Thursday, May 11, 2017

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

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European Journal of Human Genetics

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Volume 25, Issue 6 (June 2017)

In this issue
Short Reports
Book Review

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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 >>>



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



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



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


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


‘Inherited Metabolic Disease in Adults: A Clinical Guide’

Béla Melegh

Eur J Hum Genet 2017 25: 788; 10.1038/ejhg.2017.35

Full Text

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