European Journal of Human Genetics - Table of Contents alert Volume 22 Issue 3

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A systematic review of ethical reflections on incidental findings arising in genetics contexts   Population studies: return of research results and incidental findings Policy Statement  Review Top Atrial fibrillation: the role of common and rare genetic variants Morten S Olesen, Morten W Nielsen, Stig Haunsø and Jesper H Svendsen Eur J Hum Genet 2014 22: 297-306; advance online publication, July 10, 2013; 10.1038/ejhg.2013.139 Abstract | Full Text Letter Top Does germ-line deletion of the PIP gene constitute a widespread risk for cancer? Amanda G Silva, Ana CV Krepischi, Giovana T Torrezan, Leonardo P Capelli, Dirce M Carraro, Carla S D'Angelo, Celia P Koiffmann, Mayana Zatz, Michel S Naslavsky, Cibele Masotti, Paulo A Otto, Maria IW Achatz, Ryan E Mills, Charles Lee, Peter L Pearson and Carla Rosenberg Eur J Hum Genet 2014 22: 307-309; advance online publication, June 19, 2013; 10.1038/ejhg.2013.134 Full Text Articles Top Sustained effects of online genetics education: a randomized controlled trial on oncogeneticsEJHGOPEN Elisa JF Houwink, Sarah R van Teeffelen, Arno MM Muijtjens, Lidewij Henneman, Florijn Jacobi, Scheltus J van Luijk, Geert Jan Dinant, Cees van der Vleuten and Martina C Cornel Eur J Hum Genet 2014 22: 310-316; advance online publication, August 14, 2013; 10.1038/ejhg.2013.163 Abstract | Full Text Data sharing in large research consortia: experiences and recommendations from ENGAGEEJHGOPEN Isabelle Budin-Ljøsne, Julia Isaeva, Bartha Maria Knoppers, Anne Marie Tassé, Huei-yi Shen, Mark I McCarthy, ENGAGE Consortium and Jennifer R Harris Eur J Hum Genet 2014 22: 317-321; advance online publication, June 19, 2013; 10.1038/ejhg.2013.131 Abstract | Full Text The Moroccan Genetic Disease Database (MGDD): a database for DNA variations related to inherited disorders and disease susceptibility Hicham Charoute, Halima Nahili, Omar Abidi, Khalid Gabi, Hassan Rouba, Malika Fakiri and Abdelhamid Barakat Eur J Hum Genet 2014 22: 322-326; advance online publication, July 17, 2013; 10.1038/ejhg.2013.151 Abstract | Full Text Dysmorphology at a distance: results of a web-based diagnostic service S Douzgou, J Clayton-Smith, S Gardner, R Day, P Griffiths, K Strong and the DYSCERNE expert panel:  J Amiel, M Baraitser, L Brueton, H Brunner, K Chrzanowska, B Dallapiccola, M del Campo Casanelles, K Devriendt, D Donnai, D Fitzpatrick, G Gillessen-Kaesbach, G Houge, B Kerr, M Krajewska-Walasek, D Lacombe, P Meinecke, K Metcalfe, G Mortier, S Odent, N Philip, T Prescott, A Raas-Rothschild, A Rauch, O Rittinger, R Salonen, C Schrander-Stumpel, M Suri, K Temple, J Tolmie, I Van Der Burgt, A Verloes, D Wieczorek and M Zenker Eur J Hum Genet 2014 22: 327-332; advance online publication, July 10, 2013; 10.1038/ejhg.2013.137 Abstract | Full Text A homozygous 237-kb deletion at 1p31 identified as the locus for midline cleft of the upper and lower lip in a consanguineous family Yeşerin Yıldırım, Metin Kerem, Çiğdem Köroğlu and Aslıhan Tolun Eur J Hum Genet 2014 22: 333-337; advance online publication, July 17, 2013; 10.1038/ejhg.2013.138 Abstract | Full Text The strength of combined cytogenetic and mate-pair sequencing techniques illustrated by a germline chromothripsis rearrangement involving FOXP2EJHGOPEN Lusine Nazaryan, Eunice G Stefanou, Claus Hansen, Nadezda Kosyakova, Mads Bak, Freddie H Sharkey, Theodora Mantziou, Anastasios D Papanastasiou, Voula Velissariou, Thomas Liehr, Maria Syrrou and Niels Tommerup