European Journal of Human Genetics - Table of Contents alert Volume 22 Issue 4

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TABLE OF CONTENTS Volume 22, Issue 4 (April 2014) In this issue Policy Letters Articles Short Reports Clinical Utility Gene Cards Clinical Utility Gene Card Updates Also new AOP Sign up for e-alerts Recommend to your library Web feed Subscribe Advertisement Benefits of publishing the European Journal of Human Genetics  - Online submission - reducing publication times  - Comprehensive peer review by renowned editorial team  - Open access publication option  - Inclusion in the leading abstracting and indexing services  - High visibility for your research  Submit your research using our online submission site  Policy Top Incidental findings: the time is not yet ripe for a policy for biobanks Jennifer Viberg, Mats G Hansson, Sophie Langenskiöld and Pär Segerdahl Eur J Hum Genet 2014 22: 437-441; advance online publication, September 25, 2013; 10.1038/ejhg.2013.217 Abstract | Full Text Letters Top Looking for CDKN1C enhancers Flavia Cerrato, Agostina De Crescenzo and Andrea Riccio Eur J Hum Genet 2014 22: 442-443; advance online publication, October 16, 2013; 10.1038/ejhg.2013.234 Full Text Congenital disorders of glycosylation: other causes of ichthyosis Jaak Jaeken, Daisy Rymen and Gert Matthijs Eur J Hum Genet 2014 22: 444; advance online publication, July 31, 2013; 10.1038/ejhg.2013.168 Full Text Articles Top Factors influencing public participation in biobanking Mamoun Ahram, Areej Othman, Manal Shahrouri and Ebtihal Mustafa Eur J Hum Genet 2014 22: 445-451; advance online publication, August 7, 2013; 10.1038/ejhg.2013.174 Abstract | Full Text Consanguineous marriage and reproductive risk: attitudes and understanding of ethnic groups practising consanguinity in Western societyEJHGOPEN Marieke E Teeuw, Ghariba Loukili, Edien AC Bartels, Leo P ten Kate, Martina C Cornel and Lidewij Henneman Eur J Hum Genet 2014 22: 452-457; advance online publication, August 7, 2013; 10.1038/ejhg.2013.167 Abstract | Full Text Expansion of a 12-kb VNTR containing the REXO1L1 gene cluster underlies the microscopically visible euchromatic variant of 8q21.2 Christine Tyson, Andrew J Sharp, Monica Hrynchak, Siu L Yong, Edward J Hollox, Peter Warburton and John CK Barber Eur J Hum Genet 2014 22: 458-463; advance online publication, September 18, 2013; 10.1038/ejhg.2013.185 Abstract | Full Text Deletions involving genes WHSC1 and LETM1 may be necessary, but are not sufficient to cause Wolf–Hirschhorn Syndrome Erica F Andersen, John C Carey, Dawn L Earl, Deyanira Corzo, Michael Suttie, Peter Hammond and Sarah T South Eur J Hum Genet 2014 22: 464-470; advance online publication, August 21, 2013; 10.1038/ejhg.2013.192 Abstract | Full Text Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes Martine Doco-Fenzy, Camille Leroy, Anouck Schneider, Florence Petit, Marie-Ange Delrue, Joris Andrieux, Laurence Perrin-Sabourin, Emilie Landais, Azzedine Aboura, Jacques Puechberty, Manon Girard, Magali Tournaire, Elodie Sanchez, Caroline Rooryck, Agnès Ameil, Michel Goossens, Philippe Jonveaux, Geneviève Lefort, Laurence Taine, Dorothée Cailley, Dominique Gaillard, Bruno Leheup, Pierre Sarda and David Geneviève Eur J Hum Genet 2014 22: 471-479; advance online publication, October 16, 2013; 10.1038/ejhg.2013.189 Abstract | Full Text A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy Arjan PM de Brouwer, Sander B Nabuurs, Ingrid EC Verhaart, Astrid R Oudakker, Roel Hordijk, Helger G Yntema, Jannet M Hordijk-Hos, Krysta Voesenek, Bert BA de Vries, Ton van Essen, Wei Chen, Hao Hu, Jamel Chelly, Johan T den Dunnen, Vera