Genetics in Medicine contents: Volume 20, Issue 8

TABLE OF CONTENTS Volume 20, Issue 8 In this issue Review Article Invited Comment Comment Invited Comment Article Brief Communication Podcast Also new AOP   Sign in for free ACMG member access Review Article Next-generation sequencing and prenatal 'omics: advanced diagnostics and new insights into human development Neeta L. Vora & Lisa Hui Genetics in Medicine 2018 20 :791 - 799; July 22, 2018; 10.1038/s41436-018-0087-4   Abstract | Full Text Invited Comment Mosaic disorders and the Taxonomy of Human Disease Leslie G Biesecker Genetics in Medicine 2018 20 :800 - 801; December 07, 2018; 10.1038/gim.2017.213   Abstract | Full Text Comment Metaphors matter: from biobank to a library of medical information Mildred K Cho, Nina Varsava, Stephanie A Kraft, Gary Ashwal, Katie Gillespie et al. Genetics in Medicine 2017 20 :802 - 805; December 21, 2017; 10.1038/gim.2017.204   Abstract | Full Text Invited Comment The differential diagnosis of a TP53 genetic testing result Suzanne P MacFarland & Kara N Maxwell Genetics in Medicine 2018 20 :806 - 808; January 11, 2018; 10.1038/gim.2017.250   Abstract | Full Text Article Somatic TP53 variants frequently confound germ-line testing results Jeffrey N Weitzel, Elizabeth C Chao, Bita Nehoray, Lily R Van Tongeren, Holly LaDuca et al. Genetics in Medicine 2017 20 :809 - 816; November 30, 2017; 10.1038/gim.2017.196   Abstract | Full Text Informative priors on fetal fraction increase power of the noninvasive prenatal screen Hanli Xu, Shaowei Wang, Lin-Lin Ma, Shuai Huang, Lin Liang et al. Genetics in Medicine 2017 20 :817 - 824; November 09, 2017; 10.1038/gim.2017.186   Abstract | Full Text Prenatal reflex DNA screening for trisomies 21, 18, and 13 Nicholas J Wald, Wayne J Huttly, Jonathan P Bestwick, Robert Old, Joan K Morris et al. Genetics in Medicine 2017 20 :825 - 830; November 09, 2017; 10.1038/gim.2017.188   Abstract | Full Text Follow-up status during the first 5 years of life for metabolic disorders on the federal Recommended Uniform Screening Panel Lisa Feuchtbaum, Juan Yang & Robert Currier Genetics in Medicine 2017 20 :831 - 839; December 07, 2017; 10.1038/gim.2017.199   Abstract | Full Text Moonlighting newborn screening markers: the incidental discovery of a second-tier test for Pompe disease Silvia Tortorelli, Jason S Eckerman, Joseph J Orsini, Colleen Stevens, Jeremy Hart et al. Genetics in Medicine 2017 20 :840 - 846; November 02, 2017; 10.1038/gim.2017.190   Abstract | Full Text Precision newborn screening for lysosomal disorders Melissa M Minter Baerg, Stephanie D Stoway, Jeremy Hart, Lea Mott, Dawn S Peck et al. Genetics in Medicine 2017 20 :847 - 854; November 09, 2017; 10.1038/gim.2017.194   Abstract | Full Text Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers Rashesh V Sanghvi, Christian J Buhay, Bradford C Powell, Ellen A Tsai, Michael O Dorschner et al. Genetics in Medicine 2017 20 :855 - 866; November 16, 2017; 10.1038/gim.2017.192   Abstract | Full Text Ashkenazi Jewish genomic variants: integrating data from the Israeli National Genetic Database and gnomAD Joël Zlotogora, George P Patrinos & Vardiella Meiner Genetics in Medicine 2017 20 :867 - 871; November 16, 2017; 10.1038/gim.2017.193   Abstract | Full Text Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants Cheng Xu, Daniele Cassatella, Almer M van der Sloot, Richard Quinton, Michael Hauschild et al. Genetics in Medicine 2017 20 :872 - 881; November 16, 2017; 10.1038/gim.2017.197   Abstract | Full Text CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype Lara Rodriguez-Laguna, Kristina Ibañez, Gema Gordo, Sixto Garcia-Minaur, Fernando Santos-Simarro et al. Genetics in Medicine 2018 20 :882 - 889; February 15, 2018; 10.1038/gim.2017.200   Abstract | Full Text Brief Communication Risk of colorectal cancer for carriers of a germ-line mutation in POLE or POLD1 Daniel D Buchanan, Jenna R Stewart, Mark Clendenning, Christophe Rosty, Khalid Mahmood et al. Genetics in Medicine 2017 20 :890 - 895; November 09, 2017; 10.1038/gim.2017.185   Abstract | Full Text Podcast Podcast FREE Podcast Advertisement Nature Briefing is an essential round-up of science news, opinion and analysis, free in your inbox every weekday. With Nature Briefing, we'll keep you updated on the latest research, so you can focus on yours. 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