Genetics in Medicine contents: Volume 19, Issue 9

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All rights reserved.   TABLE OF CONTENTS Volume 19, Issue 9 (September 2017) In this issue Commentary Research Highlights Invited Commentary Special Articles Original Research Articles Podcast Sign in for free ACMG member access Facebook Twitter Subscribe Recommend to your library RSS ACMG Commentary Top Report on the Banbury Summit Meeting on medical genetics training in the genomic era, 23–26 February 2014 OPEN Bruce R Korf, Miriam G Blitzer, Laurie A Demmer, Gerald L Feldman and Michael S Watson Genet Med 2017 19: ; advance online publication, April 27, 2017; 10.1038/gim.2017.38 Full Text Research Highlights Top In This Issue Genet Med 2017 19: 963; 10.1038/gim.2017.139 Full Text News Briefs Genet Med 2017 19: 964; 10.1038/gim.2017.140 Full Text Invited Commentary Top CDH1 germline mutations: different syndromes, same management? Patrick R Benusiglio Genet Med 2017 19: 965-966; advance online publication, April 20, 2017; 10.1038/gim.2017.24 Full Text Special Articles Top Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency OPEN Margaret M. McGovern, Carlo Dionisi-Vici, Roberto Giugliani, Paul Hwu, Olivier Lidove, Zoltan Lukacs, Karl Eugen Mengel, Pramod K. Mistry, Edward H. Schuchman and Melissa P. Wasserstein Genet Med 2017 19: 967-974; advance online publication, April 13, 2017; 10.1038/gim.2017.7 Abstract | Full Text Cognitive outcomes and age of detection of severe mucopolysaccharidosis type 1 Scott D. Grosse, Wendy K.K. Lam, Lisa D. Wiggins and Alex R. Kemper Genet Med 2017 19: 975-982; advance online publication, January 26, 2017; 10.1038/gim.2016.223 Abstract | Full Text Original Research Articles Top Quantitative clinical characteristics of 53 patients with MPS VII: a cross-sectional analysis Matthias Zielonka, Sven F. Garbade, Stefan Kölker, Georg F. Hoffmann and Markus Ries Genet Med 2017 19: 983-988; advance online publication, April 6, 2017; 10.1038/gim.2017.10 Abstract | Full Text Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing Paul Kuentz, Judith St-Onge, Yannis Duffourd, Jean-Benoît Courcet, Virginie Carmignac, Thibaud Jouan, Arthur Sorlin, Claire Abasq-Thomas, Juliette Albuisson, Jeanne Amiel, Daniel Amram, Stéphanie Arpin, Tania Attie-Bitach, Nadia Bahi-Buisson, Sébastien Barbarot, Geneviève Baujat, Didier Bessis, Olivia Boccara, Maryse Bonnière, Odile Boute, Anne-Claire Bursztejn, Christine Chiaverini, Valérie Cormier-Daire, Christine Coubes, Bruno Delobel, Patrick Edery, Salima El Chehadeh, Christine Francannet, David Geneviève, Alice Goldenberg, Damien Haye, Bertrand Isidor, Marie-Line Jacquemont, Philippe Khau Van Kien, Didier Lacombe, Ludovic Martin, Jelena Martinovic, Annabel Maruani, Michèle Mathieu-Dramard, Juliette Mazereeuw-Hautier, Caroline Michot, Cyril Mignot, Juliette Miquel, Fanny Morice-Picard, Florence Petit, Alice Phan, Massimiliano Rossi, Renaud Touraine, Alain Verloes, Marie Vincent, Catherine Vincent-Delorme, Sandra Whalen, Marjolaine Willems, Nathalie Marle, Daphné Lehalle, Julien Thevenon, Christel Thauvin-Robinet, Smaïl Hadj-Rabia, Laurence Faivre, Pierre Vabres and Jean-Baptiste Rivière Genet Med 2017 19: 989-997; advance online publication, February 2, 2017; 10.1038/gim.2016.220 Abstract | Full Text A familial study of azoospermic men identifies three novel causative mutations in three new human azoospermia genes Moran Gershoni, Ron Hauser, Leah Yogev, Ofer Lehavi, Foad Azem, Haim Yavetz, Shmuel Pietrokovski and Sandra E. Kleiman Genet Med 2017 19: 998-1006; advance online publication, February 16, 2017; 10.1038/gim.2016.225 Abstract | Full Text