European Journal of Human Genetics - Table of Contents alert Volume 25 Issue n6

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Advertisement What was once unresolved, is now confirmed. Repeat sequences pose significant hurdles to reliable genetic analysis. We?re committed to providing research tools necessary to analyze complex gene targets. Our AmplideX® PCR/CE FMR1, C9orf72 and TOMM40 RUO Kits overcome target complexity so you can focus on what matters most - scientific breakthroughs. TABLE OF CONTENTS Volume 25, Issue 6 (June 2017) In this issue Viewpoint Review Articles Short Reports Book Review Also new AOP Sign up for e-alerts Recommend to your library Web feed Subscribe Advertisement Celebrating 25 years of the European Journal of Human Genetics — 1992 - 2017 Visit us at the European Society for Human Genetics (ESHG) annual meeting in Copenhagen, booth #334 to pick up copies of the journal and a special anniversary booklet of top-cited articles from the journal's 25 years of publication. And, be sure to join us on Sunday, May 28th at 2.30pm to meet the Editors and enjoy a celebratory cupcake! Read more and watch our anniversary video >>> Viewpoint Top The role of genetic counsellors in genomic healthcare in the United Kingdom: a statement by the Association of Genetic Nurses and CounsellorsEJHGOPEN Anna Middleton, Peter Marks, Anita Bruce, Liwsi K Protheroe-Davies, Cath King, Oonagh Claber, Catherine Houghton, Claire Giffney, Rhona Macleod, Claire Dolling, Sue Kenwrick, Diana Scotcher, Georgina Hall, Christine Patch and Laura Boyes on behalf of the Association of Genetic Nurses and Counsellors (AGNC) Eur J Hum Genet 2017 25: 659-661; advance online publication, March 22, 2017; 10.1038/ejhg.2017.28 Abstract | Full Text Review Top Personal utility in genomic testing: a systematic literature review Jennefer N Kohler, Erin Turbitt and Barbara B Biesecker Eur J Hum Genet 2017 25: 662-668; advance online publication, March 15, 2017; 10.1038/ejhg.2017.10 Abstract | Full Text Articles Top Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disordersEJHGOPEN Alistair T Pagnamenta, Yoshiko Murakami, John M Taylor, Consuelo Anzilotti, Malcolm F Howard, Venessa Miller, Diana S Johnson, Shereen Tadros, Sahar Mansour, I Karen Temple, Rachel Firth, Elisabeth Rosser, Rachel E Harrison, Bronwen Kerr, Niko Popitsch, The DDD Study, Taroh Kinoshita, Jenny C Taylor and Usha Kini Eur J Hum Genet 2017 25: 669-679; advance online publication, March 22, 2017; 10.1038/ejhg.2017.32 Abstract | Full Text Insights from early experience of a Rare Disease Genomic Medicine Multidisciplinary Team: a qualitative studyEJHGOPEN Elizabeth Ormondroyd, Michael P Mackley, Edward Blair, Jude Craft, Julian C Knight, John Taylor, Jenny C Taylor, Andrew OM Wilkie and Hugh Watkins Eur J Hum Genet 2017 25: 680-686; advance online publication, March 22, 2017; 10.1038/ejhg.2017.37 Abstract | Full Text From older to younger: intergenerational promotion of health behaviours in Portuguese families affected by familial amyloid polyneuropathy Carla Roma Oliveira, Alvaro Mendes and Liliana Sousa Eur J Hum Genet 2017 25: 687-693; advance online publication, March 22, 2017; 10.1038/ejhg.2017.40 Abstract | Full Text Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new casesEJHGOPEN Francesca Novara, Berardo Rinaldi, Sanjay M Sisodiya, Antonietta Coppola, Sabrina Giglio, Franco Stanzial, Francesco Benedicenti, Alan Donaldson, Joris Andrieux, Rachel Stapleton, Astrid Weber, Paolo Reho, Conny van Ravenswaaij-Arts, Wilhelmina S Kerstjens-Frederikse, Joris Robert Vermeesch, Koenraad Devriendt, Carlos A Bacino, Andrée Delahaye, S M Maas, Achille Iolascon and Orsetta Zuffardi Eur J Hum Genet 2017 25: 694-701; advance online publication, April 19, 2017; 10.1038/ejhg.2017.49 Abstract | Full Text A unique haplotype of RCCX copy number variation: from the clinics of congenital adrenal hyperplasia to evolutionary genetics Márton Doleschall, Andrea Luczay, Klára Koncz, Kinga Hadzsiev, Éva Erhardt, Ágnes Szilágyi, Zoltán Doleschall, Krisztina Németh, Dóra Török, Zoltán Prohászka, Balázs Gereben, György Fekete, Edit Gláz, Péter Igaz, Márta Korbonits, Miklós Tóth, Károly Rácz and Attila Patócs Eur J Hum Genet 2017 25: 702-710; advance online publication, April 12, 2017; 10.1038/ejhg.2017.38 Abstract | Full Text Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract Owen M Siggs, Shari Javadiyan, Shiwani Sharma, Emmanuelle Souzeau, Karen M Lower, Deepa A Taranath, Jo Black, John Pater, John G Willoughby, Kathryn P Burdon and Jamie E Craig Eur J Hum Genet 2017 25: 711-718; advance online publication, March 8, 2017; 10.1038/ejhg.2017.33 Abstract | Full