European Journal of Human Genetics - Table of Contents alert Volume 23 Issue

If you are unable to see the message below, click here to view.

TABLE OF CONTENTS Volume 23, Issue 2 (February 2015) In this issue Articles Short Reports Clinical Utility Gene Cards Book Reviews Also new AOP Sign up for e-alerts Recommend to your library Web feed Subscribe Articles Top Dynamic consent: a patient interface for twenty-first century research networksEJHGOPEN Jane Kaye, Edgar A Whitley, David Lund, Michael Morrison, Harriet Teare and Karen Melham Eur J Hum Genet 2015 23: 141-146; advance online publication, May 7, 2014; 10.1038/ejhg.2014.71 Abstract | Full Text Accuracy of recall of information about a cancer-predisposing BRCA1/2 gene mutation among patients and relatives Chris Jacobs, Caroline Dancyger, Jonathan A Smith and Susan Michie Eur J Hum Genet 2015 23: 147-151; advance online publication, May 21, 2014; 10.1038/ejhg.2014.84 Abstract | Full Text Connecting patients, researchers and clinical genetics services: the experiences of participants in the Australian Ovarian Cancer Study (AOCS) Ashley Crook, Loren Plunkett, Laura E Forrest, Nina Hallowell, Samantha Wake, Kathryn Alsop, Margaret Gleeson, David Bowtell, Gillian Mitchell, The Australian Ovarian Cancer Study Group and Mary-Anne Young Eur J Hum Genet 2015 23: 152-158; advance online publication, May 14, 2014; 10.1038/ejhg.2014.86 Abstract | Full Text Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy Ulla Najwa Abdulhag, Devorah Soiferman, Ora Schueler-Furman, Chaya Miller, Avraham Shaag, Orly Elpeleg, Simon Edvardson and Ann Saada Eur J Hum Genet 2015 23: 159-164; advance online publication, April 30, 2014; 10.1038/ejhg.2014.85 Abstract | Full Text Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans A Gulhan Ercan-Sencicek, Samira Jambi, Daniel Franjic, Sayoko Nishimura, Mingfeng Li, Paul El-Fishawy, Thomas M Morgan, Stephan J Sanders, Kaya Bilguvar, Mohnish Suri, Michele H Johnson, Abha R Gupta, Zafer Yuksel, Shrikant Mane, Elena Grigorenko, Marina Picciotto, Arthur S Alberts, Murat Gunel, Nenad Šestan and Matthew W State Eur J Hum Genet 2015 23: 165-172; advance online publication, April 30, 2014; 10.1038/ejhg.2014.82 Abstract | Full Text 6q22.1 microdeletion and susceptibility to pediatric epilepsy Przemyslaw Szafranski, Gretchen K Von Allmen, Brett H Graham, Angus A Wilfong, Sung-Hae L Kang, Jose A Ferreira, Sheila J Upton, John B Moeschler, Weimin Bi, Jill A Rosenfeld, Lisa G Shaffer, Sau Wai Cheung, Paweł Stankiewicz and Seema R Lalani Eur J Hum Genet 2015 23: 173-179; advance online publication, May 14, 2014; 10.1038/ejhg.2014.75 Abstract | Full Text Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32 Jasmin Beygo, Miriam Elbracht, Karel de Groot, Matthias Begemann, Deniz Kanber, Konrad Platzer, Gabriele Gillessen-Kaesbach, Anne Vierzig, Andrew Green, Raoul Heller, Karin Buiting and Thomas Eggermann Eur J Hum Genet 2015 23: 180-188; advance online publication, May 7, 2014; 10.1038/ejhg.2014.72 Abstract | Full Text Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5 Celia Zazo Seco, Anne MM Oonk, María Domínguez-Ruiz, Jos MT Draaisma, Marta Gandía, Jaap Oostrik, Kornelia Neveling, Henricus PM Kunst, Lies H Hoefsloot, Ignacio del Castillo, Ronald JE Pennings, Hannie Kremer, Ronald JC Admiraal and Margit Schraders Eur J Hum Genet 2015 23: 189-194; advance online publication, April 30, 2014; 