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Genetics in Medicine contents: Volume 19, Issue 7

Genetics in Medicine
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TABLE OF CONTENTS

Volume 19, Issue 7 (July 2017)

In this issue
Research Highlights
ACMG Statement
Systematic Review
Reviews
Commentary
Original Research Articles
Education Report
Brief Report
Special Article
Podcast


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Research Highlights

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In This Issue

Genet Med 2017 19: 719; 10.1038/gim.2017.95

Full Text

News Briefs

Genet Med 2017 19: 720; 10.1038/gim.2017.98

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ACMG Statement

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Laboratory and clinical genomic data sharing is crucial to improving genetic health care: a position statement of the American College of Medical Genetics and Genomics

 ACMG Board of Directors

Genet Med 2017 19: 721-722; advance online publication, January 5, 2017; 10.1038/gim.2016.196

Abstract | Full Text

Genome editing in clinical genetics: points to consider—a statement of the American College of Medical Genetics and Genomics

 ACMG Board of Directors

Genet Med 2017 19: 723-724; advance online publication, January 26, 2017; 10.1038/gim.2016.195

Abstract | Full Text

Systematic Review

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Genetics/genomics education for nongenetic health professionals: a systematic literature review

Divya Talwar, Tung-Sung Tseng, Margaret Foster, Lei Xu and Lei-Shih Chen

Genet Med 2017 19: 725-732; advance online publication, October 20, 2016; 10.1038/gim.2016.156

Abstract | Full Text

Reviews

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Transthyretin V122I (pV142I)* cardiac amyloidosis: an age-dependent autosomal dominant cardiomyopathy too common to be overlooked as a cause of significant heart disease in elderly African Americans

Joel N. Buxbaum and Frederick L. Ruberg

Genet Med 2017 19: 733-742; advance online publication, January 19, 2017; 10.1038/gim.2016.200

Abstract | Full Text

The Precision Medicine Initiative’s All of Us Research Program: an agenda for research on its ethical, legal, and social issues

Pamela L. Sankar and Lisa S. Parker

Genet Med 2017 19: 743-750; advance online publication, December 8, 2016; 10.1038/gim.2016.183

Abstract | Full Text

Commentary

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Medical genetics and genomics education: how do we define success? Where do we focus our resources?

Robin L Bennett, Darrel Waggoner and Miriam G Blitzer

Genet Med 2017 19: 751-753; advance online publication, June 15, 2017; 10.1038/gim.2017.77

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Original Research Articles

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Population screening for BRCA1/BRCA2 founder mutations in Ashkenazi Jews: proactive recruitment compared with self-referral

Sari Lieberman, Ariela Tomer, Avi Ben-Chetrit, Oded Olsha, Shalom Strano, Rachel Beeri, Sivan Koka, Hila Fridman, Karen Djemal, Itzhak Glick, Todd Zalut, Shlomo Segev, Miri Sklair, Bella Kaufman, Amnon Lahad, Aviad Raz and Ephrat Levy-Lahad

Genet Med 2017 19: 754-762; advance online publication, December 8, 2016; 10.1038/gim.2016.182

Abstract | Full Text

The value of genetic testing: beyond clinical utility

Barbara Lerner, Nell Marshall, Sabine Oishi, Andrew Lanto, Martin Lee, Alison B. Hamilton, Elizabeth M. Yano and Maren T. Scheuner

Genet Med 2017 19: 763-771; advance online publication, December 15, 2016; 10.1038/gim.2016.186

Abstract | Full Text

Evaluating the quality of Marfan genotype–phenotype correlations in existing FBN1 databases

Kristian A. Groth, Yskert Von Kodolitsch, Kerstin Kutsche, Mette Gaustadnes, Kasper Thorsen, Niels H. Andersen and Claus H. Gravholt

Genet Med 2017 19: 772-777; advance online publication, December 1, 2016; 10.1038/gim.2016.181

Abstract | Full Text

The clinical utility of DNA-based screening for fetal aneuploidy by primary obstetrical care providers in the general pregnancy population OPEN

Glenn E. Palomaki, Edward M. Kloza, Barbara M. O’Brien, Elizabeth E. Eklund and Geralyn M. Lambert-Messerlian

Genet Med 2017 19: 778-786; advance online publication, January 12, 2017; 10.1038/gim.2016.194

Abstract | Full Text

Assigning clinical meaning to somatic and germ-line whole-exome sequencing data in a prospective cancer precision medicine study

