European Journal of Human Genetics - Table of Contents alert Volume 24 Issue 5

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TABLE OF CONTENTS Volume 24, Issue 5 (May 2016) In this issue Letter Articles Short Report Clinical Utility Gene Card Clinical Utility Gene Card Update Corrigendum Also new AOP Sign up for e-alerts Recommend to your library Web feed Subscribe Advertisement Top cited papers from 2014 and 2015 The European Journal of Human Genetics is proud to publish a wide variety of articles in the blossoming field of human genetics and genomics. In this web focus we highlight the best cited articles published in 2014 and 2015, ten of each year. As you can now read for yourself, our readers cater for a broad and interesting mix of scientific, service- and societal issues, whilst also population genetics, biobanking and methods improvement can get you well-cited in EJHG. Access the web focus Letter Top Why do we pay for information that we won’t use? A cognitive-based explanation for genetic information seeking Alessandra Gorini and Gabriella Pravettoni Eur J Hum Genet 2016 24: 625; advance online publication, September 9, 2015; 10.1038/ejhg.2015.188 Full Text Articles Top Health professionals’ opinions on supporting a cancer biobank: identification of barriers to combat biobanking pitfalls Nicole J Caixeiro, Hei Lan Byun, Joseph Descallar, Janelle V Levesque, Paul de Souza and Cheok Soon Lee Eur J Hum Genet 2016 24: 626-632; advance online publication, September 2, 2015; 10.1038/ejhg.2015.191 Abstract | Full Text Mothers’ psychological adaptation to Duchenne/Becker muscular dystrophy Holly L Peay, Bettina Meiser, Kathleen Kinnett, Pat Furlong, Kathryn Porter and Aad Tibben Eur J Hum Genet 2016 24: 633-637; advance online publication, August 26, 2015; 10.1038/ejhg.2015.189 Abstract | Full Text Children with sex chromosome trisomies: parental disclosure of genetic status Nikki C Gratton, Jessica Myring, Prisca Middlemiss, Deborah Shears, Diana Wellesley, Sarah Wynn, Dorothy VM Bishop and Gaia Scerif Eur J Hum Genet 2016 24: 638-644; advance online publication, August 26, 2015; 10.1038/ejhg.2015.168 Abstract | Full Text Prenatal SNP array testing in 1000 fetuses with ultrasound anomalies: causative, unexpected and susceptibility CNVs Malgorzata I Srebniak, Karin EM Diderich, Marieke Joosten, Lutgarde CP Govaerts, Jeroen Knijnenburg, Femke AT de Vries, Marjan Boter, Debora Lont, Maarten FCM Knapen, Merel C de Wit, Attie TJI Go, Robert-Jan H Galjaard and Diane Van Opstal Eur J Hum Genet 2016 24: 645-651; advance online publication, September 2, 2015; 10.1038/ejhg.2015.193 Abstract | Full Text The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant David A Koolen, Rolph Pfundt, Katrin Linda, Gea Beunders, Hermine E Veenstra-Knol, Jessie H Conta, Ana Maria Fortuna, Gabriele Gillessen-Kaesbach, Sarah Dugan, Sara Halbach, Omar A Abdul-Rahman, Heather M Winesett, Wendy K Chung, Marguerite Dalton, Petia S Dimova, Teresa Mattina, Katrina Prescott, Hui Z Zhang, Howard M Saal, Jayne Y Hehir-Kwa, Marjolein H Willemsen, Charlotte W Ockeloen, Marjolijn C Jongmans, Nathalie Van der Aa, Pinella Failla, Concetta Barone, Emanuela Avola, Alice S Brooks, Sarina G Kant, Erica H Gerkes, Helen V Firth, Katrin Õunap, Lynne M Bird, Diane Masser-Frye, Jennifer R Friedman, Modupe A Sokunbi, Abhijit Dixit, Miranda Splitt, DDD Study, Mary K Kukolich, Julie McGaughran, Bradley P Coe, Jesús Flórez, Nael Nadif Kasri, Han G Brunner, Elizabeth M Thompson, Jozef Gecz, Corrado Romano, Evan E Eichler and Bert BA de Vries Eur J Hum Genet 2016 24: 652-659; advance online publication, August 26, 2015; 10.1038/ejhg.2015.178 Abstract | Full Text Novel genetic causes for cerebral visual impairment Daniëlle GM Bosch, F Nienke Boonstra, Nicole de Leeuw, Rolph Pfundt, Willy M Nillesen, Joep de Ligt, Christian Gilissen, Shalini Jhangiani, James R Lupski, Frans PM Cremers and Bert BA de Vries Eur J Hum Genet 2016 24: 