Genetics in Medicine contents: Volume 19, Issue 12

TABLE OF CONTENTS Volume 19, Issue 12 (December 2017) In this issue Online Only Reviews Research Highlights Reviews Invited Commentary Original Research Articles Brief Report Online Only Letters Podcast Sign in for free ACMG member access Facebook Twitter Subscribe Recommend to your library RSS ACMG Online Only Reviews Top Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations OPEN Jeffrey M Chinsky, Rani Singh, Can Ficicioglu, Clara D M van Karnebeek, Markus Grompe, Grant Mitchell, Susan E Waisbren, Muge Gucsavas-Calikoglu, Melissa P Wasserstein, Katie Coakley and C Ronald Scott Genet Med 2017 19: ; advance online publication, August 3, 2017; 10.1038/gim.2017.101 Abstract | Full Text Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society Sumit Parikh, Amy Goldstein, Amel Karaa, Mary Kay Koenig, Irina Anselm, Catherine Brunel-Guitton, John Christodoulou, Bruce H Cohen, David Dimmock, Gregory M Enns, Marni J Falk, Annette Feigenbaum, Richard E Frye, Jaya Ganesh, David Griesemer, Richard Haas, Rita Horvath, Mark Korson, Michael C Kruer, Michelangelo Mancuso, Shana McCormack, Marie Josee Raboisson, Tyler Reimschisel, Ramona Salvarinova, Russell P Saneto, Fernando Scaglia, John Shoffner, Peter W Stacpoole, Carolyn M Sue, Mark Tarnopolsky, Clara Van Karnebeek, Lynne A Wolfe, Zarazuela Zolkipli Cunningham, Shamima Rahman and Patrick F Chinnery Genet Med 2017 19: ; advance online publication, July 27, 2017; 10.1038/gim.2017.107 Abstract | Full Text Research Highlights Top In This Issue Genet Med 2017 19: 1287; 10.1038/gim.2017.202 Full Text News Briefs Genet Med 2017 19: 1288; 10.1038/gim.2017.225 Full Text Reviews Top Sharing data under the 21st Century Cures Act Mary A Majumder, Christi J Guerrini, Juli M Bollinger, Robert Cook-Deegan and Amy L McGuire Genet Med 2017 19: 1289-1294; advance online publication, May 25, 2017; 10.1038/gim.2017.59 Abstract | Full Text Invited Commentary Top Should we implement population screening for fragile X? David P Dimmock Genet Med 2017 19: 1295-1299; advance online publication, August 3, 2017; 10.1038/gim.2017.81 Full Text Original Research Articles Top Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders OPEN Maja Tarailo-Graovac, Jing Yun Alice Zhu, Allison Matthews, Clara D M van Karnebeek and Wyeth W Wasserman Genet Med 2017 19: 1300-1308; advance online publication, May 4, 2017; 10.1038/gim.2017.50 Abstract | Full Text A quantitative cSMART assay for noninvasive prenatal screening of autosomal recessive nonsyndromic hearing loss caused by GJB2 and SLC26A4 mutations Mingyu Han, Zhifeng Li, Wenlu Wang, Shasha Huang, Yanping Lu, Zhiying Gao, Longxia Wang, Dongyang Kang, Linwei Li, Yiqian Liu, Mengnan Xu, David S Cram and Pu Dai Genet Med 2017 19: 1309-1316; advance online publication, May 25, 2017; 10.1038/gim.2017.54 Abstract | Full Text Do the data really support ordering fragile X testing as a first-tier test without clinical features? OPEN Veronique Weinstein, Pranoot Tanpaiboon, Kimberly A Chapman, Nicholas Ah Mew and Sean Hofherr Genet Med 2017 19: 1317-1322; advance online publication, May 25, 2017; 10.1038/gim.2017.64 Abstract | Full Text Quantifying family dissemination and identifying barriers to communication of risk information in Australian BRCA families Emma Healey, Natalie Taylor, Sian Greening, Claire E Wakefield, Linda Warwick, Rachel Williams and Kathy Tucker Genet Med 2017 19: 1323-1331; advance online publication, May 11, 2017; 10.1038/gim.2017.52 Abstract | Full Text Genome-wide cfDNA screening: clinical laboratory experience with the first 10,000 cases Mathias Ehrich, John Tynan, Amin Mazloom, Eyad Almasri, Ron McCullough, Theresa Boomer, Daniel Grosu and Jason Chibuk Genet Med 2017 19: 1332-1337; advance online publication, June 15, 2017; 10.1038/gim.2017.56 Abstract | Full Text Population-based impact of noninvasive prenatal screening on screening and diagnostic testing for fetal aneuploidy Lisa Hui, Briohny Hutchinson, Alice Poulton and Jane Halliday Genet Med 2017 19: 1338-1345; advance online publication, May 18, 2017; 10.1038/gim.2017.55 Abstract | Full Text Informed decision making and psychosocial outcomes in pregnant and nonpregnant women offered population fragile X carrier screening Sylvia A Metcalfe, Melissa Martyn, Alice Ames, Vicki Anderson, Alison D Archibald, Grad Dip Gen Couns, Rob Carter, Jonathan Cohen, Megan Cotter, M GenCouns, William Dang, Martin B Delatycki, Susan Donath, Samantha Edwards, PGrad Dip Educ, Grad Dip Gen Couns, Robin Forbes, Grad Dip Gen