Volume 19, Issue 6 (June 2017)


Research Highlights

In This Issue FREE

Genet Med 19: 607; doi:10.1038/gim.2017.72

News Briefs FREE

Genet Med 19: 608; doi:10.1038/gim.2017.73




Raffaella Origa MD, PhD

Genet Med 19: 609-619; advance online publication, November 3, 2016; doi:10.1038/gim.2016.173



Precision engagement: the PMI’s success will depend on more than genomes and big data

Jennifer K. Wagner JD, PhD, Cathryn Peltz-Rauchman PhD, Alanna Kulchak Rahm PhD, LGC and Christine C. Johnson PhD, MPH

Genet Med 19: 620-624; advance online publication, October 27, 2016; doi:10.1038/gim.2016.165

Managing sickle cell carrier results generated through newborn screening in Ontario: a precedent-setting policy story

Robin Z. Hayeems PhD, Charlotte Moore Hepburn MD, Pranesh Chakraborty MD, Isaac Odame MD, Joe Clarke MD, Fiona A. Miller PhD and Adalsteinn D. Brown PhD

Genet Med 19: 625-627; advance online publication, October 20, 2016; doi:10.1038/gim.2016.162


Original Research Articles

Population screening for BRCA1/BRCA2 mutations: lessons from qualitative analysis of the screening experience

Sari Lieberman MSc, Amnon Lahad MD, MPH, Ariela Tomer MSc, Carmit Cohen MHA, Ephrat Levy-Lahad MD and Aviad Raz PhD

Genet Med 19: 628-634; advance online publication, December 1, 2016; doi:10.1038/gim.2016.175

Causes of death in Prader-Willi syndrome: Prader-Willi Syndrome Association (USA) 40-year mortality survey

Merlin G. Butler MD, PhD, Ann M. Manzardo PhD, Janalee Heinemann MSW, Carolyn Loker and James Loker MD

Genet Med 19: 635-642; advance online publication, November 17, 2016; doi:10.1038/gim.2016.178

Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerations

Kinga M. Bujakowska, Rosario Fernandez-Godino, Emily Place, Mark Consugar, Daniel Navarro-Gomez, Joseph White, Emma C. Bedoukian, Xiaosong Zhu, Hongbo M. Xie, Xiaowu Gai, Bart P. Leroy and Eric A. Pierce

Genet Med 19: 643-651; advance online publication, October 13, 2016; doi:10.1038/gim.2016.158

Early manifestations of type 1 Gaucher disease in presymptomatic children diagnosed after parental carrier screening

Amy C. Yang MD, Louise Bier MS, Jessica R. Overbey MS, Jessica Cohen-Pfeffer MD, Khyati Desai MD, Robert J. Desnick PhD, MD and Manisha Balwani MD, MS

Genet Med 19: 652-658; advance online publication, October 13, 2016; doi:10.1038/gim.2016.159

Health screening behaviors among adults with hereditary hemorrhagic telangiectasia in North America

Melanie Baxter ScM, CGC, Lori Erby PhD, CGC, Debra Roter DrPH, Barbara A. Bernhardt MS, LCGC, Peter Terry MD and Alan Guttmacher MD

Genet Med 19: 659-666; advance online publication, October 13, 2016; doi:10.1038/gim.2016.161

Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders Open

Rolph Pfundt PhD, Marisol del Rosario BSc, Lisenka E.L.M. Vissers PhD, Michael P. Kwint BSc, Irene M. Janssen BSc, Nicole de Leeuw PhD, Helger G. Yntema PhD, Marcel R. Nelen PhD, Dorien Lugtenberg PhD, Erik-Jan Kamsteeg PhD, Nienke Wieskamp BSc, Alexander P.A. Stegmann PhD, Servi J.C. Stevens PhD, Richard J.T. Rodenburg PhD, Annet Simons PhD, Arjen R. Mensenkamp PhD, Tuula Rinne PhD, Christian Gilissen PhD, Hans Scheffer PhD, Joris A. Veltman Prof. Dr and Jayne Y. Hehir-Kwa PhD

Genet Med 19: 667-675; advance online publication, October 27, 2016; doi:10.1038/gim.2016.163

Evaluation of a Web-based decision aid for people considering the APOE genetic test for Alzheimer risk

Michael Ekstract BA, Golde I. Holtzman PhD, Kye Y. Kim MD, Susan M. Willis PhD and Doris T. Zallen PhD

Genet Med 19: 676-682; advance online publication, November 3, 2016; doi:10.1038/gim.2016.170