Arezou A. Ghazani, Nelly M. Oliver, Joseph P. St. Pierre, Andrea Garofalo, Irene R. Rainville, Elaine Hiller, Daniel J. Treacy, Vanesa Rojas-Rudilla, Sam Wood, Elizabeth Bair, Michael Parello, Franklin Huang, Marios Giannakis, Frederick H. Wilson, Elizabeth H. Stover, Steven M. Corsello, Tom Nguyen, Huma Q. Rana, Alanna J. Church, Carol Lowenstein, Carrie Cibulskis, Ali Amin-Mansour, Jennifer Heng, Lauren Brais, Abigail Santos, Patrick Bauer, Amanda Waldron, Peter Lo, Megan Gorman, Christine A. Lydon, Marisa Welch, Philip McNamara, Stacey Gabriel, Lynette M. Sholl, Neal I. Lindeman, Judy E. Garber, Steven Joffe, Eliezer M. Van Allen, Stacy W. Gray, Pasi A. Jänne, Levi A. Garraway and Nikhil Wagle

Genet Med 2017 19: 787-795; advance online publication, January 26, 2017; 10.1038/gim.2016.191

Abstract | Full Text

Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes

Hideki Muramatsu, Yusuke Okuno, Kenichi Yoshida, Yuichi Shiraishi, Sayoko Doisaki, Atsushi Narita, Hirotoshi Sakaguchi, Nozomu Kawashima, Xinan Wang, Yinyan Xu, Kenichi Chiba, Hiroko Tanaka, Asahito Hama, Masashi Sanada, Yoshiyuki Takahashi, Hitoshi Kanno, Hiroki Yamaguchi, Shouichi Ohga, Atsushi Manabe, Hideo Harigae, Shinji Kunishima, Eiichi Ishii, Masao Kobayashi, Kenichi Koike, Kenichiro Watanabe, Etsuro Ito, Minoru Takata, Miharu Yabe, Seishi Ogawa, Satoru Miyano and Seiji Kojima

Genet Med 2017 19: 796-802; advance online publication, January 19, 2017; 10.1038/gim.2016.197

Abstract | Full Text

Genome sequencing and carrier testing: decisions on categorization and whether to disclose results of carrier testing OPEN

Patricia Himes, Tia L. Kauffman, Kristin R. Muessig, Laura M. Amendola, Jonathan S. Berg, Michael O. Dorschner, Marian Gilmore, Deborah A. Nickerson, Jacob A. Reiss, C. Sue Richards, Alan F. Rope, Dana K. Simpson, Benjamin S. Wilfond, Gail P. Jarvik and Katrina A.B. Goddard

Genet Med 2017 19: 803-808; advance online publication, January 12, 2017; 10.1038/gim.2016.198

Abstract | Full Text

A curated gene list for reporting results of newborn genomic sequencing

Ozge Ceyhan-Birsoy, Kalotina Machini, Matthew S. Lebo, Tim W. Yu, Pankaj B. Agrawal, Richard B. Parad, Ingrid A. Holm, Amy McGuire, Robert C. Green, Alan H. Beggs and Heidi L. Rehm ; for the BabySeq Project

Genet Med 2017 19: 809-818; advance online publication, January 12, 2017; 10.1038/gim.2016.193

Abstract | Full Text

Participant-perceived understanding and perspectives on pharmacogenomics: the Mayo Clinic RIGHT protocol (Right Drug, Right Dose, Right Time)

Janet E. Olson, Carolyn R. Rohrer Vitek, Elizabeth J. Bell, Michaela E. McGree, Debra J. Jacobson, Jennifer L. St. Sauver, Pedro J. Caraballo, Joan M. Griffin, Veronique L. Roger and Suzette J. Bielinski

Genet Med 2017 19: 819-825; advance online publication, January 5, 2017; 10.1038/gim.2016.192

Abstract | Full Text

Education Report

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The collaborative African genomics network training program: a trainee perspective on training the next generation of African scientists OPEN

Busisiwe C. Mlotshwa, Savannah Mwesigwa, Gerald Mboowa, Lesedi Williams, Gaone Retshabile, Adeodata Kekitiinwa, Misaki Wayengera, Samuel Kyobe, Chester W. Brown, Neil A. Hanchard, Graeme Mardon, Moses Joloba, Gabriel Anabwani and Sununguko W. Mpoloka

Genet Med 2017 19: 826-833; advance online publication, April 6, 2017; 10.1038/gim.2016.177

Abstract | Full Text

Brief Report

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PhenX measures for phenotyping rare genetic conditions

Michael Phillips, Tracey Grant, Philip Giampietro, Joann Bodurtha, Rodolfo Valdez, Deborah R. Maiese, Tabitha Hendershot, Sharon F. Terry and Carol M. Hamilton

Genet Med 2017 19: 834-837; advance online publication, January 12, 2017; 10.1038/gim.2016.199

Abstract | Full Text

Special Article

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Public variant databases: liability? OPEN

Adrian Thorogood, Robert Cook-Deegan and Bartha Maria Knoppers

Genet Med 2017 19: 838-841; advance online publication, December 15, 2016; 10.1038/gim.2016.189

Abstract | Full Text

Podcast

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Podcast

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