Couns, Mioara Gavrila, M MedSci, Jane Halliday, Chriselle Hickerton, Melissa Hill, Grad Dip Gen Couns, Lorilli Jacobs, PGrad Dip Ultrasound, Vicki Petrou, Grad Dip Gen Couns, Loren Plunkett, M GenCouns, Leslie Sheffield, F RACP, Alison Thornton, Grad Dip Gen Couns, Sandra Younie, PGrad Dip Hlth Econ and Jon D Emery Genet Med 2017 19: 1346-1355; advance online publication, June 29, 2017; 10.1038/gim.2017.67 Abstract | Full Text Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients OPEN Masayo Kagami, Keisuke Nagasaki, Rika Kosaki, Reiko Horikawa, Yasuhiro Naiki, Shinji Saitoh, Toshihiro Tajima, Tohru Yorifuji, Chikahiko Numakura, Seiji Mizuno, Akie Nakamura, Keiko Matsubara, Maki Fukami and Tsutomu Ogata Genet Med 2017 19: 1356-1366; advance online publication, May 31, 2017; 10.1038/gim.2017.53 Abstract | Full Text Utilization of genomic sequencing for population screening of immunodeficiencies in the newborn Ashleigh R Pavey, Dale L Bodian, Thierry Vilboux, Alina Khromykh, Natalie S Hauser, Kathi Huddleston, Elisabeth Klein, Aaron Black, Megan S Kane, Ramaswamy K Iyer, John E Niederhuber and Benjamin D Solomon Genet Med 2017 19: 1367-1375; advance online publication, June 15, 2017; 10.1038/gim.2017.57 Abstract | Full Text Brief Report Top Quantifying survival in patients with Proteus syndrome Julie C Sapp, Lian Hu, Jean Zhao, Ashlyn Gruber, Brian Schwartz, Dora Ferrari and Leslie G Biesecker, MD Genet Med 2017 19: 1376-1379; advance online publication, June 29, 2017; 10.1038/gim.2017.65 Abstract | Full Text Online Only Letters Top Improving the evaluation of milestones for students completing a clinical genetics elective Paul Laissue, Carlos M Restrepo and Angela María Ortiz Genet Med 2017 19: ; advance online publication, May 11, 2017; 10.1038/gim.2017.62 Full Text Response to Laissue et al. Katharine Press and Joann Bodurtha Genet Med 2017 19: ; advance online publication, May 11, 2017; 10.1038/gim.2017.63 Full Text Management of ophthalmologic manifestations of mitochondrial diseases Nancy J Newman, Patrick Yu-Wai-Man, Alfredo A Sadun, Rustum Karanjia and Valerio Carelli Genet Med 2017 19: ; advance online publication, October 26, 2017; 10.1038/gim.2017.171 Full Text Response to Newman et al. Sumit Parikh, Amy Goldstein, Amel Karaa, Mary Kay Koenig, Irina Anselm, Catherine Brunel-Guitton, John Christodoulou, Bruce H Cohen, David Dimmock, Gregory M Enns, Marni J Falk, Annette Feigenbaum, Richard E Frye, Jaya Ganesh, David Griesemer, Richard Haas, Rita Horvath, Mark Korson, Michael C Kruer, Michelangelo Mancuso, Shana McCormack, Marie Josee Raboisson, Tyler Reimschisel, Ramona Salvarinova, Russell P Saneto, Fernando Scaglia, John Shoffner, Peter W Stacpoole, Carolyn M Sue, Mark Tarnopolsky, Clara Van Karnebeek, Lynne A Wolfe, Zarazuela Zolkipli Cunningham, Shamima Rahman and Patrick F Chinnery Genet Med 2017 19: ; advance online publication, October 26, 2017; 10.1038/gim.2017.164 Full Text Health effects of the CPT1A P479L variant: responsible public health policy David M Koeller, Matt Hirschfeld, Stephanie Birch, Thalia Wood, Rebekah Morisse, Sabra Anckner and Bradford D Gessner Genet Med 2017 19: ; advance online publication, August 3, 2017; 10.1038/gim.2017.116 Full Text Response to Koeller et al. Alison E Fohner, Nanibaa' A Garrison, Melissa A Austin and Wylie Burke Genet Med 2017 19: ; advance online publication, August 10, 2017; 10.1038/gim.2017.117 Full Text Fragile X testing as a second-tier test Taila Hartley, Ryan Potter, Lauren Badalato, Amanda C Smith, Olga Jarinova and Kym M Boycott Genet Med 2017 19: ; advance online publication, September 14, 2017; 10.1038/gim.2017.147 Full Text Is it time to retire fragile X testing as a first-tier test for developmental delay, intellectual disability, and autism spectrum disorder? Sureni V Mullegama, Steven D Klein, Dzung C Nguyen, Arang Kim, Rebecca Signer, Michelle Fox, Naghmeh Dorrani, Andrea Hendershot, Rebecca Mardach, Robert Suddath, Katrina Dipple, Eric Vilain, Derek A Wong, Joshua L Deignan, Stephen D. Cederbaum, Wayne W Grody and Julian A Martinez-Agosto Genet Med 2017 19: ; advance online publication, September 21, 2017; 10.1038/gim.2017.146 Full Text Response to Hartley et al. and Mullegama et al. Pranoot Tanpaiboon and Kimberly A Chapman Genet Med 2017 19: ; advance online publication, September 21, 2017; 10.1038/gim.2017.148 Full Text Podcast Top Podcast FREE Podcast 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 other enquiries, please contact our customer feedback department. 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