The EDGE

EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver–Russell and Beckwith–Wiedemann syndrome^EJHGOPEN

Katja Eggermann, Jet Bliek, Frédéric Brioude, Elizabeth Algar, Karin Buiting, Silvia Russo, Zeynep Tümer, David Monk, Gudrun Moore, Thalia Antoniadi, Fiona Macdonald, Irène Netchine, Paolo Lombardi, Lukas Soellner, Matthias Begemann, Dirk Prawitt, Eamonn R Maher, Marcel Mannens, Andrea Riccio, Rosanna Weksberg, Pablo Lapunzina, Karen Grønskov, Deborah JG Mackay and Thomas Eggermann

Eur J Hum Genet 2016 24: 1377-1387; advance online publication, May 11, 2016; 10.1038/ejhg.2016.45

Review

Nucleoporin genes in human diseases

Valeria Nofrini, Danika Di Giacomo and Cristina Mecucci

Eur J Hum Genet 2016 24: 1388-1395; advance online publication, April 13, 2016; 10.1038/ejhg.2016.25

Articles

22 Years of predictive testing for Huntington’s disease: the experience of the UK Huntington’s Prediction Consortium

Sheharyar S Baig, Mark Strong, Elisabeth Rosser, Nicola V Taverner, Ruth Glew, Zosia Miedzybrodzka, Angus Clarke, David Craufurd, UK Huntington’s Disease Prediction Consortium and Oliver W Quarrell

Eur J Hum Genet 2016 24: 1396-1402; advance online publication, May 11, 2016; 10.1038/ejhg.2016.36

‘You should at least ask’. The expectations, hopes and fears of rare disease patients on large-scale data and biomaterial sharing for genomics research

Pauline McCormack, Anna Kole, Sabina Gainotti, Deborah Mascalzoni, Caron Molster, Hanns Lochmüller and Simon Woods

Eur J Hum Genet 2016 24: 1403-1408; advance online publication, April 6, 2016; 10.1038/ejhg.2016.30

The effect of a decision aid on informed decision-making in the era of non-invasive prenatal testing: a randomised controlled trial

Lean Beulen, Michelle van den Berg, Brigitte HW Faas, Ilse Feenstra, Michiel Hageman, John MG van Vugt and Mireille N Bekker

Eur J Hum Genet 2016 24: 1409-1416; advance online publication, May 18, 2016; 10.1038/ejhg.2016.39

Population-based preconception carrier screening: how potential users from the general population view a test for 50 serious diseases^EJHGOPEN

Mirjam Plantinga, Erwin Birnie, Kristin M Abbott, Richard J Sinke, Anneke M Lucassen, Juliette Schuurmans, Seyma Kaplan, Marian A Verkerk, Adelita V Ranchor and Irene M van Langen

Eur J Hum Genet 2016 24: 1417-1423; advance online publication, May 11, 2016; 10.1038/ejhg.2016.43

Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations

Rachel C Wiltink, Michelle E Kruijshaar, Rick van Minkelen, Willem Onkenhout, Frans W Verheijen, Evelien A Kemper, Francjan J van Spronsen, Ans T van der Ploeg, Klary E Niezen-Koning, Jasper J Saris and Monique Williams

Eur J Hum Genet 2016 24: 1424-1429; advance online publication, June 22, 2016; 10.1038/ejhg.2016.65

Mutation of KREMEN1, a modulator of Wnt signaling, is responsible for ectodermal dysplasia including oligodontia in Palestinian families

Yasmin A Issa, Lara Kamal, Amal Abu Rayyan, Dima Dweik, Sarah Pierce, Ming K Lee, Mary-Claire King, Tom Walsh and Moien Kanaan

Eur J Hum Genet 2016 24: 1430-1435; advance online publication, April 6, 2016; 10.1038/ejhg.2016.29

Expansion of phenotype and genotypic data in CRB2-related syndrome

Ryan E Lamont, Wen-Hann Tan, A Micheil Innes, Jillian S Parboosingh, Dina Schneidman-Duhovny, Aleksandar Rajkovic, John Pappas, Pablo Altschwager, Stephanie DeWard, Anne Fulton, Kathryn J Gray, Max Krall, Lakshmi Mehta, Lance H Rodan, Devereux N Saller, Jr, Deanna Steele, Deborah Stein, Svetlana A Yatsenko, François P Bernier and Anne M Slavotinek

