The EDGE

Genetic discovery in multi-ethnic populations

Matthew Traylor and Cathryn M Lewis

Eur J Hum Genet 2016 24: 1097-1098; advance online publication, May 4, 2016; 10.1038/ejhg.2016.38

Review

A decision tool to guide the ethics review of a challenging breed of emerging genomic projects

Yann Joly, Derek So, Gladys Osien, Laura Crimi, Martin Bobrow, Don Chalmers, Susan E Wallace, Nikolajs Zeps and Bartha Knoppers

Eur J Hum Genet 2016 24: 1099-1103; advance online publication, January 20, 2016; 10.1038/ejhg.2015.279

Articles

Post-mortem testing; germline BRCA1/2 variant detection using archival FFPE non-tumor tissue. A new paradigm in genetic counseling^EJHGOPEN

Annabeth Høgh Petersen, Mads Malik Aagaard, Henriette Roed Nielsen, Karina Dahl Steffensen, Marianne Waldstrøm and Anders Bojesen

Eur J Hum Genet 2016 24: 1104-1111; advance online publication, January 6, 2016; 10.1038/ejhg.2015.268

High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood

Marie Collet, Zahra Assouline, Damien Bonnet, Marlène Rio, Franck Iserin, Daniel Sidi, Alice Goldenberg, Caroline Lardennois, Metodi Dimitrov Metodiev, Birgit Haberberger, Tobias Haack, Arnold Munnich, Holger Prokisch and Agnès Rötig

Eur J Hum Genet 2016 24: 1112-1116; advance online publication, December 16, 2015; 10.1038/ejhg.2015.264

A novel splicing mutation in the IQSEC2 gene that modulates the phenotype severity in a family with intellectual disability

Irene Madrigal, Maria Isabel Alvarez-Mora, Jordi Rosell, Laia Rodríguez-Revenga, Olof Karlberg, Sascha Sauer, Ann-Christine Syvänen and Montserrat Mila

Eur J Hum Genet 2016 24: 1117-1123; advance online publication, January 6, 2016; 10.1038/ejhg.2015.267

Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia

Hélène Cavé, Aurélie Caye, Nehla Ghedira, Yline Capri, Nathalie Pouvreau, Natacha Fillot, Aurélien Trimouille, Cédric Vignal, Odile Fenneteau, Yves Alembik, Jean-Luc Alessandri, Patricia Blanchet, Odile Boute, Patrice Bouvagnet, Albert David, Anne Dieux Coeslier, Bérénice Doray, Olivier Dulac, Valérie Drouin-Garraud, Marion Gérard, Delphine Héron, Bertrand Isidor, Didier Lacombe, Stanislas Lyonnet, Laurence Perrin, Marlène Rio, Joëlle Roume, Sylvie Sauvion, Annick Toutain, Catherine Vincent-Delorme, Marjorie Willems, Clarisse Baumann and Alain Verloes

Eur J Hum Genet 2016 24: 1124-1131; advance online publication, January 13, 2016; 10.1038/ejhg.2015.273

Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomelia

Ricarda Flöttmann, Anna Sowinska-Seidler, Julie Lavie, Jean-François Chateil, Didier Lacombe, Stefan Mundlos, Denise Horn and Malte Spielmann

Eur J Hum Genet 2016 24: 1132-1136; advance online publication, January 6, 2016; 10.1038/ejhg.2015.266

Heritability of non-speech auditory processing skills

Carmen C Brewer, Christopher K Zalewski, Kelly A King, Oliver Zobay, Alison Riley, Melanie A Ferguson, Jonathan E Bird, Margaret M McCabe, Linda J Hood, Dennis Drayna, Andrew J Griffith, Robert J Morell, Thomas B Friedman and David R Moore

Eur J Hum Genet 2016 24: 1137-1144; advance online publication, February 17, 2016; 10.1038/ejhg.2015.277

De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila

Dorien Lugtenberg, Margot R F Reijnders, Michaela Fenckova, Emilia K Bijlsma, Raphael Bernier, Bregje W M van Bon, Eric Smeets, Anneke T Vulto-van Silfhout, Danielle Bosch, Evan E Eichler, Heather C Mefford, Gemma L Carvill, Ernie M H F Bongers, Janneke HM Schuurs-Hoeijmakers, Claudia A Ruivenkamp, Gijs W E Santen, Arn M J M van den Maagdenberg, Cacha M P C D Peeters-Scholte, Sabine Kuenen, Patrik Verstreken, Rolph Pfundt, Helger G Yntema, Petra F de Vries, Joris A Veltman, Alexander Hoischen, Christian Gilissen, Bert B A de Vries, Annette Schenck, Tjitske Kleefstra and Lisenka E L M Vissers

