Genetics in Medicine contents: Volume 18, Issue 12

Advertisement Could it be time for your patients to try RAVICTI® (glycerol phenylbutyrate) Oral Liquid? Visit ravicti.com to see what makes it unique.  RAVICTI is a registered trademark of Horizon Therapeutics, Inc. © 2016 Horizon Therapeutics, Inc. All rights reserved.   TABLE OF CONTENTS Volume 18, Issue 12 (December 2016) In this issue Research Highlights Systematic Review Review Commentary Original Research Article Brief Report Letter to the Editor Podcast Sign in for free ACMG member access Facebook Twitter Subscribe Recommend to your library RSS ACMG Advertisement Have you tried listening to the Genepod, the podcast from Genetics in Medicine? Hear direct from the experts, wherever you are and on whatever device. Past topics have included: Investigating the lower risk of solid tumors in Down Syndrome New and Old Quandaries in Newborn Screening Time and effort to practice medical genetics: an expanding challenge Listen to the Genepod and expand your genetics knowledge for free!    Research Highlights Top In This Issue Genet Med 2016 18: 1169; 10.1038/gim.2016.185 Full Text News Briefs Genet Med 2016 18: 1169-1170; 10.1038/gim.2016.188 Full Text Systematic Review Top Which BRCA genetic testing programs are ready for implementation in health care? A systematic review of economic evaluations OPEN Elvira D’Andrea, Carolina Marzuillo, Corrado De Vito, Marco Di Marco, Erica Pitini, Maria Rosaria Vacchio and Paolo Villari Genet Med 2016 18: 1171-1180; advance online publication, April 14, 2016; 10.1038/gim.2016.29 Abstract | Full Text Review Top Is it Fabry disease? Raphael Schiffmann, Maria Fuller, Lorne A. Clarke and Johannes M.F.G. Aerts Genet Med 2016 18: 1181-1185; advance online publication, May 19, 2016; 10.1038/gim.2016.55 Abstract | Full Text Commentary Top Designing babies through gene editing: science or science fiction? A. Cecile J.W. Janssens Genet Med 2016 18: 1186-1187; advance online publication, April 7, 2016; 10.1038/gim.2016.28 Full Text A panoramic view of the accuracy of molecular genetic testing Karen E. Weck and Iris Schrijver Genet Med 2016 18: 1188-1189; advance online publication, August 18, 2016; 10.1038/gim.2016.116 Abstract | Full Text Original Research Article Top Incorporating truncating variants in PALB2, CHEK2, and ATM into the BOADICEA breast cancer risk model Andrew J. Lee, Alex P. Cunningham, Marc Tischkowitz, Jacques Simard, Paul D. Pharoah, Douglas F. Easton and Antonis C. Antoniou Genet Med 2016 18: 1190-1198; advance online publication, April 14, 2016; 10.1038/gim.2016.31 Abstract | Full Text Parents’ experiences with requesting carrier testing for their unaffected children Danya F. Vears, Clare Delany, John Massie and Lynn Gillam Genet Med 2016 18: 1199-1205; advance online publication, March 24, 2016; 10.1038/gim.2016.24 Abstract | Full Text Highly accurate molecular genetic testing for HFE hereditary hemochromatosis: results from 10 years of blinded proficiency surveys by the College of American Pathologists Richard D. Press, Garrett Eickelberg, Thomas J. McDonald, Jaimie Halley, Thomas Long, Laura J. Tafe and Karen E. Weck ; for the CAP/ACMG Biochemical and Molecular Genetics Resource Committee Genet Med 2016 18: 1206-1213; advance online publication, April 28, 2016; 10.1038/gim.2016.34 Abstract | Full Text Carrier screening in the era of expanding genetic technology Aishwarya Arjunan, Karen Litwack, Nick Collins and Joel Charrow Genet Med 2016 18: 1214-1217; advance online publication, April 7, 2016; 10.1038/gim.2016.30 Abstract | Full Text Research participant interest in primary, secondary, and incidental genomic findings Jennifer T. Loud, Renee C. Bremer, Phuong L. Mai, June A. Peters, Neelam