European Journal of Human Genetics - Table of Contents alert Volume 24 Issue n11

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PerkinElmer's CE IVD marked chemagic™ instrumentation and kits offer reliable solutions for this challenge by providing - DNA isolation directly from 200 ul whole blood or plasma samples - Ready to use DNA - Processing of 96 samples in < 60 min. - Up to 200 kb DNA fragments suitable for NGS TABLE OF CONTENTS Volume 24, Issue 11 (November 2016) In this issue Articles Short Reports Clinical Utility Gene Cards Book Review Also new AOP Sign up for e-alerts Recommend to your library Web feed Subscribe Articles Top When knowledge of a heritable gene mutation comes out of the blue: treatment-focused genetic testing in women newly diagnosed with breast cancer B Meiser, V F Quinn, M Gleeson, J Kirk, K M Tucker, B Rahman, C Saunders, K J Watts, M Peate, E Geelhoed, K Barlow-Stewart, M Field, M Harris, Y C Antill and G Mitchell for the TFGT Collaborative Group Eur J Hum Genet 2016 24: 1517-1523; advance online publication, June 22, 2016; 10.1038/ejhg.2016.69 Abstract | Full Text Return of individual genomic research results: what do consent forms tell participants? Stacey Pereira, Jill Oliver Robinson and Amy L McGuire Eur J Hum Genet 2016 24: 1524-1529; advance online publication, June 22, 2016; 10.1038/ejhg.2016.76 Abstract | Full Text Consent for newborn screening: parents’ and health-care professionals’ experiences of consent in practice Holly Etchegary, Stuart G Nicholls, Laure Tessier, Charlene Simmonds, Beth K Potter, Jamie C Brehaut, Daryl Pullman, Robyn Hayeems, Sari Zelenietz, Monica Lamoureux, Jennifer Milburn, Lesley Turner, Pranesh Chakraborty and Brenda Wilson Eur J Hum Genet 2016 24: 1530-1534; advance online publication, June 15, 2016; 10.1038/ejhg.2016.55 Abstract | Full Text Prenatal testing in Huntington disease: after the test, choices recommence Hanane Bouchghoul, Stéphane-Françoise Clément, Danièle Vauthier, Cécile Cazeneuve, Sandrine Noel, Marc Dommergues, Delphine Héron, Jacky Nizard, Marcela Gargiulo and Alexandra Durr Eur J Hum Genet 2016 24: 1535-1540; advance online publication, June 15, 2016; 10.1038/ejhg.2016.59 Abstract | Full Text Supporting genetics in primary care: investigating how theory can inform professional educationEJHGOPEN Brenda J Wilson, Rafat Islam, Jill J Francis, Jeremy M Grimshaw, Joanne A Permaul, Judith E Allanson, Sean Blaine, Ian D Graham, Wendy S Meschino, Craig R Ramsay and June C Carroll Eur J Hum Genet 2016 24: 1541-1546; advance online publication, June 22, 2016; 10.1038/ejhg.2016.68 Abstract | Full Text Challenges raised by cross-border testing of rare diseases in the European union Pia Pohjola, Victoria Hedley, Kate Bushby and Helena Kääriäinen Eur J Hum Genet 2016 24: 1547-1552; advance online publication, July 6, 2016; 10.1038/ejhg.2016.70 Abstract | Full Text The risk of re-identification versus the need to identify individuals in rare disease researchEJHGOPEN Mats G Hansson, Hanns Lochmüller, Olaf Riess, Franz Schaefer, Michael Orth, Yaffa Rubinstein, Caron Molster, Hugh Dawkins, Domenica Taruscio, Manuel Posada and Simon Woods Eur J Hum Genet 2016 24: 1553-1558; advance online publication, May 25, 2016; 10.1038/ejhg.2016.52 Abstract | Full Text Legal approaches regarding health-care decisions involving minors: implications for next-generation sequencingEJHGOPEN Karine Sénécal, Kristof Thys, Danya F Vears, Kristof Van Assche, Bartha M Knoppers and Pascal Borry Eur J Hum Genet 2016 24: 1559-1564; advance online publication, June 15, 