Genetics in Medicine contents: Volume 20, Issue 1

TABLE OF CONTENTS Volume 20, Issue 1 (January 2018) In this issue Research Highlights ACMG Standards and Guidelines Commentary Original Research Articles Brief Report Erratum Corrigendum Podcast Sign in for free ACMG member access Facebook Twitter Subscribe Recommend to your library RSS ACMG Research Highlights In This Issue Genet Med 2018 20: 1; 10.1038/gim.2017.237 Full Text News Briefs Genet Med 2018 20: 2; 10.1038/gim.2017.248 Full Text ACMG Standards and Guidelines Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG) Marzia Pasquali, Chunli Yu and Bradford Coffee on behalf of the ACMG Laboratory Quality Assurance Committee Genet Med 2018 20: 3-11; advance online publication, October 26, 2017; 10.1038/gim.2017.172 Abstract | Full Text Commentary Happy birthday, Genetics in Medicine! James P Evans Genet Med 2018 20: 12-13; advance online publication, December 7, 2017; 10.1038/gim.2017.205 Full Text Original Research Articles In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristics OPEN Karin Weiss, Paul Kruszka, Maria J Guillen Sacoto, Yonit A Addissie, Donald W Hadley, Casey K Hadsall, Bethany Stokes, Ping Hu, Erich Roessler, Beth Solomon, Edythe Wiggs, Audrey Thurm, Robert B Hufnagel, Wadih M Zein, Jin S Hahn, Elaine Stashinko, Eric Levey, Debbie Baldwin, Nancy J Clegg, Mauricio R Delgado and Maximilian Muenke Genet Med 2018 20: 14-23; advance online publication, June 22, 2017; 10.1038/gim.2017.68 Abstract | Full Text Survival trends from the Prader–Willi Syndrome Association (USA) 40-year mortality survey Ann M Manzardo, James Loker, Janalee Heinemann, Carolyn Loker and Merlin G Butler Genet Med 2018 20: 24-30; advance online publication, July 6, 2017; 10.1038/gim.2017.92 Abstract | Full Text Genomic diagnostics within a medically underserved population: efficacy and implications Kevin A Strauss, Claudia Gonzaga-Jauregui, Karlla W Brigatti, Katie B Williams, Alejandra K King, Cristopher Van Hout, Donna L Robinson, Millie Young, Kavita Praveen, Adam D Heaps, Mindy Kuebler, Aris Baras, Jeffrey G Reid, John D Overton, Frederick E Dewey, Robert N Jinks, Ian Finnegan, Scott J Mellis, Alan R Shuldiner and Erik G Puffenberger Genet Med 2018 20: 31-41; advance online publication, July 20, 2017; 10.1038/gim.2017.76 Abstract | Full Text A cohort of 17 patients with kyphoscoliotic Ehlers–Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history OPEN Cecilia Giunta, Matthias Baumann, Christine Fauth, Uschi Lindert, Ebtesam M Abdalla, Angela F Brady, James Collins, Jahannaz Dastgir, Sandra Donkervoort, Neeti Ghali, Diana S Johnson, Ariana Kariminejad, Johannes Koch, Marius Kraenzlin, Nayana Lahiri, Bernarda Lozic, Adnan Y Manzur, Jenny E V Morton, Jacek Pilch, Rebecca C Pollitt, Gudrun Schreiber, Nora L Shannon, Glenda Sobey, Anthony Vandersteen, Fleur S van Dijk, Martina Witsch-Baumgartner, Johannes Zschocke, F Michael Pope, Carsten G Bönnemann and Marianne Rohrbach Genet Med 2018 20: 42-54; advance online publication, June 15, 2017; 10.1038/gim.2017.70 Abstract | Full Text Systematic design and comparison of expanded carrier screening panels OPEN Kyle A Beauchamp, Dale Muzzey, Kenny K Wong, Gregory J Hogan, Kambiz Karimi, Sophie I Candille, Nikita Mehta, Rebecca Mar-Heyming, K Eerik Kaseniit, H Peter Kang, Eric A Evans, James D Goldberg, Gabriel A Lazarin and Imran S Haque Genet Med 2018 