European Journal of Human Genetics - Table of Contents alert Volume 20 Issue 4

TABLE OF CONTENTS Volume 20, Issue 4 (April 2012) In this issue Letters Articles Short Reports Also new AOP Advertisement Accelerate Your Next-Generation Sequencing Sample QC. The new Agilent 2200 TapeStation system offers researchers a new level of confidence in their sample and library quality control. Designed for scalability, speed and simplicity, the system provides results in approximately one minute per sample, even for 96 samples. Read about our special introductory offer and download free information kit now. Sign up for e-alerts Recommend to your library Web feed Subscribe Advertisement Accelerate Next Generation Sequencing Research The Next Generation Sequencing (NGS) Collection for Pipeline Pilot offers a uniquely agile and scalable platform for automated NGS Data analysis. The NGS Collection works with all current sequencing technologies and is designed for use with Oxford Nanopore when launched Check out the unparalleled power and flexibility of the NGS Collection. Download case study   Letters Top ‘Nasal’ speech–hyper or hypo? Edwin P Kirk Eur J Hum Genet 2012 20: 367; advance online publication, December 7, 2011; 10.1038/ejhg.2011.228 Full Text Nasal speech in patients with 12q15 microdeletions Sarah Vergult, Danijela Krgovic, Bart Loeys, Stanislas Lyonnet, Agne Liedén, Britt-Marie Anderlid, Freddie Sharkey, Shelagh Joss, Geert Mortier and Björn Menten Eur J Hum Genet 2012 20: 367; advance online publication, December 7, 2011; 10.1038/ejhg.2011.230 Full Text Articles Top Preimplantation genetic diagnosis (PGD) for Huntington's disease: the experience of three European centres Maartje C Van Rij, Marjan De Rademaeker, Céline Moutou, Jos CFM Dreesen, Martine De Rycke, Inge Liebaers, Joep PM Geraedts, Christine EM De Die-Smulders and Stéphane Viville on behalf of the BruMaStra PGD working group Eur J Hum Genet 2012 20: 368-375; advance online publication, November 9, 2011; 10.1038/ejhg.2011.202 Abstract | Full Text Preimplantation genetic diagnosis in female and male carriers of reciprocal translocations: clinical outcome until delivery of 312 cycles Kathelijn Keymolen, Catherine Staessen, Willem Verpoest, Inge Liebaers and Maryse Bonduelle Eur J Hum Genet 2012 20: 376-380; advance online publication, November 9, 2011; 10.1038/ejhg.2011.208 Abstract | Full Text How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum Siddharth Banka, Ratna Veeramachaneni, William Reardon, Emma Howard, Sancha Bunstone, Nicola Ragge, Michael J Parker, Yanick J Crow, Bronwyn Kerr, Helen Kingston, Kay Metcalfe, Kate Chandler, Alex Magee, Fiona Stewart, Vivienne P M McConnell, Deirdre E Donnelly, Siren Berland, Gunnar Houge, Jenny E Morton, Christine Oley, Nicole Revencu, Soo-Mi Park, Sally J Davies, Andrew E Fry, Sally Ann Lynch, Harinder Gill, Susann Schweiger, Wayne W K Lam, John Tolmie, Shehla N Mohammed, Emma Hobson, Audrey Smith, Moira Blyth, Christopher Bennett, Pradeep C Vasudevan, Sixto García-Miñaúr, Alex Henderson, Judith Goodship, Michael J Wright, Richard Fisher, Richard Gibbons, Susan M Price, Deepthi C de Silva, I Karen Temple, Amanda L Collins, Katherine Lachlan, Frances Elmslie, Meriel McEntagart, Bruce Castle, Jill Clayton-Smith, Graeme C Black and Dian Donnai Eur J Hum Genet 2012 20: 381-388; advance online publication, November 30, 2011; 10.1038/ejhg.2011.220 Abstract | Full Text Novel mutation and three other sequence variants segregating with phenotype at keratoconus 13q32 susceptibility locus Marta Czugala, Justyna A Karolak, Dorota M Nowak, Piotr Polakowski, Jose Pitarque, Andrea Molinari, Malgorzata Rydzanicz, Bassem A Bejjani, Beatrice Y J T Yue, Jacek P Szaflik and Marzena Gajecka Eur J Hum Genet 2012 20: 389-397; advance online publication, November 2, 2011; 10.1038/ejhg.2011.203 Abstract | Full Text Severe intellectual disability and autistic features associated with microduplication 2q23.1 Brian HY Chung, Sureni Mullegama, Christian R Marshall, Anath C Lionel, Rosanna Weksberg, Lucie Dupuis, Lauren Brick, Chumei Li, Stephen W Scherer, Swaroop Aradhya, D James Stavropoulos, Sarah H Elsea and Roberto Mendoza-Londono Eur J Hum Genet 2012 20: 398-403; advance online publication, November 16, 2011; 10.1038/ejhg.2011.199 Abstract | Full Text A unique library of myogenic cells from facioscapulohumeral muscular dystrophy subjects and unaffected relatives: family, disease and cell function Sachiko Homma, Jennifer CJ Chen, Fedik Rahimov, Mary Lou Beermann, Kendal Hanger, Genila M Bibat, Kathryn R Wagner, Louis M Kunkel, Charles P Emerson, Jr and Jeffrey Boone Miller Eur J Hum Genet 2012 20: 404-410; advance online publication, November 23, 2011; 10.1038/ejhg.2011.213 Abstract | Full