M Kalscheuer, Annemieke M Aartsma-Rus, Ben CJ Hamel, Hans van Bokhoven and Tjitske Kleefstra Eur J Hum Genet 2014 22: 480-485; advance online publication, July 31, 2013; 10.1038/ejhg.2013.169 Abstract | Full Text Novel cardiovascular findings in association with a POMT2 mutation: three siblings with α-dystroglycanopathy Hugo R Martinez, William J Craigen, Monika Ummat, Adekunle M Adesina, Timothy E Lotze and John L Jefferies Eur J Hum Genet 2014 22: 486-491; advance online publication, September 4, 2013; 10.1038/ejhg.2013.165 Abstract | Full Text Sequestosome-1 (SQSTM1) sequence variants in ALS cases in the UK: prevalence and coexistence of SQSTM1 mutations in ALS kindred with PDB Chun T Kwok, Alex Morris and Jacqueline S de Belleroche Eur J Hum Genet 2014 22: 492-496; advance online publication, August 14, 2013; 10.1038/ejhg.2013.184 Abstract | Full Text New TRPM6 missense mutations linked to hypomagnesemia with secondary hypocalcemia Sergio Lainez, Karl Peter Schlingmann, Jenny van der Wijst, Bernd Dworniczak, Femke van Zeeland, Martin Konrad, René J Bindels and Joost G Hoenderop Eur J Hum Genet 2014 22: 497-504; advance online publication, August 14, 2013; 10.1038/ejhg.2013.178 Abstract | Full Text A novel locus for episodic ataxia:UBR4 the likely candidate Judith Conroy, Paul McGettigan, Raymond Murphy, David Webb, Sinéad M Murphy, Blathnaid McCoy, Christine Albertyn, Dara McCreary, Cara McDonagh, Orla Walsh, SallyAnn Lynch and Sean Ennis Eur J Hum Genet 2014 22: 505-510; advance online publication, August 28, 2013; 10.1038/ejhg.2013.173 Abstract | Full Text Functional analysis of 11 novel GBA alleles Erika Malini, Serena Grossi, Marta Deganuto, Camillo Rosano, Rossella Parini, Silvia Dominisini, Roberta Cariati, Stefania Zampieri, Bruno Bembi, Mirella Filocamo and Andrea Dardis Eur J Hum Genet 2014 22: 511-516; advance online publication, September 11, 2013; 10.1038/ejhg.2013.182 Abstract | Full Text Occipital horn syndrome and classical Menkes Syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon Saiqa Yasmeen, Katrine Lund, Anne De Paepe, Sylvia De Bie, Arvid Heiberg, João Silva, Márcia Martins, Tina Skjørringe and Lisbeth B Møller Eur J Hum Genet 2014 22: 517-521; advance online publication, September 4, 2013; 10.1038/ejhg.2013.191 Abstract | Full Text Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot–Marie–Tooth neuropathy and a mutation in HSPB1 Emil Ylikallio, Mridul Johari, Svetlana Konovalova, Jukka S Moilanen, Sari Kiuru-Enari, Mari Auranen, Leila Pajunen and Henna Tyynismaa Eur J Hum Genet 2014 22: 522-527; advance online publication, August 21, 2013; 10.1038/ejhg.2013.190 Abstract | Full Text Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing Daniel Trujillano, Belén Perez, Justo González, Cristian Tornador, Rosa Navarrete, Georgia Escaramis, Stephan Ossowski, Lluís Armengol, Verónica Cornejo, Lourdes R Desviat, Magdalena Ugarte and Xavier Estivill Eur J Hum Genet 2014 22: 528-534; advance online publication, August 14, 2013; 10.1038/ejhg.2013.175 Abstract | Full Text Streamlined ion torrent PGM-based diagnostics: BRCA1 and BRCA2 genes as a model Julien Tarabeux, Bruno Zeitouni, Virginie Moncoutier, Henrique Tenreiro, Khadija Abidallah, Séverine Lair, Patricia Legoix-Né, Quentin Leroy, Etienne Rouleau, Lisa Golmard, Emmanuel Barillot, Marc-Henri Stern, Thomas Rio-Frio, Dominique Stoppa-Lyonnet and Claude Houdayer Eur J Hum Genet 2014 22: 535-541; advance online publication, August 14, 2013; 10.1038/ejhg.2013.181 Abstract | Full Text Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort Cécile Rouzier, Annabelle Chaussenot, Valérie Serre, Konstantina Fragaki, Sylvie Bannwarth, Samira