20: 55-63; advance online publication, June 22, 2017; 10.1038/gim.2017.69 Abstract | Full Text GWAS signals revisited using human knockouts Sateesh Maddirevula, Fatema AlZahrani, Shams Anazi, Mariam Almureikhi, Tawfeg Ben-Omran, Ghada M H Abdel-Salam, Mais Hashem, Niema Ibrahim, Firdous M Abdulwahab, Neama Meriki, Fahad A Bashiri, Meow-Keong Thong, Premala Muthukumarasamy, Rifhan Azwani Mazlan, Ranad Shaheen and Fowzan S Alkuraya Genet Med 2018 20: 64-68; advance online publication, June 22, 2017; 10.1038/gim.2017.78 Abstract | Full Text Genetic testing impacts the utility of prospective familial screening in hypertrophic cardiomyopathy through identification of a nonfamilial subgroup Carol Ko, Patricia Arscott, Maryann Concannon, Sara Saberi, Sharlene M Day, Beverly M Yashar and Adam S Helms Genet Med 2018 20: 69-75; advance online publication, June 22, 2017; 10.1038/gim.2017.79 Abstract | Full Text Broad consent for health care–embedded biobanking: understanding and reasons to donate in a large patient sample Gesine Richter, Michael Krawczak, Wolfgang Lieb, Lena Wolff, Stefan Schreiber and Alena Buyx Genet Med 2018 20: 76-82; advance online publication, June 22, 2017; 10.1038/gim.2017.82 Abstract | Full Text CAP/ACMG proficiency testing for biochemical genetics laboratories: a summary of performance OPEN Devin Oglesbee, Tina M Cowan, Marzia Pasquali, Timothy C Wood, Karen E Weck, Thomas Long and Glenn E Palomaki Genet Med 2018 20: 83-90; advance online publication, June 29, 2017; 10.1038/gim.2017.61 Abstract | Full Text Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature Alfonso Hisado-Oliva, Alba Ruzafa-Martin, Lucia Sentchordi, Mariana F A Funari, Carolina Bezanilla-López, Marta Alonso-Bernáldez, Jimena Barraza-García, Maria Rodriguez-Zabala, Antonio M Lerario, Sara Benito-Sanz, Miriam Aza-Carmona, Angel Campos-Barros, Alexander A L Jorge and Karen E Heath Genet Med 2018 20: 91-97; advance online publication, June 28, 2017; 10.1038/gim.2017.66 Abstract | Full Text FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants Diana Mitter, Milka Pringsheim, Marc Kaulisch, Kim Sarah Plümacher, Simone Schröder, Rita Warthemann, Rami Abou Jamra, Martina Baethmann, Thomas Bast, Hans-Martin Büttel, Julie S Cohen, Elizabeth Conover, Carolina Courage, Angelika Eger, Ali Fatemi, Theresa A Grebe, Natalie S Hauser, Wolfram Heinritz, Katherine L Helbig, Marion Heruth, Dagmar Huhle, Karen Höft, Stephanie Karch, Gerhard Kluger, G Christoph Korenke, Johannes R Lemke, Richard E Lutz, Steffi Patzer, Isabelle Prehl, Konstanze Hoertnagel, Keri Ramsey, Tina Rating, Angelika Rieß, Luis Rohena, Mareike Schimmel, Rachel Westman, Frank-Martin Zech, Barbara Zoll, Dörthe Malzahn, Birgit Zirn and Knut Brockmann Genet Med 2018 20: 98-108; advance online publication, June 29, 2017; 10.1038/gim.2017.75 Abstract | Full Text PREPL deficiency: delineation of the phenotype and development of a functional blood assay Luc Régal, Emma Mårtensson, Isabelle Maystadt, Nicol Voermans, Damien Lederer, Alberto Burlina, María Jesús Juan Fita, A Jeannette M Hoogeboom, Mia Olsson Engman, Tess Hollemans, Meyke Schouten, Sandra Meulemans, Tord Jonson, Inge François, David Gil Ortega, Erik-Jan Kamsteeg and John W M Creemers Genet Med 2018 20: 109-118; advance online publication, July 20, 2017; 10.1038/gim.2017.74 Abstract | Full Text Prevalence of germ-line mutations in cancer genes