The EDGE

New EuroGentest/ESHG guidelines and a new clinical utility gene card format for NGS-based testing

Gert Matthijs, Anna Dierking and Jörg Schmidtke

Eur J Hum Genet 2016 24: 1; advance online publication, October 28, 2015; 10.1038/ejhg.2015.229

Policy

Guidelines for diagnostic next-generation sequencing^EJHGOPEN

Gert Matthijs, Erika Souche, Mariëlle Alders, Anniek Corveleyn, Sebastian Eck, Ilse Feenstra, Valérie Race, Erik Sistermans, Marc Sturm, Marjan Weiss, Helger Yntema, Egbert Bakker, Hans Scheffer and Peter Bauer

Eur J Hum Genet 2016 24: 2-5; advance online publication, October 28, 2015; 10.1038/ejhg.2015.226

Guidelines for cytogenetic investigations in tumours

Rosalind J Hastings, Nick Bown, Maria G Tibiletti, Maria Debiec-Rychter, Roberta Vanni, Blanca Espinet, Nadine van Roy, Paul Roberts, Eva van den Berg-de-Ruiter, Alain Bernheim, Jacqueline Schoumans, Steve Chatters, Zuzana Zemanova, Marian Stevens-Kroef, Annet Simons, Sverre Heim, Marta Salido, Bauke Ylstra and David R Betts

Eur J Hum Genet 2016 24: 6-13; advance online publication, March 25, 2015; 10.1038/ejhg.2015.35

Articles

Motivations, concerns and preferences of personal genome sequencing research participants: Baseline findings from the HealthSeq project^EJHGOPEN

Saskia C Sanderson, Michael D Linderman, Sabrina A Suckiel, George A Diaz, Randi E Zinberg, Kadija Ferryman, Melissa Wasserstein, Andrew Kasarskis and Eric E Schadt

Eur J Hum Genet 2016 24: 14-20; advance online publication, June 3, 2015; 10.1038/ejhg.2015.118

Attitudes of nearly 7000 health professionals, genomic researchers and publics toward the return of incidental results from sequencing research^EJHGOPEN

Anna Middleton, Katherine I Morley, Eugene Bragin, Helen V Firth, Matthew E Hurles, Caroline F Wright and Michael Parker on behalf of the DDD study

Eur J Hum Genet 2016 24: 21-29; advance online publication, April 29, 2015; 10.1038/ejhg.2015.58

Regulating biobanking with children’s tissue: a legal analysis and the experts’ view

Elcke J Kranendonk, M Corrette Ploem and Raoul C M Hennekam

Eur J Hum Genet 2016 24: 30-36; advance online publication, April 15, 2015; 10.1038/ejhg.2015.59

The disruption of a novel limb cis-regulatory element of SHH is associated with autosomal dominant preaxial polydactyly-hypertrichosis

Florence Petit, Anne-Sophie Jourdain, Muriel Holder-Espinasse, Boris Keren, Joris Andrieux, Martine Duterque-Coquillaud, Nicole Porchet, Sylvie Manouvrier-Hanu and Fabienne Escande

Eur J Hum Genet 2016 24: 37-43; advance online publication, March 18, 2015; 10.1038/ejhg.2015.53

Nail–Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity

Jamal Ghoumid, Florence Petit, Muriel Holder-Espinasse, Anne-Sophie Jourdain, José Guerra, Anne Dieux-Coeslier, Martin Figeac, Nicole Porchet, Sylvie Manouvrier-Hanu and Fabienne Escande

Eur J Hum Genet 2016 24: 44-50; advance online publication, April 22, 2015; 10.1038/ejhg.2015.77

Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as a candidate gene for cleft palate

Jeroen Breckpot, Britt-Marie Anderlid, Yasemin Alanay, Moira Blyth, Afane Brahimi, Bénédicte Duban-Bedu, Odile Gozé, Helen Firth, Mustafa Cengiz Yakicier, Greet Hens, Maissa Rayyan, Eric Legius, Joris Robert Vermeesch and Koen Devriendt

Eur J Hum Genet 2016 24: 51-58; advance online publication, May 6, 2015; 10.1038/ejhg.2015.65

Collybistin binds and inhibits mTORC1 signaling: a potential novel mechanism contributing to intellectual disability and autism

Camila Oliveira Freitas Machado, Karina Griesi-Oliveira, Carla Rosenberg, Fernando Kok, Stephanie Martins, Maria Rita Passos-Bueno and Andrea Laurato Sertie

Eur J Hum Genet 2016 24: 59-65; advance online publication, April 22, 2015; 10.1038/ejhg.2015.69

Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on ‘black bone disease’ in Italy

