Genetics in Medicine contents: Volume 19, Issue 6

Advertisement CONSIDER RAVICTI® How might the only oral liquid nitrogen scavenger help your patients with UCDs? RAVICTI is contraindicated in patients less than 2 months of age and those hypersensitive to phenylbutyrate. See safety info. RAVICTI is owned by or licensed to Horizon.  ©2017 Horizon Therapeutics, Inc. All rights reserved.   TABLE OF CONTENTS Volume 19, Issue 6 (June 2017) In this issue Research Highlights Review Commentaries Original Research Articles Brief Reports 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: 607; 10.1038/gim.2017.72 Full Text News Briefs Genet Med 2017 19: 608; 10.1038/gim.2017.73 Full Text Review Top β-Thalassemia Raffaella Origa Genet Med 2017 19: 609-619; advance online publication, November 3, 2016; 10.1038/gim.2016.173 Abstract | Full Text Commentaries Top Precision engagement: the PMI’s success will depend on more than genomes and big data Jennifer K. Wagner, Cathryn Peltz-Rauchman, Alanna Kulchak Rahm and Christine C. Johnson Genet Med 2017 19: 620-624; advance online publication, October 27, 2016; 10.1038/gim.2016.165 Abstract | Full Text Managing sickle cell carrier results generated through newborn screening in Ontario: a precedent-setting policy story Robin Z. Hayeems, Charlotte Moore Hepburn, Pranesh Chakraborty, Isaac Odame, Joe Clarke, Fiona A. Miller and Adalsteinn D. Brown Genet Med 2017 19: 625-627; advance online publication, October 20, 2016; 10.1038/gim.2016.162 Full Text Original Research Articles Top Population screening for BRCA1/BRCA2 mutations: lessons from qualitative analysis of the screening experience Sari Lieberman, Amnon Lahad, Ariela Tomer, Carmit Cohen, Ephrat Levy-Lahad and Aviad Raz Genet Med 2017 19: 628-634; advance online publication, December 1, 2016; 10.1038/gim.2016.175 Abstract | Full Text Causes of death in Prader-Willi syndrome: Prader-Willi Syndrome Association (USA) 40-year mortality survey Merlin G. Butler, Ann M. Manzardo, Janalee Heinemann, Carolyn Loker and James Loker Genet Med 2017 19: 635-642; advance online publication, November 17, 2016; 10.1038/gim.2016.178 Abstract | Full Text Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerations Kinga M. Bujakowska, Rosario Fernandez-Godino, Emily Place, Mark Consugar, Daniel Navarro-Gomez, Joseph White, Emma C. Bedoukian, Xiaosong Zhu, Hongbo M. Xie, Xiaowu Gai, Bart P. Leroy and Eric A. Pierce Genet Med 2017 19: 643-651; advance online publication, October 13, 2016; 10.1038/gim.2016.158 Abstract | Full Text Early manifestations of type 1 Gaucher disease in presymptomatic children diagnosed after parental carrier screening Amy C. Yang, Louise Bier, Jessica R. Overbey, Jessica Cohen-Pfeffer, Khyati Desai, Robert J. Desnick and Manisha Balwani Genet Med 2017 19: 652-658; advance online publication, October 13, 2016; 10.1038/gim.2016.159 Abstract | Full Text Health screening behaviors among adults with hereditary hemorrhagic telangiectasia in North America Melanie Baxter, Lori Erby, Debra Roter, Barbara A. Bernhardt, Peter Terry and Alan Guttmacher Genet Med 2017 19: 659-666; advance online publication, October 13, 2016; 10.1038/gim.2016.161 Abstract | Full Text Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders OPEN Rolph Pfundt, Marisol del Rosario, Lisenka E.L.M. Vissers, Michael P. Kwint, Irene M. Janssen, Nicole de Leeuw, Helger G. Yntema, Marcel R. Nelen, Dorien Lugtenberg, Erik-Jan Kamsteeg, Nienke Wieskamp, Alexander P.A. Stegmann, Servi J.C. Stevens, Richard J.T. Rodenburg, Annet Simons, Arjen R. Mensenkamp, Tuula Rinne, Christian Gilissen, Hans Scheffer, Joris A. Veltman, Prof. Dr and Jayne