Genetics in Medicine contents: Volume 20, Issue 4

Advertisement Focal Point on Japan's Designated National University Initiative Japan's radical new program to boost just a handful of universities has precedents across the world Access free online   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 AOP   Sign in for free ACMG member access Advertisement 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 Kölker, Georg F Hoffmann & Markus Ries Genetics in Medicine 2017 20 :474 - 474; September 28, 2017; 10.1038/gim.2017.87   Abstract | Full Text Podcast Podcast FREE Podcast Natureevents is a fully searchable, multi-disciplinary database designed to maximise exposure for events organisers. The contents of the Natureevents Directory are now live. The digital version is available here. Find the latest scientific conferences, courses, meetings and symposia on natureevents.com. For event advertising opportunities across the Nature Publishing Group portfolio please contact natureevents@nature.com More Nature Events Please note that you need to be a subscriber or site-licence holder to enjoy full-text access to Genetics in Medicine. In order to do so, please purchase a subscription. 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 print subscription enquiries, please contact our subscription department. For other enquiries, please contact our customer feedback department. Springer Nature |One New York Plaza, Suite 4500 | New York | NY 10004-1562 | USA Springer Nature's worldwide offices: London - Paris - Munich - New Delhi - Tokyo - Melbourne San Diego - San Francisco - Washington - New York - Boston Macmillan Publishers Limited is a company incorporated in England and Wales under company number 785998 and whose registered office is located at The Campus, 4 Crinan Street, London, N1 9XW. © 2018 Macmillan Publishers Limited, part of Springer Nature. All Rights Reserved.