TABLE OF CONTENTS

Volume 19, Issue 5 (May 2011)

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Policy

Strengthening the reporting of genetic risk prediction studies (GRIPS): explanation and elaboration EJHGOpen

A Cecile JW Janssens, John PA Ioannidis, Sara Bedrosian, Paolo Boffetta, Siobhan M Dolan, Nicole Dowling, Isabel Fortier, Andrew N Freedman, Jeremy M Grimshaw, Jeffrey Gulcher, Marta Gwinn, Mark A Hlatky, Holly Janes, Peter Kraft, Stephanie Melillo, Christopher J O'Donnell, Michael J Pencina, David Ransohoff, Sheri D Schully, Daniela Seminara, Deborah M Winn, Caroline F Wright, Cornelia M van Duijn, Julian Little and Muin J Khoury

Eur J Hum Genet 19: ; advance online publication, March 16, 2011; doi:10.1038/ejhg.2011.27

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Articles

Breast and ovarian cancer screening of non-carriers from BRCA1/2 mutation-positive families: 2-year follow-up of cohorts from France and Quebec FREE

Michel Dorval, Catherine Noguès, Pascaline Berthet, Jocelyne Chiquette, Marion Gauthier-Villars, Christine Lasset, Claude Picard, Marie Plante, INHERIT BRCAs, GENEPSO Cohort, Jacques Simard and Claire Julian-Reynier

Eur J Hum Genet 19: 494-499; advance online publication, January 19, 2011; doi:10.1038/ejhg.2010.227

Cancer risk management strategies and perceptions of unaffected women 5 years after predictive genetic testing for BRCA1/2 mutations EJHGOpen

Claire Julian-Reynier, Julien Mancini, Emmanuelle Mouret-Fourme, Marion Gauthier-Villars, Valérie Bonadona, Pascaline Berthet, Jean-Pierre Fricker, Olivier Caron, Elisabeth Luporsi and Catherine Noguès

Eur J Hum Genet 19: 500-506; advance online publication, January 26, 2011; doi:10.1038/ejhg.2010.241

De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation FREE

Ute Grasshoff, Michael Bonin, Ina Goehring, Arif Ekici, Andreas Dufke, Kirsten Cremer, Nicholas Wagner, Eva Rossier, Anna Jauch, Michael Walter, Claudia Bauer, Peter Bauer, Karl Horber, Stefanie Beck-Woedl and Dagmar Wieczorek

Eur J Hum Genet 19: 507-512; advance online publication, February 16, 2011; doi:10.1038/ejhg.2010.226

Bohring–Opitz (Oberklaid–Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis FREE

Rob Hastings, Jan-Maarten Cobben, Gabriele Gillessen-Kaesbach, Judith Goodship, Hanne Hove, Susanne Kjaergaard, Helena Kemp, Helen Kingston, Peter Lunt, Sahar Mansour, Ruth McGowan, Kay Metcalfe, Catherine Murdoch-Davis, Mary Ray, Marlène Rio, Sarah Smithson, John Tolmie, Peter Turnpenny, Bregje van Bon, Dagmar Wieczorek and Ruth Newbury-Ecob

Eur J Hum Genet 19: 513-519; advance online publication, February 2, 2011; doi:10.1038/ejhg.2010.234

Three novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissections FREE

Sabine Hoffjan, Stephan Waldmüller, Wulf Blankenfeldt, Judith Kötting, Petra Gehle, Priska Binner, Joerg T Epplen and Thomas Scheffold

Eur J Hum Genet 19: 520-524; advance online publication, January 19, 2011; doi:10.1038/ejhg.2010.239

Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders FREE

Jana Herholz, Alessandra Meloni, Mara Marongiu, Francesca Chiappe, Manila Deiana, Carmen Roche Herrero, Giuseppe Zampino, Hanan Hamamy, Yusra Zalloum, Per Erik Waaler, Giangiorgio Crisponi, Laura Crisponi and Frank Rutsch

Eur J Hum Genet 19: 525-533; advance online publication, February 16, 2011; doi:10.1038/ejhg.2010.253

