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Genetics in Medicine contents: Volume 20, Issue 4

Genetics in Medicine

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TABLE OF CONTENTS

Volume 20, Issue 4 (April 2018)

In this issue
Research Highlights
Reviews
Commentary
Invited Commentary
Original Research Articles
Brief Reports
Corrigendum
Podcast
Also new
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Celebrating 20 years of Genetics in Medicine - 1998 to 2018

Thank you to the editors, board members, contributors, reviewers and readers, past and present for their invaluable contributions, and for bringing the journal to this milestone. 

Watch our anniversary video looking back at some Genetics in Medicine highlights >>> 

Research Highlights

In This Issue

 

Genetics in Medicine 2018 20 :381 - 381; April 10, 2018; 10.1038/gim.2018.49

 

Abstract | Full Text

News Briefs

 

Genetics in Medicine 2018 20 :382 - 382; April 10, 2018; 10.1038/gim.2018.54

 

Abstract | Full Text

Reviews

Clinical penetrance in hereditary hemochromatosis: estimates of the cumulative incidence of severe liver disease among HFE C282Y homozygotes

Scott D Grosse, Lyle C Gurrin, Nadine A Bertalli & Katrina J Allen

Genetics in Medicine 2017 20 :383 - 389; August 03, 2017; 10.1038/gim.2017.121

 

Abstract | Full Text

A proposed approach to accelerate evidence generation for genomic-based technologies in the context of a learning health system

Christine Y Lu, Marc S Williams, Geoffrey S Ginsburg, Sengwee Toh, Jeff S Brown et al.

Genetics in Medicine 2017 20 :390 - 396; August 10, 2017; 10.1038/gim.2017.122

 

Abstract | Full Text

Commentary

Precision medicine, health disparities, and ethics: the case for disability inclusion

Maya Sabatello

Genetics in Medicine 2017 20 :397 - 399; August 03, 2017; 10.1038/gim.2017.120

 

Abstract | Full Text

Invited Commentary

Recommending inclusion of HFE C282Y homozygotes in the ACMG actionable gene list: cop-out or stealth move toward population screening?

Anne-Marie Laberge

Genetics in Medicine 2017 20 :400 - 402; October 19, 2017; 10.1038/gim.2017.161

 

Abstract | Full Text

Original Research Articles

High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders

Mary Beth Stosser, Amanda S Lindy, Elizabeth Butler, Kyle Retterer, Caitlin M Piccirillo-Stosser et al.

Genetics in Medicine 2017 20 :403 - 410; August 24, 2017; 10.1038/gim.2017.114

 

Abstract | Full Text

Monoallelic and biallelic CREB3L1 variant causes mild and severe osteogenesis imperfecta, respectively

Rachel B Keller, Thao T Tran, Shawna M Pyott, Melanie G Pepin, Ravi Savarirayan et al.

Genetics in Medicine 2017 20 :411 - 419; August 17, 2017; 10.1038/gim.2017.115

 

Abstract | Full Text

Molecular autopsy in maternal–fetal medicine

Hanan E Shamseldin, Wesam Kurdi, Fatima Almusafri, Maha Alnemer, Alya Alkaff et al.

Genetics in Medicine 2017 20 :420 - 427; July 20, 2017; 10.1038/gim.2017.111

 

Abstract | Full Text

Trends in utilization and costs of BRCA testing among women aged 18–64 years in the United States, 2003–2014

Zhuo Chen, Katherine Kolor, Scott D Grosse, Juan L Rodriguez, Julie A Lynch et al.

Genetics in Medicine 2017 20 :428 - 434; September 21, 2017; 10.1038/gim.2017.118

 

Abstract | Full Text

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test

Anath C Lionel, Gregory Costain, Nasim Monfared, Susan Walker, Miriam S Reuter et al.

Genetics in Medicine 2017 20 :435 - 443; August 03, 2017; 10.1038/gim.2017.119

 

Abstract | Full Text

Revisiting mitochondrial diagnostic criteria in the new era of genomics

Peter Witters, Ann Saada, Tomas Honzik, Marketa Tesarova, Stephanie Kleinle et al.

Genetics in Medicine 2017 20 :444 - 451; October 26, 2017; 10.1038/gim.2017.125

 

Abstract | Full Text

Brief Reports

Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility

Irene Catucci, Ana Osorio, Brita Arver, Guido Neidhardt, Massimo Bogliolo et al.

Genetics in Medicine 2017 20 :452 - 457; August 24, 2017; 10.1038/gim.2017.123

 

Abstract | Full Text

Biallelic truncating FANCM mutations cause early-onset cancer but not Fanconi anemia

Massimo Bogliolo, Dominique Bluteau, James Lespinasse, Roser Pujol, Nadia Vasquez et al.

Genetics in Medicine 2017 20 :458 - 463; August 24, 2017; 10.1038/gim.2017.124

 

Abstract | Full Text

Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases

Loren D M Pena, Yong-Hui Jiang, Kelly Schoch, Rebecca C Spillmann, Nicole Walley et al.

Genetics in Medicine 2017 20 :464 - 469; September 14, 2017; 10.1038/gim.2017.128

 

Abstract | Full Text

Inferred inheritance of MorbidMap genes without OMIM clinical synopsis

Aamina Shakir, Michael Ripperger, Zhijie Jiang & Klaas J Wierenga

Genetics in Medicine 2017 20 :470 - 473; August 24, 2017; 10.1038/gim.2017.131

 

Abstract | Full Text

Corrigendum

Corrigendum: Quantitative clinical characteristics of 53 patients with MPS VII: a cross-sectional analysis

Matthias Zielonka, Sven F Garbade, Stefan K├Âlker, Georg F Hoffmann & Markus Ries

Genetics in Medicine 2017 20 :474 - 474; September 28, 2017; 10.1038/gim.2017.87

 

Abstract | Full Text

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