Genetics in Medicine contents: Volume 19, Issue 4

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All rights reserved.   TABLE OF CONTENTS Volume 19, Issue 4 (April 2017) In this issue Research Highlights Original Research Article Special Article Brief Report Corrigendum Podcast Sign in for free ACMG member access Facebook Twitter Subscribe Recommend to your library RSS ACMG Research Highlights Top In This Issue Genet Med 2017 19: 365; 10.1038/gim.2017.28 Full Text News Briefs Genet Med 2017 19: 366; 10.1038/gim.2017.29 Full Text Original Research Article Top NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development OPEN Dorien Baetens, Hans Stoop, Frank Peelman, Anne-Laure Todeschini, Toon Rosseel, Frauke Coppieters, Reiner A. Veitia, Leendert H.J. Looijenga, Elfride De Baere and Martine Cools Genet Med 2016 19: 367-376; advance online publication, August 4, 2016; 10.1038/gim.2016.118 Abstract | Full Text Clinical relevance of small copy-number variants in chromosomal microarray clinical testing Dana Hollenbeck, Crescenda L. Williams, Kathryn Drazba, Maria Descartes, Bruce R. Korf, S. Lane Rutledge, Edward J. Lose, Nathaniel H. Robin, Andrew J. Carroll and Fady M. Mikhail Genet Med 2017 19: 377-385; advance online publication, September 15, 2016; 10.1038/gim.2016.132 Abstract | Full Text Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections OPEN Josephina A.N. Meester, Geert Vandeweyer, Isabel Pintelon, Martin Lammens, Lana Van Hoorick, Simon De Belder, Kathryn Waitzman, Luciana Young, Larry W. Markham, Julie Vogt, Julie Richer, Luc M. Beauchesne, Sheila Unger, Andrea Superti-Furga, Milan Prsa, Rami Dhillon, Edwin Reyniers, Harry C. Dietz, Wim Wuyts, Geert Mortier, Aline Verstraeten, Lut Van Laer and Bart L. Loeys Genet Med 2016 19: 386-395; advance online publication, September 15, 2016; 10.1038/gim.2016.126 Abstract | Full Text Successful outcomes of older adolescents and adults with profound biotinidase deficiency identified by newborn screening Barry Wolf Genet Med 2017 19: 396-402; advance online publication, September 22, 2016; 10.1038/gim.2016.135 Abstract | Full Text A secondary benefit: the reproductive impact of carrier results from newborn screening for cystic fibrosis Yvonne Bombard, Fiona A. Miller, Carolyn J. Barg, Sarah J. Patton, June C. Carroll, Pranesh Chakraborty, Beth K. Potter, Karen Tam, Louise Taylor, Elizabeth Kerr, Christine Davies, Jennifer Milburn, Felix Ratjen, Astrid Guttmann and Robin Z. Hayeems Genet Med 2017 19: 403-411; advance online publication, September 8, 2016; 10.1038/gim.2016.125 Abstract | Full Text Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene Mir Reza Bekheirnia, Nasim Bekheirnia, Matthew N. Bainbridge, Shen Gu, Zeynep Hande Coban Akdemir, Tomek Gambin, Nicolette K. Janzen, Shalini N. Jhangiani, Donna M. Muzny, Mini Michael, Eileen D. Brewer, Ewa Elenberg, Arundhati S. Kale, Alyssa A. Riley, Sarah J. Swartz, Daryl A. Scott, Yaping Yang, Poyyapakkam R. Srivaths, Scott E. Wenderfer, Joann Bodurtha, Carolyn D. Applegate, Milen Velinov, Angela Myers, Lior Borovik, William J. Craigen, Neil A. Hanchard, Jill A. Rosenfeld, Richard Alan Lewis, Edmond T. Gonzales, Richard A. Gibbs, John W. Belmont, David R. Roth, Christine Eng, Michael C. Braun, James R. Lupski and Dolores J. Lamb Genet Med 2017 19: 412-420; advance online publication, September 22, 2016; 10.1038/gim.2016.131 Abstract | Full Text Multidisciplinary model to implement pharmacogenomics at the point of care Pedro J. Caraballo, Lucy S. Hodge, Suzette J. Bielinski, A. Keith