10.1038/ejhg.2014.83 Abstract | Full Text GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells Gabriella Livide, Tommaso Patriarchi, Mariangela Amenduni, Sonia Amabile, Dag Yasui, Eleonora Calcagno, Caterina Lo Rizzo, Giulia De Falco, Cristina Ulivieri, Francesca Ariani, Francesca Mari, Maria Antonietta Mencarelli, Johannes Wilhelm Hell, Alessandra Renieri and Ilaria Meloni Eur J Hum Genet 2015 23: 195-201; advance online publication, June 11, 2014; 10.1038/ejhg.2014.81 Abstract | Full Text SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors G Herma Renkema, Saskia B Wortmann, Roel J Smeets, Hanka Venselaar, Marion Antoine, Gepke Visser, Tawfeg Ben-Omran, Lambert P van den Heuvel, Henri J L M Timmers, Jan A Smeitink and Richard J T Rodenburg Eur J Hum Genet 2015 23: 202-209; advance online publication, April 30, 2014; 10.1038/ejhg.2014.80 Abstract | Full Text Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population Jillian P Casey, Paul A McGettigan, Fiona Healy, Claire Hogg, Alison Reynolds, Breandan N Kennedy, Sean Ennis, Dubhfeasa Slattery and Sally A Lynch Eur J Hum Genet 2015 23: 210-217; advance online publication, May 14, 2014; 10.1038/ejhg.2014.79 Abstract | Full Text Positional cloning and next-generation sequencing identified a TGM6 mutation in a large Chinese pedigree with acute myeloid leukaemia Li-li Pan, Yuan-mao Huang, Min Wang, Xiao-e Zhuang, Dong-feng Luo, Shi-cheng Guo, Zhi-shun Zhang, Qing Huang, Sheng-long Lin and Shao-yuan Wang Eur J Hum Genet 2015 23: 218-223; advance online publication, April 23, 2014; 10.1038/ejhg.2014.67 Abstract | Full Text The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen–Goldberg syndrome Dorien Schepers, Alexander J Doyle, Gretchen Oswald, Elizabeth Sparks, Loretha Myers, Patrick J Willems, Sahar Mansour, Michael A Simpson, Helena Frysira, Anneke Maat-Kievit, Rick Van Minkelen, Jeanette M Hoogeboom, Geert R Mortier, Hannah Titheradge, Louise Brueton, Lois Starr, Zornitza Stark, Charlotte Ockeloen, Charles Marques Lourenco, Ed Blair, Emma Hobson, Jane Hurst, Isabelle Maystadt, Anne Destrée, Katta M Girisha, Michelle Miller, Harry C Dietz, Bart Loeys and Lut Van Laer Eur J Hum Genet 2015 23: 224-228; advance online publication, April 16, 2014; 10.1038/ejhg.2014.61 Abstract | Full Text Test of rare variant association based on affected sib-pairs Qiuying Sha and Shuanglin Zhang Eur J Hum Genet 2015 23: 229-237; advance online publication, March 26, 2014; 10.1038/ejhg.2014.43 Abstract | Full Text Improving power for robust trans-ethnic meta-analysis of rare and low-frequency variants with a partitioning approach Sergii Zakharov, Xu Wang, Jianjun Liu and Yik-Ying Teo Eur J Hum Genet 2015 23: 238-244; advance online publication, May 7, 2014; 10.1038/ejhg.2014.78 Abstract | Full Text The peopling of Greenland: further insights from the analysis of genetic diversity using autosomal and X-chromosomal markers Vania Pereira, Carmen Tomas, Juan J Sanchez, Denise Syndercombe-Court, António Amorim, Leonor Gusmão, Maria João Prata and Niels Morling Eur J Hum Genet 2015 23: 245-251; advance online publication, May 7, 2014; 10.1038/ejhg.2014.90 Abstract | Full Text Short Reports Top Highly restricted deletion of the SNORD116 region is implicated in Prader–Willi Syndrome Eric Bieth, Sanaa Eddiry, Véronique Gaston, Françoise Lorenzini, Alexandre Buffet, Françoise Conte Auriol, Catherine Molinas, Dorothée Cailley, Caroline