European Journal of Human Genetics - Table of Contents alert Volume 20 Issue 2

TABLE OF CONTENTS Volume 20, Issue 2 (February 2012) In this issue News And Commentary Letter Review Articles Short Reports Book Reviews Clinical Utility Gene Cards Corrigendum 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. Learn more and download your free information kit. Sign up for e-alerts Recommend to your library Web feed Subscribe Advertisement Free for everyone: Practical Genetics series A one-stop information resource for genetics clinicians. Concise and focused reviews on individual genetic disorders, the latest diagnostic criteria and management guidelines, by leading authorities in the field. All in an easy-to-use format. Read the series for FREE.   News And Commentary Top A British approach to sampling Chris Tyler-Smith and Yali Xue Eur J Hum Genet 2012 20: 129-130; advance online publication, August 10, 2011; 10.1038/ejhg.2011.153 Full Text Letter Top Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms Mala Isrie, Yvonne Hendriks, Nicole Gielissen, Erik A Sistermans, Marjolein H Willemsen, Hilde Peeters, Joris R Vermeesch, Tjitske Kleefstra and Hilde Van Esch Eur J Hum Genet 2012 20: 131-133; advance online publication, June 8, 2011; 10.1038/ejhg.2011.105 Full Text Review Top Cerebral cavernous malformations: from molecular pathogenesis to genetic counselling and clinical management Remco A Haasdijk, Caroline Cheng, Anneke J Maat-Kievit and Henricus J Duckers Eur J Hum Genet 2012 20: 134-140; advance online publication, August 10, 2011; 10.1038/ejhg.2011.155 Abstract | Full Text Articles Top Permanence of the information given during oncogenetic counseling to persons at familial risk of breast/ovarian and/or colon cancer Fabrice Kwiatkowski, Pascal Dessenne, Claire Laquet, Marie-Françoise Petit and Yves-Jean Bignon Eur J Hum Genet 2012 20: 141-147; advance online publication, September 21, 2011; 10.1038/ejhg.2011.169 Abstract | Full Text Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith–Magenis syndrome Gustavo H Vieira, Jayson D Rodriguez, Paulina Carmona-Mora, Lei Cao, Bruno F Gamba, Daniel R Carvalho, Andréa de Rezende Duarte, Suely R Santos, Deise H de Souza, Barbara R DuPont, Katherina Walz, Danilo Moretti-Ferreira and Anand K Srivastava Eur J Hum Genet 2012 20: 148-154; advance online publication, September 7, 2011; 10.1038/ejhg.2011.167 Abstract | Full Text De novo deletions and duplications detected by array CGH: a study of parental origin in relation to mechanisms of formation and size of imbalance Charlene Sibbons, Joan K Morris, John A Crolla, Patricia A Jacobs and N Simon Thomas Eur J Hum Genet 2012 20: 155-160; advance online publication, September 28, 2011; 10.1038/ejhg.2011.182 Abstract | Full Text Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics Nicolien M Hanemaaijer, Birgit Sikkema-Raddatz, Gerben van der Vries, Trijnie Dijkhuizen, Roel Hordijk, Anthonie J van Essen, Hermine E Veenstra-Knol, Wilhelmina S Kerstjens-Frederikse, Johanna C Herkert, Erica H Gerkes, Lamberta K Leegte, Klaas Kok, Richard J Sinke and Conny M A van Ravenswaaij-Arts Eur J Hum Genet 2012 20: 161-165; advance online publication, September 21, 2011; 10.1038/ejhg.2011.174 Abstract | Full Text Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies Beata A Nowakowska, Nicole de Leeuw, Claudia AL Ruivenkamp, Birgit Sikkema-Raddatz, John A Crolla, Reinhilde Thoelen, Marije Koopmans, Nicolette den Hollander, Arie van Haeringen, Anne-Marie van der Kevie-Kersemaekers, Rolph Pfundt, Hanneke Mieloo, Ton van Essen, Bert B A de Vries, Andrew Green, Willie Reardon, Jean-Pierre Fryns and Joris R Vermeesch Eur J Hum Genet 2012 20: 166-170; advance online publication, September 14, 2011; 10.1038/ejhg.2011.157 Abstract | Full Text Identification and functional analysis of novel THAP1 mutations Katja Lohmann, Nils Uflacker, Alev