Stewart, Gianrico Farrugia, Cloann G. Schultz, Carolyn R. Rohrer-Vitek, Janet E. Olson, Jennifer L. St. Sauver, Veronique L. Roger, Mark A. Parkulo, Iftikhar J. Kullo, Wayne T. Nicholson, Michelle A. Elliott, John L. Black and Richard M. Weinshilboum Genet Med 2017 19: 421-429; advance online publication, September 22, 2016; 10.1038/gim.2016.120 Abstract | Full Text The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat OPEN Elfrida R. Benjamin, Maria Cecilia Della Valle, Xiaoyang Wu, Evan Katz, Farhana Pruthi, Sarah Bond, Benjamin Bronfin, Hadis Williams, Julie Yu, Daniel G. Bichet, Dominique P. Germain, Roberto Giugliani, Derralynn Hughes, Raphael Schiffmann, William R. Wilcox, Robert J. Desnick, John Kirk, Jay Barth, Carrolee Barlow, Kenneth J. Valenzano, Jeff Castelli and David J. Lockhart Genet Med 2016 19: 430-438; advance online publication, September 22, 2016; 10.1038/gim.2016.122 Abstract | Full Text Estimation of the number of people with Down syndrome in the United States Gert de Graaf, Frank Buckley and Brian G. Skotko Genet Med 2017 19: 439-447; advance online publication, September 8, 2016; 10.1038/gim.2016.127 Abstract | Full Text Streamlined genetic education is effective in preparing women newly diagnosed with breast cancer for decision making about treatment-focused genetic testing: a randomized controlled noninferiority trial Veronica F. Quinn, Bettina Meiser, Judy Kirk, Kathy M. Tucker, Kaaren J. Watts, Belinda Rahman, Michelle Peate, Christobel Saunders, Elizabeth Geelhoed, Margaret Gleeson, Kristine Barlow-Stewart, Michael Field, Marion Harris, Yoland C. Antill, Linda Cicciarelli, Karen Crowe, Michael T. Bowen and Gillian Mitchell ; for the TFGT Collaborative Group Genet Med 2017 19: 448-456; advance online publication, September 29, 2016; 10.1038/gim.2016.130 Abstract | Full Text arrEYE: a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs OPEN Caroline Van Cauwenbergh, Kristof Van Schil, Robrecht Cannoodt, Miriam Bauwens, Thalia Van Laethem, Sarah De Jaegere, Wouter Steyaert, Tom Sante, Björn Menten, Bart P. Leroy, Frauke Coppieters and Elfride De Baere Genet Med 2016 19: 457-466; advance online publication, September 8, 2016; 10.1038/gim.2016.119 Abstract | Full Text Special Article Top My46: a Web-based tool for self-guided management of genomic test results in research and clinical settings Holly K. Tabor, Seema M. Jamal, Joon-Ho Yu, Julia M. Crouch, Aditi G. Shankar, Karin M. Dent, Nick Anderson, Damon A. Miller, Brett T. Futral and Michael J. Bamshad Genet Med 2017 19: 467-475; advance online publication, September 15, 2016; 10.1038/gim.2016.133 Abstract | Full Text Brief Report Top Genome-wide multilocus imprinting disturbance analysis in Temple syndrome and Kagami-Ogata syndrome OPEN Masayo Kagami, Keiko Matsubara, Kazuhiko Nakabayashi, Akie Nakamura, Shinichiro Sano, Kohji Okamura, Kenichiro Hata, Maki Fukami and Tsutomu Ogata Genet Med 2016 19: 476-482; advance online publication, September 15, 2016; 10.1038/gim.2016.123 Abstract | Full Text Corrigendum Top CORRIGENDUM: Commentary on the decision of the American Board of Medical Genetics and Genomics to create a 24-month specialty of Laboratory Genetics and Genomics Genet Med 2017 19: 483; 10.1038/gim.2017.16 Full Text CORRIGENDUM: Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics Genet Med 2017 19: 484; 10.1038/gim.2017.17 Full Text Podcast Top Podcast FREE Podcast You have been sent this Table of Contents Alert because you have opted in to receive it. 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