Y. Hehir-Kwa Genet Med 2017 19: 667-675; advance online publication, October 27, 2016; 10.1038/gim.2016.163 Abstract | Full Text Evaluation of a Web-based decision aid for people considering the APOE genetic test for Alzheimer risk Michael Ekstract, Golde I. Holtzman, Kye Y. Kim, Susan M. Willis and Doris T. Zallen Genet Med 2017 19: 676-682; advance online publication, November 3, 2016; 10.1038/gim.2016.170 Abstract | Full Text The cost of molecular-guided therapy in oncology: a prospective cost study alongside the MOSCATO trial Arnaud Pagès, Stéphanie Foulon, Zhaomin Zou, Ludovic Lacroix, François Lemare, Thierry de Baère, Christophe Massard, Jean-Charles Soria and Julia Bonastre Genet Med 2017 19: 683-690; advance online publication, December 1, 2016; 10.1038/gim.2016.174 Abstract | Full Text Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients OPEN Livia Garavelli, Ivan Ivanovski, Stefano Giuseppe Caraffi, Daniela Santodirocco, Marzia Pollazzon, Duccio Maria Cordelli, Ebtesam Abdalla, Patrizia Accorsi, Margaret P. Adam, Chiara Baldo, Allan Bayat, Elga Belligni, Federico Bonvicini, Jeroen Breckpot, Bert Callewaert, Guido Cocchi, Goran Cuturilo, Koenraad Devriendt, Mary Beth Dinulos, Olivera Djuric, Roberta Epifanio, Francesca Faravelli, Debora Formisano, Lucio Giordano, Marina Grasso, Sabine Grønborg, Alessandro Iodice, Lorenzo Iughetti, Didier Lacombe, Massimo Maggi, Baris Malbora, Isabella Mammi, Sebastien Moutton, Rikke Møller, Petra Muschke, Manuela Napoli, Chiara Pantaleoni, Rosario Pascarella, Alessandro Pellicciari, Maria Luisa Poch-Olive, Federico Raviglione, Francesca Rivieri, Carmela Russo, Salvatore Savasta, Gioacchino Scarano, Angelo Selicorni, Margherita Silengo, Giovanni Sorge, Luigi Tarani, Luis Gonzaga Tone, Annick Toutain, Aurelien Trimouille, Elvis Terci Valera, Samantha Schrier Vergano, Nicoletta Zanotta, Marcella Zollino, William B Dobyns and Alex R Paciorkowski Genet Med 2017 19: 691-700; advance online publication, November 10, 2016; 10.1038/gim.2016.176 Abstract | Full Text Microduplication of the ARID1A gene causes intellectual disability with recognizable syndromic features Marie Bidart, Michèle El Atifi, Sarra Miladi, John Rendu, Véronique Satre, Pierre F. Ray, Caroline Bosson, Françoise Devillard, Daphné Lehalle, Valérie Malan, Jeanne Amiel, Maria Antonietta Mencarelli, Margherita Baldassarri, Alessandra Renieri, Jill Clayton-Smith, Gaëlle Vieville, Julien Thevenon, Florence Amblard, François Berger, Pierre-Simon Jouk and Charles Coutton Genet Med 2017 19: 701-710; advance online publication, December 1, 2016; 10.1038/gim.2016.180 Abstract | Full Text Brief Reports Top Ciliopathy variant burden and developmental delay in children with hypoplastic left heart syndrome Gabrielle C Geddes, Karl Stamm, Michael Mitchell, Kathleen A Mussatto and Aoy Tomita-Mitchell Genet Med 2017 19: 711-714; advance online publication, October 27, 2016; 10.1038/gim.2016.167 Abstract | Full Text Phenotypic predictors and final diagnoses in patients referred for RASopathy testing by targeted next-generation sequencing Elizabeth J. Bhoj, Zhenming Yu, Qiaoning Guan, Rebecca Ahrens-Nicklas, Kajia Cao, Minjie Luo, Tanya Tischler, Matthew A. Deardorff, Elaine Zackai and Avni B. Santani Genet Med 2017 19: 715-718; advance online publication, October 20, 2016; 10.1038/gim.2016.169 Abstract | 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. Springer Nature |Springer Nature | One New York Plaza, Suite 4500 | New York | NY 10004-1562 | USA Springer Nature'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. © 2017 Springer Nature, a division of Macmillan Publishers Limited. All Rights Reserved.