Erogullari, Thora Lohnau, Susen Winkler, Andreas Dendorfer, Susanne A Schneider, Alma Osmanovic, Marina Svetel, Andreas Ferbert, Simone Zittel, Andrea A Kühn, Alexander Schmidt, Eckart Altenmüller, Alexander Münchau, Christoph Kamm, Matthias Wittstock, Andreas Kupsch, Elena Moro, Jens Volkmann, Vladimir Kostic, Frank J Kaiser, Christine Klein and Norbert Brüggemann Eur J Hum Genet 2012 20: 171-175; advance online publication, August 17, 2011; 10.1038/ejhg.2011.159 Abstract | Full Text Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43–q44 Sandesh C Sreenath Nagamani, Ayelet Erez, Carolyn Bay, Anjana Pettigrew, Seema R Lalani, Kristin Herman, Brett H Graham, Malgorzata JM Nowaczyk, Monica Proud, William J Craigen, Bobbi Hopkins, Beth Kozel, Katie Plunkett, Patricia Hixson, Pawel Stankiewicz, Ankita Patel and Sau Wai Cheung Eur J Hum Genet 2012 20: 176-179; advance online publication, September 21, 2011; 10.1038/ejhg.2011.171 Abstract | Full Text Functional analysis of a promoter variant identified in the CFTR gene in cis of a frameshift mutation Victoria Viart, Marie Des Georges, Mireille Claustres and Magali Taulan Eur J Hum Genet 2012 20: 180-184; advance online publication, August 17, 2011; 10.1038/ejhg.2011.161 Abstract | Full Text Epigenetic regulation of the X-chromosomal macrosatellite repeat encoding for the cancer/testis gene CT47 Judit Balog, Dan Miller, Elena Sanchez-Curtailles, Jose Carbo-Marques, Gregory Block, Marco Potman, Peter de Knijff, Richard JLF Lemmers, Stephen J Tapscott and Silvère M van der Maarel Eur J Hum Genet 2012 20: 185-191; advance online publication, August 3, 2011; 10.1038/ejhg.2011.150 Abstract | Full Text Association of TMEM18 variants with BMI and waist circumference in children and correlation of mRNA expression in the PFC with body weight in rats Mathias Rask-Andersen, Josefin A Jacobsson, George Moschonis, Rohit A Chavan, Md Abu Noman Sikder, Elin Allzén, Johan Alsiö, George P Chrousos, Yannis Manios, Robert Fredriksson and Helgi B Schiöth Eur J Hum Genet 2012 20: 192-197; advance online publication, September 28, 2011; 10.1038/ejhg.2011.176 Abstract | Full Text Genome-wide homozygosity and multiple sclerosis in Orkney and Shetland Islanders Rebekah E McWhirter, Ruth McQuillan, Elizabeth Visser, Carl Counsell and James F Wilson Eur J Hum Genet 2012 20: 198-202; advance online publication, September 7, 2011; 10.1038/ejhg.2011.170 Abstract | Full Text People of the British Isles: preliminary analysis of genotypes and surnames in a UK-control population Bruce Winney, Abdelhamid Boumertit, Tammy Day, Dan Davison, Chikodi Echeta, Irina Evseeva, Katarzyna Hutnik, Stephen Leslie, Kristin Nicodemus, Ellen C Royrvik, Susan Tonks, Xiaofeng Yang, James Cheshire, Paul Longley, Pablo Mateos, Alexandra Groom, Caroline Relton, D Tim Bishop, Kathryn Black, Emma Northwood, Louise Parkinson, Timothy M Frayling, Anna Steele, Julian R Sampson, Turi King, Ron Dixon, Derek Middleton, Barbara Jennings, Rory Bowden, Peter Donnelly and Walter Bodmer Eur J Hum Genet 2012 20: 203-210; advance online publication, August 10, 2011; 10.1038/ejhg.2011.127 Abstract | Full Text Surname and Y chromosome in Southern Europe: a case study with Colom/Colombo Luis Javier Martínez-González, Esther Martínez-Espín, Juan Carlos Álvarez, Francesc Albardaner, Olga Rickards, Cristina Martínez-Labarga, Francesc Calafell and José Antonio Lorente Eur J Hum Genet 2012 20: 211-216; advance online publication, August 17, 2011; 10.1038/ejhg.2011.162 Abstract | Full Text On the statistical properties of family-based association tests in datasets containing both pedigrees and unrelated case–control samples Tero Hiekkalinna, Harald HH Göring, Brian Lambert, Kenneth M Weiss, Petri Norrgrann, Alejandro A Schäffer and Joseph D Terwilliger Eur J Hum Genet 2012 20: 217-223; advance online publication, September 21, 2011; 