Eur J Hum Genet 2016 24: 1145-1153; advance online publication, January 13, 2016; 10.1038/ejhg.2015.282

Genes for spinocerebellar ataxia with blindness and deafness (SCABD/SCAR3, MIM# 271250 and SCABD2)

Claire Guissart, Nathalie Drouot, Ibrahim Oncel, Bruno Leheup, Ruth Gershoni-Barush, Jean Muller, Sacha Ferdinandusse, Lise Larrieu, Mathieu Anheim, Elif Acar Arslan, Mireille Claustres, Christine Tranchant, Haluk Topaloglu and Michel Koenig

Eur J Hum Genet 2016 24: 1154-1159; advance online publication, December 16, 2015; 10.1038/ejhg.2015.259

Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction

Hideki Itoh, Myriam Berthet, Véronique Fressart, Isabelle Denjoy, Svetlana Maugenre, Didier Klug, Yuka Mizusawa, Takeru Makiyama, Nynke Hofman, Birgit Stallmeyer, Sven Zumhagen, Wataru Shimizu, Arthur A M Wilde, Eric Schulze-Bahr, Minoru Horie, Sophie Tezenas du Montcel and Pascale Guicheney

Eur J Hum Genet 2016 24: 1160-1166; advance online publication, December 16, 2015; 10.1038/ejhg.2015.257

Genomic complexity of urothelial bladder cancer revealed in urinary cfDNA^EJHGOPEN

Fiona S Togneri, Douglas G Ward, Joseph M Foster, Adam J Devall, Paula Wojtowicz, Sofia Alyas, Fabiana Ramos Vasques, Assa Oumie, Nicholas D James, K K Cheng, Maurice P Zeegers, Nayneeta Deshmukh, Brendan O'Sullivan, Philippe Taniere, Karen G Spink, Dominic J McMullan, Mike Griffiths and Richard T Bryan

Eur J Hum Genet 2016 24: 1167-1174; advance online publication, January 13, 2016; 10.1038/ejhg.2015.281

Multi-ethnic genome-wide association study identifies novel locus for type 2 diabetes susceptibility^EJHGOPEN

James P Cook and Andrew P Morris

Eur J Hum Genet 2016 24: 1175-1180; advance online publication, May 18, 2016; 10.1038/ejhg.2016.17

Rare variant associations with waist-to-hip ratio in European-American and African-American women from the NHLBI-Exome Sequencing Project

Mengyuan Kan, Paul L Auer, Gao T Wang, Kristine L Bucasas, Stanley Hooker, Alejandra Rodriguez, Biao Li, Jaclyn Ellis, L Adrienne Cupples, Yii-Der Ida Chen, Josée Dupuis, Caroline S Fox, Myron D Gross, Joshua D Smith, Nancy Heard-Costa, James B Meigs, James S Pankow, Jerome I Rotter, David Siscovick, James G Wilson, Jay Shendure, Rebecca Jackson, Ulrike Peters, Hua Zhong, Danyu Lin, Li Hsu, Nora Franceschini, Chris Carlson, Goncalo Abecasis, Stacey Gabriel, Michael J Bamshad, David Altshuler, Deborah A Nickerson, Kari E North, Leslie A Lange, Alexander P Reiner, NHLBI-Exome Sequencing Project and Suzanne M Leal

Eur J Hum Genet 2016 24: 1181-1187; advance online publication, January 13, 2016; 10.1038/ejhg.2015.272

The effect of phenotypic outliers and non-normality on rare-variant association testing

Paul L Auer, Alex P Reiner and Suzanne M Leal

Eur J Hum Genet 2016 24: 1188-1194; advance online publication, January 6, 2016; 10.1038/ejhg.2015.270

Estimating time to the most recent common ancestor (TMRCA): comparison and application of eight methods

Jin Zhou and Yik-Ying Teo

Eur J Hum Genet 2016 24: 1195-1201; advance online publication, December 16, 2015; 10.1038/ejhg.2015.258

Short Reports

The (in)famous GWAS P-value threshold revisited and updated for low-frequency variants

João Fadista, Alisa K Manning, Jose C Florez and Leif Groop

Eur J Hum Genet 2016 24: 1202-1205; advance online publication, January 6, 2016; 10.1038/ejhg.2015.269

A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene

Katta Mohan Girisha, Fanny Kortüm, Hitesh Shah, Malik Alawi, Ashwin Dalal, Gandham SriLakshmi Bhavani and Kerstin Kutsche

Eur J Hum Genet 2016 24: 1206-1210; advance online publication, December 16, 2015; 10.1038/ejhg.2015.261

Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction

Ivana Matera, Marta Rusmini, Yiran Guo, Margherita Lerone, Jiankang Li, Jianguo Zhang, Marco Di Duca, Paolo Nozza, Manuela Mosconi, Alessio Pini Prato, Giuseppe Martucciello, Arrigo Barabino, Francesco Morandi, Roberto De Giorgio, Vincenzo Stanghellini, Roberto Ravazzolo, Marcella Devoto, Hakon Hakonarson and Isabella Ceccherini

Eur J Hum Genet 2016 24: 1211-1215; advance online publication, January 27, 2016; 10.1038/ejhg.2015.275

Prominent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related disease

Gina L O'Grady, Alan Ma, Deborah Sival, Monica T Y Wong, Tony Peduto, Manoj P Menezes, Helen Young, Leigh Waddell, Roula Ghaoui, Merrilee Needham, Monkol Lek, Kathryn N North, Daniel G MacArthur, Conny MA van Ravenswaaij-Arts and Nigel F Clarke

Eur J Hum Genet 2016 24: 1216-1219; advance online publication, January 27, 2016; 10.1038/ejhg.2015.276

Distal acroosteolysis, poikiloderma and joint stiffness: a novel laminopathy?

Wafaa Sewairi, Abdulrahman Assiri, Nisha Patel, Amal Alhashem and Fowzan S Alkuraya

Eur J Hum Genet 2016 24: 1220-1222; advance online publication, January 6, 2016; 10.1038/ejhg.2015.265

Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability

Muhammad Ansar, Abid Jan, Regie Lyn P Santos-Cortez, Xin Wang, Muhammad Suliman, Anushree Acharya, Rabia Habib, Izoduwa Abbe, Ghazanfar Ali, Kwanghyuk Lee, Joshua D Smith, University of Washington Center for Mendelian Genomics, Deborah A Nickerson, Jay Shendure, Michael J Bamshad, Wasim Ahmad and Suzanne M Leal

Eur J Hum Genet 2016 24: 1223-1227; advance online publication, December 23, 2015; 10.1038/ejhg.2015.260

The HLA-DQβ1 insertion is a strong achalasia risk factor and displays a geospatial north–south gradient among Europeans

Jessica Becker, Stephan L Haas, Anna Mokrowiecka, Justyna Wasielica-Berger, Zeeshan Ateeb, Jonna Bister, Peter Elbe, Marek Kowalski, Magdalena Gawron-Kiszka, Marek Majewski, Agata Mulak, Maria Janiak, Mira M Wouters, Till Schwämmle, Timo Hess, Lothar Veits, Stefan Niebisch, José L Santiago, Antonio Ruiz de León, Julio Pérez de la Serna, Elena Urcelay, Vito Annese, Anna Latiano, Uberto Fumagalli, Riccardo Rosati, Luigi Laghi, Rosario Cuomo, Frank Lenze, Giovanni Sarnelli, Michaela Müller, Burkhard HA von Rahden, Cisca Wijmenga, Hauke Lang, Kamila Czene, Per Hall, Paul IW de Bakker, Michael Vieth, Markus M Nöthen, Henning G Schulz, Krystian Adrych, Anita Gąsiorowska, Leszek Paradowski, Grzegorz Wallner, Guy E Boeckxstaens, Ines Gockel, Marek Hartleb, Srdjan Kostic, Anna Dziurkowska-Marek, Mats Lindblad, Magnus Nilsson, Michael Knapp, Anders Thorell, Tomasz Marek, Andrzej Dąbrowski, Ewa Małecka-Panas and Johannes Schumacher

Eur J Hum Genet 2016 24: 1228-1231; advance online publication, January 6, 2016; 10.1038/ejhg.2015.262

Clinical Utility Gene Cards

Clinical utility gene card for: Peters plus syndrome

Jaak Jaeken, Dirk J Lefeber and Gert Matthijs

Eur J Hum Genet 2016 24: ; advance online publication, April 6, 2016; 10.1038/ejhg.2016.32

Clinical utility gene card for: Familial platelet disorder with associated myeloid malignancies

Tim Ripperger, Kiran Tawana, Christian Kratz, Brigitte Schlegelberger, Jude Fitzgibbon and Doris Steinemann

Eur J Hum Genet 2016 24: ; advance online publication, January 27, 2016; 10.1038/ejhg.2015.278

Clinical Utility Gene Card Update

Clinical utility gene card for: Meckel syndrome – update 2016

Carsten Bergmann, Valeska Frank and Riitta Salonen

Eur J Hum Genet 2016 24: ; advance online publication, April 20, 2016; 10.1038/ejhg.2016.33

Book Review

Gene control

Moyra Smith

Eur J Hum Genet 2016 24: 1233; 10.1038/ejhg.2015.255