Genetics in Medicine contents: Volume 18, Issue 10

Advertisement Overcome NGS challenges in the clinic QIAGEN allows your clinical testing lab to achieve efficiencies and mitigate risk throughout the development and implementation of NGS-based tests.  Click here to learn how   TABLE OF CONTENTS Volume 18, Issue 10 (October 2016) In this issue Research Highlights Commentary Original Research Article Brief Report ACMG Statement Corrigendum Podcast Sign in for free ACMG member access nature.com webcasts Springer Nature presents a custom webcast on: Reveal hidden genetic variation by combining long-read target capture with SMRT Sequencing Date: Thursday October 13, 2016 Time: 8AM PDT, 11AM EDT, 4PM BST, 5PM CEST Register for FREE Sponsored by: PacBio 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: 961; 10.1038/gim.2016.140 Full Text News Briefs Genet Med 2016 18: 961-962; 10.1038/gim.2016.164 Full Text Commentary Top Epidemiology matters: peering inside the “black box” in economic evaluations of genetic testing Scott D. Grosse and Muin J. Khoury Genet Med 2016 18: 963-965; advance online publication, September 8, 2016; 10.1038/gim.2016.121 Full Text Original Research Article Top Cost-effectiveness of routine screening for Lynch syndrome in colorectal cancer patients up to 70 years of age Celine H. M. Leenen, Anne Goverde, Esther W. de Bekker-Grob, Anja Wagner, Margot G. F. van Lier, Manon C. W. Spaander, Marco J. Bruno, Carli M. Tops, Ans M. W. van den Ouweland, Hendrikus J. Dubbink, Ernst J. Kuipers, Winand N. M. Dinjens, Monique E. van Leerdam and Ewout W. Steyerberg ; on behalf of the LIMO study group Genet Med 2016 18: 966-973; advance online publication, March 3, 2016; 10.1038/gim.2015.206 Abstract | Full Text Improving performance of multigene panels for genomic analysis of cancer predisposition Brian H. Shirts, Silvia Casadei, Angela L. Jacobson, Ming K. Lee, Suleyman Gulsuner, Robin L. Bennett, Margaret Miller, Sarah A. Hall, Heather Hampel, Fuki M. Hisama, Lorraine V. Naylor, Cathleen Goetsch, Kathleen Leppig, Jonathan F. Tait, Sheena M. Scroggins, Emily H. Turner, Robert Livingston, Stephen J. Salipante, Mary-Claire King, Tom Walsh and Colin C. Pritchard Genet Med 2016 18: 974-981; advance online publication, February 4, 2016; 10.1038/gim.2015.212 Abstract | Full Text Implementation of the 21-gene recurrence score test in the United States in 2011 Julie A. Lynch, Brygida Berse, Valentina Petkov, Kelly Filipski, Yingjun Zhou, Muin J. Khoury, Michael Hassett and Andrew N. Freedman Genet Med 2016 18: 982-990; advance online publication, February 11, 2016; 10.1038/gim.2015.218 Abstract | Full Text Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis Carmen Diez-Fernandez, Véronique Rüfenacht, Saikat Santra, Allan M. Lund, René Santer, Martin Lindner, Trine Tangeraas, Caroline Unsinn, Pascale de Lonlay, Alberto Burlina, Clara D. M. van Karnebeek and Johannes Häberle Genet Med 2016 18: 991-1000; advance online publication, February 25, 2016; 10.1038/gim.2015.201 Abstract | Full Text New targets for monitoring and therapy in Barth syndrome W. Reid Thompson, Brittany DeCroes, Rebecca McClellan, Jessica Rubens, Frédéric M. Vaz, Kara Kristaponis, Dimitrios Avramopoulos and Hilary J. Vernon Genet Med 2016 18: 1001-1010; advance online publication, February 4, 2016; 10.1038/gim.2015.204 Abstract | Full Text Oncologists’ and cancer patients’ views on whole-exome sequencing and incidental findings: results from the CanSeq study Stacy W. Gray, Elyse R. Park, Julie Najita, Yolanda Martins, Lara Traeger, Elizabeth Bair, Joshua Gagne, Judy Garber, Pasi A. Jänne, Neal Lindeman, Carol Lowenstein, Nelly Oliver, Lynette Sholl, Eliezer M. Van Allen, Nikhil Wagle, Sam Wood, Levi Garraway and Steven Joffe Genet Med 2016 18: 1011-1019; advance online publication, February 11, 2016; 10.1038/gim.2015.207 Abstract | Full Text Clinical utility of a Web-enabled risk-assessment and clinical decision support program Lori A. Orlando, R. Ryanne Wu, Rachel A. Myers, Adam H. Buchanan, Vincent C. Henrich, Elizabeth R. Hauser and Geoffrey S. Ginsburg Genet Med 2016 18: 1020-1028; advance online publication, March 3, 2016; 10.1038/gim.2015.210 Abstract | Full Text Establishing the precise evolutionary history of a gene improves prediction of disease-causing missense mutations OPEN Ogun Adebali, Alexander O. Reznik, Daniel S. Ory and Igor B. Zhulin Genet Med 2016 18: 1029-1036; advance online publication, February 18, 2016; 10.1038/gim.2015.208 Abstract | Full Text Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing Ana I Vega, Celia Medrano, Rosa Navarrete, Lourdes R Desviat, Begoña Merinero, Pilar Rodríguez-Pombo, Isidro Vitoria, Magdalena Ugarte, Celia Pérez-Cerdá and Belen Pérez Genet Med 2016 18: 1037-1043; advance online publication, February 25, 2016; 10.1038/gim.2015.217 Abstract | Full Text Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1 Zachry T. Soens, Yuanyuan Li, Li Zhao, Aiden Eblimit, Rachayata Dharmat, Yumei Li, Yiyun Chen, Mohammed Naqeeb, Norma Fajardo, Irma Lopez, Zhaoxia Sun, Robert K. Koenekoop and Rui Chen Genet Med 2016 18: 1044-1051; advance online publication, January 28, 2016; 10.1038/gim.2015.205 Abstract | Full Text Brief Report Top Contribution of genomic copy-number variations in prenatal oral clefts: a multicenter cohort study Ye Cao, Zhihua Li, Jill A. Rosenfeld, Amber N. Pursley, Ankita Patel, Jin Huang, Huilin Wang, Min Chen, Xiaofang Sun, Tak Yeung Leung, Sau Wai Cheung and Kwong Wai Choy Genet Med 2016 18: 1052-1055; advance online publication, February 25, 2016; 10.1038/gim.2015.216 Abstract | Full Text ACMG Statement Top Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics Anthony R. Gregg, Brian G. Skotko, Judith L. Benkendorf, Kristin G. Monaghan, Komal Bajaj, Robert G. Best, Susan Klugman and Michael S. Watson ; on behalf of the ACMG Noninvasive Prenatal Screening Work Group Genet Med 2016 18: 1056-1065; advance online publication, July 28, 2016; 10.1038/gim.2016.97 Abstract | Full Text Corrigendum Top CORRIGENDUM: The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families Genet Med 2016 18: 1066; 10.1038/gim.2016.114 Full Text Podcast Top Podcast FREE Podcast You have been sent this Table of Contents Alert because you have opted in to receive it. 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