The cost of molecular-guided therapy in oncology: a prospective cost study alongside the MOSCATO trial

Arnaud Pagès PharmD, MSc, Stéphanie Foulon MD, MSc, Zhaomin Zou PhD, Ludovic Lacroix PharmD, PhD, François Lemare PharmD, PhD, Thierry de Baère MD, Christophe Massard MD, PhD, Jean-Charles Soria MD, PhD and Julia Bonastre PhD

Genet Med 19: 683-690; advance online publication, December 1, 2016; doi:10.1038/gim.2016.174

Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients Open

Livia Garavelli MD, Ivan Ivanovski MD, Stefano Giuseppe Caraffi PhD, Daniela Santodirocco MD, Marzia Pollazzon MD, Duccio Maria Cordelli MD, Ebtesam Abdalla MD, PhD, Patrizia Accorsi MD, Margaret P. Adam MD, FACMG, Chiara Baldo PhD, Allan Bayat MD, Elga Belligni MD, Federico Bonvicini MD, Jeroen Breckpot MD, Bert Callewaert MD, PhD, Guido Cocchi MD, Goran Cuturilo MD, Koenraad Devriendt MD, PhD, Mary Beth Dinulos MD, Olivera Djuric MD, MSc, Roberta Epifanio MD, Francesca Faravelli MD, MSc, Debora Formisano, Lucio Giordano MD, Marina Grasso PhD, Sabine Grønborg MD, Alessandro Iodice MD, Lorenzo Iughetti MD, PhD, Didier Lacombe MD, Massimo Maggi MD, Baris Malbora MD, Isabella Mammi MD, Sebastien Moutton MD, Rikke Møller MD, PhD, Petra Muschke MD, Manuela Napoli MD, Chiara Pantaleoni MD, Rosario Pascarella MD, Alessandro Pellicciari MD, Maria Luisa Poch-Olive MD, Federico Raviglione MD, Francesca Rivieri MD, Carmela Russo MD, Salvatore Savasta MD, Gioacchino Scarano MD, Angelo Selicorni MD, Margherita Silengo MD, Giovanni Sorge MD, Luigi Tarani MD, Luis Gonzaga Tone MD, Annick Toutain MD, Aurelien Trimouille MD, Elvis Terci Valera MD, Samantha Schrier Vergano MD, Nicoletta Zanotta MD, Marcella Zollino MD, William B Dobyns MD and Alex R Paciorkowski MD

Genet Med 19: 691-700; advance online publication, November 10, 2016; doi:10.1038/gim.2016.176

Microduplication of the ARID1A gene causes intellectual disability with recognizable syndromic features

Marie Bidart PharmD, PhD, Michèle El Atifi PhD, Sarra Miladi MS, John Rendu PharmD, PhD, Véronique Satre MD, PhD, Pierre F. Ray PhD, Caroline Bosson PharmD, Françoise Devillard MD, Daphné Lehalle MD, Valérie Malan MD, PhD, Jeanne Amiel MD, PhD, Maria Antonietta Mencarelli MD, PhD, Margherita Baldassarri MD, Alessandra Renieri MD, PhD, Jill Clayton-Smith MD, PhD, Gaëlle Vieville MS, Julien Thevenon MD, PhD, Florence Amblard MD, François Berger MD, PhD, Pierre-Simon Jouk MD, PhD and Charles Coutton PharmD, PhD

Genet Med 19: 701-710; advance online publication, December 1, 2016; doi:10.1038/gim.2016.180


Brief Reports

Ciliopathy variant burden and developmental delay in children with hypoplastic left heart syndrome

Gabrielle C Geddes MD, Karl Stamm MS, Michael Mitchell MD, Kathleen A Mussatto PhD, RN and Aoy Tomita-Mitchell PhD

Genet Med 19: 711-714; advance online publication, October 27, 2016; doi:10.1038/gim.2016.167

Phenotypic predictors and final diagnoses in patients referred for RASopathy testing by targeted next-generation sequencing

Elizabeth J. Bhoj MD, PhD, Zhenming Yu PhD, Qiaoning Guan PhD, Rebecca Ahrens-Nicklas MD, PhD, Kajia Cao PhD, Minjie Luo PhD, Tanya Tischler MS, Matthew A. Deardorff MD, PhD, Elaine Zackai MD and Avni B. Santani PhD

Genet Med 19: 715-718; advance online publication, October 20, 2016; doi:10.1038/gim.2016.169



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