Eur J Hum Genet 2016 24: 1436-1444; advance online publication, March 23, 2016; 10.1038/ejhg.2016.24

The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions

Ramesh Reddy, Ngoc M P Nguyen, Guillaume Sarrabay, Maryam Rezaei, Mayra C G Rivas, Aysenur Kavasoglu, Hakan Berkil, Alaa Elshafey, Kristin P Nunez, Hélène Dreyfus, Merviel Philippe, Zahra Hadipour, Asude Durmaz, Erin E Eaton, Brittany Schubert, Volkan Ulker, Fatemeh Hadipour, Fatemeh Ahmadpour, Isabelle Touitou, Majid Fardaei and Rima Slim

Eur J Hum Genet 2016 24: 1445-1452; advance online publication, March 9, 2016; 10.1038/ejhg.2016.9

The sub-nucleolar localization of PHF6 defines its role in rDNA transcription and early processing events^EJHGOPEN

Matthew A M Todd, Michael S Huh and David J Picketts

Eur J Hum Genet 2016 24: 1453-1459; advance online publication, May 11, 2016; 10.1038/ejhg.2016.40

Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene–disease associations and unanticipated rare disorders^EJHGOPEN

Bart P van de Warrenburg, Meyke I Schouten, Susanne T de Bot, Sascha Vermeer, Rowdy Meijer, Maartje Pennings, Christian Gilissen, Michèl AAP Willemsen, Hans Scheffer and Erik-Jan Kamsteeg

Eur J Hum Genet 2016 24: 1460-1466; advance online publication, May 11, 2016; 10.1038/ejhg.2016.42

Identification of variants in MBNL1 in patients with a myotonic dystrophy-like phenotype

Mirjam Larsen, Wolfram Kress, Benedikt Schoser, Ute Hehr, Clemens R Müller and Simone Rost

Eur J Hum Genet 2016 24: 1467-1472; advance online publication, May 25, 2016; 10.1038/ejhg.2016.41

Enrichment of rare variants in population isolates: single AICDA mutation responsible for hyper-IgM syndrome type 2 in Finland^EJHGOPEN

Luca Trotta, Timo Hautala, Sari Hämäläinen, Jaana Syrjänen, Hanna Viskari, Henrikki Almusa, Maija Lepisto, Meri Kaustio, Kimmo Porkka, Aarno Palotie, Mikko Seppänen and Janna Saarela

Eur J Hum Genet 2016 24: 1473-1478; advance online publication, May 4, 2016; 10.1038/ejhg.2016.37

Whole-exome sequencing in an isolated population from the Dalmatian island of Vis^EJHGOPEN

Ana Jeroncic, Yasin Memari, Graham RS Ritchie, Audrey E Hendricks, Anja Kolb-Kokocinski, Angela Matchan, Veronique Vitart, Caroline Hayward, Ivana Kolcic, Dominik Glodzik, Alan F Wright, Igor Rudan, Harry Campbell, Richard Durbin, Ozren Polašek, Eleftheria Zeggini and Vesna Boraska Perica

Eur J Hum Genet 2016 24: 1479-1487; advance online publication, April 6, 2016; 10.1038/ejhg.2016.23

Genetic variants in RBFOX3 are associated with sleep latency

Najaf Amin, Karla V Allebrandt, Ashley van der Spek, Bertram Müller-Myhsok, Karin Hek, Maris Teder-Laving, Caroline Hayward, Tõnu Esko, Josine G van Mill, Hamdi Mbarek, Nathaniel F Watson, Scott A Melville, Fabiola M Del Greco, Enda M Byrne, Edwin Oole, Ivana Kolcic, Ting-hsu Chen, Daniel S Evans, Josef Coresh, Nicole Vogelzangs, Juha Karjalainen, Gonneke Willemsen, Sina A Gharib, Lina Zgaga, Evelin Mihailov, Katie L Stone, Harry Campbell, Rutger WW Brouwer, Ayse Demirkan, Aaron Isaacs, Zoran Dogas, Kristin D Marciante, Susan Campbell, Fran Borovecki, Annemarie I Luik, Man Li, Jouke Jan Hottenga, Jennifer E Huffman, Mirjam CGN van den Hout, Steven R Cummings, Yurii S Aulchenko, Philip R Gehrman, André G Uitterlinden, Heinz-Erich Wichmann, Martina Müller-Nurasyid, Rudolf SN Fehrmann, Grant W Montgomery, Albert Hofman, Wen Hong Linda Kao, Ben A Oostra, Alan F Wright, Jacqueline M Vink, James F Wilson, Peter P Pramstaller, Andrew A Hicks, Ozren Polasek, Naresh M Punjabi, Susan Redline, Bruce M Psaty, Andrew C Heath, Martha Merrow, Gregory J Tranah, Daniel J Gottlieb, Dorret I Boomsma, Nicholas G Martin, Igor Rudan, Henning Tiemeier, Wilfred FJ van IJcken, Brenda W Penninx, Andres Metspalu, Thomas Meitinger, Lude Franke, Till Roenneberg and Cornelia M van Duijn

