Genetics in Medicine contents: Volume 16, Issue 1

If you are unable to see the message below, click here to view.

TABLE OF CONTENTS Volume 16, Issue 1 (January 2014) In this issue Research Highlights Original Research Article ACMG Standards and Guidelines Corrigendum Research Highlights Top In This Issue Genet Med 2014 16: 1; 10.1038/gim.2013.195 Full Text News Briefs Genet Med 2014 16: 1-2; 10.1038/gim.2013.200 Full Text Original Research Articles Top Endoscopic evaluation of gastrointestinal tract in patients with hereditary hemorrhagic telangiectasia and correlation with their genotypes Cecilia Canzonieri, Laura Centenara, Federica Ornati, Fabio Pagella, Elina Matti, Costanza Alvisi, Cesare Danesino, Maurizio Perego and Carla Olivieri Genet Med 2014 16: 3-10; advance online publication, May 30, 2013; 10.1038/gim.2013.62 Abstract | Full Text Public preferences regarding informed consent models for participation in population-based genomic research Jodyn Platt, Juli Bollinger, Rachel Dvoskin, Sharon L.R. Kardia and David Kaufman Genet Med 2014 16: 11-18; advance online publication, May 9, 2013; 10.1038/gim.2013.59 Abstract | Full Text Population-based estimates of the prevalence of FMR1 expansion mutations in women with early menopause and primary ovarian insufficiency OPEN Anna Murray, Minouk J. Schoemaker, Claire E. Bennett, Sarah Ennis, James N. Macpherson, Michael Jones, Danielle H. Morris, Nick Orr, Alan Ashworth, Patricia A. Jacobs and Anthony J. Swerdlow Genet Med 2014 16: 19-24; advance online publication, May 23, 2013; 10.1038/gim.2013.64 Abstract | Full Text Three-year experience of a CAP/ACMG methods-based external proficiency testing program for laboratories offering DNA sequencing for rare inherited disorders C. Sue Richards, Glenn E. Palomaki, Felicitas L. Lacbawan, Elaine Lyon and Gerald L. Feldman ; on behalf of the CAP/ACMG Biochemical and Molecular Genetics Resource Committee Genet Med 2014 16: 25-32; advance online publication, May 23, 2013; 10.1038/gim.2013.65 Abstract | Full Text The use of US health insurance data for surveillance of rare disorders: hereditary hemorrhagic telangiectasia Scott D. Grosse, Sheree L. Boulet, Althea M. Grant, Mary M. Hulihan and Marie E. Faughnan Genet Med 2014 16: 33-39; advance online publication, May 23, 2013; 10.1038/gim.2013.66 Abstract | Full Text Neonatal hypocalcemia, neonatal seizures, and intellectual disability in 22q11.2 deletion syndrome Evelyn Ning Man Cheung, Susan R. George, Danielle M. Andrade, Eva W.C. Chow, Candice K. Silversides and Anne S. Bassett Genet Med 2014 16: 40-44; advance online publication, June 13, 2013; 10.1038/gim.2013.71 Abstract | Full Text Effectiveness of oncogenetics training on general practitioners’ consultation skills: a randomized controlled trial OPEN Elisa J.F. Houwink, Arno M.M. Muijtjens, Sarah R. van Teeffelen, Lidewij Henneman, Jan Joost Rethans, Liesbeth E.J. van der Jagt, Scheltus J. van Luijk, Geert Jan Dinant, Cees van der Vleuten and Martina C. Cornel Genet Med 2014 16: 45-52; advance online publication, May 30, 2013; 10.1038/gim.2013.69 Abstract | Full Text Single-nucleotide polymorphism array genotyping is equivalent to metaphase cytogenetics for diagnosis of Turner syndrome Siddharth Prakash, Dongchuan Guo, Cheryl L. Maslen, Michael Silberbach, Dianna Milewicz and Carolyn A. Bondy and the GenTAC Investigators Genet Med 2014 16: 53-59; advance online publication, June 6, 2013; 10.1038/gim.2013.77 Abstract | Full Text A cancer genetics toolkit improves access to genetic services through documentation and use of the family history by primary-care clinicians Maren T. Scheuner, Alison B. Hamilton, Jane Peredo, Taylor J. Sale, Colletta Austin, Stuart C. Gilman, M. Scott Bowen, Caroline Lubick Goldzweig, Martin Lee, Brian S. Mittman and Elizabeth M. Yano Genet Med 2014 16: 60-69; advance online publication, June 13, 2013; 10.1038/gim.2013.75 Abstract | Full Text Diagnostic yield of array comparative genomic hybridization in adults with autism spectrum disorders Gary Stobbe, Yajuan Liu, Rebecca Wu, Laura Heath Hudgings, Owen Thompson and Fuki M. Hisama Genet Med 2014 16: 70-77; advance online publication, June 13, 2013; 10.1038/gim.2013.78 Abstract | Full Text Parents’ interest in whole-genome sequencing of newborns Aaron J. Goldenberg, Daniel S. Dodson, Matthew M. Davis and Beth A. Tarini Genet Med 2014 16: 78-84; advance online publication, June 6, 2013; 10.1038/gim.2013.76 Abstract | Full Text Variations in predicted risks in personal genome testing for common complex diseases Rachel R.J. Kalf, Raluca Mihaescu, Suman Kundu, Peter de Knijff, Robert C. Green and A. Cecile J.W. Janssens Genet Med 2014 16: 85-91; advance online publication, June 27, 2013; 10.1038/gim.2013.80 Abstract | Full Text The recurrent distal 22q11.2 microdeletions are often de novo and do not represent a single clinical entity: a proposed categorization system Fady M. Mikhail, Rachel D. Burnside, Brooke Rush, Jennifer Ibrahim, Robin Godshalk, S. Lane Rutledge, Nathaniel H. Robin, Maria D. Descartes and Andrew J. Carroll Genet Med 2014 16: 92-100; advance online publication, June 13, 2013; 10.1038/gim.2013.79 Abstract | Full Text ACMG Standards and Guidelines Top ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis) Madhuri Hegde, Mathew Ferber, Rong Mao, Wade Samowitz, Arupa Ganguly and ; a Working Group of the American College of Medical Genetics and Genomics (ACMG) Laboratory Quality Assurance Committee:  Genet Med 2014 16: 101-116; advance online publication, December 5, 2013; 10.1038/gim.2013.166 Abstract | Full Text Corrigendum Top Corrigendum: Single-nucleotide polymorphism array genotyping is equivalent to metaphase cytogenetics for diagnosis of Turner syndrome Genet Med 2014 16: 117; 10.1038/gim.2013.180 Full Text Podcast Top 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. Nature Publishing Group | 75 Varick Street, 9th Floor | New York | NY 10013-1917 | USA Nature Publishing Group'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 Brunel Road, Houndmills, Basingstoke, Hampshire RG21 6XS. © 2014 Nature Publishing Group, a division of Macmillan Publishers Limited. All Rights Reserved.