Text Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas Laura Thomas, Gill Spurlock, Claire Eudall, Nick S Thomas, Matthew Mort, Stephen E Hamby, Nadia Chuzhanova, Hilde Brems, Eric Legius, David N Cooper and Meena Upadhyaya Eur J Hum Genet 2012 20: 411-419; advance online publication, November 23, 2011; 10.1038/ejhg.2011.207 Abstract | Full Text In search of triallelism in Bardet–Biedl syndrome Leen Abu-Safieh, Shamsa Al-Anazi, Lama Al-Abdi, Mais Hashem, Hisham Alkuraya, Mushari Alamr, Mugtaba O Sirelkhatim, Zuhair Al-Hassnan, Basim Alkuraya, Jawahir Y Mohamed, Ahmad Al-Salem, May Alrashed, Eissa Faqeih, Ameen Softah, Amal Al-Hashem, Sami Wali, Zuhair Rahbeeni, Moeen Alsayed, Arif O Khan, Lihadh Al-Gazali, Peter EM Taschner, Selwa Al-Hazzaa and Fowzan S Alkuraya Eur J Hum Genet 2012 20: 420-427; advance online publication, February 22, 2012; 10.1038/ejhg.2011.205 Abstract | Full Text Effects of single-nucleotide polymorphisms in the human holocarboxylase synthetase gene on enzyme catalysis Shingo Esaki, Sridhar A Malkaram and Janos Zempleni Eur J Hum Genet 2012 20: 428-433; advance online publication, October 26, 2011; 10.1038/ejhg.2011.198 Abstract | Full Text Temporal differentiation across a West-European Y-chromosomal cline: genealogy as a tool in human population genetics Maarten HD Larmuseau, Claudio Ottoni, Joost AM Raeymaekers, Nancy Vanderheyden, Hendrik FM Larmuseau and Ronny Decorte Eur J Hum Genet 2012 20: 434-440; advance online publication, November 30, 2011; 10.1038/ejhg.2011.218 Abstract | Full Text Sephardic signature in haplogroup T mitochondrial DNA Felice L Bedford Eur J Hum Genet 2012 20: 441-448; advance online publication, November 23, 2011; 10.1038/ejhg.2011.200 Abstract | Full Text A flexible likelihood framework for detecting associations with secondary phenotypes in genetic studies using selected samples: application to sequence data Dajiang J Liu and Suzanne M Leal Eur J Hum Genet 2012 20: 449-456; advance online publication, December 14, 2011; 10.1038/ejhg.2011.211 Abstract | Full Text Case report: type 1 diabetes in monozygotic quadruplets Katerina Stechova, Zbynek Halbhuber, Miluse Hubackova, Jana Kayserova, Lenka Petruzelkova, Jana Vcelakova, Stanislava Kolouskova, Tereza Ulmannova, Maria Faresjö, Ales Neuwirth, Radek Spisek, Anna Sediva, Dominik Filipp and Zdenek Sumnik Eur J Hum Genet 2012 20: 457-462; advance online publication, November 23, 2011; 10.1038/ejhg.2011.212 Abstract | Full Text UGT1A1 is a major locus influencing bilirubin levels in African Americans Guanjie Chen, Edward Ramos, Adebowale Adeyemo, Daniel Shriner, Jie Zhou, Ayo P Doumatey, Hanxia Huang, Michael R Erdos, Norman P Gerry, Alan Herbert, Amy R Bentley, Huichun Xu, Bashira A Charles, Michael F Christman and Charles N Rotimi Eur J Hum Genet 2012 20: 463-468; advance online publication, November 16, 2011; 10.1038/ejhg.2011.206 Abstract | Full Text A statistical method for region-based meta-analysis of genome-wide association studies in genetically diverse populations Xu Wang, Xuanyao Liu, Xueling Sim, Haiyan Xu, Chiea-Chuen Khor, Rick Twee-Hee Ong, Wan-Ting Tay, Chen Suo, Wan-Ting Poh, Daniel Peng-Keat Ng, Jianjun Liu, Tin Aung, Kee-Seng Chia, Tien-Yin Wong, E-Shyong Tai and Yik-Ying Teo Eur J Hum Genet 2012 20: 469-475; advance online publication, November 30, 2011; 10.1038/ejhg.2011.219 Abstract | Full Text Short Reports Top Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration Tyler Mark Pierson, Dimitre R Simeonov, Murat Sincan, David A Adams, Thomas Markello, Gretchen Golas, Karin Fuentes-Fajardo, Nancy F Hansen, Praveen F Cherukuri, Pedro Cruz, James C Mullikin for the NISC Comparative Sequencing Program67, Craig Blackstone, Cynthia Tifft, Cornelius F Boerkoel and William A Gahl Eur J Hum Genet 2012 20: 476-479; advance online publication, December 7, 2011; 10.1038/ejhg.2011.222 Abstract | Full Text Antilipolytic effect of calcimimetics depends on the allelic variant of calcium-sensing receptor gene polymorphism rs1042636 (Arg990Gly) Marcela Reyes, Hansjörg M Rothe, Pamela Mattar, Warren B Shapiro and Mariana Cifuentes Eur J Hum Genet 2012 20: 480-482; advance online publication, December 14, 2011; 10.1038/ejhg.2011.221 Abstract | Full Text Advertisement Free for everyone: Clinical Utility Gene Cards Bringing together information regarding a specific disease and providing clinicians with guidance on genetic testing for hereditary conditions in real settings of clinical genetic services. Read the series for FREE.   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 | 75 Varick Street, 9th Floor | New York | NY 10013-1917 | 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. © 2012 Nature Publishing Group, a division of Macmillan Publishers Limited. All Rights Reserved.