European Journal of Human Genetics - Table of Contents alert Volume 26 Issue n4

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TABLE OF CONTENTS Volume 26, Issue 4 In this issue Policy Correspondence Article Brief Communication Also new AOP   Policy Human germline gene editing: Recommendations of ESHG and ESHRE Guido de Wert, Guido Pennings, Angus Clarke, Ursula Eichenlaub-Ritter, Carla G. van El et al. European Journal of Human Genetics 2018 26 :445 - 449; January 12, 2018; 10.1038/s41431-017-0076-0   Abstract | Full Text Responsible innovation in human germline gene editing: Background document to the recommendations of ESHG and ESHRE Guido De Wert, Björn Heindryckx, Guido Pennings, Angus Clarke, Ursula Eichenlaub-Ritter et al. European Journal of Human Genetics 2018 26 :450 - 470; January 12, 2018; 10.1038/s41431-017-0077-z   Abstract | Full Text Correspondence Revisiting Wilms tumour surveillance in Beckwith–Wiedemann syndrome with IC2 methylation loss, reply Frédéric Brioude, Raoul Hennekam, Jet Bliek, Carole Coze, Thomas Eggermann et al. European Journal of Human Genetics 2018 26 :471 - 472; February 15, 2018; 10.1038/s41431-017-0074-2   Abstract | Full Text Reply to Brioude et al Jack Brzezinski, Cheryl Shuman, Sanaa Choufani, Peter Ray, Dimitri J Stavropoulos et al. European Journal of Human Genetics 2018 26 :473 - 474; February 15, 2018; 10.1038/s41431-017-0094-y   Abstract | Full Text Fanconi anemia: from DNA repair to metabolism Silvia Ravera, Carlo Dufour, Paolo Degan & Enrico Cappelli European Journal of Human Genetics 2018 26 :475 - 476; February 02, 2018; 10.1038/s41431-017-0046-6   Abstract | Full Text Article Psychosocial impact on mothers receiving expanded newborn screening results Kathleen O’Connor, Tara Jukes, Sharan Goobie, Jennifer DiRaimo, Greg Moran et al. European Journal of Human Genetics 2018 26 :477 - 484; January 29, 2018; 10.1038/s41431-017-0069-z   Abstract | Full Text Offering pregnant women different levels of genetic information from prenatal chromosome microarray: a prospective study Jane L. Halliday, Cecile Muller, Taryn Charles, Fiona Norris, Joanne Kennedy et al. European Journal of Human Genetics 2018 26 :485 - 494; February 06, 2018; 10.1038/s41431-017-0084-0   Abstract | Full Text Interpretations of autonomous decision-making in antenatal genetic screening among women in China, Hong Kong and Pakistan Shenaz Ahmed, Huso Yi, Dong Dong, Jianfeng Zhu, Hussain Jafri et al. European Journal of Human Genetics 2018 26 :495 - 504; January 31, 2018; 10.1038/s41431-017-0091-1   Abstract | Full Text Knowledge, experiences and attitudes concerning genetics among retinoblastoma survivors and parents Jessica A Hill, Amal Gedleh, Siwon Lee, Kaitlyn A Hougham & Helen Dimaras European Journal of Human Genetics 2018 26 :505 - 517; January 29, 2018; 10.1038/s41431-017-0027-9   Abstract | Full Text Patient experience and utility of genetic information: a cross-sectional study among patients tested for cancer susceptibility and thrombophilia Elvira D’Andrea, Tyra Lagerberg, Corrado De Vito, Erica Pitini, Carolina Marzuillo et al. European Journal of Human Genetics 2018 26 :518 - 526; January 26, 2018; 10.1038/s41431-017-0083-1   Abstract | Full Text Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndrome Audrey Schalk, Géraldine Greff, Nathalie Drouot, Cathy Obringer, Hélène Dollfus et al. European Journal of Human Genetics 2018 26 :527 - 536; February 08, 2018; 10.1038/s41431-017-0009-y   Abstract | Full Text Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease Rick Kamps, Radek Szklarczyk, Tom E. Theunissen, Debby M. E. I. Hellebrekers, Suzanne C. E. H. Sallevelt et al. European Journal of Human Genetics 2018 26 :537 - 551; February 