European Journal of Human Genetics - Table of Contents alert Volume 26 Issue n12

TABLE OF CONTENTS Volume 26, Issue 12 In this issue Viewpoint Article Brief Communication Also new AOP Viewpoint The recognition of the profession of Genetic Counsellors in Europe Christophe Cordier, Marion McAllister, Clara Serra-Juhe, Joana Bengoa, Sara Pasalodos et al. European Journal of Human Genetics 2018 26 :1719 - 1720; September 25, 2018; 10.1038/s41431-018-0260-x Abstract | Full Text Article Registered access: authorizing data access Stephanie O. M. Dyke, Mikael Linden, Ilkka Lappalainen, Jordi Rambla De Argila, Knox Carey et al. European Journal of Human Genetics 2018 26 :1721 - 1731; August 02, 2018; 10.1038/s41431-018-0219-y Abstract | Full Text Guidelines for reporting secondary findings of genome sequencing in cancer genes: the SFMPP recommendations Pascal Pujol, Pierre Vande Perre, Laurence Faivre, Damien Sanlaville, Carole Corsini et al. European Journal of Human Genetics 2018 26 :1732 - 1742; August 08, 2018; 10.1038/s41431-018-0224-1 Abstract | Full Text Analysis of VUS reporting, variant reinterpretation and recontact policies in clinical genomic sequencing consent forms Danya F. Vears, Emilia Niemiec, Heidi Carmen Howard & Pascal Borry European Journal of Human Genetics 2018 26 :1743 - 1751; August 24, 2018; 10.1038/s41431-018-0239-7 Abstract | Full Text Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis Tessa van Dijk, Sacha Ferdinandusse, Jos P. N. Ruiter, Mariëlle Alders, Inge B. Mathijssen et al. European Journal of Human Genetics 2018 26 :1752 - 1758; August 08, 2018; 10.1038/s41431-018-0233-0 Abstract | Full Text Association of modifiers and other genetic factors explain Marfan syndrome clinical variability Melodie Aubart, Steven Gazal, Pauline Arnaud, Louise Benarroch, Marie-Sylvie Gross et al. European Journal of Human Genetics 2018 26 :1759 - 1772; August 07, 2018; 10.1038/s41431-018-0164-9 Abstract | Full Text A patient-specific induced pluripotent stem cell model for West syndrome caused by ST3GAL3 deficiency Laura van Diepen, Falk F. R. Buettner, Dirk Hoffmann, Christina T. Thiesler, Oliver von Bohlen und Halbach et al. European Journal of Human Genetics 2018 26 :1773 - 1783; August 08, 2018; 10.1038/s41431-018-0220-5 Abstract | Full Text New splicing pathogenic variant in EBP causing extreme familial variability of Conradi–Hünermann–Happle Syndrome Mathilde Pacault, Marie Vincent, Thomas Besnard, Caroline Kannengiesser, Claire Bénéteau et al. European Journal of Human Genetics 2018 26 :1784 - 1790; August 22, 2018; 10.1038/s41431-018-0217-0 Abstract | Full Text Human urine-derived renal epithelial cells provide insights into kidney-specific alternate splicing variants Elisa Molinari, Eva Decker, Holly Mabillard, James Tellez, Shalabh Srivastava et al. European Journal of Human Genetics 2018 26 :1791 - 1796; July 12, 2018; 10.1038/s41431-018-0212-5 Abstract | Full Text Characterization of three ciliopathy pedigrees expands the phenotype associated with biallelic C2CD3 variants Nicole J. Boczek, Katharina Hopp, Lacey Benoit, Daniel Kraft, Margot A. Cousin et al. European Journal of Human Genetics 2018 26 :1797 - 1809; August 10, 2018; 10.1038/s41431-018-0222-3 Abstract | Full Text An MTF1 binding site disrupted by a homozygous variant in the promoter of ATP7B likely causes Wilson Disease Heidi I. Chen, Karthik A. Jagadeesh, Johannes Birgmeier, Aaron M. Wenger, Harendra Guturu et al. European Journal of Human Genetics 2018 26 :1810 - 1818; August 07, 2018; 10.1038/s41431-018-0221-4 Abstract | Full Text Detection and quantification of a KIF11 mosaicism in a subject presenting familial exudative vitreoretinopathy with microcephaly Dyah W. Karjosukarso, Frans P. M. Cremers, C. Erik van Nouhuys & Rob W. J. Collin European Journal of Human Genetics 2018 26 :1819 - 1823; September 04, 2018; 10.1038/s41431-018-0243-y Abstract | Full Text Genetic variation in CHRNA7 and CHRFAM7A is associated with nicotine dependence and response to varenicline treatment Cinzia Cameli, Elena Bacchelli, Maria De Paola, Giuliano Giucastro, Stefano Cifiello et al. European Journal of Human Genetics 2018 26 :1824 - 1831; August 08, 2018; 10.1038/s41431-018-0223-2 Abstract | Full Text Estimating the age of p.(Phe508del) with family studies of geographically distinct European populations and the early spread of cystic fibrosis Philip Farrell, Claude Férec, Milan Macek, Thomas Frischer, Sabine Renner et al. European Journal of Human Genetics 2018 26 :1832 - 1839; August 08, 2018; 10.1038/s41431-018-0234-z Abstract | Full Text Genetics of hearing loss in the Arab population of Northern Israel Nada Danial-Farran, Zippora Brownstein, Suleyman Gulsuner, Luna Tammer, Morad Khayat et al. European Journal of Human Genetics 2018 26 :1840 - 1847; August 23, 2018; 10.1038/s41431-018-0218-z Abstract | Full Text A study of Kibbutzim in Israel reveals risk factors for cardiometabolic traits and subtle population structure Einat Granot-Hershkovitz, David Karasik, Yechiel Friedlander, Laura Rodriguez-Murillo, Rajkumar Dorajoo et al. European Journal of Human Genetics 2018 26 :1848 - 1858; August 14, 2018; 10.1038/s41431-018-0230-3 Abstract | Full Text Sequence diversity of the Rh blood group system in Basques André Flores-Bello, David Mas-Ponte, Miruna E. Rosu, Elena Bosch, Francesc Calafell et al. European Journal of Human Genetics 2018 26 :1859 - 1866; August 08, 2018; 10.1038/s41431-018-0232-1 Abstract | Full Text Brief Communication DNAJC12-associated developmental delay, movement disorder, and mild hyperphenylalaninemia identified by whole-exome sequencing re-analysis Danielle Veenma, Dawn Cordeiro, Neal Sondheimer & Saadet Mercimek-Andrews European Journal of Human Genetics 2018 26 :1867 - 1870; August 23, 2018; 10.1038/s41431-018-0237-9 Abstract | Full Text Stereocilin gene variants associated with episodic vertigo: expansion of the DFNB16 phenotype Carina Frykholm, Joakim Klar, Tatjana Tomanovic, Adam Ameur & Niklas Dahl European Journal of Human Genetics 2018 26 :1871 - 1874; September 24, 2018; 10.1038/s41431-018-0256-6 Abstract | Full Text On the loss of human sex chromosomes in lymphocytes with age: a quantitative treatment Reiner A. Veitia European Journal of Human Genetics 2018 26 :1875 - 1878; August 10, 2018; 10.1038/s41431-018-0225-0 Abstract | Full Text Advertisement Nature Briefing is an essential round-up of science news, opinion and analysis, free in your inbox every weekday. With Nature Briefing, we'll keep you updated on the latest research, so you can focus on yours. Click here to sign up. 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. 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