The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth FREE

Sally Ann Lynch, Nicola Foulds, Ann-Charlotte Thuresson, Amanda L Collins, Göran Annerén, Bernt-Oves Hedberg, Carol A Delaney, James Iremonger, Caroline M Murray, John A Crolla, Colm Costigan, Wayne Lam, David R Fitzpatrick, Regina Regan, Sean Ennis and Freddie Sharkey

Eur J Hum Genet 19: 534-539; advance online publication, January 26, 2011; doi:10.1038/ejhg.2010.215

Human balanced translocation and mouse gene inactivation implicate Basonuclin 2 in distal urethral development FREE

Elizabeth J Bhoj, Purita Ramos, Linda A Baker, 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 19: 540-546; advance online publication, February 2, 2011; doi:10.1038/ejhg.2010.245

Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypes FREE

Jill A Rosenfeld, Lindsey E Stephens, Justine Coppinger, Blake C Ballif, Joe J Hoo, Beatrice N French, Valerie C Banks, Wendy E Smith, David Manchester, Anne Chun-Hui Tsai, Katrina Merrion, Roberto Mendoza-Londono, Lucie Dupuis, Roger Schultz, Beth Torchia, Trilochan Sahoo, Bassem Bejjani, David D Weaver and Lisa G Shaffer

Eur J Hum Genet 19: 547-554; advance online publication, January 19, 2011; doi:10.1038/ejhg.2010.237

Pericentric inversion of chromosome 18 in parents leading to a phenotypically normal child with segmental uniparental disomy 18 FREE

Ariana Kariminejad, Roxana Kariminejad, Azadeh Moshtagh, Maryam Zanganeh, Mohammad Hassan Kariminejad, Stefan Neuenschwander, Michal Okoniewski, Eva Wey, Albert Schinzel and Alessandra Baumer

Eur J Hum Genet 19: 555-560; advance online publication, February 16, 2011; doi:10.1038/ejhg.2010.252

HTT haplotypes contribute to differences in Huntington disease prevalence between Europe and East Asia FREE

Simon C Warby, Henk Visscher, Jennifer A Collins, Crystal N Doty, Catherine Carter, Stefanie L Butland, Anna R Hayden, Ichiro Kanazawa, Colin J Ross and Michael R Hayden

Eur J Hum Genet 19: 561-566; advance online publication, January 19, 2011; doi:10.1038/ejhg.2010.229

Dutch myotonic dystrophy type 2 patients and a North-African DM2 family carry the common European founder haplotype FREE

Marieke J H Coenen, Alide A Tieleman, Mascha M V A P Schijvenaars, Maike Leferink, Laura P W Ranum, Hans Scheffer and Baziel G M van Engelen

Eur J Hum Genet 19: 567-570; advance online publication, January 12, 2011; doi:10.1038/ejhg.2010.233

Mitochondrial analysis of a Byzantine population reveals the differential impact of multiple historical events in South Anatolia FREE

Claudio Ottoni, François-X Ricaut, Nancy Vanderheyden, Nicolas Brucato, Marc Waelkens and Ronny Decorte

Eur J Hum Genet 19: 571-576; advance online publication, January 12, 2011; doi:10.1038/ejhg.2010.230

Epistasis between neurochemical gene polymorphisms and risk for ADHD FREE

Ricardo Segurado, Mark A Bellgrove, Francesca Manconi, Michael Gill and Ziarah Hawi

Eur J Hum Genet 19: 577-582; advance online publication, February 2, 2011; doi:10.1038/ejhg.2010.250

Consanguinity around the world: what do the genomic data of the HGDP-CEPH diversity panel tell us? FREE

Anne-Louise Leutenegger, Mourad Sahbatou, Steven Gazal, Howard Cann and Emmanuelle Génin

Eur J Hum Genet 19: 583-587; advance online publication, March 2, 2011; doi:10.1038/ejhg.2010.205

Analysis of genetic deletions and duplications in the University College London bipolar disorder case control sample FREE