2016; 10.1038/ejhg.2016.61 Abstract | Full Text Spectrum of PEX1 and PEX6 variants in Heimler syndromeEJHGOPEN Claire E L Smith, James A Poulter, Alex V Levin, Jenina E Capasso, Susan Price, Tamar Ben-Yosef, Reuven Sharony, William G Newman, Roger C Shore, Steven J Brookes, Alan J Mighell and Chris F Inglehearn Eur J Hum Genet 2016 24: 1565-1571; advance online publication, June 15, 2016; 10.1038/ejhg.2016.62 Abstract | Full Text A splice variant in the ACSL5 gene relates migraine with fatty acid activation in mitochondriaEJHGOPEN Fuencisla Matesanz, María Fedetz, Cristina Barrionuevo, Mohamad Karaky, Antonio Catalá-Rabasa, Victor Potenciano, Raquel Bello-Morales, Jose-Antonio López-Guerrero and Antonio Alcina Eur J Hum Genet 2016 24: 1572-1577; advance online publication, May 18, 2016; 10.1038/ejhg.2016.54 Abstract | Full Text ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: a clinical, biochemical and molecular study Massimiliano Filosto, Massimo Aureli, Barbara Castellotti, Fabrizio Rinaldi, Domitilla Schiumarini, Manuela Valsecchi, Susanna Lualdi, Raffaella Mazzotti, Viviana Pensato, Silvia Rota, Cinzia Gellera, Mirella Filocamo and Alessandro Padovani Eur J Hum Genet 2016 24: 1578-1583; advance online publication, March 30, 2016; 10.1038/ejhg.2016.28 Abstract | Full Text Whole-genome sequencing overcomes pseudogene homology to diagnose autosomal dominant polycystic kidney disease Amali C Mallawaarachchi, Yvonne Hort, Mark J Cowley, Mark J McCabe, André Minoche, Marcel E Dinger, John Shine and Timothy J Furlong Eur J Hum Genet 2016 24: 1584-1590; advance online publication, May 11, 2016; 10.1038/ejhg.2016.48 Abstract | Full Text Sensitivity of BRCA1/2 testing in high-risk breast/ovarian/male breast cancer families: little contribution of comprehensive RNA/NGS panel testing Helen Byers, Yvonne Wallis, Elke M van Veen, Fiona Lalloo, Kim Reay, Philip Smith, Andrew J Wallace, Naomi Bowers, William G Newman and D Gareth Evans Eur J Hum Genet 2016 24: 1591-1597; advance online publication, June 8, 2016; 10.1038/ejhg.2016.57 Abstract | Full Text PMS2 inactivation by a complex rearrangement involving an HERV retroelement and the inverted 100-kb duplicon on 7p22.1 Julia Vogt, Annekatrin Wernstedt, Tim Ripperger, Brigitte Pabst, Johannes Zschocke, Christian Kratz and Katharina Wimmer Eur J Hum Genet 2016 24: 1598-1604; advance online publication, June 22, 2016; 10.1038/ejhg.2016.75 Abstract | Full Text Multi-layered population structure in Island Southeast Asians Alexander Mörseburg, Luca Pagani, Francois-Xavier Ricaut, Bryndis Yngvadottir, Eadaoin Harney, Cristina Castillo, Tom Hoogervorst, Tiago Antao, Pradiptajati Kusuma, Nicolas Brucato, Alexia Cardona, Denis Pierron, Thierry Letellier, Joseph Wee, Syafiq Abdullah, Mait Metspalu and Toomas Kivisild Eur J Hum Genet 2016 24: 1605-1611; advance online publication, June 15, 2016; 10.1038/ejhg.2016.60 Abstract | Full Text Short Reports Top A non-coding variant in the 5ʹ UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability Raman Kumar, Thuong Ha, Duyen Pham, Marie Shaw, Marie Mangelsdorf, Kathryn L Friend, Lynne Hobson, Gillian Turner, Jackie Boyle, Michael Field, Anna Hackett, Mark Corbett and Jozef Gecz Eur J Hum Genet 2016 24: 1612-1616; advance online publication, May 25, 2016; 10.1038/ejhg.2016.46 Abstract | Full Text Genomic imprinting of DIO3, a candidate gene for the syndrome associated with human uniparental disomy of chromosome 14 Maria Elena Martinez, David F Cox, Brian P Youth and Arturo Hernandez Eur J Hum Genet 2016 24: 1617-1621; advance online