Eur J Hum Genet 2016 24: 1488-1495; advance online publication, May 4, 2016; 10.1038/ejhg.2016.31

Short Reports

Unsolicited findings of next-generation sequencing for tumor analysis within a Dutch consortium: clinical daily practice reconsidered

Rhodé M Bijlsma, Annelien L Bredenoord, Christa G Gadellaa-Hooijdonk, Martijn PJ Lolkema, Stefan Sleijfer, Emile E Voest, Margreet GEM Ausems and Neeltje Steeghs

Eur J Hum Genet 2016 24: 1496-1500; advance online publication, April 13, 2016; 10.1038/ejhg.2016.27

The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer^EJHGOPEN

Clara Esteban-Jurado, Sebastià Franch-Expósito, Jenifer Muñoz, Teresa Ocaña, Sabela Carballal, Maria López-Cerón, Miriam Cuatrecasas, Maria Vila-Casadesús, Juan José Lozano, Enric Serra, Sergi Beltran, The EPICOLON Consortium, Alejandro Brea-Fernández, Clara Ruiz-Ponte, Antoni Castells, Luis Bujanda, Pilar Garre, Trinidad Caldés, Joaquín Cubiella, Francesc Balaguer and Sergi Castellví-Bel

Eur J Hum Genet 2016 24: 1501-1505; advance online publication, May 11, 2016; 10.1038/ejhg.2016.44

Somatically acquired structural genetic differences: a longitudinal study of elderly Danish twins

Kristina Magaard Koldby, Marianne Nygaard, Kaare Christensen and Lene Christiansen

Eur J Hum Genet 2016 24: 1506-1510; advance online publication, April 20, 2016; 10.1038/ejhg.2016.34

Somatic mosaicism due to a reversion variant causing hemi-atrophy: a novel variant of dystrophinopathy

Jaya Punetha, Simin Mansoor, Tulio E Bertorini, Akanchha Kesari, Kristy J Brown and Eric P Hoffman

Eur J Hum Genet 2016 24: 1511-1514; advance online publication, March 9, 2016; 10.1038/ejhg.2016.22

Corrigenda

Genetic and biochemical study of dual hereditary jaundice: Dubin–Johnson and Gilbert’s syndromes. Haplotyping and founder effect of deletion in ABCC2

Lenka Slachtova, Ondrej Seda, Jana Behunova, Martin Mistrik and Pavel Martasek

Eur J Hum Genet 2016 24: 1515; 10.1038/ejhg.2016.51

Guidelines for diagnostic next-generation sequencing

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: 1515; 10.1038/ejhg.2016.63

22 Years of predictive testing for Huntington’s disease: the experience of the UK Huntington’s Prediction Consortium

Sheharyar S Baig, Mark Strong, Elisabeth Rosser, Nicola V Taverner, Ruth Glew, Zosia Miedzybrodzka, Angus Clarke, David Craufurd, UK Huntington's Disease Prediction Consortium and Oliver W Quarrell

Eur J Hum Genet 2016 24: 1515; 10.1038/ejhg.2016.81

The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions

Ramesh Reddy, Ngoc M P Nguyen, Guillaume Sarrabay, Maryam Rezaei, Mayra C G Rivas, Aysenur Kavasoglu, Hakan Berkil, Alaa Elshafey, Ebtesam Abdalla, Kristin P Nunez, Hélène Dreyfus, Merviel Philippe, Zahra Hadipour, Asude Durmaz, Erin E Eaton, Brittany Schubert, Volkan Ulker, Fatemeh Hadipour, Isabelle Touitou, Majid Fardaei and Rima Slim

Eur J Hum Genet 2016 24: 1516; 10.1038/ejhg.2016.96