European Journal of Human Genetics - Table of Contents alert Volume 22 Issue 10

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TABLE OF CONTENTS Volume 22, Issue 10 (October 2014) In this issue Articles Short Reports Also new AOP Sign up for e-alerts Recommend to your library Web feed Subscribe Articles Top Trends in genetic patent applications: the commercialization of academic intellectual propertyEJHGOPEN Jannigje G Kers, Elco Van Burg, Tom Stoop and Martina C Cornel Eur J Hum Genet 2014 22: 1155-1159; advance online publication, January 22, 2014; 10.1038/ejhg.2013.305 Abstract | Full Text Unexpected high intrafamilial phenotypic variability observed in hypophosphatasia Christine Hofmann, Hermann Girschick, Etienne Mornet, Doris Schneider, Franz Jakob and Birgit Mentrup Eur J Hum Genet 2014 22: 1160-1164; advance online publication, February 26, 2014; 10.1038/ejhg.2014.10 Abstract | Full Text Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairmentEJHGOPEN Fabiola Ceroni, Nuala H Simpson, Clyde Francks, Gillian Baird, Gina Conti-Ramsden, Ann Clark, Patrick F Bolton, Elizabeth R Hennessy, Peter Donnelly, David R Bentley, Hilary Martin, IMGSAC11, SLI Consortium2, WGS500 Consortium2, Jeremy Parr, Alistair T Pagnamenta, Elena Maestrini, Elena Bacchelli, Simon E Fisher and Dianne F Newbury Eur J Hum Genet 2014 22: 1165-1171; advance online publication, February 12, 2014; 10.1038/ejhg.2014.4 Abstract | Full Text Subfertility and growth restriction in a new galactose-1 phosphate uridylyltransferase (GALT) - deficient mouse model Manshu Tang, Anwer Siddiqi, Benjamin Witt, Tatiana Yuzyuk, Britt Johnson, Nisa Fraser, Wyman Chen, Rafael Rascon, Xue Yin, Harish Goli, Olaf A Bodamer and Kent Lai Eur J Hum Genet 2014 22: 1172-1179; advance online publication, February 19, 2014; 10.1038/ejhg.2014.12 Abstract | Full Text Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation Tahir Naeem Khan, Joakim Klar, Muhammad Tariq, Shehla Anjum Baig, Naveed Altaf Malik, Raja Yousaf, Shahid Mahmood Baig and Niklas Dahl Eur J Hum Genet 2014 22: 1180-1184; advance online publication, January 29, 2014; 10.1038/ejhg.2014.5 Abstract | Full Text Fragile X syndrome due to a missense mutation Leila K Myrick, Mika Nakamoto-Kinoshita, Noralane M Lindor, Salman Kirmani, Xiaodong Cheng and Stephen T Warren Eur J Hum Genet 2014 22: 1185-1189; advance online publication, January 22, 2014; 10.1038/ejhg.2013.311 Abstract | Full Text Using ancestry-informative markers to identify fine structure across 15 populations of European originEJHGOPEN Laura M Huckins, Vesna Boraska, Christopher S Franklin, James A B Floyd, Lorraine Southam, GCAN, WTCCC, Patrick F Sullivan, Cynthia M Bulik, David A Collier, Chris Tyler-Smith, Eleftheria Zeggini and Ioanna Tachmazidou Eur J Hum Genet 2014 22: 1190-1200; advance online publication, February 19, 2014; 10.1038/ejhg.2014.1 Abstract | Full Text Microsatellite data show recent demographic expansions in sedentary but not in nomadic human populations in Africa and Eurasia Carla Aimé, Paul Verdu, Laure Ségurel, Begoña Martinez-Cruz, Tatyana Hegay, Evelyne Heyer and Frédéric Austerlitz Eur J Hum Genet 2014 22: 1201-1207; advance online publication, February 12, 2014; 10.1038/ejhg.2014.2 Abstract | Full Text Genetic ancestry is associated with colorectal adenomas and adenocarcinomas in Latino populations Gustavo Hernandez-Suarez, Maria Carolina Sanabria, Marta Serrano, Oscar F Herran, Jesus Perez, Jose L Plata, Jovanny Zabaleta and Albert Tenesa Eur J Hum Genet 2014 22: 1208-1216; advance online publication, February 12, 2014; 10.1038/ejhg.2013.310 Abstract | Full Text Controversial association results for INSIG2 on body mass index may be explained by interactions with age and with MC4R Dörthe Malzahn, Martina Müller-Nurasyid, Iris M Heid, H-Erich Wichmann, the KORA study group6 and Heike Bickeböller Eur J Hum Genet 2014 22: 1217-1224; advance online publication, February 12, 2014; 10.1038/ejhg.2014.3 Abstract | Full Text Short Reports Top Availability of treatment drives decisions of genetic health professionals about disclosure of incidental findings Erin Turbitt, Michelle M Wiest, Jane L Halliday, David J Amor and Sylvia A Metcalfe Eur J Hum Genet 2014 22: 1225-1228; advance online publication, February 5, 2014; 10.1038/ejhg.2014.11 Abstract | Full Text A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia Mugdha Joshi, Jacqueline Eagan, Nirav K Desai, Stephanie A Newton, Meghan C Towne, Nicholas S Marinakis, Kristyn M Esteves, Sarah De Ferranti, Michael J Bennett, Adam McIntyre, Alan H Beggs, Gerard T Berry and Pankaj B Agrawal Eur J Hum Genet 2014 22: 1229-1232; advance online publication, February 19, 2014; 10.1038/ejhg.2014.8 Abstract | Full Text Genome-wide UPD screening in patients with intellectual disability Christopher Schroeder, Arif Bülent Ekici, Ute Moog, Ute Grasshoff, Ulrike Mau-Holzmann, Marc Sturm, Vanessa Vosseler, Sven Poths, Gudrun Rappold, Angelika Riess, Olaf Riess, Andreas Dufke and Michael Bonin Eur J Hum Genet 2014 22: 1233-1235; advance online publication, May 7, 2014; 10.1038/ejhg.2014.63 Abstract | Full Text A de novo nonsense PDGFB mutation causing idiopathic basal ganglia calcification with laryngeal dystonia Gaël Nicolas, Agnès Jacquin, Christel Thauvin-Robinet, Anne Rovelet-Lecrux, Olivier Rouaud, Cyril Pottier, Marie-Hélène Aubriot-Lorton, Stéphane Rousseau, David Wallon, Christian Duvillard, Yannick Béjot, Thierry Frébourg, Maurice Giroud, Dominique Campion and Didier Hannequin Eur J Hum Genet 2014 22: 1236-1238; advance online publication, February 12, 2014; 10.1038/ejhg.2014.9 Abstract | Full Text Accuracy of imputation to infer unobserved APOE epsilon alleles in genome-wide genotyping data Farid Radmanesh, William J Devan, Christopher D Anderson, Jonathan Rosand and Guido J Falcone for the Alzheimer’s Disease Neuroimaging Initiative (ADNI) Eur J Hum Genet 2014 22: 1239-1242; advance online publication, January 22, 2014; 10.1038/ejhg.2013.308 Abstract | Full Text Natureevents is a fully searchable, multi-disciplinary database designed to maximise exposure for events organisers. 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