publication, June 22, 2016; 10.1038/ejhg.2016.66 Abstract | Full Text Estrogen-related receptor gamma implicated in a phenotype including hearing loss and mild developmental delay Samantha LP Schilit, Benjamin B Currall, Ruen Yao, Carrie Hanscom, Ryan L Collins, Vamsee Pillalamarri, Dong-Young Lee, Tammy Kammin, Cinthya J Zepeda-Mendoza, Tarja Mononen, Lisa S Nolan, James F Gusella, Michael E Talkowski, Jun Shen and Cynthia C Morton Eur J Hum Genet 2016 24: 1622-1626; advance online publication, July 6, 2016; 10.1038/ejhg.2016.64 Abstract | Full Text Genetic screening of Congenital Short Bowel Syndrome patients confirms CLMP as the major gene involved in the recessive form of this disorder Maria M Alves, Danny Halim, Reza Maroofian, Bianca M de Graaf, Raoul Rooman, Christine S van der Werf, Els Van de Vijver, Mohammad YV Mehrjardi, Majid Aflatoonian, Barry A Chioza, Emma L Baple, Mohammadreza Dehghani, Andrew H Crosby and Robert MW Hofstra Eur J Hum Genet 2016 24: 1627-1629; advance online publication, June 29, 2016; 10.1038/ejhg.2016.58 Abstract | Full Text Identification of partial SLC20A2 deletions in primary brain calcification using whole-exome sequencing Stéphanie David, Joana Ferreira, Olivier Quenez, Anne Rovelet-Lecrux, Anne-Claire Richard, Marc Vérin, Snejana Jurici, Isabelle Le Ber, Anne Boland, Jean- François Deleuze, Thierry Frebourg, João Ricardo Mendes de Oliveira, Didier Hannequin, Dominique Campion and Gaël Nicolas Eur J Hum Genet 2016 24: 1630-1634; advance online publication, June 1, 2016; 10.1038/ejhg.2016.50 Abstract | Full Text Intellectual disability and non-compaction cardiomyopathy with a de novo NONO mutation identified by exome sequencing Eyal Reinstein, Shay Tzur, Rony Cohen, Concetta Bormans and Doron M Behar Eur J Hum Genet 2016 24: 1635-1638; advance online publication, June 22, 2016; 10.1038/ejhg.2016.72 Abstract | Full Text Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS Johannes G Dauwerse, Martine van Belzen, Arie van Haeringen, Gijs van Santen, Christian van de Lans, Elisa Rahikkala, Livia Garavelli, Martijn Breuning, Raoul Hennekam and Dorien Peters Eur J Hum Genet 2016 24: 1639-1643; advance online publication, May 11, 2016; 10.1038/ejhg.2016.47 Abstract | Full Text Digital PCR for discriminating mosaic deletions and for determining proportion of tumor cells in specimen Lan Kluwe Eur J Hum Genet 2016 24: 1644-1648; advance online publication, June 8, 2016; 10.1038/ejhg.2016.56 Abstract | Full Text Clinical Utility Gene Cards Top Clinical utility gene card for: Wolfram syndrome Mariya Moosajee, Patrick Yu-Wai-Man, Cécile Rouzier, Maria Bitner-Glindzicz and Richard Bowman Eur J Hum Genet 2016 24: ; advance online publication, May 25, 2016; 10.1038/ejhg.2016.49 Full Text Clinical utility gene card for: Aniridia Rose Richardson, Melanie Hingorani, Veronica Van Heyningen, Cheryl Gregory-Evans and Mariya Moosajee Eur J Hum Genet 2016 24: ; advance online publication, July 6, 2016; 10.1038/ejhg.2016.73 Full Text Clinical Utility Gene Card for: Congenital Generalized Lipodystrophy Isabelle Jéru, Camille Vatier, David Araujo-Vilar, Corinne Vigouroux and Olivier Lascols Eur J Hum Genet 2016 24: ; advance online publication, May 18, 2016; 10.1038/ejhg.2016.53 Full Text Book Review Top Hereditary Hearing Loss and Its Syndromes Third Edition Hanno J Bolz Eur J Hum Genet 2016 24: 1650; 10.1038/ejhg.2016.67 Full Text Natureevents is a fully searchable, multi-disciplinary database designed to maximise exposure for events organisers. 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