Genetics in Medicine contents: Volume 17, Issue 11

TABLE OF CONTENTS Volume 17, Issue 11 (November 2015) In this issue Research Highlights Review Commentary Original Research Article Education Report Brief Report Genetic Legacy Podcast   COMPLETE SUCCESS BEGINS WITH NGS SAMPLE QC The new Agilent 4200 TapeStation system is a complete solution for true end-to-end sample QC within any NGS workflow covering the full DNA and RNA sizing range. Walk-away operation with fully automated sample process Flexible sampling from 1 to 96 samples Ready-to-use ScreenTape Learn more. Facebook Twitter Subscribe Recommend to your library RSS ACMG Advertisement Have you tried listening to the Genepod from Genetics in Medicine? Hear experts talk about the latest research in medical genetics and genomics - listen online or download for free! http://www.nature.com/gim/podcast/archivetranscripts.html Research Highlights Top In this Issue Genet Med 2015 17: 841; 10.1038/gim.2015.146 Full Text News Briefs Genet Med 2015 17: 841-842; 10.1038/gim.2015.158 Full Text Review Top The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature Marije E. C. Meuwissen, Dicky J. J. Halley, Liesbeth S. Smit, Maarten H. Lequin, Jan M. Cobben, René de Coo, Jeske van Harssel, Suzanne Sallevelt, Gwendolyn Woldringh, Marjo S. van der Knaap, Linda S. de Vries and Grazia M. S. Mancini Genet Med 2015 17: 843-853; advance online publication, February 26, 2015; 10.1038/gim.2014.210 Abstract | Full Text Commentary Top Returning pharmacogenetic secondary findings from genome sequencing: let’s not put the cart before the horse A. Cecile J. W. Janssens and James P. Evans Genet Med 2015 17: 854-856; advance online publication, May 7, 2015; 10.1038/gim.2015.59 Full Text Pushing the envelope in genomics education Bruce R. Korf Genet Med 2015 17: 857-858; advance online publication, March 19, 2015; 10.1038/gim.2015.20 Full Text Original Research Articles Top Symptom-driven idiopathic disease gene identification OPEN Bhuvan Molparia, Phillip H. Pham and Ali Torkamani Genet Med 2015 17: 859-865; advance online publication, January 15, 2015; 10.1038/gim.2014.202 Abstract | Full Text How do students react to analyzing their own genomes in a whole-genome sequencing course?: outcomes of a longitudinal cohort study OPEN Saskia C. Sanderson, Michael D. Linderman, Randi Zinberg, Ali Bashir, Andrew Kasarskis, Micol Zweig, Sabrina Suckiel, Hardik Shah, Milind Mahajan, George A. Diaz and Eric E. Schadt Genet Med 2015 17: 866-874; advance online publication, January 29, 2015; 10.1038/gim.2014.203 Abstract | Full Text Assessing the utility of confirmatory studies following identification of large-scale genomic imbalances by microarray Jennifer N. Sanmann, Diane L. Pickering, Denae M. Golden, Jadd M. Stevens, Thomas E. Hempel, Pamela A. Althof, Michele L. Wiggins, Lois J. Starr, Bhavana J. Davé and Warren G. Sanger Genet Med 2015 17: 875-879; advance online publication, January 15, 2015; 10.1038/gim.2014.204 Abstract | Full Text Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity Ahmed A. Alfares, Melissa A. Kelly, Gregory McDermott, Birgit H. Funke, Matthew S. Lebo, Samantha B. Baxter, Jun Shen, Heather M. McLaughlin, Eugene H. Clark, Larry J. Babb, Stephanie W. Cox, Steven R. DePalma, Carolyn Y. Ho, J. G. Seidman, Christine E. Seidman and Heidi L. Rehm Genet Med 2015 17: 880-888; advance online publication, January 22, 2015; 10.1038/gim.2014.205 Abstract | Full Text Haplotype-based approach for noninvasive prenatal tests of Duchenne muscular dystrophy using cell-free fetal DNA in maternal plasma Yan Xu, Xuchao Li, Hui-juan Ge, Bing Xiao, Yan-Yan Zhang, Xiao-Min Ying, Xiao-Yu Pan, Lei Wang, Wei-Wei Xie, Lin Ni, Sheng-Pei Chen, Wen-Ting Jiang, Ping Liu, Hui Ye, Ying Cao, Jing-Min Zhang, Yu Liu, Zu-Jing Yang, Ying-Wei Chen, Fang Chen, Hui Jiang and Xing Ji Genet Med 2015 17: 889-896; advance online publication, February 5, 2015; 10.1038/gim.2014.207 Abstract | Full Text Is maternal plasma DNA testing impacting serum-based screening for aneuploidy in the United States? Glenn E. Palomaki, Edward R. Ashwood, Robert G. Best, Geralyn Lambert-Messerlian and George J. Knight Genet Med 2015 17: 897-900; advance online publication, April 2, 2015; 10.1038/gim.2015.39 Abstract | Full Text Whole-exome sequencing reveals diverse modes of inheritance in sporadic mild to moderate sensorineural hearing loss in a pediatric population Nayoung K. D. Kim, Ah Reum Kim, Kyung Tae Park, So Young Kim, Min Young Kim, Jae-Yong Nam, Se Jun Woo, Seung-Ha Oh, Woong-Yang Park and Byung Yoon Choi Genet Med 2015 17: 901-911; advance online publication, February 26, 2015; 10.1038/gim.2014.213 Abstract | Full Text CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy Kathryn L. Berrier, Zoheb B. Kazi, Sean N. Prater, Deeksha S. Bali, Jennifer Goldstein, Mihaela C. Stefanescu, Catherine W. Rehder, Eleanor G. Botha, Carolyn Ellaway, Kaustuv Bhattacharya, Anna Tylki-Szymanska, Nesrin Karabul, Amy S. Rosenburg and Priya S. Kishnani Genet Med 2015 17: 912-918; advance online publication, March 5, 2015; 10.1038/gim.2015.6 Abstract | Full Text Assessing multilevel determinants of adoption and implementation of genomic medicine: an organizational mixed-methods approach Sabine M. Oishi, Nell Marshall, Alison B. Hamilton, Elizabeth M. Yano, Barbara Lerner and Maren T. Scheuner Genet Med 2015 17: 919-926; advance online publication, March 5, 2015; 10.1038/gim.2015.7 Abstract | Full Text Education Report Top Training future physicians in the era of genomic medicine: trends in undergraduate medical genetics education Jevon Plunkett-Rondeau, Katherine Hyland and Shoumita Dasgupta Genet Med 2015 17: 927-934; advance online publication, February 12, 2015; 10.1038/gim.2014.208 Abstract | Full Text Brief Report Top Savior siblings and Fanconi anemia: analysis of success rates from the family’s perspective Juan P. Trujillo and Jordi Surralles Genet Med 2015 17: 935-938; advance online publication, February 12, 2015; 10.1038/gim.2014.206 Abstract | Full Text Development of clinical decision support alerts for pharmacogenomic incidental findings from exome sequencing Adam A. Nishimura, Brian H. Shirts, Michael O. Dorschner, Laura M. Amendola, Joe W. Smith, Gail P. Jarvik and Peter Tarczy-Hornoch Genet Med 2015 17: 939-942; advance online publication, March 5, 2015; 10.1038/gim.2015.5 Abstract | Full Text Genetic Legacy Top Gene–environment interactions Reed E. Pyeritz Genet Med 2015 17: 943-945; advance online publication, September 10, 2015; 10.1038/gim.2015.126 Full Text Podcast Top Listen to the latest podcast here. 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