European Journal of Human Genetics - Table of Contents alert Volume 23 Issue 8

If you are unable to see the message below, click here to view.

TABLE OF CONTENTS Volume 23, Issue 8 (August 2015) In this issue Letters Articles Clinical Utility Gene Cards Corrigenda Also new AOP Sign up for e-alerts Recommend to your library Web feed Subscribe Letters Top On two Jewish clades in mitochondrial DNA Felice L Bedford and Doron Yacobi Eur J Hum Genet 2015 23: 993-994; advance online publication, November 5, 2014; 10.1038/ejhg.2014.231 Full Text Reply to letter from Felice L. Bedford and Doron Yacobi Inês Nogueiro, João Teixeira, António Amorim, Leonor Gusmão and Luis Alvarez Eur J Hum Genet 2015 23: 994-995; advance online publication, November 5, 2014; 10.1038/ejhg.2014.232 Full Text Articles Top A prospective cohort study assessing clinical referral management & workforce allocation within a UK regional medical genetics service Caroline Benjamin, Catherine Houghton, Claire Foo, Chris Edgar, Gail Mannion, Jan Birch, Ian Ellis and Astrid Weber Eur J Hum Genet 2015 23: 996-1003; advance online publication, March 11, 2015; 10.1038/ejhg.2015.33 Abstract | Full Text An easy test but a hard decision: ethical issues concerning non-invasive prenatal testing for autosomal recessive disorders Heather Skirton, Lesley Goldsmith and Lyn S Chitty Eur J Hum Genet 2015 23: 1004-1009; advance online publication, November 5, 2014; 10.1038/ejhg.2014.238 Abstract | Full Text Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1 Laïla El Khattabi, Fabien Guimiot, Eva Pipiras, Joris Andrieux, Clarisse Baumann, Sonia Bouquillon, Anne-Lise Delezoide, Bruno Delobel, Florence Demurger, Hélène Dessuant, Séverine Drunat, Christelle Dubourg, Céline Dupont, Laurence Faivre, Muriel Holder-Espinasse, Sylvie Jaillard, Hubert Journel, Stanislas Lyonnet, Valérie Malan, Alice Masurel, Nathalie Marle, Chantal Missirian, Alexandre Moerman, Anne Moncla, Sylvie Odent, Orazio Palumbo, Pietro Palumbo, Aimé Ravel, Serge Romana, Anne-Claude Tabet, Mylène Valduga, Marie Vermelle, Massimo Carella, Jean-Michel Dupont, Alain Verloes, Brigitte Benzacken and Andrée Delahaye Eur J Hum Genet 2015 23: 1010-1018; advance online publication, November 5, 2014; 10.1038/ejhg.2014.230 Abstract | Full Text Duplicated copy of CHRNA7 increases risk and worsens prognosis of COPD and lung cancer Lei Yang, Xiaoxiao Lu, Fuman Qiu, Wenxiang Fang, Lisha Zhang, Dongsheng Huang, Chenli Xie, Nanshan Zhong, Pixin Ran, Yifeng Zhou and Jiachun Lu Eur J Hum Genet 2015 23: 1019-1024; advance online publication, November 19, 2014; 10.1038/ejhg.2014.229 Abstract | Full Text Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3 Annalisa Vetro, Mohammad Reza Dehghani, Lilia Kraoua, Roberto Giorda, Silvana Beri, Laura Cardarelli, Maurizio Merico, Emmanouil Manolakos, Alexis Parada-Bustamante, Andrea Castro, Orietta Radi, Giovanna Camerino, Alfredo Brusco, Marjan Sabaghian, Crystalena Sofocleous, Francesca Forzano, Pietro Palumbo, Orazio Palumbo, Savino Calvano, Leopoldo Zelante, Paola Grammatico, Sabrina Giglio, Mohamed Basly, Myriam Chaabouni, Massimo Carella, Gianni Russo, Maria Clara Bonaglia and Orsetta Zuffardi Eur J Hum Genet 2015 23: 1025-1032; advance online publication, November 5, 2014; 10.1038/ejhg.2014.237 Abstract | Full Text 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 Ullman, Paola Cogo, Renato Cutrera and Olivier Danhaive Eur J Hum Genet 2015 23: 1033-1041; advance online publication, March 18, 2015; 10.1038/ejhg.2015.45 Abstract | Full