10.1038/ejhg.2011.173 Abstract | Full Text Imaging genetics of FOXP2 in dyslexia Arndt Wilcke, Carolin Ligges, Jana Burkhardt, Michael Alexander, Christiane Wolf, Elfi Quente, Peter Ahnert, Per Hoffmann, Albert Becker, Bertram Müller-Myhsok, Sven Cichon, Johannes Boltze and Holger Kirsten Eur J Hum Genet 2012 20: 224-229; advance online publication, September 7, 2011; 10.1038/ejhg.2011.160 Abstract | Full Text Involvement of surfactant protein D in emphysema revealed by genetic association study Takeo Ishii, Koichi Hagiwara, Koichiro Kamio, Shinobu Ikeda, Tomio Arai, Makiko Naka Mieno, Toshio Kumasaka, Masaaki Muramatsu, Motoji Sawabe, Akihiko Gemma and Kozui Kida Eur J Hum Genet 2012 20: 230-235; advance online publication, September 21, 2011; 10.1038/ejhg.2011.183 Abstract | Full Text Short Reports Top Peutz–Jeghers syndrome and family planning: the attitude towards prenatal diagnosis and pre-implantation genetic diagnosis Margot G F van Lier, Susanne E Korsse, Elisabeth M H Mathus-Vliegen, Ernst J Kuipers, Ans M W van den Ouweland, Kathleen Vanheusden, Monique E van Leerdam and Anja Wagner Eur J Hum Genet 2012 20: 236-239; advance online publication, August 10, 2011; 10.1038/ejhg.2011.152 Abstract | Full Text Beckwith–Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1 Rebecca L Poole, Donald J Leith, Louise E Docherty, Mansur E Shmela, Christine Gicquel, Miranda Splitt, I Karen Temple and Deborah J G Mackay Eur J Hum Genet 2012 20: 240-243; advance online publication, August 24, 2011; 10.1038/ejhg.2011.166 Abstract | Full Text Book Reviews Top DNA and ability to reproduce: the ‘Secret’ of evolution Alessandra Ferlini Eur J Hum Genet 2012 20: 244-245; 10.1038/ejhg.2011.165 Full Text A useful guide for your practice Cristina Rusu Eur J Hum Genet 2012 20: 245; 10.1038/ejhg.2011.117 Full Text Clinical Utility Gene Cards Top Clinical utility gene card for: Multi-minicore disease Suzanne Lillis, Steve Abbs, Ana Ferreiro, Francesco Muntoni and Heinz Jungbluth Eur J Hum Genet 2012 20: ; advance online publication, October 19, 2011; 10.1038/ejhg.2011.180 Full Text Clinical utility gene card for: Mayer–Rokitansky–Küster–Hauser syndrome Karine Morcel, Bruno Dallapiccola, Laurent Pasquier, Tanguy Watrin, Laura Bernardini and Daniel Guerrier Eur J Hum Genet 2012 20: ; advance online publication, September 7, 2011; 10.1038/ejhg.2011.158 Full Text Clinical utility gene card for: Central core disease Suzanne Lillis, Stephen Abbs, Clemens R Mueller, Francesco Muntoni and Heinz Jungbluth Eur J Hum Genet 2012 20: ; advance online publication, October 12, 2011; 10.1038/ejhg.2011.179 Full Text Clinical utility gene card for: Cystinuria Thomas Eggermann, Klaus Zerres, Virginia Nunes, Mariona Font-Llitjós, Luigi Bisceglia, Anthoula Chatzikyriakidou, Luca dello Strologo, Elon Pras, John Creemers and Manuel Palacin Eur J Hum Genet 2012 20: ; advance online publication, August 24, 2011; 10.1038/ejhg.2011.163 Full Text Clinical utility gene card for: Phenylketonuria Johannes Zschocke, Thomas Haverkamp and Lisbeth Birk Møller Eur J Hum Genet 2012 20: ; advance online publication, September 14, 2011; 10.1038/ejhg.2011.172 Full Text Clinical utility gene card for: Fabry disease Andreas Gal, Michael Beck and Bryan Winchester Eur J Hum Genet 2012 20: ; advance online publication, September 21, 2011; 10.1038/ejhg.2011.178 Full Text Corrigendum Top Human balanced translocation and mouse gene inactivation implicate Basonuclin 2 in distal urethral development Elizabeth J Bhoj, Purita Ramos, Linda A Baker, Vidu Garg, Nicholas Cost, Agneta Nordenskjöld, Frederick F Elder, Steven B Bleyl, Neil E Bowles, Cammon B Arrington, Brigitte Delhomme, Amandine Vanhoutteghem, Philippe Djian and Andrew R Zinn Eur J Hum Genet 2012 20: 249; 10.1038/ejhg.2011.137 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. 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