Giri, Douglas R. Stewart, Mark H. Greene, Blanche P. Alter and Sharon A. Savage Genet Med 2016 18: 1218-1225; advance online publication, April 21, 2016; 10.1038/gim.2016.36 Abstract | Full Text Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation Karim Kouz, Christina Lissewski, Stephanie Spranger, Diana Mitter, Angelika Riess, Vanesa Lopez-Gonzalez, Sabine Lüttgen, Hatip Aydin, Florian von Deimling, Christina Evers, Andreas Hahn, Maja Hempel, Ulrike Issa, Anne-Karin Kahlert, Adrian Lieb, Pablo Villavicencio-Lorini, Maria Juliana Ballesta-Martinez, Sheela Nampoothiri, Angela Ovens-Raeder, Alena Puchmajerová, Robin Satanovskij, Heide Seidel, Stephan Unkelbach, Bernhard Zabel, Kerstin Kutsche and Martin Zenker Genet Med 2016 18: 1226-1234; advance online publication, April 21, 2016; 10.1038/gim.2016.32 Abstract | Full Text Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York State Melissa P. Wasserstein, Mary Andriola, Georgianne Arnold, Alan Aron, Patricia Duffner, Richard W. Erbe, Maria L. Escolar, Lissette Estrella, Patricia Galvin-Parton, Alejandro Iglesias, Denise M. Kay, David F. Kronn, Joanne Kurtzberg, Jennifer M. Kwon, Thomas J. Langan, Paul A. Levy, Thomas P. Naidich, Joseph J. Orsini, Joan E. Pellegrino, James M. Provenzale, David A. Wenger and Michele Caggana ; and the New York State Krabbe Consortium Genet Med 2016 18: 1235-1243; advance online publication, May 12, 2016; 10.1038/gim.2016.35 Abstract | Full Text Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden Mohamed Abouelhoda, Turki Sobahy, Mohamed El-Kalioby, Nisha Patel, Hanan Shamseldin, Dorota Monies, Nada Al-Tassan, Khushnooda Ramzan, Faiqa Imtiaz, Ranad Shaheen and Fowzan S. Alkuraya Genet Med 2016 18: 1244-1249; advance online publication, April 28, 2016; 10.1038/gim.2016.37 Abstract | Full Text Comparative analysis of BRCA1 and BRCA2 variants of uncertain significance in patients with breast cancer: a multifactorial probability-based model versus ACMG standards and guidelines for interpreting sequence variants Kyung Sun Park, Eun Yoon Cho, Seok Jin Nam, Chang-Seok Ki and Jong-Won Kim Genet Med 2016 18: 1250-1257; advance online publication, April 28, 2016; 10.1038/gim.2016.39 Abstract | Full Text A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation OPEN Jessica Ezzell Hunter, Stephanie A. Irving, Leslie G. Biesecker, Adam Buchanan, Brian Jensen, Kristy Lee, Christa Lese Martin, Laura Milko, Kristin Muessig, Annie D. Niehaus, Julianne O’Daniel, Margaret A. Piper, Erin M. Ramos, Sheri D. Schully, Alan F. Scott, Anne Slavotinek, Nara Sobreira, Natasha Strande, Meredith Weaver, Elizabeth M. Webber, Marc S. Williams, Jonathan S. Berg, James P. Evans and Katrina A.B. Goddard ; on behalf of the ClinGen Resource Genet Med 2016 18: 1258-1268; advance online publication, April 28, 2016; 10.1038/gim.2016.40 Abstract | Full Text CADD score has limited clinical validity for the identification of pathogenic variants in noncoding regions in a hereditary cancer panel Cheryl A. Mather, Sean D. Mooney, Stephen J. Salipante, Sheena Scroggins, David Wu, Colin C. Pritchard and Brian H. Shirts Genet Med 2016 18: 1269-1275; advance online publication, May 5, 2016; 10.1038/gim.2016.44 Abstract | Full Text Inborn Errors of Metabolism Collaborative: large-scale collection of data on long-term follow-up for newborn-screened conditions Susan A. Berry, Nancy D. Leslie, Mathew J. Edick, Sally Hiner, Kaitlin Justice and Cynthia Cameron ; for the Inborn Errors of Metabolism Collaborative Genet Med 2016 18: 1276-1281; advance online publication, May 19, 2016; 10.1038/gim.2016.57 Abstract | Full Text Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing Diana Mandelker, Ryan J. Schmidt, Arunkanth Ankala, Kristin McDonald