Genetics in Medicine contents: Volume 17, Issue 8

TABLE OF CONTENTS Volume 17, Issue 8 (August 2015) In this issue Research Highlights Review Commentary Original Research Article Systematic Review Letter to the Editor Corrigendum Podcast 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 7.329 - an increase from 6.435 last year. GIM is ranked 15 of 167 titles in the Genetics & Heredity category. The journal would like to thank all our authors, reviewers and readers for their continued support. (*Thomson Reuters 2014 Journal Citation Reports®)  »Submit your research Research Highlights Top In this Issue Genet Med 2015 17: 597; 10.1038/gim.2015.99 Full Text News Briefs Genet Med 2015 17: 597-598; 10.1038/gim.2015.116 Full Text Review Top Practical guidelines for managing adults with 22q11.2 deletion syndrome Wai Lun Alan Fung, Nancy J. Butcher, Gregory Costain, Danielle M. Andrade, Erik Boot, Eva W.C. Chow, Brian Chung, Cheryl Cytrynbaum, Hanna Faghfoury, Leona Fishman, Sixto García-Miñaúr, Susan George, Anthony E. Lang, Gabriela Repetto, Andrea Shugar, Candice Silversides, Ann Swillen, Therese van Amelsvoort, Donna M. McDonald-McGinn and Anne S. Bassett Genet Med 2015 17: 599-609; advance online publication, January 8, 2015; 10.1038/gim.2014.175 Abstract | Full Text Toward an improved definition of the genetic and tumor spectrum associated with SDH germ-line mutations Lucie Evenepoel, Thomas G. Papathomas, Niels Krol, Esther Korpershoek, Ronald R. de Krijger, Alexandre Persu and Winand N.M. Dinjens Genet Med 2015 17: 610-620; advance online publication, November 13, 2014; 10.1038/gim.2014.162 Abstract | Full Text Commentary Top The hidden harm behind the return of results from personal genome services: a need for rigorous and responsible evaluation A. Cecile J.W. Janssens Genet Med 2015 17: 621-622; advance online publication, November 20, 2014; 10.1038/gim.2014.169 Full Text Original Research Articles Top Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohort OPEN Kyle Retterer, Julie Scuffins, Daniel Schmidt, Rachel Lewis, Daniel Pineda-Alvarez, Amanda Stafford, Lindsay Schmidt, Stephanie Warren, Federica Gibellini, Anastasia Kondakova, Amanda Blair, Sherri Bale, Ludmila Matyakhina, Jeanne Meck, Swaroop Aradhya and Eden Haverfield Genet Med 2015 17: 623-629; advance online publication, November 6, 2014; 10.1038/gim.2014.160 Abstract | Full Text Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer Kara N. Maxwell, Bradley Wubbenhorst, Kurt D’Andrea, Bradley Garman, Jessica M. Long, Jacquelyn Powers, Katherine Rathbun, Jill E. Stopfer, Jiajun Zhu, Angela R. Bradbury, Michael S. Simon, Angela DeMichele, Susan M. Domchek and Katherine L. Nathanson Genet Med 2015 17: 630-638; advance online publication, December 11, 2014; 10.1038/gim.2014.176 Abstract | Full Text Inbreeding among Caribbean Hispanics from the Dominican Republic and its effects on risk of Alzheimer disease Badri N. Vardarajan, Daniel J. Schaid, Christiane Reitz, Rafael Lantigua, Martin Medrano, Ivonne Z. Jiménez-Velázquez, Joseph H. Lee, Mahdi Ghani, Ekaterina Rogaeva, Peter St George-Hyslop and Richard P. Mayeux Genet Med 2015 17: 639-643; advance online publication, November 13, 2014; 10.1038/gim.2014.161 Abstract | Full Text Researchers’ views on informed consent for return of secondary results in genomic research Paul S. Appelbaum, Abby Fyer, Robert L. Klitzman, Josue Martinez, Erik Parens, Yuan Zhang and Wendy K. Chung Genet Med 2015 17: 644-650; advance online publication, December 11, 2014; 10.1038/gim.2014.163 Abstract | Full Text Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations Carine Villanueva, Elka Jacobson-Dickman, Cheng Xu, Sylvie Manouvrier, Andrew A. Dwyer, Gerasimos P. Sykiotis, Andrew Beenken, Yang Liu, Johanna Tommiska, Youli Hu, Dov Tiosano, Marion Gerard, Juliane Leger, Valérie Drouin-Garraud, Hervé Lefebvre, Michel Polak, Jean-Claude Carel, Franziska Phan-Hug, Michael Hauschild, Lacey Plummer, Jean-Pierre Rey, Taneli Raivio, Pierre Bouloux, Yisrael Sidis, Moosa Mohammadi, Nicolas de Roux and Nelly Pitteloud Genet Med 2015 17: 651-659; advance online publication, November 13, 2014; 10.1038/gim.2014.166 Abstract | Full Text Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD OPEN Peter J. Shepard, Bruce A. Barshop, Matthias R. Baumgartner, John-Bjarne Hansen, Kristen Jepsen, Erin N. Smith and Kelly A. Frazer Genet Med 2015 17: 660-667; advance online publication, November 6, 2014; 10.1038/gim.2014.157 Abstract | Full Text Systematic Review Top Is there a duty to recontact in light of new genetic technologies? A systematic review of the literature Ellen Otten, Mirjam Plantinga, Erwin Birnie, Marian A. Verkerk, Anneke M. Lucassen, Adelita V. Ranchor and Irene M. Van Langen Genet Med 2015 17: 668-678; advance online publication, December 11, 2014; 10.1038/gim.2014.173 Abstract | Full Text Letter to the Editor Top Next-generation sequencing to estimate the prevalence of a great unknown: McArdle disease Gisela Nogales-Gadea, Tomàs Pinós, Antoni L. Andreu, Miguel A. Martín, Joaquin Arenas and Alejandro Lucia Genet Med 2015 17: 679-680; 10.1038/gim.2015.76 Full Text Response to Nogales-Gadea et al. Mauricio De Castro and Leslie G. Biesecker Genet Med 2015 17: 680-681; 10.1038/gim.2015.80 Full Text In sickness and in health: context matters when considering potential benefits and risks of genome-wide sequencing Kimberly A. Strong, Thomas May and Shawn A. Levy Genet Med 2015 17: 681-682; 10.1038/gim.2015.85 Full Text Response to Strong Wylie Burke and H Gilbert Welch Genet Med 2015 17: 682-683; 10.1038/gim.2015.87 Full Text Haploinsufficiency of the MYT1L gene causes intellectual disability frequently associated with behavioral disorder Sonia Mayo, Mónica Roselló, Sandra Monfort, Silvestre Oltra, Carmen Orellana and Francisco Martínez Genet Med 2015 17: 683-684; 10.1038/gim.2015.86 Full Text A PMS2-specific colorectal surveillance guideline Sanne W. ten Broeke and Maartje Nielsen Genet Med 2015 17: 684; 10.1038/gim.2015.91 Full Text Response to ten Broeke and Nielsen Noralane M. Lindor and McKinsey L. Goodenberger Genet Med 2015 17: 684-685; 10.1038/gim.2015.90 Full Text Corrigendum Top CORRIGENDUM: Treacher Collins syndrome: a clinical and molecular study based on a large series of patients Genet Med 2015 17: 686; 10.1038/gim.2015.62 Full Text Podcast Top Listen to the latest podcast here. 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