Andrew McQuillin, Nicholas Bass, Adebayo Anjorin, Jacob Lawrence, Radhika Kandaswamy, Greg Lydall, Jennifer Moran, Pamela Sklar, Shaun Purcell and Hugh Gurling

Eur J Hum Genet 19: 588-592; advance online publication, January 5, 2011; doi:10.1038/ejhg.2010.221

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Short Reports

Association of a variant in the CHRNA5-A3-B4 gene cluster region to heavy smoking in the Italian population FREE

Rossella Sorice, Silvia Bione, Serena Sansanelli, Sheila Ulivi, Emmanouil Athanasakis, Carmela Lanzara, Teresa Nutile, Cinzia Sala, Clara Camaschella, Pio D'Adamo, Paolo Gasparini, Marina Ciullo and Daniela Toniolo

Eur J Hum Genet 19: 593-596; advance online publication, January 19, 2011; doi:10.1038/ejhg.2010.240

Homozygosity mapping in outbred families with mental retardation FREE

Janneke H M Schuurs-Hoeijmakers, Jayne Y Hehir-Kwa, Rolph Pfundt, Bregje W M van Bon, Nicole de Leeuw, Tjitske Kleefstra, Michèl A Willemsen, Ad Geurts van Kessel, Han G Brunner, Joris A Veltman, Hans van Bokhoven, Arjan P M de Brouwer and Bert B A de Vries

Eur J Hum Genet 19: 597-601; advance online publication, January 19, 2011; doi:10.1038/ejhg.2010.167

Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia FREE

Marie Cognet, Agnés Nougayrede, Valérie Malan, Patrick Callier, Celia Cretolle, Laurence Faivre, David Genevieve, Alice Goldenberg, Delphine Heron, Sandra Mercier, Nicole Philip, Sabine Sigaudy, Alain Verloes, Sabine Sarnacki, Arnold Munnich, Michel Vekemans, Stanislas Lyonnet, Heather Etchevers, Jeanne Amiel and Loïc de Pontual

Eur J Hum Genet 19: 602-606; advance online publication, January 12, 2011; doi:10.1038/ejhg.2010.225

Intellectual disability without epilepsy associated with STXBP1 disruption FREE

Fadi F Hamdan, Julie Gauthier, Sylvia Dobrzeniecka, Anne Lortie, Laurent Mottron, Michel Vanasse, Guy D'Anjou, Jean Claude Lacaille, Guy A Rouleau and Jacques L Michaud

Eur J Hum Genet 19: 607-609; advance online publication, March 2, 2011; doi:10.1038/ejhg.2010.183

The effect of genome-wide association scan quality control on imputation outcome for common variants EJHGOpen

Lorraine Southam, Kalliope Panoutsopoulou, N William Rayner, Kay Chapman, Caroline Durrant, Teresa Ferreira, Nigel Arden, Andrew Carr, Panos Deloukas, Michael Doherty, John Loughlin, Andrew McCaskie, William E R Ollier, Stuart Ralston, Timothy D Spector, Ana M Valdes, Gillian A Wallis, J Mark Wilkinson, the arcOGEN consortium, Jonathan Marchini and Eleftheria Zeggini

Eur J Hum Genet 19: 610-614; advance online publication, January 26, 2011; doi:10.1038/ejhg.2010.242

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Clinical Utility Gene Cards

Clinical utility gene card for: α-1-antitrypsin deficiency FREE

Sabina Janciauskiene, Ilaria Ferrarotti, Florian Laenger, Danny Jonigk and Maurizio Luisetti

Eur J Hum Genet 19: doi:10.1038/ejhg.2010.246

Clinical utility gene card for: Diamond Blackfan anemia FREE

Adrianna Vlachos, Niklas Dahl, Irma Dianzani and Jeffrey M Lipton

Eur J Hum Genet 19: doi:10.1038/ejhg.2010.247

Clinical utility gene card for: von Willebrand disease FREE

Anthony M Cumming, Stephen Keeney, P Vincent Jenkins, Michael J Nash and James S O'Donnell

Eur J Hum Genet 19: doi:10.1038/ejhg.2010.222