Martina Nemethova, Jan Radvanszky, Ludevit Kadasi, David B Ascher, Douglas E V Pires, Tom L Blundell, Berardino Porfirio, Alessandro Mannoni, Annalisa Santucci, Lia Milucci, Silvia Sestini, Gianfranco Biolcati, Fiammetta Sorge, Caterina Aurizi, Robert Aquaron, Mohammed Alsbou, Charles Marques Lourenço, Kanakasabapathi Ramadevi, Lakshminarayan R Ranganath, James A Gallagher, Christa van Kan, Anthony K Hall, Birgitta Olsson, Nicolas Sireau, Hana Ayoob, Oliver G Timmis, Kim-Hanh Le Quan Sang, Federica Genovese, Richard Imrich, Jozef Rovensky, Rangan Srinivasaraghavan, Shruthi K Bharadwaj, Ronen Spiegel and Andrea Zatkova

Eur J Hum Genet 2016 24: 66-72; advance online publication, March 25, 2015; 10.1038/ejhg.2015.60

Are all the previously reported genetic variants in limb girdle muscular dystrophy genes pathogenic?

Giuseppina Di Fruscio, Arcomaria Garofalo, Margherita Mutarelli, Marco Savarese and Vincenzo Nigro

Eur J Hum Genet 2016 24: 73-77; advance online publication, April 22, 2015; 10.1038/ejhg.2015.76

Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2

Marlinde L van den Boogaard, Richard JFL Lemmers, Pilar Camaño, Patrick J van der Vliet, Nicol Voermans, Baziel GM van Engelen, Adolfo Lopez de Munain, Stephen J Tapscott, Nienke van der Stoep, Rabi Tawil and Silvère M van der Maarel

Eur J Hum Genet 2016 24: 78-85; advance online publication, March 18, 2015; 10.1038/ejhg.2015.55

A rare variant in MCF2L identified using exclusion linkage in a pedigree with premature atherosclerosis

Stephanie Maiwald, Mahdi M Motazacker, Julian C van Capelleveen, Suthesh Sivapalaratnam, Allard C van der Wal, Chris van der Loos, John J P Kastelein, Willem H Ouwehand, G Kees Hovingh, Mieke D Trip, Jaap D van Buul and Geesje M Dallinga-Thie

Eur J Hum Genet 2016 24: 86-91; advance online publication, April 22, 2015; 10.1038/ejhg.2015.70

Mutation in the 3’untranslated region of APP as a genetic determinant of cerebral amyloid angiopathy

Gaël Nicolas, David Wallon, Claudia Goupil, Anne-Claire Richard, Cyril Pottier, Véronique Dorval, Mariana Sarov-Rivière, Florence Riant, Dominique Hervé, Philippe Amouyel, Maelenn Guerchet, Bebene Ndamba-Bandzouzi, Pascal Mbelesso, Jean-François Dartigues, Jean-Charles Lambert, Pierre-Marie Preux, Thierry Frebourg, Dominique Campion, Didier Hannequin, Elisabeth Tournier-Lasserve, Sébastien S Hébert and Anne Rovelet-Lecrux

Eur J Hum Genet 2016 24: 92-98; advance online publication, April 1, 2015; 10.1038/ejhg.2015.61

Clinical relevance of 8q23, 15q13 and 18q21 SNP genotyping to evaluate colorectal cancer risk^EJHGOPEN

Stéphanie Baert-Desurmont, Françoise Charbonnier, Estelle Houivet, Lorena Ippolito, Jacques Mauillon, Marion Bougeard, Caroline Abadie, David Malka, Jacqueline Duffour, Françoise Desseigne, Chrystelle Colas, Pascal Pujol, Sophie Lejeune, Catherine Dugast, Bruno Buecher, Laurence Faivre, Dominique Leroux, Paul Gesta, Isabelle Coupier, Rosine Guimbaud, Pascaline Berthet, Sylvie Manouvrier, Estelle Cauchin, Fabienne Prieur, Pierre Laurent-Puig, Marine Lebrun, Philippe Jonveaux, Jean Chiesa, Olivier Caron, Marie-Emmanuelle Morin-Meschin, Florence Polycarpe-Osaer, Sophie Giraud, Aziz Zaanan, Delphine Bonnet, Ludovic Mansuy, Valérie Bonadona, Salima El Chehadeh, François Duhoux, Marion Gauthier-Villars, Jean-Christophe Saurin, Marie- Agnès Collonge-Rame, Laurence Brugières, Qing Wang, Brigitte Bressac-de Paillerets, Jean-Marc Rey, Christine Toulas, Marie-Pierre Buisine, Myriam Bronner, Joanna Sokolowska, Agnès Hardouin, Anne-Françoise Cailleux, Hakim Sebaoui, Julien Blot, Julie Tinat, Jacques Benichou and Thierry Frebourg

Eur J Hum Genet 2016 24: 99-105; advance online publication, April 15, 2015; 10.1038/ejhg.2015.72

