European Journal of Human Genetics - Table of Contents alert Volume 23 Issue 7

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TABLE OF CONTENTS Volume 23, Issue 7 (July 2015) In this issue Policy Articles Short Report Also new AOP Sign up for e-alerts Recommend to your library Web feed Subscribe Advertisement Web Focus: Genetics and Gastrointestinal Diseases Genetics and genomics are beginning to strongly influence the care of patients with GI conditions. This web focus brings together seminal articles exploring new genomic findings in clinical practice that have been published in Genetics in Medicine, The American Journal of Gastroenterology and Clinical and Translational Gastroenterology. Access the focus online.    Policy Top BBMRI-ERIC as a resource for pharmaceutical and life science industries: the development of biobank-based Expert CentresEJHGOPEN Gert-Jan B van Ommen, Outi Törnwall, Christian Bréchot, Georges Dagher, Joakim Galli, Kristian Hveem, Ulf Landegren, Claudio Luchinat, Andres Metspalu, Cecilia Nilsson, Ove V Solesvik, Markus Perola, Jan-Eric Litton and Kurt Zatloukal Eur J Hum Genet 2015 23: 893-900; advance online publication, November 19, 2014; 10.1038/ejhg.2014.235 Abstract | Full Text Articles Top Comparison of array comparative genomic hybridization and quantitative real-time PCR-based aneuploidy screening of blastocyst biopsies Antonio Capalbo, Nathan R Treff, Danilo Cimadomo, Xin Tao, Kathleen Upham, Filippo Maria Ubaldi, Laura Rienzi and Richard T Scott, Jr Eur J Hum Genet 2015 23: 901-906; advance online publication, October 29, 2014; 10.1038/ejhg.2014.222 Abstract | Full Text Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants Beatriz Paumard-Hernández, Julia Berges-Soria, Eva Barroso, Carlos I Rivera-Pedroza, Virginia Pérez-Carrizosa, Sara Benito-Sanz, Eva López-Messa, Fernando Santos, Ignacio I García-Recuero, Ana Romance, Juliana María Ballesta-Martínez, Vanesa López-González, Ángel Campos-Barros, Jaime Cruz, Encarna Guillén-Navarro, Jaime Sánchez del Pozo, Pablo Lapunzina, Sixto García-Miñaur and Karen E Heath Eur J Hum Genet 2015 23: 907-914; advance online publication, October 1, 2014; 10.1038/ejhg.2014.205 Abstract | Full Text Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications Przemyslaw Szafranski, Sailaja Golla, Weihong Jin, Ping Fang, Patricia Hixson, Reuben Matalon, Daniel Kinney, Hans-georg Bock, William Craigen, Janice L Smith, Weimin Bi, Ankita Patel, Sau Wai Cheung, Carlos A Bacino and Paweł Stankiewicz Eur J Hum Genet 2015 23: 915-921; advance online publication, October 15, 2014; 10.1038/ejhg.2014.217 Abstract | Full Text Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects Marja W Wessels, Johanna C Herkert, Ingrid M Frohn-Mulder, Michiel Dalinghaus, Arthur van den Wijngaard, Ronald R de Krijger, Michelle Michels, Irenaeus FM de Coo, Yvonne M Hoedemaekers and Dennis Dooijes Eur J Hum Genet 2015 23: 922-928; advance online publication, October 22, 2014; 10.1038/ejhg.2014.211 Abstract | Full Text Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing Juliette Nectoux, Rafael de Cid, Sylvain Baulande, France Leturcq, Jon Andoni Urtizberea, Isabelle Penisson-Besnier, Aleksandra Nadaj-Pakleza, Carinne Roudaut, Audrey Criqui, Lucie Orhant, Delphine Peyroulan, Raba Ben Yaou, Isabelle Nelson, Anna Maria Cobo, Marie-Christine Arné-Bes, Emmanuelle Uro-Coste, Patrick Nitschke, Mireille Claustres, Gisèle Bonne, Nicolas Lévy, Jamel Chelly, Isabelle Richard and Mireille Cossée Eur J Hum Genet 2015 23: 929-934; advance online publication, October 29, 2014; 10.1038/ejhg.2014.223 Abstract | Full Text A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiencyEJHGOPEN Monika Oláhová, Tobias B Haack, Charlotte L Alston, Jessica AC Houghton, Langping He, Andrew AM Morris, Garry K Brown, Robert McFarland, Zofia MA Chrzanowska-Lightowlers, Robert N Lightowlers, Holger Prokisch and Robert W Taylor Eur J Hum Genet 2015 23: 935-939; advance online