660-665; advance online publication, September 9, 2015; 10.1038/ejhg.2015.186 Abstract | Full Text D117N in Cypher/ZASP may not be a causative mutation for dilated cardiomyopathy and ventricular arrhythmias Aviva Levitas, Yuval Konstantino, Emad Muhammad, Zaid Afawi, Jean Marc Weinstein, Guy Amit, Yoram Etzion and Ruti Parvari Eur J Hum Genet 2016 24: 666-671; advance online publication, September 30, 2015; 10.1038/ejhg.2015.195 Abstract | Full Text Rare FOXC1 variants in congenital glaucoma: identification of translation regulatory sequences Cristina Medina-Trillo, José-Daniel Aroca-Aguilar, Carmen-Dora Méndez-Hernández, Laura Morales, Maite García-Antón, Julián García-Feijoo and Julio Escribano Eur J Hum Genet 2016 24: 672-680; advance online publication, July 29, 2015; 10.1038/ejhg.2015.169 Abstract | Full Text Reinitiation of mRNA translation in a patient with X-linked infantile spasms with a protein-truncating variant in ARX Ching Moey, Scott Topper, Mary Karn, Amy Knight Johnson, Soma Das, Jorge Vidaurre and Cheryl Shoubridge Eur J Hum Genet 2016 24: 681-689; advance online publication, August 26, 2015; 10.1038/ejhg.2015.176 Abstract | Full Text The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome Sarah Joyce, Kristiana Gordon, Glen Brice, Pia Ostergaard, Rani Nagaraja, John Short, Sandra Moore, Peter Mortimer and Sahar Mansour Eur J Hum Genet 2016 24: 690-696; advance online publication, August 5, 2015; 10.1038/ejhg.2015.175 Abstract | Full Text Defining the role of the CGGBP1 protein in FMR1 gene expression Martina Goracci, Stella Lanni, Giorgia Mancano, Federica Palumbo, Pietro Chiurazzi, Giovanni Neri and Elisabetta Tabolacci Eur J Hum Genet 2016 24: 697-703; advance online publication, August 26, 2015; 10.1038/ejhg.2015.182 Abstract | Full Text Genetic and biochemical study of dual hereditary jaundice: Dubin–Johnson and Gilbert’s syndromes. Haplotyping and founder effect of deletion in ABCC2 Lenka Slachtova, Ondrej Seda, Jana Behunova, Martin Mistrik and Pavel Martasek Eur J Hum Genet 2016 24: 704-709; advance online publication, September 9, 2015; 10.1038/ejhg.2015.181 Abstract | Full Text Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons Gaël Nicolas, David Wallon, Camille Charbonnier, Olivier Quenez, Stéphane Rousseau, Anne-Claire Richard, Anne Rovelet-Lecrux, Sophie Coutant, Kilan Le Guennec, Delphine Bacq, Jean-Guillaume Garnier, Robert Olaso, Anne Boland, Vincent Meyer, Jean-François Deleuze, Hans Markus Munter, Guillaume Bourque, Daniel Auld, Alexandre Montpetit, Mark Lathrop, Lucie Guyant-Maréchal, Olivier Martinaud, Jérémie Pariente, Adeline Rollin-Sillaire, Florence Pasquier, Isabelle Le Ber, Marie Sarazin, Bernard Croisile, Claire Boutoleau-Bretonnière, Catherine Thomas-Antérion, Claire Paquet, Mathilde Sauvée, Olivier Moreaud, Audrey Gabelle, François Sellal, Mathieu Ceccaldi, Ludivine Chamard, Frédéric Blanc, Thierry Frebourg, Dominique Campion and Didier Hannequin Eur J Hum Genet 2016 24: 710-716; advance online publication, August 5, 2015; 10.1038/ejhg.2015.173 Abstract | Full Text Search for new loci and low-frequency variants influencing glioma risk by exome-array analysisEJHGOPEN Ben Kinnersley, Yoichiro Kamatani, Marianne Labussière, Yufei Wang, Pilar Galan, Karima Mokhtari, Jean-Yves Delattre, Konstantinos Gousias, Johannes Schramm, Minouk J Schoemaker, Anthony Swerdlow, Sarah J Fleming, Stefan Herms, Stefanie Heilmann, Markus M Nöthen, Matthias Simon, Marc Sanson, Mark Lathrop and Richard S Houlston Eur J Hum Genet 2016 24: 717-724; advance online publication, August 12, 2015; 10.1038/ejhg.2015.170 Abstract | Full Text A minimum set of ancestry informative markers for determining admixture proportions in a mixed American population: the Brazilian set Hadassa C Santos, Andréa V R Horimoto, Eduardo Tarazona-Santos, Fernanda Rodrigues-Soares, Mauricio L Barreto, Bernardo L Horta, Maria F Lima-Costa, Mateus H Gouveia, Moara Machado, Thiago M