Lipids, obesity and gallbladder disease in women: insights from genetic studies using the cardiovascular gene-centric 50K SNP array^EJHGOPEN

Santiago Rodriguez, Tom R Gaunt, Yiran Guo, Jie Zheng, Michael R Barnes, Weihang Tang, Fazal Danish, Andrew Johnson, Berta A Castillo, Yun R Li, Hakon Hakonarson, Sarah G Buxbaum, Tom Palmer, Michael Y Tsai, Leslie A Lange, Shah Ebrahim, George Davey Smith, Debbie A Lawlor, Aaron R Folsom, Ron Hoogeveen, Alex Reiner, Brendan Keating and Ian NM Day

Eur J Hum Genet 2016 24: 106-112; advance online publication, April 29, 2015; 10.1038/ejhg.2015.63

Leveraging ancestry to improve causal variant identification in exome sequencing for monogenic disorders

Robert Brown, Hane Lee, Ascia Eskin, Gleb Kichaev, Kirk E Lohmueller, Bruno Reversade, Stanley F Nelson and Bogdan Pasaniuc

Eur J Hum Genet 2016 24: 113-119; advance online publication, April 22, 2015; 10.1038/ejhg.2015.68

The relationship between surname frequency and Y chromosome variation in Spain

Conrado Martinez-Cadenas, Alejandro Blanco-Verea, Barbara Hernando, George BJ Busby, Maria Brion, Angel Carracedo, Antonio Salas and Cristian Capelli

Eur J Hum Genet 2016 24: 120-128; advance online publication, April 22, 2015; 10.1038/ejhg.2015.75

Short Reports

Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay

Hirotomo Saitsu, Ryoko Fukai, Bruria Ben-Zeev, Yasunari Sakai, Masakazu Mimaki, Nobuhiko Okamoto, Yasuhiro Suzuki, Yukifumi Monden, Hiroshi Saito, Barak Tziperman, Michiko Torio, Satoshi Akamine, Nagahisa Takahashi, Hitoshi Osaka, Takanori Yamagata, Kazuyuki Nakamura, Yoshinori Tsurusaki, Mitsuko Nakashima, Noriko Miyake, Masaaki Shiina, Kazuhiro Ogata and Naomichi Matsumoto

Eur J Hum Genet 2016 24: 129-134; advance online publication, May 13, 2015; 10.1038/ejhg.2015.92

STAG3 truncating variant as the cause of primary ovarian insufficiency^EJHGOPEN

Polona Le Quesne Stabej, Hywel J Williams, Chela James, Mehmet Tekman, Horia C Stanescu, Robert Kleta, Louise Ocaka, Francesco Lescai, Helen L Storr, Maria Bitner-Glindzicz, Chiara Bacchelli, Gerard S Conway and GOSgene

Eur J Hum Genet 2016 24: 135-138; advance online publication, June 10, 2015; 10.1038/ejhg.2015.107

Rare missense variants within a single gene form yin yang haplotypes

David Curtis

Eur J Hum Genet 2016 24: 139-141; advance online publication, April 22, 2015; 10.1038/ejhg.2015.74

Reanalysis of mGWAS results and in vitro validation show that lactate dehydrogenase interacts with branched-chain amino acid metabolism

Mattijs M Heemskerk, Vanessa JA van Harmelen, Ko Willems van Dijk and Jan Bert van Klinken

Eur J Hum Genet 2016 24: 142-145; advance online publication, May 27, 2015; 10.1038/ejhg.2015.106

Clinical Utility Gene Cards

Clinical utility gene card for: Hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches

Mine Arslan-Kirchner, Eloisa Arbustini, Catherine Boileau, Philippe Charron, Anne H Child, Gwenaelle Collod-Beroud, Julie De Backer, Anne De Paepe, Anna Dierking, Laurence Faivre, Sabine Hoffjan, Guillaume Jondeau, Britta Keyser, Bart Loeys, Karin Mayer, Peter N Robinson and Jörg Schmidtke

Eur J Hum Genet 2016 24: 146-150; advance online publication, October 28, 2015; 10.1038/ejhg.2015.225

Book Reviews

ADHD and Its Many Associated Problems

Alessandra Ferlini and Marcella Neri

Eur J Hum Genet 2016 24: 151; 10.1038/ejhg.2015.136

Autonomic Neurology

C Geoffrey Woods

Eur J Hum Genet 2016 24: 152; 10.1038/ejhg.2015.101

Corrigendum

Motivations, concerns and preferences of personal genome sequencing research participants: Baseline findings from the HealthSeq project

Saskia C Sanderson, Michael D Linderman, Sabrina A Suckiel, George A Diaz, Randi E Zinberg, Kadija Ferryman, Melissa Wasserstein, Andrew Kasarskis and Eric E Schadt

Eur J Hum Genet 2016 24: 153; advance online publication, October 28, 2015; 10.1038/ejhg.2015.179