publication, October 8, 2014; 10.1038/ejhg.2014.214 Abstract | Full Text Genome-wide scan identifies a copy number variable region at 3p21.1 that influences the TLR9 expression levels in IgA nephropathy patients Fabio Sallustio, Sharon N Cox, Grazia Serino, Claudia Curci, Francesco Pesce, Giuseppe De Palma, Aikaterini Papagianni, Dimitrios Kirmizis, Mario Falchi and Francesco P Schena on behalf of the European IgAN Consortium Eur J Hum Genet 2015 23: 940-948; advance online publication, October 8, 2014; 10.1038/ejhg.2014.208 Abstract | Full Text C6ORF97-ESR1 breast cancer susceptibility locus: influence on progression and survival in breast cancer patients Mutsuko Yamamoto-Ibusuki, Yutaka Yamamoto, Saori Fujiwara, Aiko Sueta, Satoko Yamamoto, Mitsuhiro Hayashi, Mai Tomiguchi, Takashi Takeshita and Hirotaka Iwase Eur J Hum Genet 2015 23: 949-956; advance online publication, November 5, 2014; 10.1038/ejhg.2014.219 Abstract | Full Text Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma Jean- Benoît Courcet, Siham Chafai Elalaoui, Laurence Duplomb, Mariam Tajir, Jean-Baptiste Rivière, Julien Thevenon, Nadège Gigot, Nathalie Marle, Bernard Aral, Yannis Duffourd, Alain Sarasin, Valeria Naim, Emilie Courcet-Degrolard, Marie- Hélène Aubriot-Lorton, Laurent Martin, Jamal Eddin Abrid, Christel Thauvin, Abdelaziz Sefiani, Pierre Vabres and Laurence Faivre Eur J Hum Genet 2015 23: 957-962; advance online publication, October 15, 2014; 10.1038/ejhg.2014.213 Abstract | Full Text Expanding the mutational spectrum of LZTR1 in schwannomatosis Irene Paganini, Vivian Y Chang, Gabriele L Capone, Jeremie Vitte, Matteo Benelli, Lorenzo Barbetti, Roberta Sestini, Eva Trevisson, Theo JM Hulsebos, Marco Giovannini, Stanley F Nelson and Laura Papi Eur J Hum Genet 2015 23: 963-968; advance online publication, October 22, 2014; 10.1038/ejhg.2014.220 Abstract | Full Text A genetic risk score for hypertension associates with the risk of ischemic stroke in a Swedish case–control study Cristiano Fava, Marketa Sjögren, Sandra Olsson, Håkan Lövkvist, Katarina Jood, Gunnar Engström, Bo Hedblad, Bo Norrving, Christina Jern, Arne Lindgren and Olle Melander Eur J Hum Genet 2015 23: 969-974; advance online publication, October 8, 2014; 10.1038/ejhg.2014.212 Abstract | Full Text Rare variant genotype imputation with thousands of study-specific whole-genome sequences: implications for cost-effective study designs Giorgio Pistis, Eleonora Porcu, Scott I Vrieze, Carlo Sidore, Maristella Steri, Fabrice Danjou, Fabio Busonero, Antonella Mulas, Magdalena Zoledziewska, Andrea Maschio, Christine Brennan, Sandra Lai, Michael B Miller, Marco Marcelli, Maria Francesca Urru, Maristella Pitzalis, Robert H Lyons, Hyun M Kang, Chris M Jones, Andrea Angius, William G Iacono, David Schlessinger, Matt McGue, Francesco Cucca, Gonçalo R Abecasis and Serena Sanna Eur J Hum Genet 2015 23: 975-983; advance online publication, October 8, 2014; 10.1038/ejhg.2014.216 Abstract | Full Text The correlation between ancestry and color in two cities of Northeast Brazil with contrasting ethnic compositions Thiago Magalhães da Silva, M R Sandhya Rani, Gustavo Nunes de Oliveira Costa, Maria A Figueiredo, Paulo S Melo, João F Nascimento, Neil D Molyneaux, Maurício L Barreto, Mitermayer G Reis, M Glória Teixeira and Ronald E Blanton Eur J Hum Genet 2015 23: 984-989; advance online publication, October 8, 2014; 10.1038/ejhg.2014.215 Abstract | Full Text Short Report Top Meconium ileus in a Lebanese family secondary to mutations in the GUCY2C gene Amanda Smith, Dennis E Bulman, Claire Goldsmith, Eric Bareke, FORGE Canada Consortium1, Jacek Majewski, Kym M Boycott and Sarah M Nikkel Eur J Hum Genet 2015 23: 990-992; advance online publication, November 5, 2014; 10.1038/ejhg.2014.236 Abstract | Full Text Natureevents is a fully searchable, multi-disciplinary database designed to maximise exposure for events organisers. 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