among pancreatic cancer patients with a positive family history Kari G Chaffee, Ann L Oberg, Robert R McWilliams, Neil Majithia, Brian A Allen, John Kidd, Nanda Singh, Anne-Renee Hartman, Richard J Wenstrup and Gloria M Petersen Genet Med 2018 20: 119-127; advance online publication, July 20, 2017; 10.1038/gim.2017.85 Abstract | Full Text When genotype is not predictive of phenotype: implications for genetic counseling based on 21,594 chromosomal microarray analysis examinations Idit Maya, Reuven Sharony, Shiri Yacobson, Sarit Kahana, Josepha Yeshaya, Tamar Tenne, Ifaat Agmon-Fishman, Lital Cohen-Vig, Yael Goldberg, Racheli Berger, Lina Basel-Salmon and Mordechai Shohat Genet Med 2018 20: 128-131; advance online publication, July 20, 2017; 10.1038/gim.2017.89 Abstract | Full Text A randomized controlled trial of disclosing genetic risk information for Alzheimer disease via telephone Kurt D Christensen, Wendy R Uhlmann, J Scott Roberts, Erin Linnenbringer, Peter J Whitehouse, Charmaine D M Royal, Thomas O Obisesan, L Adrienne Cupples, Melissa B Butson, Grace-Ann Fasaye, Susan Hiraki, Clara A Chen, Uwe Siebert, Robert Cook-Deegan and Robert C Green for the REVEAL Study Group Genet Med 2018 20: 132-141; advance online publication, July 20, 2017; 10.1038/gim.2017.103 Abstract | Full Text A patient with germ-line gain-of-function PDGFRB p.N666H mutation and marked clinical response to imatinib Dinel Pond, Florence A Arts, Nancy J Mendelsohn, Jean-Baptiste Demoulin, Gunter Scharer and Yoav Messinger Genet Med 2018 20: 142-150; advance online publication, July 20, 2017; 10.1038/gim.2017.104 Abstract | Full Text Knowledge base and mini-expert platform for the diagnosis of inborn errors of metabolism OPEN Jessica J Y Lee, Wyeth W Wasserman, Georg F Hoffmann, Clara D M van Karnebeek and Nenad Blau Genet Med 2018 20: 151-158; advance online publication, July 20, 2017; 10.1038/gim.2017.108 Abstract | Full Text Brief Report Long-read genome sequencing identifies causal structural variation in a Mendelian disease Jason D Merker, Aaron M Wenger, Tam Sneddon, Megan Grove, Zachary Zappala, Laure Fresard, Daryl Waggott, Sowmi Utiramerur, Yanli Hou, Kevin S Smith, Stephen B Montgomery, Matthew Wheeler, Jillian G Buchan, Christine C Lambert, Kevin S Eng, Luke Hickey, Jonas Korlach, James Ford and Euan A Ashley Genet Med 2018 20: 159-163; advance online publication, June 22, 2017; 10.1038/gim.2017.86 Abstract | Full Text Erratum Erratum: In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristics Karin Weiss, Paul Kruszka, Maria J Guillen Sacoto, Yonit A Addissie, Donald W Hadley, Casey K Hadssal, Bethany Stokes, Ping Hu, Ariel F Martinez, Erich Roessler, Beth Solomon, Edythe Wiggs, Audrey Thurm, Robert B Hufnagel, Wadih M Zein, Jin S Hahn, Elaine Stashinko, Eric Levey, Debbie Baldwin, Nancy J Clegg, Mauricio R Delgado and Maximilian Muenke Genet Med 2018 20: 164; 10.1038/gim.2017.183 Full Text Corrigendum Corrigendum: What are people willing to pay for whole-genome sequencing information, and who decides what they receive? Deborah A Marshall, Juan Marcos Gonzalez, F Reed Johnson, Karen V MacDonald, Amy Pugh, Michael P Douglas and Kathryn A Phillips Genet Med 2018 20: 165; advance online publication, October 26, 2017; 10.1038/gim.2017.184 Full Text Podcast 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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