C. Grazziotin, Renan R. Bonamigo, Maria Carolina W. Rey, Claudia Balestrini, Enrique Morales, Montserrat Molgo, Renato Marchiori Bakos, Patricia Ashton-Prolla, Roberto Giugliani, Alejandra Larre Borges, Virginia Barquet, Javiera Pérez, Miguel Martínez, Horacio Cabo, Emilia Cohen Sabban, Clara Latorre, Blanca Carlos-Ortega, Julio C Salas-Alanis, Roger Gonzalez, Zulema Olazaran, Josep Malvehy and Celia Badenas Genet Med 2016 18: 727-736; advance online publication, December 17, 2015; 10.1038/gim.2015.160 Abstract | Full Text Education Reports Top What works in genomics education: outcomes of an evidenced-based instructional model for community-based physicians E. Kate Reed, Katherine A. Johansen Taber, Therese Ingram Nissen, Suzanna Schott, Lynn O. Dowling, James C. O'Leary and Joan A. Scott Genet Med 2016 18: 737-745; advance online publication, November 19, 2015; 10.1038/gim.2015.144 Abstract | Full Text Brief Report Top Mosaic mutations in early-onset genetic diseases Matt Halvorsen, Slavé Petrovski, Renée Shellhaas, Yingying Tang, Laura Crandall, David Goldstein and Orrin Devinsky Genet Med 2016 18: 746-749; advance online publication, December 30, 2015; 10.1038/gim.2015.155 Abstract | Full Text Letter to the Editor Top Biobanks and consent with a terminal clause Rafał Kamil Patryn and Anna Zagaja Genet Med 2016 18: 750; advance online publication, March 31, 2016; 10.1038/gim.2016.26 Full Text Response to Patryn and Zagaja Nanibaa’ A. Garrison, Ellen W. Clayton, Maureen E. Smith and Ingrid A. Holm Genet Med 2016 18: 751; advance online publication, April 14, 2016; 10.1038/gim.2016.27 Full Text Corrigendum Top CORRIGENDUM: Phenotype-driven gene target definition in clinical genome-wide sequencing data interpretation Genet Med 2016 18: 752; 10.1038/gim.2016.64 Full Text Addendum Top ADDENDUM: Technical standards and guidelines for spinal muscular atrophy testing Genet Med 2016 18: 752; 10.1038/gim.2016.76 Full Text Podcast Top Podcast FREE Podcast Advertisement Have you tried listening to the Genepod, the podcast from Genetics in Medicine? Hear direct from the experts, wherever you are and on whatever device. Past topics have included: Investigating the lower risk of solid tumors in Down Syndrome New and Old Quandaries in Newborn Screening Time and effort to practice medical genetics: an expanding challenge   Listen to the Genepod and expand your genetics knowledge for free   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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