Genetics in Medicine contents: Volume 19, Issue 1

TABLE OF CONTENTS Volume 19, Issue 1 (January 2017) In this issue Research Highlights Commentary Original Research Article Special Article Reviewers 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: 1; 10.1038/gim.2016.201 Full Text News Briefs Genet Med 2017 19: 1-2; 10.1038/gim.2016.205 Full Text Commentary Top Exploring the importance of case-level clinical information for variant interpretation Jonathan S. Berg Genet Med 2017 19: 3-5; advance online publication, August 25, 2016; 10.1038/gim.2016.106 Full Text Original Research Article Top Newborn genetic screening for hearing impairment: a population-based longitudinal study Chen-Chi Wu, Ching-Hui Tsai, Chia-Cheng Hung, Yin-Hung Lin, Yi-Hsin Lin, Fang-Li Huang, Po-Nien Tsao, Yi-Ning Su, Yungling Leo Lee, Wu-Shiun Hsieh and Chuan-Jen Hsu Genet Med 2017 19: 6-12; advance online publication, June 16, 2016; 10.1038/gim.2016.66 Abstract | Full Text Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2 Samin A. Sajan, Shalini N. Jhangiani, Donna M. Muzny, Richard A. Gibbs, James R. Lupski, Daniel G. Glaze, Walter E. Kaufmann, Steven A. Skinner, Fran Annese, Michael J. Friez, Jane Lane, Alan K. Percy and Jeffrey L. Neul Genet Med 2017 19: 13-19; advance online publication, May 12, 2016; 10.1038/gim.2016.42 Abstract | Full Text Rare genetic variants in cellular transporters, metabolic enzymes, and nuclear receptors can be important determinants of interindividual differences in drug response Mikael Kozyra, Magnus Ingelman-Sundberg and Volker M. Lauschke Genet Med 2017 19: 20-29; advance online publication, April 21, 2016; 10.1038/gim.2016.33 Abstract | Full Text Breast cancer risk prediction using a polygenic risk score in the familial setting: a prospective study from the Breast Cancer Family Registry and kConFab Hongyan Li, Bingjian Feng, Alexander Miron, Xiaoqing Chen, Jonathan Beesley, Emmanuella Bimeh, Daniel Barrowdale, Esther M. John, Mary B. Daly, Irene L. Andrulis, Saundra S. Buys, Peter Kraft, kConFab investigators, Heather Thorne, Georgia Chenevix-Trench, Melissa C. Southey, Antonis C. Antoniou, Paul A. James, Mary Beth Terry, Kelly-Anne Phillips, John L. Hopper, Gillian Mitchell and David E. Goldgar Genet Med 2017 19: 30-35; advance online publication, May 12, 2016; 10.1038/gim.2016.43 Abstract | Full Text Cystic fibrosis newborn screening programs: implications of the CFTR variant spectrum in nonwhite patients Lynn Pique, Steve Graham, Michelle Pearl, Martin Kharrazi and Iris Schrijver Genet Med 2017 19: 36-44; advance online publication, May 5, 2016; 10.1038/gim.2016.48 Abstract | Full Text The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families Michael D. Fountain, Emmelien Aten, Megan T. Cho, Jane Juusola, Magdalena A. Walkiewicz, Joseph W. Ray, Fan Xia, Yaping Yang, Brett H. Graham, Carlos A. Bacino, Lorraine Potocki, Arie van Haeringen, Claudia A.L. Ruivenkamp, Pedro Mancias, Hope Northrup, Mary K. Kukolich, Marjan M. Weiss, Conny M.A. van Ravenswaaij-Arts, Inge B. Mathijssen, Sebastien Levesque, Naomi Meeks, Jill A. Rosenfeld, Danielle Lemke, Ada Hamosh, Suzanne K. Lewis, Simone Race, Laura L. Stewart, Beverly Hay, Andrea M. Lewis, Rita L. Guerreiro, Jose T. Bras, Marcia P. Martins, Gerarda Derksen-Lubsen, Els Peeters, Connie Stumpel, Sander Stegmann, Levinus A. Bok, Gijs W.E. Santen and Christian P. Schaaf Genet Med 2017 19: 45-52; advance online publication, May 19, 2016; 10.1038/gim.2016.53 Abstract | Full Text Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression Chelsea Lowther, Marsha Speevak, Christine M. Armour, Elaine S. Goh, Gail E. Graham, Chumei Li, Susan Zeesman, Malgorzata J.M. Nowaczyk, Lee-Anne Schultz, Antonella Morra, Rob Nicolson, Peter Bikangaga, Dawa Samdup, Mostafa Zaazou, Kerry Boyd, Jack H. Jung, Victoria Siu, Manjulata Rajguru, Sharan Goobie, Mark A. Tarnopolsky, Chitra Prasad, Paul T. Dick, Asmaa S. Hussain, Margreet Walinga, Renske G. Reijenga, Matthew Gazzellone, Anath C. Lionel, Christian R. Marshall, Stephen W. Scherer, Dimitri J. Stavropoulos, Elizabeth McCready and Anne