Genetics in Medicine contents: Volume 18, Issue 11

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 11 (November 2016) In this issue Research Highlights Review Commentary Original Research Article Brief Report Letter to the Editor Corrigendum Podcast Sign in for free ACMG member access Advertisement Nature Outlook: Precision Medicine Health care that is tailored on the basis of an individual’s genes, lifestyle or environment, is not a modern concept. But advances in genetics and the growing availability of health data for researchers and physicians promise to make this new era of medicine more personalized than ever before. Access the Outlook free online Sponsored by:  Illumina, Inc. Facebook Twitter Subscribe Recommend to your library RSS ACMG 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!    Research Highlights Top In This Issue Genet Med 2016 18: 1067; 10.1038/gim.2016.168 Full Text News Briefs Genet Med 2016 18: 1067-1068; 10.1038/gim.2016.172 Full Text Review Top Towards a more representative morphology: clinical and ethical considerations for including diverse populations in diagnostic genetic atlases Maya Koretzky, Vence L. Bonham, Benjamin E. Berkman, Paul Kruszka, Adebowale Adeyemo, Maximilian Muenke and Sara Chandros Hull Genet Med 2016 18: 1069-1074; advance online publication, March 10, 2016; 10.1038/gim.2016.7 Abstract | Full Text Recommendations for the integration of genomics into clinical practice Sarah Bowdin, Adel Gilbert, Emma Bedoukian, Christopher Carew, Margaret P. Adam, John Belmont, Barbara Bernhardt, Leslie Biesecker, Hans T. Bjornsson, Miriam Blitzer, Lisa C.A. D’Alessandro, Matthew A. Deardorff, Laurie Demmer, Alison Elliott, Gerald L. Feldman, Ian A. Glass, Gail Herman, Lucia Hindorff, Fuki Hisama, Louanne Hudgins, A. Micheil Innes, Laird Jackson, Gail Jarvik, Raymond Kim, Bruce Korf, David H. Ledbetter, Mindy Li, Eriskay Liston, Christian Marshall, Livija Medne, M. Stephen Meyn, Nasim Monfared, Cynthia Morton, John J. Mulvihill, Sharon E. Plon, Heidi Rehm, Amy Roberts, Cheryl Shuman, Nancy B. Spinner, D. James Stavropoulos, Kathleen Valverde, Darrel J. Waggoner, Alisha Wilkens, Ronald D. Cohn and Ian D. Krantz Genet Med 2016 18: 1075-1084; advance online publication, May 12, 2016; 10.1038/gim.2016.17 Abstract | Full Text Commentary Top An electronic atlas of human malformation syndromes in diverse populations Maximilian Muenke, Adebowale Adeyemo and Paul Kruszka Genet Med 2016 18: 1085-1087; advance online publication, March 3, 2016; 10.1038/gim.2016.3 Full Text Archibald E. Garrod: the father of precision medicine Robert L. Perlman and Diddahally R. Govindaraju Genet Med 2016 18: 1088-1089; advance online publication, March 10, 2016; 10.1038/gim.2016.5 Full Text Original Research Article Top A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders Zornitza Stark, Tiong Y. Tan, Belinda Chong, Gemma R. Brett, Patrick Yap, Maie Walsh, Alison Yeung, Heidi Peters, Dylan Mordaunt, Shannon Cowie, David J. Amor, Ravi Savarirayan, George McGillivray, Lilian Downie, Paul G. Ekert, Christiane Theda, Paul A. James, Joy Yaplito-Lee, Monique M. Ryan, Richard J. Leventer, Emma Creed, Ivan Macciocca, Katrina M. Bell, Alicia Oshlack, Simon Sadedin, Peter Georgeson, Charlotte Anderson, Natalie Thorne,  Melbourne Genomics Health Alliance, Clara Gaff and Susan M White Genet Med 2016 18: 1090-1096; advance online publication, March 3, 2016; 10.1038/gim.2016.1 Abstract | Full Text Expanded carrier screening in an infertile population: how often is clinical decision making affected? Jason M. Franasiak, Meir Olcha, Paul A. Bergh, Kathleen H. Hong, Marie D. Werner, Eric J. Forman, Rebekah S. Zimmerman and Richard T. Scott, Jr Genet Med 2016 18: 1097-1101; advance online publication, March 3, 2016; 10.1038/gim.2016.8 Abstract | Full Text Phenotype-driven gene target definition in clinical genome-wide sequencing data interpretation Maver Ales, Lovrecic Luca, Volk Marija, Rudolf Gorazd, Writzl Karin, Blatnik Ana, Hodzic Alenka and Borut Peterlin Genet Med 2016 18: 1102-1110; advance online publication, March 31, 2016; 10.1038/gim.2016.22 Abstract | Full Text The complex behavioral phenotype of 15q13.3 microdeletion syndrome Mark N. Ziats, Robin P. Goin-Kochel, Leandra N. Berry, May Ali, Jun Ge, Danielle Guffey, Jill A. Rosenfeld, Patricia Bader, Michael J. Gambello, Varina Wolf, Lynette S. Penney, Ryan Miller, Robert Roger Lebel, Jeffrey Kane, Kristine Bachman, Robin Troxell, Gary Clark, Charles G. Minard, Pawel Stankiewicz, Arthur Beaudet and Christian P. Schaaf Genet Med 2016 18: 1111-1118; advance online publication, March 10, 2016; 10.1038/gim.2016.9 Abstract | Full Text Targeted next-generation sequencing makes new molecular diagnoses and expands genotype–phenotype relationship in Ehlers–Danlos syndrome