13, 2018; 10.1038/s41431-017-0058-2   Abstract | Full Text CXorf56, a dendritic neuronal protein, identified as a new candidate gene for X-linked intellectual disability Annemieke J. M. H. Verkerk, Shimriet Zeidler, Guido Breedveld, Lydia Overbeek, Daphne Huigh et al. European Journal of Human Genetics 2018 26 :552 - 560; January 26, 2018; 10.1038/s41431-017-0051-9   Abstract | Full Text Genome-wide association study of Hirschsprung disease detects a novel low-frequency variant at the RET locus João Fadista, Marie Lund, Line Skotte, Frank Geller, Priyanka Nandakumar et al. European Journal of Human Genetics 2018 26 :561 - 569; January 29, 2018; 10.1038/s41431-017-0053-7   Abstract | Full Text Usefulness of the genetic risk score to identify phenocopies in families with familial hypercholesterolemia? Youmna Ghaleb, Sandy Elbitar, Petra El Khoury, Eric Bruckert, Valérie Carreau et al. European Journal of Human Genetics 2018 26 :570 - 578; January 26, 2018; 10.1038/s41431-017-0078-y   Abstract | Full Text Brief Communication Cytochrome c oxidase deficiency, oxidative stress, possible antioxidant therapy and link to nuclear DNA damage Liza Douiev, Bassam Abu-Libdeh & Ann Saada European Journal of Human Genetics 2018 26 :579 - 581; February 02, 2018; 10.1038/s41431-017-0047-5   Abstract | Full Text A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder Silvia Morlino, Marco Castori, Chiara Dordoni, Valeria Cinquina, Graziano Santoro et al. European Journal of Human Genetics 2018 26 :582 - 586; February 21, 2018; 10.1038/s41431-017-0079-x   Abstract | Full Text Bi-allelic inactivating variants in the COCH gene cause autosomal recessive prelingual hearing impairment Sebastien P. F. JanssensdeVarebeke, Guy Van Camp, Nils Peeters, Ellen Elinck, Josine Widdershoven et al. European Journal of Human Genetics 2018 26 :587 - 591; February 15, 2018; 10.1038/s41431-017-0066-2   Abstract | Full Text Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability Aida M. Bertoli-Avella, Jose M. Garcia-Aznar, Oliver Brandau, Fahad Al-Hakami, Zafer Yüksel et al. European Journal of Human Genetics 2018 26 :592 - 598; February 15, 2018; 10.1038/s41431-018-0097-3   Abstract | Full Text Assessing the effectiveness of NICE criteria for stratifying breast cancer risk in a UK cohort Lucy A. Littlejohn, Jim Gibbs, Lee B. Jordan, Zosia H. Miedzybrodzka, Christine Bell et al. European Journal of Human Genetics 2018 26 :599 - 603; January 15, 2018; 10.1038/s41431-017-0072-4   Abstract | Full Text Natureevents is a fully searchable, multi-disciplinary database designed to maximise exposure for events organisers. The contents of the Natureevents Directory are now live. The digital version is available here. Find the latest scientific conferences, courses, meetings and symposia on natureevents.com. For event advertising opportunities across the Nature Publishing Group portfolio please contact natureevents@nature.com More Nature Events Please note that you need to be a subscriber or site-licence holder to enjoy full-text access to European Journal of Human Genetics. In order to do so, please purchase a subscription. You have been sent this Table of Contents Alert because you have opted in to receive it. You can change or discontinue your e-mail alerts at any time, by modifying your preferences on your nature.com account at: www.nature.com/nams/svc/myaccount (You will need to log in to be recognised as a nature.com registrant). For further technical assistance, please contact our registration department. For print subscription enquiries, please contact our subscription department. For other enquiries, please contact our customer feedback department. 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