Text Validation of copy number variation analysis for next-generation sequencing diagnostics Jamie M Ellingford, Christopher Campbell, Stephanie Barton, Sanjeev Bhaskar, Saurabh Gupta, Rachel L Taylor, Panagiotis I Sergouniotis, Bradley Horn, Janine A Lamb, Michel Michaelides, Andrew R Webster, William G Newman, Binay Panda, Simon C Ramsden and Graeme CM Black Eur J Hum Genet 2017 25: 719-724; advance online publication, April 5, 2017; 10.1038/ejhg.2017.42 Abstract | Full Text Development and clinical utility of a novel diagnostic nystagmus gene panel using targeted next-generation sequencingEJHGOPEN Mervyn G Thomas, Gail DE Maconachie, Viral Sheth, Rebecca J McLean and Irene Gottlob Eur J Hum Genet 2017 25: 725-734; advance online publication, April 5, 2017; 10.1038/ejhg.2017.44 Abstract | Full Text Genotypic spectrum and phenotype correlations of ABCA4-associated disease in patients of south Asian descent Winston Lee, Kaspar Schuerch, Jana Zernant, Frederick T Collison, Srilaxmi Bearelly, Gerald A Fishman, Stephen H Tsang, Janet R Sparrow and Rando Allikmets Eur J Hum Genet 2017 25: 735-743; advance online publication, March 22, 2017; 10.1038/ejhg.2017.13 Abstract | Full Text A mutation in the TMEM65 gene results in mitochondrial myopathy with severe neurological manifestations Aisha Nazli, Adeel Safdar, Ayesha Saleem, Mahmood Akhtar, Lauren I Brady, Jeremy Schwartzentruber and Mark A Tarnopolsky Eur J Hum Genet 2017 25: 744-751; advance online publication, March 15, 2017; 10.1038/ejhg.2017.20 Abstract | Full Text An efficient and flexible test for rare variant effects Shonosuke Sugasawa, Hisashi Noma, Takahiro Otani, Jo Nishino and Shigeyuki Matsui Eur J Hum Genet 2017 25: 752-757; advance online publication, April 12, 2017; 10.1038/ejhg.2017.43 Abstract | Full Text Genetic variants associated with type 2 diabetes and adiposity and risk of intracranial and abdominal aortic aneurysms Femke NG van 't Hof, Julien Vaucher, Michael V Holmes, Arno de Wilde, Annette F Baas, Jan D Blankensteijn, Albert Hofman, Lambertus ALM Kiemeney, Fernando Rivadeneira, André G Uitterlinden, Sita H Vermeulen, Gabriël JE Rinkel, Paul IW de Bakker and Ynte M Ruigrok Eur J Hum Genet 2017 25: 758-762; advance online publication, April 5, 2017; 10.1038/ejhg.2017.48 Abstract | Full Text Short Reports Top Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy Lisa J Ewans, Michael Field, Ying Zhu, Gillian Turner, Melanie Leffler, Marcel E Dinger, Mark J Cowley, Michael F Buckley, Ingrid E Scheffer, Matilda R Jackson, Tony Roscioli and Cheryl Shoubridge Eur J Hum Genet 2017 25: 763-767; advance online publication, March 15, 2017; 10.1038/ejhg.2017.29 Abstract | Full Text Paternity testing under the cloak of recreational genetics Nathalie Moray, Katherina E Pink, Pascal Borry and Maarten HD Larmuseau Eur J Hum Genet 2017 25: 768-770; advance online publication, March 8, 2017; 10.1038/ejhg.2017.31 Abstract | Full Text Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome Michèl A Willemsen, Lisenka ELM Vissers, Marcel M Verbeek, Bregje W van Bon, Sinje Geuer, Christian Gilissen, Joerg Klepper, Michael P Kwint, Wilhelmina G Leen, Maartje Pennings, Ron A Wevers, Joris A Veltman and Erik-Jan Kamsteeg Eur J Hum Genet 2017 25: 771-774; advance online publication, April 5, 2017; 10.1038/ejhg.2017.45 Abstract | Full Text Severe neurodegeneration, progressive cerebral volume loss and diffuse hypomyelination associated with a homozygous frameshift mutation in CSTB Alan O'Brien, Christian R Marshall, Susan Blaser, Peter N Ray and Grace Yoon Eur J Hum Genet 2017 25: 775-778; advance online publication, April 5, 2017; 10.1038/ejhg.2017.39 Abstract | Full Text Deciphering the mechanism of Q145H SFTPC mutation unmasks a splicing defect and explains the severity of the phenotype Céline Delestrain, Stéphanie Simon, Abdel Aissat, Rachel Medina, Xavier Decrouy, Elodie Nattes, Agathe Tarze, Bruno Costes, Pascale Fanen and Ralph Epaud Eur J Hum Genet 2017 25: 779-782; advance online publication, March 15, 2017; 10.1038/ejhg.2017.36 Abstract | Full Text Exome sequencing identifies primary carnitine deficiency in a family with cardiomyopathy and sudden death Najim Lahrouchi, Elisabeth M Lodder, Maria Mansouri, Rafik Tadros, Layla Zniber, Najlae Adadi, Sally-Ann B Clur, Karin Y van Spaendonck-Zwarts, Alex V Postma, Abdelaziz Sefiani, Ilham Ratbi and Connie R Bezzina Eur J Hum Genet 2017 25: 783-787; advance online publication, March 15, 2017; 10.1038/ejhg.2017.22 Abstract | Full Text Book Review Top ‘Inherited Metabolic Disease in Adults: A Clinical Guide’ Béla Melegh Eur J Hum Genet 2017 25: 788; 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