Rooryck, Benoit Arveiler, Jérome Cavaillé, Jean Pierre Salles and Maïthé Tauber Eur J Hum Genet 2015 23: 252-255; advance online publication, June 11, 2014; 10.1038/ejhg.2014.103 Abstract | Full Text An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome Hengameh Abdollahpour, Malik Alawi, Fanny Kortüm, Michael Beckstette, Eva Seemanova, Vladimír Komárek, Georg Rosenberger and Kerstin Kutsche Eur J Hum Genet 2015 23: 256-259; advance online publication, April 30, 2014; 10.1038/ejhg.2014.73 Abstract | Full Text Common colorectal cancer risk alleles contribute to the multiple colorectal adenoma phenotype, but do not influence colonic polyposis in FAPEJHGOPEN Timothy H T Cheng, Maggie Gorman, Lynn Martin, Ella Barclay, Graham Casey, Colon Cancer Family Registry, CGEMS, Brian Saunders, Huw Thomas, Sue Clark and Ian Tomlinson Eur J Hum Genet 2015 23: 260-263; advance online publication, May 7, 2014; 10.1038/ejhg.2014.74 Abstract | Full Text Exome sequencing reveals a nonsense mutation in MMP13 as a new cause of autosomal recessive metaphyseal anadysplasia Dong Li, David R Weber, Matthew A Deardorff, Hakon Hakonarson and Michael A Levine Eur J Hum Genet 2015 23: 264-266; advance online publication, April 30, 2014; 10.1038/ejhg.2014.76 Abstract | Full Text The functional polymorphism rs73598374:G>A (p.Asp8Asn) of the ADA gene is associated with telomerase activity and leukocyte telomere length Fabio Concetti, Francesco M Carpi, Massimo Nabissi, Matteo Picciolini, Giorgio Santoni and Valerio Napolioni Eur J Hum Genet 2015 23: 267-270; advance online publication, June 4, 2014; 10.1038/ejhg.2014.102 Abstract | Full Text Machado–Joseph disease in a Nigerian family: mutational origin and review of the literature Shamsideen Abayomi Ogun, Sandra Martins, Philip B Adebayo, Clara O Dawodu, Jorge Sequeiros and Michael F Finkel Eur J Hum Genet 2015 23: 271-273; advance online publication, April 30, 2014; 10.1038/ejhg.2014.77 Abstract | Full Text Clinical Utility Gene Cards Top Clinical utility gene card for: ALG6 defective congenital disorder of glycosylation Jaak Jaeken, Dirk Lefeber and Gert Matthijs Eur J Hum Genet 2015 23: ; advance online publication, July 23, 2014; 10.1038/ejhg.2014.146 Full Text Clinical utility gene card for: Angelman Syndrome Karin Buiting, Jill Clayton-Smith, Daniel J Driscoll, Gabriele Gillessen-Kaesbach, Deniz Kanber, Eberhard Schwinger, Charles Williams and Bernhard Horsthemke Eur J Hum Genet 2015 23: ; advance online publication, June 4, 2014; 10.1038/ejhg.2014.93 Full Text Book Reviews Top All you ever needed to explain genetics to non-geneticists Amanda Collins Eur J Hum Genet 2015 23: 275; 10.1038/ejhg.2014.203 Full Text A classic textbook which will earn its space on your bookshelf Amanda Collins Eur J Hum Genet 2015 23: 275; 10.1038/ejhg.2014.204 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. Nature Publishing Group | 75 Varick Street, 9th Floor | New York | NY 10013-1917 | USA Nature Publishing Group's worldwide offices: London - Paris - Munich - New Delhi - Tokyo - Melbourne San Diego - San Francisco - Washington - New York - Boston Macmillan Publishers Limited is a company incorporated in England and Wales under company number 785998 and whose registered office is located at Brunel Road, Houndmills, Basingstoke, Hampshire RG21 6XS. © 2015 Nature Publishing Group, a division of Macmillan Publishers Limited. All Rights Reserved.