Genetics in Medicine contents: Volume 17, Issue 4

TABLE OF CONTENTS Volume 17, Issue 4 (April 2015) In this issue Research Highlights Review Original Research Article Brief Report Letter to the Editor Genetic Legacy Corrigendum Podcast Facebook Twitter Subscribe Recommend to your library RSS ACMG Research Highlights Top In this Issue Genet Med 2015 17: 243; 10.1038/gim.2015.40 Full Text News Briefs Genet Med 2015 17: 243-244; 10.1038/gim.2015.49 Full Text Review Top Navigating the current landscape of clinical genetic testing for inherited retinal dystrophies Kristy Lee and Seema Garg Genet Med 2015 17: 245-252; advance online publication, March 19, 2015; 10.1038/gim.2015.15 Abstract | Full Text Original Research Articles Top Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing Mark B. Consugar, Daniel Navarro-Gomez, Emily M. Place, Kinga M. Bujakowska, Maria E. Sousa, Zoë D. Fonseca-Kelly, Daniel G. Taub, Maria Janessian, Dan Yi Wang, Elizabeth D. Au, Katherine B. Sims, David A. Sweetser, Anne B. Fulton, Qin Liu, Janey L. Wiggs, Xiaowu Gai and Eric A. Pierce Genet Med 2015 17: 253-261; advance online publication, November 20, 2014; 10.1038/gim.2014.172 Abstract | Full Text Comprehensive analysis of patients with Stargardt macular dystrophy reveals new genotype–phenotype correlations and unexpected diagnostic revisions Jacques Zaneveld, Sorath Siddiqui, Huajin Li, Xia Wang, Hui Wang, Keqing Wang, Hui Li, Huanan Ren, Irma Lopez, Allison Dorfman, Ayesha Khan, Feng Wang, Jason Salvo, Violet Gelowani, Yumei Li, Ruifang Sui, Robert Koenekoop and Rui Chen Genet Med 2015 17: 262-270; advance online publication, December 4, 2014; 10.1038/gim.2014.174 Abstract | Full Text Genotype–phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing OPEN Xiu-Feng Huang, Fang Huang, Kun-Chao Wu, Juan Wu, Jie Chen, Chi-Pui Pang, Fan Lu, Jia Qu and Zi-Bing Jin Genet Med 2015 17: 271-278; advance online publication, November 6, 2014; 10.1038/gim.2014.138 Abstract | Full Text Whole-mitochondrial genome sequencing in primary open-angle glaucoma using massively parallel sequencing identifies novel and known pathogenic variants Periasamy Sundaresan, David A. Simpson, Chitra Sambare, Seamus Duffy, Judith Lechner, Aditi Dastane, Edward W. Dervan, Neeru Vallabh, Vidya Chelerkar, Madan Deshpande, Colm O'Brien, Amy Jayne McKnight and Colin E. Willoughby Genet Med 2015 17: 279-284; advance online publication, September 18, 2014; 10.1038/gim.2014.121 Abstract | Full Text Two specific mutations are prevalent causes of recessive retinitis pigmentosa in North American patients of Jewish ancestry OPEN Giulia Venturini, Hanna Koskiniemi-Kuendig, Shyana Harper, Eliot L. Berson and Carlo Rivolta Genet Med 2015 17: 285-290; advance online publication, September 25, 2014; 10.1038/gim.2014.132 Abstract | Full Text Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion Kristof Van Schil, Françoise Meire, Marcus Karlstetter, Miriam Bauwens, Hannah Verdin, Frauke Coppieters, Eva Scheiffert, Christian Van Nechel, Thomas Langmann, Nicolas Deconinck and Elfride De Baere Genet Med 2015 17: 291-299; advance online publication, August 14, 2014; 10.1038/gim.2014.95 Abstract | Full Text Mutations of P4HA2 encoding prolyl 4-hydroxylase 2 are associated with nonsyndromic high myopia Hui Guo, Ping Tong, Yanling Liu, Lu Xia, Tianyun Wang, Qi Tian, Ying Li, Yiqiao Hu, Yu Zheng, Xuemin Jin, Yunping Li, Wei Xiong, Beisha Tang, Yong Feng, Jiada Li, Qian Pan, Zhengmao Hu and Kun Xia Genet Med 2015 17: 300-306; advance online publication, March 5, 2015; 10.1038/gim.2015.28 Abstract | Full Text Brief Report Top Identification of false-negative mutations missed by next-generation sequencing in retinitis pigmentosa patients: a complementary approach to clinical genetic diagnostic testing OPEN Xiu-Feng Huang, Juan Wu, Ji-Neng Lv, Xiao Zhang and Zi-Bing Jin Genet Med 2015 17: 307-311; advance online publication, January 8, 2015; 10.1038/gim.2014.193 Abstract | Full Text Letter to the-Editor Top Is there a link between COQ6 and schwannomatosis? Eva Trevisson, Maurizio Clementi and Leonardo Salviati Genet Med 2015 17: 312-313; 10.1038/gim.2014.211 Full Text Response to Trevisson et al. OPEN Keqiang Zhang, Jia-Wei Lin, Wen-Ta Chiu and Yun Yen Genet Med 2015 17: 313-314; 10.1038/gim.2014.212 Full Text Key emerging themes for assessing the cost-effectiveness of reporting incidental findings Kathryn A. Phillips, Uri Ladabaum, Mark J. Pletcher, Deborah A. Marshall and Michael P. Douglas Genet Med 2015 17: 314-315; 10.1038/gim.2015.13 Full Text Response to Phillips et al. Caroline S. Bennette, Wylie Burke, Gail P. Jarvik and David L. Veenstra Genet Med 2015 17: 315; 10.1038/gim.2015.11 Full Text Genetic Legacy Top Hearts and hands as the starting point Lewis B. Holmes Genet Med 2015 17: 316-318; 10.1038/gim.2014.155 Full Text Corrigendum Top CORRIGENDUM: Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity Genet Med 2015 17: 319; 10.1038/gim.2015.16 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. 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