European Journal of Human Genetics - Table of Contents alert Volume 21 Issue 4

TABLE OF CONTENTS Volume 21, Issue 4 (April 2013) In this issue News and Commentary Letters Articles Short Reports Erratum Also new AOP Sign up for e-alerts Recommend to your library Web feed Subscribe News and Commentary Top Detecting genetic variants for extreme aging using multiple data sources Jeanine J Houwing-Duistermaat Eur J Hum Genet 2013 21: 359-360; advance online publication, August 15, 2012; 10.1038/ejhg.2012.183 Full Text Letters Top Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorderEJHGOpen Dianne F Newbury, Francesca Mari, Elham Sadighi Akha, Kay D MacDermot, Roberto Canitano, Anthony P Monaco, Jenny C Taylor, Alessandra Renieri, Simon E Fisher and Samantha J L Knight Eur J Hum Genet 2013 21: 361-365; advance online publication, August 22, 2012; 10.1038/ejhg.2012.166 Full Text Do regulatory regions matter in FOXG1 duplications? Antonio Falace, Nicola Vanni, Antonello Mallamaci, Pasquale Striano and Federico Zara Eur J Hum Genet 2013 21: 365-366; advance online publication, July 4, 2012; 10.1038/ejhg.2012.142 Full Text Articles Top Genome-wide linkage analysis is a powerful prenatal diagnostic tool in families with unknown genetic defects Maria Arélin, Bernt Schulze, Bertram Müller-Myhsok, Denise Horn, Alexander Diers, Birgit Uhlenberg, Peter Nürnberg, Gudrun Nürnberg, Christian Becker, Stefan Mundlos, Tom H Lindner, Karl Sperling and Katrin Hoffmann Eur J Hum Genet 2013 21: 367-372; advance online publication, October 3, 2012; 10.1038/ejhg.2012.198 Abstract | Full Text Copy number analysis of 413 isolated talipes equinovarus patients suggests role for transcriptional regulators of early limb development David M Alvarado, Jillian G Buchan, Steven L Frick, John E Herzenberg, Matthew B Dobbs and Christina A Gurnett Eur J Hum Genet 2013 21: 373-380; advance online publication, August 15, 2012; 10.1038/ejhg.2012.177 Abstract | Full Text Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria Karine Poirier, Yoann Saillour, Franck Fourniol, Fiona Francis, Isabelle Souville, Stéphanie Valence, Isabelle Desguerre, Jean Marie Lepage, Nathalie Boddaert, Marine Line Jacquemont, Cherif Beldjord, Jamel Chelly and Nadia Bahi-Buisson Eur J Hum Genet 2013 21: 381-385; advance online publication, September 5, 2012; 10.1038/ejhg.2012.195 Abstract | Full Text Connective tissue spectrum abnormalities associated with spontaneous cerebrospinal fluid leaks: a prospective study Eyal Reinstein, Mitchel Pariani, Serguei Bannykh, David L Rimoin and Wouter I Schievink Eur J Hum Genet 2013 21: 386-390; advance online publication, August 29, 2012; 10.1038/ejhg.2012.191 Abstract | Full Text Newborn screening for cystic fibrosis: Polish 4 years’ experience with CFTR sequencing strategy Agnieszka Sobczyńska-Tomaszewska, Mariusz Ołtarzewski, Kamila Czerska, Katarzyna Wertheim-Tysarowska, Dorota Sands, Jarosław Walkowiak, Jerzy Bal and Tadeusz Mazurczak NBS CF working group Eur J Hum Genet 2013 21: 391-396; advance online publication, August 15, 2012; 10.1038/ejhg.2012.180 Abstract | Full Text Identification of SNPs in the cystic fibrosis interactome influencing pulmonary progression in cystic fibrosis Franziska M Gisler, Thomas von Kanel, Richard Kraemer, André Schaller and Sabina Gallati Eur J Hum Genet 2013 21: 397-403; advance online publication, August 15, 2012; 10.1038/ejhg.2012.181 Abstract | Full Text Utilizing extended pedigree information for discovery and confirmation of copy number variable regions among Mexican Americans August Blackburn, Harald HH Göring, Angela Dean, Melanie A Carless, Thomas Dyer, Satish Kumar, Sharon Fowler, Joanne E Curran, Laura Almasy, Michael Mahaney, Anthony Comuzzie, Ravindranath Duggirala, John Blangero and Donna M Lehman Eur J Hum Genet 2013 21: 404-409; advance online publication, August 22, 2012; 10.1038/ejhg.2012.188 Abstract | Full Text Dilution of candidates: the case of iron-related genes in restless legs syndrome Konrad Oexle, Barbara Schormair, Janina S Ried, Darina Czamara, Katharina Heim, Birgit Frauscher, Birgit Högl, Claudia Trenkwalder, G Martin Fiedler, Joachim Thiery, Peter Lichtner, Holger Prokisch, Michael Specht, Bertram Müller-Myhsok, Angela Döring, Christian Gieger, Annette Peters, H-Erich Wichmann, Thomas Meitinger and Juliane Winkelmann Eur J Hum Genet 2013 21: 410-414; advance online publication, August 29, 2012; 10.1038/ejhg.2012.193 Abstract | Full Text Contemporary paternal genetic landscape of Polish and German populations: from early medieval Slavic expansion to post-World War II resettlements Krzysztof Rębała, Begoña Martínez-Cruz, Anke Tönjes, Peter Kovacs, Michael