Silva, José M Sanches, Nubia Esteban, Wagner CS Magalhaes, Maíra R Rodrigues, Fernanda S G Kehdy and Alexandre C Pereira The Brazilian EPIGEN Project Consortium Eur J Hum Genet 2016 24: 725-731; advance online publication, September 23, 2015; 10.1038/ejhg.2015.187 Abstract | Full Text Plakophilin-2 c.419C>T and risk of heart failure and arrhythmias in the general population Alex Hørby Christensen, Pia Rørbœk Kamstrup, Estelle Gandjbakhch, Marianne Benn, Jan Skov Jensen, Henning Bundgaard, Eric Villard and Anne Tybjærg-Hansen Eur J Hum Genet 2016 24: 732-738; advance online publication, August 12, 2015; 10.1038/ejhg.2015.171 Abstract | Full Text The more the merrier? How a few SNPs predict pigmentation phenotypes in the Northern German population Amke Caliebe, Melanie Harder, Rebecca Schuett, Michael Krawczak, Almut Nebel and Nicole von Wurmb-Schwark Eur J Hum Genet 2016 24: 739-747; advance online publication, August 19, 2015; 10.1038/ejhg.2015.167 Abstract | Full Text No significant impact of IFN-γ pathway gene variants on tuberculosis susceptibility in a West African population Christian G Meyer, Christopher D Intemann, Birgit Förster, Ellis Owusu-Dabo, Andre Franke, Rolf D Horstmann and Thorsten Thye Eur J Hum Genet 2016 24: 748-755; advance online publication, August 5, 2015; 10.1038/ejhg.2015.172 Abstract | Full Text Variants in RBP4 and AR genes modulate age at onset in familial amyloid polyneuropathy (FAP ATTRV30M) Diana Santos, Teresa Coelho, Miguel Alves-Ferreira, Jorge Sequeiros, Denisa Mendonça, Isabel Alonso, Carolina Lemos and Alda Sousa Eur J Hum Genet 2016 24: 756-760; advance online publication, August 19, 2015; 10.1038/ejhg.2015.180 Abstract | Full Text FAPI: Fast and accurate P-value Imputation for genome-wide association study Johnny SH Kwan, Miao-Xin Li, Jia-En Deng and Pak C Sham Eur J Hum Genet 2016 24: 761-766; advance online publication, August 26, 2015; 10.1038/ejhg.2015.190 Abstract | Full Text A general approach for combining diverse rare variant association tests provides improved robustness across a wider range of genetic architectures Brian Greco, Allison Hainline, Jaron Arbet, Kelsey Grinde, Alejandra Benitez and Nathan Tintle Eur J Hum Genet 2016 24: 767-773; advance online publication, October 28, 2015; 10.1038/ejhg.2015.194 Abstract | Full Text Short Report Top The C175R mutation alters nuclear localization and transcriptional activity of the nephronophthisis NPHP7 gene productEJHGOPEN Haribaskar Ramachandran, Toma A Yakulov, Christina Engel, Barbara Müller and Gerd Walz Eur J Hum Genet 2016 24: 774-778; advance online publication, September 16, 2015; 10.1038/ejhg.2015.199 Abstract | Full Text Clinical Utility Gene Card Top CUGC for hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) Sébastien Küry, Sandra Mercier, Gasnat Shaboodien, Thomas Besnard, Sébastien Barbarot, Nonhlanhla P Khumalo, Bongani M Mayosi and Stéphane Bézieau Eur J Hum Genet 2016 24: ; advance online publication, October 7, 2015; 10.1038/ejhg.2015.205 Full Text Clinical Utility Gene Card Update Top Clinical utility gene card for: acrodermatitis enteropathica – update 2015 Sébastien Küry, Monia Kharfi, Eric Blouin, Sébastien Schmitt and Stéphane Bézieau Eur J Hum Genet 2016 24: ; advance online publication, October 7, 2015; 10.1038/ejhg.2015.203 Full Text Corrigendum Top Clinical and ultrastructural spectrum of diffuse lung disease associated with surfactant protein C mutations Donatella Peca, Renata Boldrini, Jan Johannson, Joseph T Shieh, Arianna Citti, Stefania Petrini, Teresa Salerno, Salvatore Cazzato, Raffaele Testa, Francesco Messina, Alfredo Onofri, Giovanna Cenacchi, Per Westermark, Nicola Ullmann, Paola Cogo, Renato Cutrera and Olivier Danhaive Eur J Hum Genet 2016 24: 780; 10.1038/ejhg.2016.12 Full Text Natureevents is a fully searchable, multi-disciplinary database designed to maximise exposure for events organisers. 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