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Genetics in Medicine contents: Volume 20, Issue 8

Genetics in Medicine

Volume 20, Issue 8

In this issue
Review Article
Invited Comment
Invited Comment
Brief Communication
Also new
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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


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


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


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