Text Genetic epidemiology, prevalence, and genotype–phenotype correlations in the Swedish population with osteogenesis imperfecta Katarina Lindahl, Eva Åström, Carl-Johan Rubin, Giedre Grigelioniene, Barbro Malmgren, Östen Ljunggren and Andreas Kindmark Eur J Hum Genet 2015 23: 1042-1050; advance online publication, May 6, 2015; 10.1038/ejhg.2015.81 Abstract | Full Text Truncated prelamin A expression in HGPS-like patients: a transcriptional study Florian Barthélémy, Claire Navarro, Racha Fayek, Nathalie Da Silva, Patrice Roll, Sabine Sigaudy, Junko Oshima, Gisèle Bonne, Kyriaki Papadopoulou-Legbelou, Athanasios E Evangeliou, Martha Spilioti, Martine Lemerrer, Ron A Wevers, Eva Morava, Andrée Robaglia-Schlupp, Nicolas Lévy, Marc Bartoli and Annachiara De Sandre-Giovannoli Eur J Hum Genet 2015 23: 1051-1061; advance online publication, February 4, 2015; 10.1038/ejhg.2014.239 Abstract | Full Text Epimutations of the IG-DMR and the MEG3-DMR at the 14q32.2 imprinted region in two patients with Silver–Russell Syndrome-compatible phenotypeEJHGOPEN Masayo Kagami, Seiji Mizuno, Keiko Matsubara, Kazuhiko Nakabayashi, Shinichiro Sano, Tomoko Fuke, Maki Fukami and Tsutomu Ogata Eur J Hum Genet 2015 23: 1062-1067; advance online publication, November 5, 2014; 10.1038/ejhg.2014.234 Abstract | Full Text p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas Valentina Pinna, Valentina Lanari, Paola Daniele, Federica Consoli, Emanuele Agolini, Katia Margiotti, Irene Bottillo, Isabella Torrente, Alessandro Bruselles, Caterina Fusilli, Anna Ficcadenti, Sara Bargiacchi, Eva Trevisson, Monica Forzan, Sandra Giustini, Chiara Leoni, Giuseppe Zampino, Maria Cristina Digilio, Bruno Dallapiccola, Maurizio Clementi, Marco Tartaglia and Alessandro De Luca Eur J Hum Genet 2015 23: 1068-1071; advance online publication, November 5, 2014; 10.1038/ejhg.2014.243 Abstract | Full Text Quantification of mutant E-cadherin using bioimaging analysis of in situ fluorescence microscopy. A new approach to CDH1 missense variantsEJHGOPEN João Miguel Sanches, Joana Figueiredo, Martina Fonseca, Cecília Durães, Soraia Melo, Sofia Esménio and Raquel Seruca Eur J Hum Genet 2015 23: 1072-1079; advance online publication, November 12, 2014; 10.1038/ejhg.2014.240 Abstract | Full Text Germline variants in POLE are associated with early onset mismatch repair deficient colorectal cancer Fadwa A Elsayed, C Marleen Kets, Dina Ruano, Brendy van den Akker, Arjen R Mensenkamp, Melanie Schrumpf, Maartje Nielsen, Juul T Wijnen, Carli M Tops, Marjolijn J Ligtenberg, Hans FA Vasen, Frederik J Hes, Hans Morreau and Tom van Wezel Eur J Hum Genet 2015 23: 1080-1084; advance online publication, November 5, 2014; 10.1038/ejhg.2014.242 Abstract | Full Text Novel genomic signals of recent selection in an Ethiopian population Fasil Tekola-Ayele, Adebowale Adeyemo, Guanjie Chen, Elena Hailu, Abraham Aseffa, Gail Davey, Melanie J Newport and Charles N Rotimi Eur J Hum Genet 2015 23: 1085-1092; advance online publication, November 5, 2014; 10.1038/ejhg.2014.233 Abstract | Full Text Genotyping of geographically diverse Druze trios reveals substructure and a recent bottleneck Jamal Zidan, Dan Ben-Avraham, Shai Carmi, Taiseer Maray, Eitan Friedman and Gil Atzmon Eur J Hum Genet 2015 23: 1093-1099; advance online publication, November 5, 2014; 10.1038/ejhg.2014.218 Abstract | Full Text Expression analysis in intestinal mucosa reveals complex relations among genes under the association peaks in celiac diseaseEJHGOPEN Leticia Plaza-Izurieta, Nora