Ait-El-Mkadem, Shahram Attarian, Elsa Kaphan, Aline Cano, Emilien Delmont, Sabrina Sacconi, Bénédicte Mousson de Camaret, Marlène Rio, Anne-Sophie Lebre, Claude Jardel, Romain Deschamps, Christian Richelme, Jean Pouget, Brigitte Chabrol and Véronique Paquis-Flucklinger Eur J Hum Genet 2014 22: 542-550; advance online publication, August 7, 2013; 10.1038/ejhg.2013.171 Abstract | Full Text Haplotype structure and positive selection at TLR1 Christopher Heffelfinger, Andrew J Pakstis, William C Speed, Allison P Clark, Eva Haigh, Rixun Fang, Mahohar R Furtado, Kenneth K Kidd and Michael P Snyder Eur J Hum Genet 2014 22: 551-557; advance online publication, September 4, 2013; 10.1038/ejhg.2013.194 Abstract | Full Text Variants at IRX4 as prostate cancer expression quantitative trait loci Xing Xu, Wasay M Hussain, Joseph Vijai, Kenneth Offit, Mark A Rubin, Francesca Demichelis and Robert J Klein Eur J Hum Genet 2014 22: 558-563; advance online publication, September 11, 2013; 10.1038/ejhg.2013.195 Abstract | Full Text Short Reports Top Germ-line deletion in DICER1 revealed by a novel MLPA assay using synthetic oligonucleotides Nelly Sabbaghian, Archana Srivastava, Nancy Hamel, François Plourde, Malgorzata Gajtko-Metera, Marek Niedziela and William D Foulkes Eur J Hum Genet 2014 22: 564-567; advance online publication, September 25, 2013; 10.1038/ejhg.2013.215 Abstract | Full Text Fine mapping genetic determinants of the highly variably expressed MHC gene ZFP57EJHGOPEN Katharine Plant, Benjamin P Fairfax, Seiko Makino, Claire Vandiedonck, Jayachandran Radhakrishnan and Julian C Knight Eur J Hum Genet 2014 22: 568-571; advance online publication, November 6, 2013; 10.1038/ejhg.2013.244 Abstract | Full Text Clinical Utility Gene Cards Top Clinical utility gene card for: Progressive familial intrahepatic cholestasis type 2 Emmanuel Gonzales, Anne Spraul and Emmanuel Jacquemin Eur J Hum Genet 2014 22: ; advance online publication, August 28, 2013; 10.1038/ejhg.2013.187 Full Text Clinical utility gene card for: Progressive familial intrahepatic cholestasis type 3 Emmanuel Gonzales, Anne Spraul and Emmanuel Jacquemin Eur J Hum Genet 2014 22: ; advance online publication, September 4, 2013; 10.1038/ejhg.2013.188 Full Text Clinical utility gene card for: Progressive familial intrahepatic cholestasis type 1 Emmanuel Gonzales, Anne Spraul and Emmanuel Jacquemin Eur J Hum Genet 2014 22: ; advance online publication, August 28, 2013; 10.1038/ejhg.2013.186 Full Text Clinical utility gene card for: Choroideremia Mariya Moosajee, Simon C Ramsden, Graeme CM Black, Miguel C Seabra and Andrew R Webster Eur J Hum Genet 2014 22: ; advance online publication, August 21, 2013; 10.1038/ejhg.2013.183 Full Text Clinical utility gene card for: von Hippel–Lindau (VHL) Jochen Decker, Christine Neuhaus, Fiona Macdonald, Hiltrud Brauch and Eamonn R Maher Eur J Hum Genet 2014 22: ; advance online publication, August 28, 2013; 10.1038/ejhg.2013.180 Full Text Clinical Utility Gene Card Updates Top Clinical utility gene card for: Hypophosphatasia – update 2013 Etienne Mornet, Christine Hofmann, Agnès Bloch-Zupan, Hermann Girschick and Martine Le Merrer Eur J Hum Genet 2014 22: ; advance online publication, August 7, 2013; 10.1038/ejhg.2013.177 Full Text Clinical Utility Gene Card for: 3-M syndrome - Update 2013 Muriel Holder-Espinasse, Melita Irving and Valérie Cormier-Daire Eur J Hum Genet 2014 22: ; advance online publication, July 31, 2013; 10.1038/ejhg.2013.156 Full Text Natureevents is a fully searchable, multi-disciplinary database designed to maximise exposure for events organisers. 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