Gibson, Mark Bowser, Himanshu Sharma, Elizabeth Duffy, Madhuri Hegde, Avni Santani, Matthew Lebo and Birgit Funke Genet Med 2016 18: 1282-1289; advance online publication, May 26, 2016; 10.1038/gim.2016.58 Abstract | Full Text Results from an external proficiency testing program: 11 years of molecular genetics testing for myotonic dystrophy type 1 C. Sue Richards, Glenn E. Palomaki and Madhuri Hegde ; on behalf of the Biochemical and Molecular Genetics and Genomics Resource Committee, College of American Pathologists/American College of Medical Genetics and Genomics Genet Med 2016 18: 1290-1294; advance online publication, June 2, 2016; 10.1038/gim.2016.59 Abstract | Full Text 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 2016 18: 1295-1302; advance online publication, June 2, 2016; 10.1038/gim.2016.61 Abstract | Full Text Pharmacogenomic incidental findings in 308 families: The NIH Undiagnosed Diseases Program experience Elizabeth M.J. Lee, Karen Xu, Emma Mosbrook, Amanda Links, Jessica Guzman, David R. Adams, Elise Flynn, Elise Valkanas, Camillo Toro, Cynthia J. Tifft, Cornelius F. Boerkoel, William A. Gahl and Murat Sincan Genet Med 2016 18: 1303-1307; advance online publication, June 2, 2016; 10.1038/gim.2016.47 Abstract | Full Text Brief Report Top Family health history reporting is sensitive to small changes in wording Liam S. Conway-Pearson, Kurt D. Christensen, Sarah K. Savage, Noelle L. Huntington, Elissa R. Weitzman, Sonja I. Ziniel, Phoebe Bacon, Cara N. Cacioppo, Robert C. Green and Ingrid A. Holm Genet Med 2016 18: 1308-1311; advance online publication, May 5, 2016; 10.1038/gim.2016.45 Abstract | Full Text A knowledge base for tracking the impact of genomics on population health Wei Yu, Marta Gwinn, W. David Dotson, Ridgely Fisk Green, Mindy Clyne, Anja Wulf, Scott Bowen, Katherine Kolor and Muin J. Khoury Genet Med 2016 18: 1312-1314; advance online publication, June 9, 2016; 10.1038/gim.2016.63 Abstract | Full Text Morbidity and mortality among exclusively breastfed neonates with medium-chain acyl-CoA dehydrogenase deficiency Rebecca C. Ahrens-Nicklas, Louise C. Pyle and Can Ficicioglu Genet Med 2016 18: 1315-1319; advance online publication, May 5, 2016; 10.1038/gim.2016.49 Abstract | Full Text Letter to the Editor Top Congenital heart defects in Noonan syndrome and RIT1 mutation Giulio Calcagni, Anwar Baban, Francesca Romana Lepri, Bruno Marino, Marco Tartaglia and Maria Cristina Digilio Genet Med 2016 18: 1320; advance online publication, September 29, 2016; 10.1038/gim.2016.137 Full Text Response to Calgani et al. Martin Zenker and Kerstin Kutsche Genet Med 2016 18: 1321; advance online publication, September 29, 2016; 10.1038/gim.2016.138 Full Text Neonates at risk of medium-chain acyl-CoA dehydrogenase deficiency: a perinatal protocol for use before population neonatal screening test results become available Willemijn J. van Rijt, Emmalie A. Jager, Francjan J. van Spronsen, Tom de Koning, M. Rebecca Heiner-Fokkema and Terry G.J. Derks Genet Med 2016 18: 1322-1323; advance online publication, September 22, 2016; 10.1038/gim.2016.149 Full Text Response to van Rijt et al. Rebecca C. Ahrens-Nicklas, Louise C. Pyle and Can Ficicioglu Genet Med 2016 18: 1324; advance online publication, September 22, 2016; 10.1038/gim.2016.144 Full Text De novo mutations in autosomal recessive congenital malformations OPEN Holly A. Black, David Parry, Santosh S. Atanur, David Ross, Elaine Rose, Helen Russell, Sarah Stock, Jon Warner, Mary Porteous, Timothy J. Aitman and Margaret J. Evans Genet Med 2016 18: 1325-1326; advance online publication, June 9, 2016; 10.1038/gim.2016.62 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. 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