Ruwan A. Weerakkody, Jana Vandrovcova, Christina Kanonidou, Michael Mueller, Piyush Gampawar, Yousef Ibrahim, Penny Norsworthy, Jennifer Biggs, Abdulshakur Abdullah, David Ross, Holly A. Black, David Ferguson, Nicholas J. Cheshire, Hanadi Kazkaz, Rodney Grahame, Neeti Ghali, Anthony Vandersteen, F. Michael Pope and Timothy J. Aitman Genet Med 2016 18: 1119-1127; advance online publication, March 24, 2016; 10.1038/gim.2016.14 Abstract | Full Text Taking advantage of an old concept, “illegitimate transcription”, for a proposed novel method of genetic diagnosis of McArdle disease Ines Garcia-Consuegra, Alberto Blázquez, Juan Carlos Rubio, Joaquín Arenas, Alfonsina Ballester-Lopez, Adrián González-Quintana, Antoni L. Andreu, Tomàs Pinós, Jaume Coll-Cantí, Alejandro Lucia, Gisela Nogales-Gadea and Miguel A. Martín Genet Med 2016 18: 1128-1135; advance online publication, February 25, 2016; 10.1038/gim.2015.219 Abstract | Full Text Patient safety in genomic medicine: an exploratory study Diane M. Korngiebel, Stephanie M. Fullerton and Wylie Burke Genet Med 2016 18: 1136-1142; advance online publication, March 24, 2016; 10.1038/gim.2016.16 Abstract | Full Text The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations Chun-An Chen, Daniëlle G. M. Bosch, Megan T. Cho, Jill A. Rosenfeld, Marwan Shinawi, Richard Alan Lewis, John Mann, Parul Jayakar, Katelyn Payne, Laurence Walsh, Timothy Moss, Allison Schreiber, Cheri Schoonveld, Kristin G. Monaghan, Frances Elmslie, Ganka Douglas, F. Nienke Boonstra, Francisca Millan, Frans P. M. Cremers, Dianalee McKnight, Gabriele Richard, Jane Juusola, Fran Kendall, Keri Ramsey, Kwame Anyane-Yeboa, Elfrida Malkin, Wendy K. Chung, Dmitriy Niyazov, Juan M. Pascual, Magdalena Walkiewicz, Vivekanand Veluchamy, Chumei Li, Fuki M. Hisama, Bert B. A. de Vries and Christian Schaaf Genet Med 2016 18: 1143-1150; advance online publication, March 17, 2016; 10.1038/gim.2016.18 Abstract | Full Text Low risk of solid tumors in persons with Down syndrome Henrik Hasle, Jan M. Friedman, Jørgen H. Olsen and Sonja A. Rasmussen Genet Med 2016 18: 1151-1157; advance online publication, March 31, 2016; 10.1038/gim.2016.23 Abstract | Full Text Brief Report Top Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis Charlotte W. Ockeloen, Kriti D. Khandelwal, Karoline Dreesen, Kerstin U. Ludwig, Robert Sullivan, Iris A. L. M. van Rooij, Michelle Thonissen, Steven Swinnen, Milien Phan, Federica Conte, Nina Ishorst, Christian Gilissen, Laury Roa Fuentes, Maartje van de Vorst, Arjen Henkes, Marloes Steehouwer, Ellen van Beusekom, Marjon Bloemen, Bruno Vankeirsbilck, Stefaan Bergé, Greet Hens, Joseph Schoenaers, Vincent Vander Poorten, Jasmien Roosenboom, An Verdonck, Koen Devriendt, Nel Roeleveldt, Shalini N. Jhangiani, Lisenka E.L.M. Vissers, James R. Lupski, Joep de Ligt, Johannes W. Von den Hoff, Rolph Pfundt, Han G. Brunner, Huiqing Zhou, Jill Dixon, Elisabeth Mangold, Hans van Bokhoven, Michael J. Dixon, Tjitske Kleefstra, Alexander Hoischen and Carine E. L. Carels Genet Med 2016 18: 1158-1162; advance online publication, March 10, 2016; 10.1038/gim.2016.10 Abstract | Full Text Letter to the Editor Top Imprinting: the Achilles heel of trio-based exome sequencing Emmelien Aten, Michael D. Fountain, Arie van Haeringen, Christian P. Schaaf and Gijs W.E. Santen Genet Med 2016 18: 1163-1164; advance online publication, September 15, 2016; 10.1038/gim.2016.128 Full Text An openly available online tool for implementing the ACMG/AMP standards and guidelines for the interpretation of sequence variants Jeffrey Kleinberger, Kristin A. Maloney, Toni I. Pollin and Linda Jo Bone Jeng Genet Med 2016 18: 1165; advance online publication, March 17, 2016; 10.1038/gim.2016.13 Full Text Corrigendum Top CORRIGENDUM: Distributive justice, diversity, and inclusion in precision medicine: what will success look like? Genet Med 2016 18: 1166; 10.1038/gim.2016.148 Full Text CORRIGENDUM: Prediction of CYP2D6 phenotype from genotype across world populations Genet Med 2016 18: 1167; 10.1038/gim.2016.160 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). For further technical assistance, please contact our registration department. For other enquiries, please contact our customer feedback department. Nature Publishing Group |Nature Publishing Group | One New York Plaza, Suite 4500 | New York | NY 10004-1562 | USA Nature Publishing Group's worldwide offices: London - Paris - Munich - New Delhi - Tokyo - Melbourne San Diego - San Francisco - Washington - New York - Boston Macmillan Publishers Limited is a company incorporated in England and Wales under company number 785998 and whose registered office is located The Campus, 4 Crinan Street, London, N1 9XW. © 2016 Nature Publishing Group, a division of Macmillan Publishers Limited. All Rights Reserved.