The EDGE

Fair allocation of health-care resources: finding a model that does not disenfranchise users of genetic services. A commentary on Rogowski et al....

Heather Skirton

Eur J Hum Genet 2014 22: 1-2; advance online publication, August 7, 2013; 10.1038/ejhg.2013.170

Viewpoint

Return of whole-genome sequencing results in paediatric research: a statement of the P³G international paediatrics platform

Bartha Maria Knoppers, Denise Avard, Karine Sénécal and Ma'n H Zawati along with the P3G International Paediatrics Platform members

Eur J Hum Genet 2014 22: 3-5; advance online publication, August 7, 2013; 10.1038/ejhg.2013.176

Letters

Autonomy and the patient's right ‘not to know’ in clinical whole-genomic sequencing

Anne Townsend, Francois Rousseau, Jan Friedman, Shelin Adam, Zoe Lohn and Patricia Birch

Eur J Hum Genet 2014 22: 6; advance online publication, May 15, 2013; 10.1038/ejhg.2013.94

Reply to Townsend et al.

Carmen Ayuso, José M Millán, Marta Mancheño and Rafael Dal-Ré

Eur J Hum Genet 2014 22: 7; advance online publication, May 15, 2013; 10.1038/ejhg.2013.95

Inconsistent inheritance of telomere length (TL): is offspring TL more strongly correlated with maternal or paternal TL?

Dan T A Eisenberg

Eur J Hum Genet 2014 22: 8-9; advance online publication, September 11, 2013; 10.1038/ejhg.2013.202

A non-genetic, epigenetic-like mechanism of telomere length inheritance?

Tim De Meyer, Katrien Vandepitte, Simon Denil, Marc L De Buyzere, Ernst R Rietzschel and Sofie Bekaert

Eur J Hum Genet 2014 22: 10-11; advance online publication, October 23, 2013; 10.1038/ejhg.2013.255

Policy

A framework to start the debate on neonatal screening policies in the EU: an Expert Opinion Document^EJHGOPEN

Martina C Cornel, Tessel Rigter, Stephanie S Weinreich, Peter Burgard, Georg F Hoffmann, Martin Lindner, J Gerard Loeber, Kathrin Rupp, Domenica Taruscio and Luciano Vittozzi

Eur J Hum Genet 2014 22: 12-17; advance online publication, May 8, 2013; 10.1038/ejhg.2013.90

Articles

A qualitative exploration of mothers’ and fathers’ experiences of having a child with Klinefelter syndrome and the process of reaching this diagnosis

Elyssia Bourke, Pamela Snow, Amy Herlihy, David Amor and Sylvia Metcalfe

Eur J Hum Genet 2014 22: 18-24; advance online publication, May 22, 2013; 10.1038/ejhg.2013.102

Criteria for fairly allocating scarce health-care resources to genetic tests: which matter most?

Wolf H Rogowski, Scott D Grosse, Jörg Schmidtke and Georg Marckmann

Eur J Hum Genet 2014 22: 25-31; advance online publication, August 7, 2013; 10.1038/ejhg.2013.172

Analysis of all subunits, SDHA, SDHB, SDHC, SDHD, of the succinate dehydrogenase complex in KIT/PDGFRA wild-type GIST

Maria A Pantaleo, Annalisa Astolfi, Milena Urbini, Margherita Nannini, Paola Paterini, Valentina Indio, Maristella Saponara, Serena Formica, Claudio Ceccarelli, Rita Casadio, Giulio Rossi, Federica Bertolini, Donatella Santini, Maria G Pirini, Michelangelo Fiorentino, Umberto Basso and Guido Biasco on behalf of GIST Study Group

Eur J Hum Genet 2014 22: 32-39; advance online publication, April 24, 2013; 10.1038/ejhg.2013.80