Fernandez-Jimenez, Iñaki Irastorza, Amaia Jauregi-Miguel, Irati Romero-Garmendia, Juan Carlos Vitoria and Jose Ramon Bilbao Eur J Hum Genet 2015 23: 1100-1105; advance online publication, November 12, 2014; 10.1038/ejhg.2014.244 Abstract | Full Text Identification of schizophrenia-associated loci by combining DNA methylation and gene expression data from whole blood Kristel R van Eijk, Simone de Jong, Eric Strengman, Jacobine E Buizer-Voskamp, René S Kahn, Marco P Boks, Steve Horvath and Roel A Ophoff Eur J Hum Genet 2015 23: 1106-1110; advance online publication, November 26, 2014; 10.1038/ejhg.2014.245 Abstract | Full Text Clinical Utility Gene Cards Top Clinical utility gene card for: Prototypic hereditary recurrent fever syndromes (monogenic autoinflammatory syndromes) Martina Witsch-Baumgartner and Isabelle Touitou Eur J Hum Genet 2015 23: ; advance online publication, November 19, 2014; 10.1038/ejhg.2014.257 Full Text Clinical utility gene card for: Zellweger syndrome spectrum Hendrik Rosewich, Hans Waterham, Bwee Tien Poll-The, Andreas Ohlenbusch and Jutta Gärtner Eur J Hum Genet 2015 23: ; advance online publication, November 19, 2014; 10.1038/ejhg.2014.250 Full Text Corrigenda Top Genetic epidemiology, prevalence, and genotype–phenotype correlations in the Swedish population with osteogenesis imperfecta Katarina Lindahl, Eva Åström, Carl-Johan Rubin, Giedre Grigelioniene, Barbro Malmgren, Östen Ljunggren and Andreas Kindmark Eur J Hum Genet 2015 23: 1112; 10.1038/ejhg.2015.129 Full Text A prospective cohort study assessing clinical referral management & workforce allocation within a UK regional medical genetics service Caroline Benjamin, Catherine Houghton, Claire Foo, Chris Edgar, Gail Mannion, Jan Birch, Ian Ellis and Astrid Weber Eur J Hum Genet 2015 23: 1112; 10.1038/ejhg.2015.82 Full Text Natureevents is a fully searchable, multi-disciplinary database designed to maximise exposure for events organisers. The contents of the Natureevents Directory are now live. The digital version is available here. Find the latest scientific conferences, courses, meetings and symposia on natureevents.com. For event advertising opportunities across the Nature Publishing Group portfolio please contact natureevents@nature.com More Nature Events Please note that you need to be a subscriber or site-licence holder to enjoy full-text access to European Journal of Human Genetics. In order to do so, please purchase a subscription. You have been sent this Table of Contents Alert because you have opted in to receive it. You can change or discontinue your e-mail alerts at any time, by modifying your preferences on your nature.com account at: www.nature.com/nams/svc/myaccount (You will need to log in to be recognised as a nature.com registrant). For further technical assistance, please contact our registration department. For print subscription enquiries, please contact our subscription department. For other enquiries, please contact our customer feedback department. Nature Publishing Group |One New York Plaza, Suite 4500 | New York | NY 10004-1562 | USA Nature Publishing Group's worldwide offices: London - Paris - Munich - New Delhi - Tokyo - Melbourne San Diego - San Francisco - Washington - New York - Boston Macmillan Publishers Limited is a company incorporated in England and Wales under company number 785998 and whose registered office is located at Brunel Road, Houndmills, Basingstoke, Hampshire RG21 6XS. © 2015 Nature Publishing Group, a division of Macmillan Publishers Limited. All Rights Reserved.