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TABLE OF CONTENTS
| | | | Volume 25, Issue 5 (May 2017) |  | In this issue
 Policy
Letter
Articles
Short Reports
Book Reviews
Erratum
Also new
   AOP
| | | | Policy | Top | | European registration process for Clinical Laboratory Geneticists in genetic healthcareEJHGOPENThomas Liehr, Isabel M Carreira, Dilek Aktas, Egbert Bakker, Marta Rodríguez de Alba, Domenico A Coviello, Lina Florentin, Hans Scheffer and Martina Rincic on behalf of the Clinical Laboratory Geneticists Professional Branch Board, European Board of Medical Genetics, Vienna, Austria Eur J Hum Genet 2017 25: 515-519; advance online publication, March 8, 2017; 10.1038/ejhg.2017.25 Abstract | Full Text | | Letter | Top | | Recontacting in clinical genetics and genomic medicine? We need to talk about itDaniele Carrieri, Sandi Dheensa, Shane Doheny, Angus J Clarke, Peter D Turnpenny, Anneke M Lucassen and Susan E Kelly Eur J Hum Genet 2017 25: 520-521; advance online publication, February 8, 2017; 10.1038/ejhg.2017.8 Full Text | | Articles | Top | | Securing the use of existing sample collections for future human genetic researchGeorge Kanoungi, Peter Nürnberg and Michael Nothnagel Eur J Hum Genet 2017 25: 522-529; advance online publication, February 1, 2017; 10.1038/ejhg.2017.1 Abstract | Full Text | | | | Choices for return of primary and secondary genomic research results of 790 members of families with Mendelian diseaseKatie Fiallos, Carolyn Applegate, Debra JH Mathews, Juli Bollinger, Amanda L Bergner and Cynthia A James Eur J Hum Genet 2017 25: 530-537; advance online publication, March 8, 2017; 10.1038/ejhg.2017.21 Abstract | Full Text | | | | Prediction of years of life after diagnosis of breast cancer using omics and omic-by-treatment interactionsEJHGOPENAgustín González-Reymúndez, Gustavo de los Campos, Lucía Gutiérrez, Sophia Y Lunt and Ana I Vazquez Eur J Hum Genet 2017 25: 538-544; advance online publication, March 8, 2017; 10.1038/ejhg.2017.12 Abstract | Full Text | | | | tRNA N6-adenosine threonylcarbamoyltransferase defect due to KAE1/TCS3 (OSGEP) mutation manifest by neurodegeneration and renal tubulopathySimon Edvardson, Laurence Prunetti, Aiman Arraf, Drago Haas, Jo Marie Bacusmo, Jennifer F Hu, Asas Ta-Shma, Peter C Dedon, Valérie de Crécy-Lagard and Orly Elpeleg Eur J Hum Genet 2017 25: 545-551; advance online publication, March 8, 2017; 10.1038/ejhg.2017.30 Abstract | Full Text | | | | PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal featuresEJHGOPENKaren J Low, Morad Ansari, Rami Abou Jamra, Angus Clarke, Salima El Chehadeh, David R FitzPatrick, Mark Greenslade, Alex Henderson, Jane Hurst, Kory Keller, Paul Kuentz, Trine Prescott, Franziska Roessler, Kaja K Selmer, Michael C Schneider, Fiona Stewart, Katrina Tatton-Brown, Julien Thevenon, Magnus D Vigeland, Julie Vogt, Marjolaine Willems, Jonathan Zonana, D D D Study and Sarah F Smithson Eur J Hum Genet 2017 25: 552-559; advance online publication, March 22, 2017; 10.1038/ejhg.2017.27 Abstract | Full Text | | | | Loss of Function of KCNC1 is associated with intellectual disability without seizuresKarine Poirier, Géraldine Viot, Laura Lombardi, Clémence Jauny, Pierre Billuart and Thierry Bienvenu Eur J Hum Genet 2017 25: 560-564; advance online publication, February 1, 2017; 10.1038/ejhg.2017.3 Abstract | Full Text | | | | Two novel BMP-2 variants identified in patients with thoracic ossification of the ligamentum flavumXiaochen Qu, Zhongqiang Chen, Dongwei Fan, Shen Xiang, Chuiguo Sun, Yan Zeng, Weishi Li, Zhaoqing Guo, Qiang Qi, Woquan Zhong and Yun Jiang Eur J Hum Genet 2017 25: 565-571; advance online publication, February 1, 2017; 10.1038/ejhg.2017.2 Abstract | Full Text | | | | A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian populationStojan Perić, Jelena Nikodinović Glumac, Ana Töpf, Dušanka Savić-Pavićević, Lauren Phillips, Katherine Johnson, Marcus Cassop-Thompson, Liwen Xu, Marta Bertoli, Monkol Lek, Daniel MacArthur, Miloš Brkušanin, Sanja Milenković, Vedrana Milić Rašić, Bojan Banko, Ružica Maksimović, Hanns Lochmüller, Vidosava Rakočević Stojanović and Volker Straub Eur J Hum Genet 2017 25: 572-581; advance online publication, March 15, 2017; 10.1038/ejhg.2017.16 Abstract | Full Text | | | | Collagen synthesis disruption and downregulation of core elements of TGF-β, Hippo, and Wnt pathways in keratoconus corneasMichal Kabza, Justyna A Karolak, Malgorzata Rydzanicz, Michał W Szcześniak, Dorota M Nowak, Barbara Ginter-Matuszewska, Piotr Polakowski, Rafal Ploski, Jacek P Szaflik