Rare copy number variation in cerebral palsy

Gai McMichael, Santhosh Girirajan, Andres Moreno-De-Luca, Jozef Gecz, Chloe Shard, Lam Son Nguyen, Jillian Nicholl, Catherine Gibson, Eric Haan, Evan Eichler, Christa Lese Martin and Alastair MacLennan

Eur J Hum Genet 2014 22: 40-45; advance online publication, May 22, 2013; 10.1038/ejhg.2013.93

CHEK2*1100delC homozygosity in the Netherlands—prevalence and risk of breast and lung cancer

Petra EA Huijts, Antoinette Hollestelle, Brunilda Balliu, Jeanine J Houwing-Duistermaat, Caro M Meijers, Jannet C Blom, Bahar Ozturk, Elly MM Krol-Warmerdam, Juul Wijnen, Els MJJ Berns, John WM Martens, Caroline Seynaeve, Lambertus A Kiemeney, Henricus F van der Heijden, Rob AEM Tollenaar, Peter Devilee and Christi J van Asperen

Eur J Hum Genet 2014 22: 46-51; advance online publication, May 8, 2013; 10.1038/ejhg.2013.85

Large deletions encompassing the TCOF1 and CAMK2A genes are responsible for Treacher Collins syndrome with intellectual disability

Marie Vincent, Corinne Collet, Alain Verloes, Laetitia Lambert, Christian Herlin, Catherine Blanchet, Elodie Sanchez, Séverine Drunat, Jacqueline Vigneron, Jean-Louis Laplanche, Jacques Puechberty, Pierre Sarda and David Geneviève

Eur J Hum Genet 2014 22: 52-56; advance online publication, May 22, 2013; 10.1038/ejhg.2013.98

Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder

Sureni V Mullegama, Jill A Rosenfeld, Carmen Orellana, Bregje W M van Bon, Sara Halbach, Elena A Repnikova, Lauren Brick, Chumei Li, Lucie Dupuis, Monica Rosello, Swaroop Aradhya, D James Stavropoulos, Kandamurugu Manickam, Elyse Mitchell, Jennelle C Hodge, Michael E Talkowski, James F Gusella, Kory Keller, Jonathan Zonana, Stuart Schwartz, Robert E Pyatt, Darrel J Waggoner, Lisa G Shaffer, Angela E Lin, Bert B A de Vries, Roberto Mendoza-Londono and Sarah H Elsea

Eur J Hum Genet 2014 22: 57-63; advance online publication, May 1, 2013; 10.1038/ejhg.2013.67

Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits

Carmela Fusco, Lucia Micale, Bartolomeo Augello, Maria Teresa Pellico, Deny Menghini, Paolo Alfieri, Maria Cristina Digilio, Barbara Mandriani, Massimo Carella, Orazio Palumbo, Stefano Vicari and Giuseppe Merla

Eur J Hum Genet 2014 22: 64-70; advance online publication, June 12, 2013; 10.1038/ejhg.2013.101

Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders

Caroline Nava, Boris Keren, Cyril Mignot, Agnès Rastetter, Sandra Chantot-Bastaraud, Anne Faudet, Eric Fonteneau, Claire Amiet, Claudine Laurent, Aurélia Jacquette, Sandra Whalen, Alexandra Afenjar, Didier Périsse, Diane Doummar, Nathalie Dorison, Marion Leboyer, Jean-Pierre Siffroi, David Cohen, Alexis Brice, Delphine Héron and Christel Depienne

Eur J Hum Genet 2014 22: 71-78; advance online publication, May 1, 2013; 10.1038/ejhg.2013.88

Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing^EJHGOPEN

Joanna Wiszniewska, Weimin Bi, Chad Shaw, Pawel Stankiewicz, Sung-Hae L Kang, Amber N Pursley, Seema Lalani, Patricia Hixson, Tomasz Gambin, Chun-hui Tsai, Hans-Georg Bock, Maria Descartes, Frank J Probst, Fernando Scaglia, Arthur L Beaudet, James R Lupski, Christine Eng, Sau Wai Cheung, Carlos Bacino and Ankita Patel