Eur J Hum Genet 2014 22: 338-343; advance online publication, July 17, 2013; 10.1038/ejhg.2013.147 Abstract | Full Text Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation Shery Thomas, Mervyn G Thomas, Caroline Andrews, Wai-Man Chan, Frank A Proudlock, Rebecca J McLean, Archana Pradeep, Elizabeth C Engle and Irene Gottlob Eur J Hum Genet 2014 22: 344-349; advance online publication, August 14, 2013; 10.1038/ejhg.2013.162 Abstract | Full Text Genetic analysis of the role of Alx4 in the coordination of lower body and external genitalia formationEJHGOPEN Daisuke Matsumaru, Ryuma Haraguchi, Anne M Moon, Yoshihiko Satoh, Naomi Nakagata, Ken-ichi Yamamura, Naoki Takahashi, Sohei Kitazawa and Gen Yamada Eur J Hum Genet 2014 22: 350-357; advance online publication, August 14, 2013; 10.1038/ejhg.2013.160 Abstract | Full Text THEMIS and PTPRK in celiac intestinal mucosa: coexpression in disease and after in vitro gliadin challenge Constanza Bondar, Leticia Plaza-Izurieta, Nora Fernandez-Jimenez, Iñaki Irastorza, Sebo Withoff, CEGEC, Cisca Wijmenga, Fernando Chirdo and Jose Ramon Bilbao Eur J Hum Genet 2014 22: 358-362; advance online publication, July 3, 2013; 10.1038/ejhg.2013.136 Abstract | Full Text AP1S2 is mutated in X-linked Dandy–Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome) Pierre Cacciagli, Jean-Pierre Desvignes, Nadine Girard, Marc Delepine, Diana Zelenika, Mark Lathrop, Nicolas Lévy, David H Ledbetter, William B Dobyns and Laurent Villard Eur J Hum Genet 2014 22: 363-368; advance online publication, June 12, 2013; 10.1038/ejhg.2013.135 Abstract | Full Text An unusual clinical severity of 16p11.2 deletion syndrome caused by unmasked recessive mutation of CLN3 Céline Pebrel-Richard, Anne Debost-Legrand, Eléonore Eymard-Pierre, Victoria Greze, Stéphan Kemeny, Mathilde Gay-Bellile, Laetitia Gouas, Andreï Tchirkov, Philippe Vago, Carole Goumy and Christine Francannet Eur J Hum Genet 2014 22: 369-373; advance online publication, July 17, 2013; 10.1038/ejhg.2013.141 Abstract | Full Text Autosomal recessive Adams–Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase Idan Cohen, Eldad Silberstein, Yonatan Perez, Daniella Landau, Khalil Elbedour, Yshaia Langer, Rotem Kadir, Michael Volodarsky, Sara Sivan, Ginat Narkis and Ohad S Birk Eur J Hum Genet 2014 22: 374-378; advance online publication, July 17, 2013; 10.1038/ejhg.2013.159 Abstract | Full Text An efficient method for long-term room temperature storage of RNA Anne-Lise Fabre, Marthe Colotte, Aurélie Luis, Sophie Tuffet and Jacques Bonnet Eur J Hum Genet 2014 22: 379-385; advance online publication, July 17, 2013; 10.1038/ejhg.2013.145 Abstract | Full Text Genome-wide estimates of inbreeding in unrelated individuals and their association with cognitive ability Robert A Power, Craig Nagoshi, John C DeFries, Wellcome Trust Case Control Consortium 2 and Robert Plomin Eur J Hum Genet 2014 22: 386-390; advance online publication, July 17, 2013; 10.1038/ejhg.2013.155 Abstract | Full Text Testing personalized medicine: patient and physician expectations of next-generation genomic sequencing in late-stage cancer care Fiona A Miller, Robin Z Hayeems, Jessica P Bytautas, Philippe L Bedard, Scott Ernst, Hal Hirte, Sebastien Hotte, Amit Oza, Albiruni Razak, Stephen Welch, Eric Winquist, Janet Dancey and Lillian L Siu Eur J Hum Genet 2014 22: 391-395; advance online publication, July 17, 2013; 10.1038/ejhg.2013.158 Abstract | Full Text Experiences of predictive testing in young people at risk of Huntington’s disease, familial cardiomyopathy or hereditary breast and