European Journal of Human Genetics - Table of Contents alert Volume 21 Issue 2

TABLE OF CONTENTS Volume 21, Issue 2 (February 2013) In this issue Practical Genetics Review Articles Short Reports Also new AOP Sign up for e-alerts Recommend to your library Web feed Subscribe Advertisement Check out our most downloaded article of 2012 Disease gene identification strategies for exome sequencing In this review, the authors discuss the current strategies for Mendelian disease gene identification by exome resequencing   Practical Genetics Top Inherited ichthyoses/generalized Mendelian disorders of cornification Matthias Schmuth, Verena Martinz, Andreas R Janecke, Christine Fauth, Anna Schossig, Johannes Zschocke and Robert Gruber Eur J Hum Genet 2013 21: 123-133; advance online publication, June 27, 2012; 10.1038/ejhg.2012.121 Abstract | Full Text Review Top RNA-Seq and human complex diseases: recent accomplishments and future perspectives Valerio Costa, Marianna Aprile, Roberta Esposito and Alfredo Ciccodicola Eur J Hum Genet 2013 21: 134-142; advance online publication, June 27, 2012; 10.1038/ejhg.2012.129 Abstract | Full Text Articles Top Personalized medicine and access to health care: potential for inequitable access?EJHGOpen Kelly A McClellan, Denise Avard, Jacques Simard and Bartha M Knoppers Eur J Hum Genet 2013 21: 143-147; advance online publication, July 11, 2012; 10.1038/ejhg.2012.149 Abstract | Full Text When access is an issue: exploring barriers to predictive testing for Huntington disease in British Columbia, Canada Alice K Hawkins, Susan Creighton and Michael R Hayden Eur J Hum Genet 2013 21: 148-153; advance online publication, July 11, 2012; 10.1038/ejhg.2012.147 Abstract | Full Text A unique MSH2 exon 8 deletion accounts for a major portion of all mismatch repair gene mutations in Lynch syndrome families of Sardinian origin Iolanda Borelli, Marco A Barberis, Francesca Spina, Guido C Casalis Cavalchini, Caterina Vivanet, Luisa Balestrino, Monica Micheletti, Anna Allavena, Paola Sala, Carlo Carcassi and Barbara Pasini Eur J Hum Genet 2013 21: 154-161; advance online publication, July 11, 2012; 10.1038/ejhg.2012.150 Abstract | Full Text Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies Bodo B Beck, Anne Baasner, Anja Buescher, Sandra Habbig, Nadine Reintjes, Markus J Kemper, Przemyslaw Sikora, Christoph Mache, Martin Pohl, Mirjam Stahl, Burkhard Toenshoff, Lars Pape, Henry Fehrenbach, Dorrit E Jacob, Bernd Grohe, Matthias T Wolf, Gudrun Nürnberg, Gökhan Yigit, Eduardo C Salido and Bernd Hoppe Eur J Hum Genet 2013 21: 162-172; advance online publication, July 11, 2012; 10.1038/ejhg.2012.139 Abstract | Full Text Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities Seema R Lalani, Chad Shaw, Xueqing Wang, Ankita Patel, Lance W Patterson, Katarzyna Kolodziejska, Przemyslaw Szafranski, Zhishuo Ou, Qi Tian, Sung-Hae L Kang, Amina Jinnah, Sophia Ali, Aamir Malik, Patricia Hixson, Lorraine Potocki, James R Lupski, Pawel Stankiewicz, Carlos A Bacino, Brian Dawson, Arthur L Beaudet, Fatima M Boricha, Runako Whittaker, Chumei Li, Stephanie M Ware, Sau Wai Cheung, Daniel J Penny, John Lynn Jefferies and John W Belmont Eur J Hum Genet 2013 21: 173-181; advance online publication, August 29, 2012; 10.1038/ejhg.2012.155 Abstract | Full Text 16p11.2–p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2 John C K Barber, Victoria Hall, Viv K Maloney, Shuwen Huang, Angharad M Roberts, Angela F Brady, Nicki Foulds, Beverley Bewes, Marianne Volleth, Thomas Liehr, Karl Mehnert, Mark Bateman and Helen White Eur J Hum Genet 2013 21: 182-189; advance online publication, July 25, 2012; 10.1038/ejhg.2012.144 Abstract | Full Text A novel LRSAM1 mutation is associated with autosomal dominant axonal Charcot-Marie-Tooth disease Paschalis Nicolaou, Carlo Cianchetti, Anna Minaidou, Giovanni Marrosu, Eleni Zamba-Papanicolaou, Lefkos Middleton and Kyproula