and Marzena Gajecka Eur J Hum Genet 2017 25: 582-590; advance online publication, February 1, 2017; 10.1038/ejhg.2017.4 Abstract | Full Text | | | | Diagnostic exome sequencing in 266 Dutch patients with visual impairmentEJHGOPENLonneke Haer-Wigman, Wendy AG van Zelst-Stams, Rolph Pfundt, L Ingeborgh van den Born, Caroline CW Klaver, Joke BGM Verheij, Carel B Hoyng, Martijn H Breuning, Camiel JF Boon, Anneke J Kievit, Virginie JM Verhoeven, Jan WR Pott, Suzanne CEH Sallevelt, Johanna M van Hagen, Astrid S Plomp, Hester Y Kroes, Stefan H Lelieveld, Jayne Y Hehir-Kwa, Steven Castelein, Marcel Nelen, Hans Scheffer, Dorien Lugtenberg, Frans PM Cremers, Lies Hoefsloot and Helger G Yntema Eur J Hum Genet 2017 25: 591-599; advance online publication, February 22, 2017; 10.1038/ejhg.2017.9 Abstract | Full Text | | | | Non-invasive prenatal diagnosis of beta-thalassemia by semiconductor sequencing: a feasibility study in the sardinian populationLuisella Saba, Maddalena Masala, Valentina Capponi, Giuseppe Marceddu, Matteo Massidda and Maria Cristina Rosatelli Eur J Hum Genet 2017 25: 600-607; advance online publication, March 8, 2017; 10.1038/ejhg.2017.26 Abstract | Full Text | | | | Coffee consumption is associated with DNA methylation levels of human bloodYu-Hsuan Chuang, Austin Quach, Devin Absher, Themistocles Assimes, Steve Horvath and Beate Ritz Eur J Hum Genet 2017 25: 608-616; advance online publication, February 15, 2017; 10.1038/ejhg.2016.175 Abstract | Full Text | | | | A fast and accurate method for detection of IBD shared haplotypes in genome-wide SNP dataDouglas W Bjelland, Uday Lingala, Piyush S Patel, Matt Jones and Matthew C Keller Eur J Hum Genet 2017 25: 617-624; advance online publication, February 8, 2017; 10.1038/ejhg.2017.6 Abstract | Full Text | | | | Prevalence of congenital amusiaIsabelle Peretz and Dominique T Vuvan Eur J Hum Genet 2017 25: 625-630; advance online publication, February 22, 2017; 10.1038/ejhg.2017.15 Abstract | Full Text | | | | Ancient mitochondrial lineages support the prehistoric maternal root of Basques in Northern Iberian PeninsulaLeire Palencia-Madrid, Sergio Cardoso, Christine Keyser, Juan Carlos López-Quintana, Amagoia Guenaga-Lizasu and Marian M de Pancorbo Eur J Hum Genet 2017 25: 631-636; advance online publication, March 8, 2017; 10.1038/ejhg.2017.24 Abstract | Full Text | | | | Genetics of the peloponnesean populations and the theory of extinction of the medieval peloponnesean GreeksEJHGOPENGeorge Stamatoyannopoulos, Aritra Bose, Athanasios Teodosiadis, Fotis Tsetsos, Anna Plantinga, Nikoletta Psatha, Nikos Zogas, Evangelia Yannaki, Pierre Zalloua, Kenneth K Kidd, Brian L Browning, John Stamatoyannopoulos, Peristera Paschou and Petros Drineas Eur J Hum Genet 2017 25: 637-645; advance online publication, March 8, 2017; 10.1038/ejhg.2017.18 Abstract | Full Text | | Short Reports | Top | | MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndromeAnnalisa Vetro, Salvatore Savasta, Annalisa Russo Raucci, Cristina Cerqua, Geppo Sartori, Ivan Limongelli, Antonella Forlino, Silvia Maruelli, Paola Perucca, Debora Vergani, Giuliano Mazzini, Andrea Mattevi, Lucia Anna Stivala, Leonardo Salviati and Orsetta Zuffardi Eur J Hum Genet 2017 25: 646-650; advance online publication, February 15, 2017; 10.1038/ejhg.2017.5 Abstract | Full Text | | | | Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophyFrancesco Testa, Mariaelena Filippelli, Raffaella Brunetti-Pierri, Giuseppina Di Fruscio, Valentina Di Iorio, Mariateresa Pizzo, Annalaura Torella, Maria Rosaria Barillari, Vincenzo Nigro, Nicola Brunetti-Pierri, Francesca Simonelli and Sandro Banfi Eur J Hum Genet 2017 25: 651-655; advance online publication, March 8, 2017; 10.1038/ejhg.2017.23 Abstract | Full Text | | Book Reviews | Top | | How to manage large-scale collaborative genomics research projects?Erinija Pranckevičienė and Vaidutis Kučinskas Eur J Hum Genet 2017 25: 656; 10.1038/ejhg.2017.19 Full Text | | | | Selected advances in genetics—cream of the cropEran Elhaik Eur J Hum Genet 2017 25: 657; 10.1038/ejhg.2017.14 Full Text | | Erratum | Top | | Legal approaches regarding health-care decisions involving minors: implications for next-generation sequencingKarine Sénécal, Kristof Thys, Danya F Vears, Kristof Van Assche, Bartha M Knoppers and Pascal Borry Eur J Hum Genet 2017 25: 658; 10.1038/ejhg.2017.41 Full Text | | |  | | | | | | Natureevents is a fully searchable, multi-disciplinary database designed to maximise exposure for events organisers. 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