Stumvoll, Iris Lindner, Andreas Büttner, H-Erich Wichmann, Daniela Siváková, Miroslav Soták, Lluís Quintana-Murci, Zofia Szczerkowska, David Comas and the Genographic Consortium Eur J Hum Genet 2013 21: 415-422; advance online publication, September 12, 2012; 10.1038/ejhg.2012.190 Abstract | Full Text Evidence from Y-chromosome analysis for a late exclusively eastern expansion of the Bantu-speaking people Naser Ansari Pour, Christopher A Plaster and Neil Bradman Eur J Hum Genet 2013 21: 423-429; advance online publication, August 15, 2012; 10.1038/ejhg.2012.176 Abstract | Full Text Genetic perspectives on the origin of clicks in Bantu languages from southwestern Zambia Chiara Barbieri, Anne Butthof, Koen Bostoen and Brigitte Pakendorf Eur J Hum Genet 2013 21: 430-436; advance online publication, August 29, 2012; 10.1038/ejhg.2012.192 Abstract | Full Text Genetic heterogeneity in Finnish hereditary prostate cancer using ordered subset analysis Claire L Simpson, Cheryl D Cropp, Tiina Wahlfors, Asha George, MaryPat S Jones, Ursula Harper, Damaris Ponciano-Jackson, Teuvo Tammela, Johanna Schleutker and Joan E Bailey-Wilson Eur J Hum Genet 2013 21: 437-443; advance online publication, September 5, 2012; 10.1038/ejhg.2012.185 Abstract | Full Text Familial cosegregation of rare genetic variants with disease in complex disorders Ingo Helbig, Susan E Hodge and Ruth Ottman Eur J Hum Genet 2013 21: 444-450; advance online publication, September 26, 2012; 10.1038/ejhg.2012.194 Abstract | Full Text Analyzing age-specific genetic effects on human extreme age survival in cohort-based longitudinal studies Qihua Tan, Rune Jacobsen, Mette Sørensen, Lene Christiansen, Torben A Kruse and Kaare Christensen Eur J Hum Genet 2013 21: 451-454; advance online publication, August 15, 2012; 10.1038/ejhg.2012.182 Abstract | Full Text Childhood Apraxia of Speech (CAS) in two patients with 16p11.2 microdeletion syndrome Gordana Raca, Becky S Baas, Salman Kirmani, Jennifer J Laffin, Craig A Jackson, Edythe A Strand, Kathy J Jakielski and Lawrence D Shriberg Eur J Hum Genet 2013 21: 455-459; advance online publication, August 22, 2012; 10.1038/ejhg.2012.165 Abstract | Full Text Short Reports Top Fine mapping of whole RB1 gene deletions in retinoblastoma patients confirms PCDH8 as a candidate gene for psychomotor delay Laurent Castéra, Catherine Dehainault, Dorothée Michaux, Livia Lumbroso-Le Rouic, Isabelle Aerts, Francois Doz, Anna Pelet, Jérôme Couturier, Dominique Stoppa-Lyonnet, Marion Gauthier-Villars and Claude Houdayer Eur J Hum Genet 2013 21: 460-464; advance online publication, August 22, 2012; 10.1038/ejhg.2012.186 Abstract | Full Text The frequency of an IL-18-associated haplotype in Africans Simon R Thompson, Steve E Humphries, Mark G Thomas, Rosemary Ekong, Ayele Tarekegn, Endeshaw Bekele, Olivia Creemer, Neil Bradman and Krishna R Veeramah Eur J Hum Genet 2013 21: 465-468; advance online publication, August 29, 2012; 10.1038/ejhg.2012.184 Abstract | Full Text High prevalence of occult paragangliomas in asymptomatic carriers of SDHD and SDHB gene mutations Berdine L Heesterman, Jean Pierre Bayley, Carli M Tops, Frederik J Hes, Bernadette T J van Brussel, Eleonora P M Corssmit, Jaap F Hamming, Andel G L van der Mey and Jeroen C Jansen Eur J Hum Genet 2013 21: 469-470; advance online publication, September 5, 2012; 10.1038/ejhg.2012.203 Abstract | Full Text WikiGWA: an open platform for collecting and using genome-wide association results Jie Huang, Eric Y Liu, Ryan Welch, Cristen Willer, Lucia A Hindorff and Yun Li Eur J Hum Genet 2013 21: 471-473; advance online publication, August 29, 2012; 10.1038/ejhg.2012.187 Abstract | Full Text A familial case of alveolar capillary dysplasia with misalignment of pulmonary veins supports paternal imprinting of FOXF1 in human Partha Sen, Romana Gerychova, Petr Janku, Marta Jezova, Iveta Valaskova, Colby Navarro, Iris Silva, Claire Langston, Stephen Welty, John Belmont and Pawel Stankiewicz Eur J Hum Genet 2013 21: 474-477; advance online publication, September 19, 2012; 10.1038/ejhg.2012.171 Abstract | Full Text Erratum Top Preparation and validation of the first WHO international genetic reference panel for Fragile X syndrome Malcolm Hawkins, Jennifer Boyle, Kathleen E Wright, Rob Elles, Simon C Ramsden, Anna O'Grady, Michael Sweeney, David E Barton, Trent Burgess, Melanie Moore, Chris Burns, Glyn Stacey, Elaine Gray, Paul Metcalfe and J Ross Hawkins Eur J Hum Genet 2013 21: 478; 10.1038/ejhg.2012.189 Full Text Natureevents is a fully searchable, multi-disciplinary database designed to maximise exposure for events organisers. 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