Eur J Hum Genet 2014 22: 79-87; advance online publication, May 22, 2013; 10.1038/ejhg.2013.77

Pre-symptomatic genetic testing for inherited cardiac conditions: a qualitative exploration of psychosocial and ethical implications

Elizabeth Ormondroyd, Stephanie Oates, Michael Parker, Edward Blair and Hugh Watkins

Eur J Hum Genet 2014 22: 88-93; advance online publication, May 1, 2013; 10.1038/ejhg.2013.81

The KCNJ8-S422L variant previously associated with J-wave syndromes is found at an increased frequency in Ashkenazi Jews

Krishna R Veeramah, Tatiana M Karafet, Daniel Wolf, Ricardo A Samson and Michael F Hammer

Eur J Hum Genet 2014 22: 94-98; advance online publication, May 1, 2013; 10.1038/ejhg.2013.78

Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies

Nicola Glöckle, Susanne Kohl, Julia Mohr, Tim Scheurenbrand, Andrea Sprecher, Nicole Weisschuh, Antje Bernd, Günther Rudolph, Max Schubach, Charlotte Poloschek, Eberhart Zrenner, Saskia Biskup, Wolfgang Berger, Bernd Wissinger and John Neidhardt

Eur J Hum Genet 2014 22: 99-104; advance online publication, April 17, 2013; 10.1038/ejhg.2013.72

Neurodevelopmental disorders among individuals with duplication of 4p13 to 4p12 containing a GABA_A receptor subunit gene cluster

Michelle B Polan, Matthew T Pastore, Katherine Steingass, Sayaka Hashimoto, Devon L Thrush, Robert Pyatt, Shalini Reshmi, Julie M Gastier-Foster, Caroline Astbury and Kim L McBride

Eur J Hum Genet 2014 22: 105-109; advance online publication, May 22, 2013; 10.1038/ejhg.2013.99

Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMD/BMD: a multi-population diagnostic study

Xiaoming Wei, Yi Dai, Ping Yu, Ning Qu, Zhangzhang Lan, Xiafei Hong, Yan Sun, Guanghui Yang, Shuqi Xie, Quan Shi, Hanlin Zhou, Qian Zhu, Yuxing Chu, Fengxia Yao, Jinming Wang, Jingni He, Yun Yang, Yu Liang, Yi Yang, Ming Qi, Ling Yang, Wei Wang, Haitao Wu, Jing Duan, Cheng Shen, Jun Wang, Liying Cui and Xin Yi

Eur J Hum Genet 2014 22: 110-118; advance online publication, June 12, 2013; 10.1038/ejhg.2013.82

S151A δ-sarcoglycan mutation causes a mild phenotype of cardiomyopathy in mice

Désirée Rutschow, Ralf Bauer, Caroline Göhringer, Raffi Bekeredjian, Stefanie Schinkel, Volker Straub, Michael Koenen, Dieter Weichenhan, Hugo A Katus and Oliver J Müller

Eur J Hum Genet 2014 22: 119-125; advance online publication, May 22, 2013; 10.1038/ejhg.2013.97

Kernel canonical correlation analysis for assessing gene–gene interactions and application to ovarian cancer^EJHGOPEN

Nicholas B Larson, Gregory D Jenkins, Melissa C Larson, Robert A Vierkant, Thomas A Sellers, Catherine M Phelan, Joellen M Schildkraut, Rebecca Sutphen, Paul P D Pharoah, Simon A Gayther, Nicolas Wentzensen, Ovarian Cancer Association Consortium, Ellen L Goode and Brooke L Fridley

Eur J Hum Genet 2014 22: 126-131; advance online publication, April 17, 2013; 10.1038/ejhg.2013.69