Genetic susceptibility to bilateral tinnitus in a Swedish twin cohort OPEN Iris Lianne Maas, Petra Brüggemann, Teresa Requena, Jan Bulla, Niklas K. Edvall, Jacob v.B. Hjelmborg, Agnieszka J. Szczepek, Barbara Canlon, Birgit Mazurek, Jose A. Lopez-Escamez and Christopher R. Cederroth Genet Med 2017 19: 1007-1012; advance online publication, March 23, 2017; 10.1038/gim.2017.4 Abstract | Full Text Blepharocheilodontic syndrome is a CDH1 pathway–related disorder due to mutations in CDH1 and CTNND1 Jamal Ghoumid, Morgane Stichelbout, Anne-Sophie Jourdain, Frederic Frenois, Sophie Lejeune-Dumoulin, Marie-Pierre Alex-Cordier, Marine Lebrun, Pierre Guerreschi, Veronique Duquennoy-Martinot, Matthieu Vinchon, Joel Ferri, Matthieu Jung, Serge Vicaire, Clemence Vanlerberghe, Fabienne Escande, Florence Petit and Sylvie Manouvrier-Hanu Genet Med 2017 19: 1013-1021; advance online publication, March 16, 2017; 10.1038/gim.2017.11 Abstract | Full Text Next-generation sequencing improves thalassemia carrier screening among premarital adults in a high prevalence population: the Dai nationality, China Jing He, Wenhui Song, Jinlong Yang, Sen Lu, Yuan Yuan, Junfu Guo, Jie Zhang, Kai Ye, Fan Yang, Fangfang Long, Zhiyu Peng, Haijing Yu, Le Cheng and Baosheng Zhu Genet Med 2017 19: 1022-1031; advance online publication, January 26, 2017; 10.1038/gim.2016.218 Abstract | Full Text Exploring the feasibility of delivering standardized genomic care using ophthalmology as an example Niall Davison, Katherine Payne, Martin Eden, Marion McAllister, Stephen A. Roberts, Stuart Ingram, Graeme C.M. Black and Georgina Hall Genet Med 2017 19: 1032-1039; advance online publication, March 16, 2017; 10.1038/gim.2017.9 Abstract | Full Text The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results Dustin Baldridge, Jennifer Heeley, Marisa Vineyard, Linda Manwaring, Tomi L. Toler, Emily Fassi, Elise Fiala, Sarah Brown, Charles W. Goss, Marcia Willing, Dorothy K. Grange, Beth A. Kozel and Marwan Shinawi Genet Med 2017 19: 1040-1048; advance online publication, March 2, 2017; 10.1038/gim.2016.224 Abstract | Full Text Promoting appropriate genetic testing: the impact of a combined test review and consultative service Carlos J. Suarez, Linbo Yu, Natalie Downs, Helio A. Costa and David A. Stevenson Genet Med 2017 19: 1049-1054; advance online publication, January 26, 2017; 10.1038/gim.2016.219 Abstract | Full Text A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology OPEN Lisenka E.L.M. Vissers, Kirsten J.M. van Nimwegen, Jolanda H. Schieving, Erik-Jan Kamsteeg, Tjitske Kleefstra, Helger G. Yntema, Rolph Pfundt, Gert Jan van der Wilt, Lotte Krabbenborg, Han G. Brunner, Simone van der Burg, Janneke Grutters, Joris A. Veltman and Michèl A.A.P. Willemsen Genet Med 2017 19: 1055-1063; advance online publication, March 23, 2017; 10.1038/gim.2017.1 Abstract | Full Text The psychosocial effects of the Li-Fraumeni Education and Early Detection (LEAD) program on individuals with Li-Fraumeni syndrome Jessica Ross, Jasmina Bojadzieva, Susan Peterson, Sarah Jane Noblin, Rebecca Yzquierdo, Martha Askins and Louise Strong Genet Med 2017 19: 1064-1070; advance online publication, March 16, 2017; 10.1038/gim.2017.8 Abstract | Full Text Prediction of breast cancer risk based on flow-variant analysis of circulating peripheral blood B cells Mahrukh M. Syeda, Kinnari Upadhyay, Johnny Loke, Alexander Pearlman, Susan Klugman, Yongzhao Shao and Harry Ostrer Genet Med 2017 19: 1071-1077; advance online publication, March 16, 2017; 10.1038/gim.2016.222 Abstract | 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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