S. Bassett Genet Med 2017 19: 53-61; advance online publication, May 19, 2016; 10.1038/gim.2016.54 Abstract | Full Text Tracheal cartilaginous sleeves in children with syndromic craniosynostosis Tara L. Wenger, John Dahl, Elizabeth J. Bhoj, Anna Rosen, Donna McDonald-McGinn, Elaine Zackai, Ian Jacobs, Carrie L. Heike, Anne Hing, Avni Santani, Andrew F. Inglis, Kathleen C.Y. Sie, Michael Cunningham and Jonathan Perkins Genet Med 2017 19: 62-68; advance online publication, May 26, 2016; 10.1038/gim.2016.60 Abstract | Full Text Prediction of CYP2D6 phenotype from genotype across world populations OPEN Andrea Gaedigk, Katrin Sangkuhl, Michelle Whirl-Carrillo, Teri Klein and J. Steven Leeder Genet Med 2017 19: 69-76; advance online publication, July 7, 2016; 10.1038/gim.2016.80 Abstract | Full Text Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing Alekhya Narravula, Kathryn B. Garber, S. Hussain Askree, Madhuri Hegde and Patricia L. Hall Genet Med 2017 19: 77-82; advance online publication, June 16, 2016; 10.1038/gim.2016.67 Abstract | Full Text Comprehensive genetic analysis of pregnancy loss by chromosomal microarrays: outcomes, benefits, and challenges Trilochan Sahoo, Natasa Dzidic, Michelle N. Strecker, Sara Commander, Mary K. Travis, Charles Doherty, R. Weslie Tyson, Arturo E. Mendoza, Mary Stephenson, Craig A. Dise, Carlos W. Benito, Mandolin S. Ziadie and Karine Hovanes Genet Med 2017 19: 83-89; advance online publication, June 23, 2016; 10.1038/gim.2016.69 Abstract | Full Text Pompe disease in adulthood: effects of antibody formation on enzyme replacement therapy Juna M. de Vries, Esther Kuperus, Marianne Hoogeveen-Westerveld, Marian A. Kroos, Stephan C.A. Wens, Merel Stok, Nadine A.M.E. van der Beek, Michelle E. Kruijshaar, Dimitris Rizopoulos, Pieter A. van Doorn, Ans T. van der Ploeg and W.W.M. Pim Pijnappel Genet Med 2017 19: 90-97; advance online publication, June 30, 2016; 10.1038/gim.2016.70 Abstract | Full Text Engagement and communication among participants in the ClinSeq Genomic Sequencing Study Gillian W. Hooker, Kendall L. Umstead, Katie L. Lewis, Laura K. Koehly, Leslie G. Biesecker and Barbara B Biesecker Genet Med 2017 19: 98-103; advance online publication, October 20, 2016; 10.1038/gim.2016.71 Abstract | Full Text The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT Curtis R. Coughlin, II, Michael A. Swanson, Kathryn Kronquist, Cécile Acquaviva, Tim Hutchin, Pilar Rodríguez-Pombo, Marja-Leena Väisänen, Elaine Spector, Geralyn Creadon-Swindell, Ana M. Brás-Goldberg, Elisa Rahikkala, Jukka S. Moilanen, Vincent Mahieu, Gert Matthijs, Irene Bravo-Alonso, Celia Pérez-Cerdá, Magdalena Ugarte, Christine Vianey-Saban, Gunter H. Scharer and Johan L.K. Van Hove Genet Med 2017 19: 104-111; advance online publication, June 30, 2016; 10.1038/gim.2016.74 Abstract | Full Text Electronic health record interventions at the point of care improve documentation of care processes and decrease orders for genetic tests commonly ordered by nongeneticists Maren T. Scheuner, Jane Peredo, Kelly Tangney, Diane Schoeff, Taylor Sale, Caroline Lubick-Goldzweig, Alison Hamilton, Lee Hilborne, Martin Lee, Brian Mittman, Elizabeth M. Yano and Ira M. Lubin Genet Med 2017 19: 112-120; advance online publication, June 30, 2016; 10.1038/gim.2016.73 Abstract | Full Text Special Article Top Newborn screening for X-linked adrenoleukodystrophy: evidence summary and advisory committee recommendation Alex R. Kemper, Jeffrey Brosco, Anne Marie Comeau, Nancy S. Green, Scott D. Grosse, Elizabeth Jones, Jennifer M. Kwon, Wendy K.K. Lam, Jelili Ojodu, Lisa A. Prosser and Susan Tanksley Genet Med 2017 19: 121-126; advance online publication, June 23, 2016; 10.1038/gim.2016.68 Abstract | Full Text Reviewers Top Reviewer Acknowledgment 2016 Genet Med 2017 19: 127-128; 10.1038/gim.2016.184 Abstract | Full Text Corrigendum Top CORRIGENDUM: Low-pass whole-genome sequencing in clinical cytogenetics: a validated approach Genet Med 2017 19: 129; 10.1038/gim.2016.187 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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