Short Reports

Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta^EJHGOPEN

James A Poulter, Walid El-Sayed, Roger C Shore, Jennifer Kirkham, Chris F Inglehearn and Alan J Mighell

Eur J Hum Genet 2014 22: 132-135; advance online publication, May 1, 2013; 10.1038/ejhg.2013.76

Somatic mosaicism in trichorhinophalangeal syndrome: a lesson for genetic counseling

Carole Corsini, Martin Gencik, Marjolaine Willems, Eva Decker, Elodie Sanchez, Jacques Puechberty, Anouck Schneider, Manon Girard, Patrick Edery, Patricia Bretonnes, Jérôme Cottalorda, Geneviève Lefort, Claire Jeandel, Pierre Sarda and David Genevieve

Eur J Hum Genet 2014 22: 136-139; advance online publication, April 10, 2013; 10.1038/ejhg.2013.56

A novel ALMS1 splice mutation in a non-obese juvenile-onset insulin-dependent syndromic diabetic patient

May Sanyoura, Cédric Woudstra, George Halaby, Patrick Baz, Valérie Senée, Pierre-Jean Guillausseau, Pierre Zalloua and Cécile Julier

Eur J Hum Genet 2014 22: 140-143; advance online publication, May 8, 2013; 10.1038/ejhg.2013.87

Phenotype–Genotype Integrator (PheGenI): synthesizing genome-wide association study (GWAS) data with existing genomic resources

Erin M Ramos, Douglas Hoffman, Heather A Junkins, Donna Maglott, Lon Phan, Stephen T Sherry, Mike Feolo and Lucia A Hindorff

Eur J Hum Genet 2014 22: 144-147; advance online publication, May 22, 2013; 10.1038/ejhg.2013.96

A modified two-stage approach for family-based genome-wide association studies

Weijun Ma, Ying Zhou, Yajing Zhou, Lili Chen and Zhen Gu

Eur J Hum Genet 2014 22: 148-151; advance online publication, May 22, 2013; 10.1038/ejhg.2013.105

Clinical Utility Gene Cards

Clinical utility gene card for: Johanson–Blizzard syndrome

Maja Sukalo, Julia Mayerle and Martin Zenker

Eur J Hum Genet 2014 22: ; advance online publication, May 8, 2013; 10.1038/ejhg.2013.65

Clinical utility gene card for: Catecholaminergic polymorphic ventricular tachycardia (CPVT)

Carlo Napolitano, Raffaella Bloise, Mirella Memmi and Silvia Giuliana Priori

Eur J Hum Genet 2014 22: ; advance online publication, April 3, 2013; 10.1038/ejhg.2013.55

Corrigenda

In vitro antisense therapeutics for a deep intronic mutation causing Neurofibromatosis type 2

Elisabeth Castellanos, Imma Rosas, Ares Solanes, Isabel Bielsa, Conxi Lázaro, Cristina Carrato, Cristina Hostalot, Pepe Prades, Francesc Roca-Ribas and Ignacio Blanco Eduard Serra on behalf of the NF2 Multidisciplinary Clinics HUGTiP-ICO-IMPPC

Eur J Hum Genet 2014 22: 153; 10.1038/ejhg.2013.224

Return of whole-genome sequencing results in paediatric research: a statement of the P³G international paediatrics platform

Bartha Maria Knoppers, Denise Avard and Karine Sénécal Ma’n H Zawati along with the P³G International Paediatrics Platform members

Eur J Hum Genet 2014 22: 153-154; 10.1038/ejhg.2013.225

SHAVE: shrinkage estimator measured for multiple visits increases power in GWAS of quantitative traits

Osorio D Meirelles, Jun Ding, Toshiko Tanaka, Serena Sanna, Hsih-Te Yang, Dawood B Dudekula, Francesco Cucca, Luigi Ferrucci, Goncalo Abecasis and David Schlessinger

Eur J Hum Genet 2014 22: 154; 10.1038/ejhg.2013.218