Genetics in Medicine contents: Volume 17, Issue 5

TABLE OF CONTENTS Volume 17, Issue 5 (May 2015) In this issue Research Highlights Systematic Review Review Original Research Article Education Report Brief Report ACMG Standards and Guidelines Genetic Legacy Erratum Podcast Facebook Twitter Subscribe Recommend to your library RSS ACMG Research Highlights Top In this Issue Genet Med 2015 17: 321; 10.1038/gim.2015.54 Full Text News Briefs Genet Med 2015 17: 321-322; 10.1038/gim.2015.61 Full Text Systematic Review Top Fabry disease in infancy and early childhood: a systematic literature review Dawn A. Laney, Dawn S. Peck, Andrea M. Atherton, Linda P. Manwaring, Katherine M. Christensen, Suma P. Shankar, Dorothy K. Grange, William R. Wilcox and Robert J. Hopkin Genet Med 2015 17: 323-330; advance online publication, September 18, 2014; 10.1038/gim.2014.120 Abstract | Full Text Review Top Naked bodies, naked genomes: the special (but not exceptional) nature of genomic information Daniel P. Sulmasy Genet Med 2015 17: 331-336; advance online publication, September 18, 2014; 10.1038/gim.2014.111 Abstract | Full Text Original Research Articles Top Development of DNA Confirmatory and High-Risk Diagnostic Testing for Newborns Using Targeted Next-Generation DNA Sequencing OPEN Arindam Bhattacharjee, Tanya Sokolsky, Stacia K. Wyman, Martin G. Reese, Erik Puffenberger, Kevin Strauss, Holmes Morton, Richard B. Parad and Edwin W. Naylor Genet Med 2015 17: 337-347; advance online publication, September 25, 2014; 10.1038/gim.2014.117 Abstract | Full Text Novel copy-number variants in a population-based investigation of classic heterotaxy Shannon L. Rigler, Denise M. Kay, Robert J. Sicko, Ruzong Fan, Aiyi Liu, Michele Caggana, Marilyn L. Browne, Charlotte M. Druschel, Paul A. Romitti, Lawrence C. Brody and James L. Mills Genet Med 2015 17: 348-357; advance online publication, September 18, 2014; 10.1038/gim.2014.112 Abstract | Full Text Fragile X full mutation expansions are inhibited by one or more AGG interruptions in premutation carriers OPEN Sarah L. Nolin, Anne Glicksman, Nicole Ersalesi, Carl Dobkin, W. Ted Brown, Ru Cao, Eliot Blatt, Sachin Sah, Gary J. Latham and Andrew G. Hadd Genet Med 2015 17: 358-364; advance online publication, September 11, 2014; 10.1038/gim.2014.106 Abstract | Full Text Long-term developmental progression in infants and young children taking sapropterin for phenylketonuria: a two-year analysis of safety and efficacy OPEN Nicola Longo, Komudi Siriwardena, Annette Feigenbaum, David Dimmock, Barbara K. Burton, Sylvia Stockler, Susan Waisbren, William Lang, Elaina Jurecki, Charlie Zhang and Suyash Prasad Genet Med 2015 17: 365-373; advance online publication, September 18, 2014; 10.1038/gim.2014.109 Abstract | Full Text Return of individual genetic results in a high-risk sample: enthusiasm and positive behavioral change Sarah M. Hartz, Emily Olfson, Robert Culverhouse, Patricia Cavazos-Rehg, Li-Shiun Chen, James DuBois, Sherri Fisher, Kimberly Kaphingst, David Kaufman, Andrew Plunk, Shelina Ramnarine, Stephanie Solomon, Nancy L. Saccone and Laura J. Bierut Genet Med 2015 17: 374-379; advance online publication, August 28, 2014; 10.1038/gim.2014.110 Abstract | Full Text Carrier testing in children: exploration of genetic health professionals’ practices in Australia Danya F. Vears, Clare Delany and Lynn Gillam Genet Med 2015 17: 380-385; advance online publication, September 18, 2014; 10.1038/gim.2014.116 Abstract | Full Text Education Report Top Surveying the current landscape of clinical genetics residency training Caleb P. Bupp, Laurie A. Demmer and Robert A. Saul Genet Med 2015 17: 386-390; advance online publication, September 18, 2014; 10.1038/gim.2014.108 Abstract | Full Text Brief Report Top Good survival outcome of metastatic SDH-deficient gastrointestinal stromal tumors harboring SDHA mutations OPEN Maria A. Pantaleo, Cristian Lolli, Margherita Nannini, Annalisa Astolfi, Valentina Indio, Maristella Saponara, Milena Urbini, Stefano La Rovere, Antony Gill, David Goldstein, Claudio Ceccarelli, Donatella Santini, Giulio Rossi, Michelangelo Fiorentino, Valerio Di Scioscio, Pietro Fusaroli, Anna Mandrioli, Lidia Gatto, Fausto Catena, Umberto Basso, Giorgio Ercolani, Antonio Daniele Pinna and Guido Biasco Genet Med 2015 17: 391-395; advance online publication, September 4, 2014; 10.1038/gim.2014.115 Abstract | Full Text Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability Ilaria Gandin, Flavio Faletra, Francesca Faletra, Massimo Carella, Vanna Pecile, Giovanni B. Ferrero, Elisa Biamino, Pietro Palumbo, Orazio Palumbo, Paolo Bosco, Corrado Romano, Chiara Belcaro, Diego Vozzi and Adamo P. d’Adamo Genet Med 2015 17: 396-399; advance online publication, September 18, 2014; 10.1038/gim.2014.118 Abstract | Full Text Single-nucleotide polymorphism arrays and unexpected consanguinity: considerations for clinicians when returning results to families Fernanda Delgado, Holly K. Tabor, Penny M. Chow, Jessie H. Conta, Kenneth W. Feldman, Karen D. Tsuchiya and Anita E. Beck Genet Med 2015 17: 400-404; advance online publication, September 18, 2014; 10.1038/gim.2014.119 Abstract | Full Text ACMG Standards and Guidelines Top Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding and Heidi L. Rehm ; on behalf of the ACMG Laboratory Quality Assurance Committee Genet Med 2015 17: 405-423; advance online publication, March 5, 2015; 10.1038/gim.2015.30 Abstract | Full Text Genetic Legacy Top Peripatetic southern cytogenetics Patricia N. Howard-Peebles Genet Med 2015 17: 424-425; 10.1038/gim.2014.159 Full Text Erratum Top ERRATUM: Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder Genet Med 2015 17: 426; 10.1038/gim.2015.3 Full Text Podcast Top Listen to the latest podcast here. 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 | 75 Varick Street, 9th Floor | New York | NY 10013-1917 | 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 at Brunel Road, Houndmills, Basingstoke, Hampshire RG21 6XS. © 2015 Nature Publishing Group, a division of Macmillan Publishers Limited. All Rights Reserved.