ovarian cancer Rhona MacLeod, Anna Beach, Sasha Henriques, Jasmin Knopp, Katie Nelson and Lauren Kerzin-Storrar Eur J Hum Genet 2014 22: 396-401; advance online publication, July 17, 2013; 10.1038/ejhg.2013.143 Abstract | Full Text A systematic review of cancer GWAS and candidate gene meta-analyses reveals limited overlap but similar effect sizes Christine Q Chang, Ajay Yesupriya, Jessica L Rowell, Camilla B Pimentel, Melinda Clyne, Marta Gwinn, Muin J Khoury, Anja Wulf and Sheri D Schully Eur J Hum Genet 2014 22: 402-408; advance online publication, July 24, 2013; 10.1038/ejhg.2013.161 Abstract | Full Text Expansive marker analysis replicating the association of glaucoma susceptibility with human chromosome loci 1q43 and 10p12.31 Kyunglan Kim, Dong Won Heo, Sewon Kim, Jong-Sung Kim, Chang-sik Kim and Changwon Kang Eur J Hum Genet 2014 22: 409-413; advance online publication, July 10, 2013; 10.1038/ejhg.2013.149 Abstract | Full Text Correction for multiple testing in a gene region Audrey E Hendricks, Josée Dupuis, Mark W Logue, Richard H Myers and Kathryn L Lunetta Eur J Hum Genet 2014 22: 414-418; advance online publication, July 10, 2013; 10.1038/ejhg.2013.144 Abstract | Full Text Short Reports Top A missense mutation in ALDH1A3 causes isolated microphthalmia/anophthalmia in nine individuals from an inbred Muslim kindred Adi Mory, Francesc X Ruiz, Efrat Dagan, Evgenia A Yakovtseva, Alina Kurolap, Xavier Parés, Jaume Farrés and Ruth Gershoni-Baruch Eur J Hum Genet 2014 22: 419-422; advance online publication, July 24, 2013; 10.1038/ejhg.2013.157 Abstract | Full Text A novel AXIN2 germline variant associated with attenuated FAP without signs of oligondontia or ectodermal dysplasia B Rivera, J Perea, E Sánchez, M Villapún, E Sánchez-Tomé, F Mercadillo, M Robledo, J Benítez and M Urioste Eur J Hum Genet 2014 22: 423-426; advance online publication, July 10, 2013; 10.1038/ejhg.2013.146 Abstract | Full Text Meta-analysis of SNPs involved in variance heterogeneity using Levene’s test for equal variances Wei Q Deng, Senay Asma and Guillaume Paré Eur J Hum Genet 2014 22: 427-430; advance online publication, August 7, 2013; 10.1038/ejhg.2013.166 Abstract | Full Text Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders Alžběta Vondráčková, Kateřina Veselá, Hana Kratochvílová, Vendula Kučerová Vidrová, Kamila Vinšová, Viktor Stránecký, Tomáš Honzík, Hana Hansíková, Jiří Zeman and Markéta Tesařová Eur J Hum Genet 2014 22: 431-434; advance online publication, July 10, 2013; 10.1038/ejhg.2013.148 Abstract | Full Text Clinical Utility Gene Cards Top Clinical utility gene card for: Beckwith–Wiedemann Syndrome Thomas Eggermann, Elizabeth Algar, Pablo Lapunzina, Deborah Mackay, Eamonn R Maher, Marcel Mannens, Irène Netchine, Dirk Prawitt, Andrea Riccio, I Karen Temple and Rosanna Weksberg Eur J Hum Genet 2014 22: ; advance online publication, July 3, 2013; 10.1038/ejhg.2013.132 Full Text Clinical utility gene card for: Vici syndrome Thomas Cullup, Carlo Dionisi-Vici, Ay L Kho, Shu Yau, Shehla Mohammed, Mathias Gautel and Heinz Jungbluth Eur J Hum Genet 2014 22: ; advance online publication, July 10, 2013; 10.1038/ejhg.2013.142 Full Text Clinical utility gene card for: Alagille Syndrome (ALGS) Laura D Leonard, Grace Chao, Alastair Baker, Kathleen Loomes and Nancy B Spinner Eur J Hum Genet 2014 22: ; advance online publication, July 24, 2013; 10.1038/ejhg.2013.140 Full Text Natureevents is a fully searchable, multi-disciplinary database designed to maximise exposure for events organisers. 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