TABLE OF CONTENTS
Volume 16, Issue 8 (August 2008)
News and Commentary
Genomic Medicine: 'Grand challenges' in the translation of genomics to human health FREE
Geoffrey S Ginsburg
Eur J Hum Genet 16: 873-874; advance online publication, June 18, 2008; doi:10.1038/ejhg.2008.115
Articles
p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease? FREE
Marian A Kroos, Reinier A Mullaart, Laura Van Vliet, Robert J Pomponio, Hernan Amartino, Edwin H Kolodny, Gregory M Pastores, Ron A Wevers, Ans T Van der Ploeg, Dicky J J Halley and Arnold J J Reuser
Eur J Hum Genet 16: 875-879; advance online publication, February 27, 2008; doi:10.1038/ejhg.2008.34
Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion FREE
Claudia Torniero, Bernardo Dalla Bernardina, Francesca Novara, Roberto Cerini, Clara Bonaglia, Tiziano Pramparo, Roberto Ciccone, Renzo Guerrini and Orsetta Zuffardi
Eur J Hum Genet 16: 880-887; advance online publication, March 12, 2008; doi:10.1038/ejhg.2008.42
A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing loss. FREE
Alejandra Pera, Manuela Villamar, Antonio Viñuela, Marta Gandía, Carme Medà, Felipe Moreno and Concepción Hernández-Chico
Eur J Hum Genet 16: 888-896; advance online publication, February 20, 2008; doi:10.1038/ejhg.2008.30
Molecular and cytogenetic analysis of the spreading of X inactivation in a girl with microcephaly, mild dysmorphic features and t(X;5)(q22.1;q31.1) FREE
Roberto Giorda, M Clara Bonaglia, Greta Milani, Anna Baroncini, Francesca Spada, Silvana Beri, Giorgia Menozzi, Marianna Rusconi and Orsetta Zuffardi
Eur J Hum Genet 16: 897-905; advance online publication, February 27, 2008; doi:10.1038/ejhg.2008.28
Uptake of testing for BRCA1/2 mutations in South East Scotland FREE
Susan M Holloway, Birgitta Bernhard, Harry Campbell and Wayne W K Lam
Eur J Hum Genet 16: 906-912; advance online publication, February 20, 2008; doi:10.1038/ejhg.2008.17
Experience and outcome of 3 years of a European EQA scheme for genetic testing of the spinocerebellar ataxias FREE
Sara Seneca, Michael A Morris, Simon Patton, Rob Elles and Jorge Sequeiros
Eur J Hum Genet 16: 913-920; advance online publication, February 27, 2008; doi:10.1038/ejhg.2008.29
In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia FREE
Jeroen Trip, Gea Drost, Dennis J Verbove, Anneke J van der Kooi, Jan B M Kuks, Nicolette C Notermans, Jan J Verschuuren, Marianne de Visser, Baziel G M van Engelen, Carin G Faber and Ieke B Ginjaar
Eur J Hum Genet 16: 921-929; advance online publication, March 12, 2008; doi:10.1038/ejhg.2008.39
Unaffected patients with a homozygous absence of the SMN1 gene FREE
Maria J
drzejowska, Janina Borkowska, Janusz Zimowski, Anna Kostera-Pruszczyk, Micha
Milewski, Marta Jurek, Danuta Sielska, Ewa Kostyk, Walenty Nyka, Jacek Zaremba and Irena Hausmanowa-Petrusewicz
Eur J Hum Genet 16: 930-934; advance online publication, March 12, 2008; doi:10.1038/ejhg.2008.41
cDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in Denmark FREE
Morten Duno, Marie-Louise Sveen, Marianne Schwartz and John Vissing
Eur J Hum Genet 16: 935-940; advance online publication, March 12, 2008; doi:10.1038/ejhg.2008.47
How much is too much? Phenotypic consequences of Rai1 overexpression in mice FREE
Santhosh Girirajan, Nisha Patel, Rebecca E Slager, Mary E Tokarz, Maja Bucan, Jenny L Wiley and Sarah H Elsea
Eur J Hum Genet 16: 941-954; advance online publication, February 20, 2008; doi:10.1038/ejhg.2008.21
Associations of apolipoprotein E gene with ischemic stroke and intracranial atherosclerosis FREE
Shérine Abboud, Leena E Viiri, Dieter Lütjohann, Sirkka Goebeler, Teemu Luoto, Silvia Friedrichs, Philippe Desfontaines, Marie-dominique Gazagnes, Patrice Laloux, André Peeters, Pierrette Seeldrayers, Terho Lehtimaki, Pekka Karhunen, Massimo Pandolfo and Reijo Laaksonen
Eur J Hum Genet 16: 955-960; advance online publication, February 27, 2008; doi:10.1038/ejhg.2008.27
Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco–Sjögren syndrome FREE
Anna-Kaisa Anttonen, Eija Siintola, Lisbeth Tranebjaerg, Nobue K Iwata, Emilia K Bijlsma, Hiroyuki Meguro, Yaeko Ichikawa, Jun Goto, Outi Kopra and Anna-Elina Lehesjoki
Eur J Hum Genet 16: 961-969; advance online publication, February 20, 2008; doi:10.1038/ejhg.2008.22