Christodoulou Eur J Hum Genet 2013 21: 190-194; advance online publication, July 11, 2012; 10.1038/ejhg.2012.146 Abstract | Full Text NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications Orianne Philippe, Marlène Rio, Valérie Malan, Hilde Van Esch, Geneviève Baujat, Nadia Bahi-Buisson, Vassili Valayannopoulos, Roseline Gesny, Jean-Paul Bonnefont, Arnold Munnich, Guy Froyen, Jeanne Amiel, Nathalie Boddaert and Laurence Colleaux Eur J Hum Genet 2013 21: 195-199; advance online publication, July 18, 2012; 10.1038/ejhg.2012.140 Abstract | Full Text Atrioventricular canal defect in patients with RASopathies Maria Cristina Digilio, Francesca Romana Lepri, Maria Lisa Dentici, Alex Henderson, Anwar Baban, Maria Cristina Roberti, Rossella Capolino, Paolo Versacci, Cecilia Surace, Adriano Angioni, Marco Tartaglia, Bruno Marino and Bruno Dallapiccola Eur J Hum Genet 2013 21: 200-204; advance online publication, July 11, 2012; 10.1038/ejhg.2012.145 Abstract | Full Text Using identity by descent estimation with dense genotype data to detect positive selection Lide Han and Mark Abney Eur J Hum Genet 2013 21: 205-211; advance online publication, July 11, 2012; 10.1038/ejhg.2012.148 Abstract | Full Text Haplotype analysis of the 185delAG BRCA1 mutation in ethnically diverse populations Yael Laitman, Bing-Jian Feng, Itay M Zamir, Jeffrey N Weitzel, Paul Duncan, Danielle Port, Eswary Thirthagiri, Soo-Hwang Teo, Gareth Evans, Ayse Latif, William G Newman, Ruth Gershoni-Baruch, Jamal Zidan, Shani Shimon-Paluch, David Goldgar and Eitan Friedman Eur J Hum Genet 2013 21: 212-216; advance online publication, July 4, 2012; 10.1038/ejhg.2012.124 Abstract | Full Text Smoothed functional principal component analysis for testing association of the entire allelic spectrum of genetic variation Li Luo, Yun Zhu and Momiao Xiong Eur J Hum Genet 2013 21: 217-224; advance online publication, July 11, 2012; 10.1038/ejhg.2012.141 Abstract | Full Text Short Reports Top A newly identified locus for benign adult familial myoclonic epilepsy on chromosome 3q26.32-3q28 Patra Yeetong, Surasawadee Ausavarat, Roongroj Bhidayasiri, Krisna Piravej, Nath Pasutharnchat, Tayard Desudchit, Chaipat Chunharas, Jakrin Loplumlert, Chusak Limotai, Kanya Suphapeetiporn and Vorasuk Shotelersuk Eur J Hum Genet 2013 21: 225-228; advance online publication, June 20, 2012; 10.1038/ejhg.2012.133 Abstract | Full Text TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype Giuseppe Marangi, Vincenzo Leuzzi, Filippo Manti, Serena Lattante, Daniela Orteschi, Vanna Pecile, Giovanni Neri and Marcella Zollino Eur J Hum Genet 2013 21: 229-232; advance online publication, May 2, 2012; 10.1038/ejhg.2012.79 Abstract | Full Text Ehlers–Danlos syndrome type VIII is clinically heterogeneous disorder associated primarily with periodontal disease, and variable connective tissue features Eyal Reinstein, Celia Dawn DeLozier, Ziv Simon, Serguei Bannykh, David L Rimoin and Cynthia J Curry Eur J Hum Genet 2013 21: 233-236; advance online publication, June 27, 2012; 10.1038/ejhg.2012.132 Abstract | Full Text Genetic analysis of SIGMAR1 as a cause of familial ALS with dementia Véronique V Belzil, Hussein Daoud, William Camu, Michael J Strong, Patrick A Dion and Guy A Rouleau Eur J Hum Genet 2013 21: 237-239; advance online publication, June 27, 2012; 10.1038/ejhg.2012.135 Abstract | Full Text Genetic investigation of FOXO3A requires special attention due to sequence homology with FOXO3B Friederike Flachsbart, Michael Möller, Carolin Däumer, Liljana Gentschew, Rabea Kleindorp, Michael Krawczak, Amke Caliebe, Stefan Schreiber and Almut Nebel Eur J Hum Genet 2013 21: 240-242; advance online publication, May 16, 2012; 10.1038/ejhg.2012.83 Abstract | Full Text Natureevents is a fully searchable, multi-disciplinary database designed to maximise exposure for events organisers. 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