A genome-wide linkage scan for low spinal bone mineral density in a single extended family confirms linkage to 1p36.3 FREE
Andy Willaert, Inge Van Pottelbergh, Hans Zmierczak, Stefan Goemaere, Jean-Marc Kaufman, Anne De Paepe and Paul Coucke
Eur J Hum Genet 16: 970-976; advance online publication, February 27, 2008; doi:10.1038/ejhg.2008.31
Mutation screening of PTPN22: association of the 1858T-allele with Addison's disease FREE
Beate Skinningsrud, Eystein S Husebye, Kristina Gervin, Kristian Løvås, Anne Blomhoff, Anette B Wolff, E Helen Kemp, Thore Egeland and Dag E Undlien
Eur J Hum Genet 16: 977-982; advance online publication, February 27, 2008; doi:10.1038/ejhg.2008.33
ARLTS1 germline variants and the risk for breast, prostate, and colorectal cancer FREE
Sanna Siltanen, Kirsi Syrjäkoski, Rainer Fagerholm, Tarja Ikonen, Peter Lipman, Jacob Mallott, Kaija Holli, Teuvo L J Tammela, Heikki J Järvinen, Jukka-Pekka Mecklin, Kristiina Aittomäki, Carl Blomqvist, Joan E Bailey-Wilson, Heli Nevanlinna, Lauri A Aaltonen, Johanna Schleutker and Pia Vahteristo
Eur J Hum Genet 16: 983-991; advance online publication, March 12, 2008; doi:10.1038/ejhg.2008.43
Testing informative missingness in genetic studies using case–parent triads FREE
Chao-Yu Guo, Laura Adrienne Cupples and Qiong Yang
Eur J Hum Genet 16: 992-1001; advance online publication, March 12, 2008; doi:10.1038/ejhg.2008.38
Association analysis of the skin barrier gene cystatin A at the PSORS5 locus in psoriatic patients: evidence for interaction between PSORS1 and PSORS5 FREE
Yiannis Vasilopoulos, Kevin Walters, Michael J Cork, Gordon W Duff, Gurdeep S Sagoo and Rachid Tazi-Ahnini
Eur J Hum Genet 16: 1002-1009; advance online publication, March 26, 2008; doi:10.1038/ejhg.2008.40
Short Reports
Influence of the cystathionine 
-synthase 844ins68 and methylenetetrahydrofolate reductase 677C>T polymorphisms on folate and homocysteine concentrations FREE
Carolyn M Summers, Andrea L Hammons, Laura E Mitchell, Jayne V Woodside, John W G Yarnell, Ian S Young, Alun Evans and Alexander S Whitehead
Eur J Hum Genet 16: 1010-1013; advance online publication, April 9, 2008; doi:10.1038/ejhg.2008.69
Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions FREE
Mylène Béri-Dexheimer, Véronique Latger-Cannard, Christophe Philippe, Céline Bonnet, Pascal Chambon, Virginie Roth, Marie-José Grégoire, Pierre Bordigoni, Thomas Lecompte, Bruno Leheup and Philippe Jonveaux
Eur J Hum Genet 16: 1014-1018; advance online publication, May 14, 2008; doi:10.1038/ejhg.2008.89
Epimutation (hypomethylation) affecting the chromosome 14q32.2 imprinted region in a girl with upd(14)mat-like phenotype FREE
Kana Hosoki, Tsutomu Ogata, Masayo Kagami, Touju Tanaka and Shinji Saitoh
Eur J Hum Genet 16: 1019-1023; advance online publication, May 14, 2008; doi:10.1038/ejhg.2008.90
Obituary
Marco Fraccaro FREE
Patricia A Jacobs and Bette Robson
Eur J Hum Genet 16: 1024; doi:10.1038/ejhg.2008.126
Errata
Testing replication of a 5-SNP set for general cognitive ability in six population samples FREE
Michelle Luciano, Penelope A Lind, Ian J Deary, Antony Payton, Danielle Posthuma, Lee M Butcher, Zoltan Bochdanovits, Lawrence J Whalley, Peter M Visscher, Sarah E Harris, Tinca J C Polderman, Oliver S P Davis, Margaret J Wright, John M Starr, Eco J C de Geus, Timothy C Bates, Grant W Montgomery, Dorret I Boomsma, Nicholas G Martin and Robert Plomin
Eur J Hum Genet 16: 1025; doi:10.1038/ejhg.2008.124
Genome-wide linkage scan for atypical nevi in p16-Leiden melanoma families FREE
Femke A de Snoo, Jouke-Jan Hottenga, Elizabeth M Gillanders, Lodewijk A Sandkuijl, Mary Pat Jones, Wilma Bergman, Clasine van der Drift, Inge van Leeuwen, Leny van Mourik, Jeanet A C ter Huurne, Rune R Frants, Rein Willemze, Martijn H Breuning, Jeffrey M Trent and Nelleke A Gruis
Eur J Hum Genet 16: 1025; doi:10.1038/ejhg.2008.94
Corrigendum
Micro-exons of the cardiac myosin binding protein C gene: flanking introns contain a disproportionately large number of hypertrophic cardiomyopathy mutations FREE
Rune Frank-Hansen, Stephen P Page, Petros Syrris, William J McKenna, Michael Christiansen and Paal Skytt Andersen
Eur J Hum Genet 16: 1026; doi:10.1038/ejhg.2008.80
