European Journal of Human Genetics - Table of Contents alert Volume 23 Issue 12

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Up to 200 kb DNA fragments suitable for NGS http://www.chemagen.com/cs200ivd.html TABLE OF CONTENTS Volume 23, Issue 12 (December 2015) In this issue Policy Meeting Report Review Articles Short Reports Clinical Utility Gene Cards Corrigendum Erratum Also new AOP Advertisement   COMPLETE SUCCESS BEGINS WITH NGS SAMPLE QC   The new Agilent 4200 TapeStation system is a complete solution for true end-to-end sample QC within any NGS workflow covering the full DNA and RNA sizing range. You get:  Automated sample processing  Full range of DNA and RNA applications  Flexible sampling from 1 to 96 samples Ready-to-use ScreenTape Download information kit Sign up for e-alerts Recommend to your library Web feed Subscribe Advertisement Why not take a look at EJHG's most cited and downloaded articles? Have a look at the most recently cited and downloaded articles, there may be something you've missed that can help with your research. Click here to access    Policy Top Whole-genome sequencing in newborn screening? A statement on the continued importance of targeted approaches in newborn screening programmesEJHGOPEN Heidi Carmen Howard, Bartha Maria Knoppers, Martina C Cornel, Ellen Wright Clayton, Karine Sénécal, Pascal Borry and endorsed by the European Society of Human Genetics; the P3G International Paediatric Platform; the Human Genome Organisation; and the PHG Foundation Eur J Hum Genet 2015 23: 1593-1600; advance online publication, January 28, 2015; 10.1038/ejhg.2014.289 Abstract | Full Text Meeting Report Top Towards a European consensus for reporting incidental findings during clinical NGS testing Jayne Y Hehir-Kwa, Mireille Claustres, Ros J Hastings, Conny van Ravenswaaij-Arts, Gabrielle Christenhusz, Maurizio Genuardi, Béla Melegh, Anne Cambon-Thomsen, Philippos Patsalis, Joris Vermeesch, Martina C Cornel, Beverly Searle, Aarno Palotie, Ettore Capoluongo, Borut Peterlin, Xavier Estivill and Peter N Robinson Eur J Hum Genet 2015 23: 1601-1606; advance online publication, June 3, 2015; 10.1038/ejhg.2015.111 Abstract | Full Text Review Top Stakeholders’ perspectives on biobank-based genomic research: systematic review of the literature Alma Husedzinovic, Dominik Ose, Christoph Schickhardt, Stefan Fröhling and Eva C Winkler Eur J Hum Genet 2015 23: 1607-1614; advance online publication, March 4, 2015; 10.1038/ejhg.2015.27 Abstract | Full Text Articles Top PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome Julián Nevado, Jill A Rosenfeld, Rocío Mena, María Palomares-Bralo, Elena Vallespín, María Ángeles Mori, Jair A Tenorio, Karen W Gripp, Elizabeth Denenberg, Miguel del Campo, Alberto Plaja, Rubén Martín-Arenas, Fernando Santos-Simarro, Lluis Armengol, Gordon Gowans, María Orera, M Carmen Sanchez-Hombre, Esther Corbacho-Fernández, Alberto Fernández-Jaén, Chad Haldeman-Englert, Sulagna Saitta, Holly Dubbs, Duban B Bénédicte, Xia Li, Lani Devaney, Mary Beth Dinulos, Stephanie Vallee, M Carmen Crespo, Blanca Fernández, Victoria E Fernández-Montaño, Inmaculada Rueda-Arenas, María Luisa de Torres, Jay W Ellison, Salmo Raskin, Carlos A Venegas-Vega, Fernando Fernández-Ramírez, Alicia Delicado, Sixto García-Miñaúr and Pablo Lapunzina Eur J Hum Genet 2015 23: 1615-1626; advance online publication, April 8, 2015; 10.1038/ejhg.2015.51 Abstract | Full Text SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract Christina Evers, Nagarajan Paramasivam, Katrin Hinderhofer, Christine Fischer, Martin Granzow, Annette Schmidt-Bacher, Roland Eils, Herbert Steinbeisser, Matthias Schlesner and Ute Moog Eur J Hum Genet 2015 23: 1627-1633; advance online publication, March 25, 2015; 10.1038/ejhg.2015.46 Abstract | Full Text The lymphatic phenotype in Turner syndrome: an evaluation of nineteen patients and literature review Giles Atton, Kristiana Gordon, Glen Brice, Vaughan Keeley, Katie Riches, Pia Ostergaard, Peter Mortimer and Sahar Mansour Eur J Hum Genet 2015 23: 1634-1639; advance online publication, March 25, 2015; 10.1038/ejhg.2015.41 Abstract | Full Text Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1EJHGOPEN Lemuel Racacho, Ashley M Byrnes, Heather MacDonald, Helen J Dranse, Sarah M Nikkel, Judith Allanson, Elisabeth Rosser, T Michael Underhill and Dennis E Bulman Eur J Hum Genet 2015 23: 1640-1645; advance online publication, March 11, 2015; 10.1038/ejhg.2015.38 Abstract | Full Text Partial USH2A deletions contribute to Usher syndrome in Denmark Shzeena Dad, Nanna D Rendtorff, Erik Kann, Anders Albrechtsen, Mana M Mehrjouy, Mads Bak, Niels Tommerup, Lisbeth Tranebjærg, Thomas Rosenberg, Hanne Jensen and Lisbeth B Møller Eur J Hum Genet 2015 23: 1646-1651; advance online publication, March 25, 2015; 10.1038/ejhg.2015.54 Abstract | Full Text Syndromic X-linked intellectual disability segregating with a missense variant in RLIM Elin Tønne, Rita Holdhus, Christine Stansberg, Asbjørg Stray-Pedersen, Kjell Petersen, Han G Brunner, Christian Gilissen, Alexander Hoischen, Trine Prescott, Vidar M Steen and Torunn Fiskerstrand Eur J Hum Genet 2015 23: 1652-1656; advance online publication, March 4, 2015; 10.1038/ejhg.2015.30 Abstract | Full Text The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers–Danlos syndrome Michael Frank, Juliette Albuisson, Brigitte Ranque, Lisa Golmard, Jean-Michael Mazzella, Laurence Bal-Theoleyre, Anne-Laure Fauret, Tristan Mirault, Nicolas Denarié, Elie Mousseaux, Pierre Boutouyrie, Jean-Noël Fiessinger, Joseph Emmerich, Emmanuel Messas and Xavier Jeunemaitre Eur J Hum Genet 2015 23: 1657-1664; advance online publication, March 11, 2015; 10.1038/ejhg.2015.32 Abstract | Full Text Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2EJHGOPEN David J Kwiatkowski, Michael R Palmer, Sergiusz Jozwiak, John Bissler, David Franz, Scott Segal, David Chen and Julian R Sampson Eur J Hum Genet 2015 23: 1665-1672; advance online publication, March 18, 2015; 10.1038/ejhg.2015.47 Abstract | Full Text A SPRY2 mutation leading to MAPK/ERK pathway inhibition is associated with an autosomal dominant form of IgA nephropathy Annamaria Milillo, Francesca La Carpia, Stefano Costanzi, Vanessa D'Urbano, Maurizio Martini, Paola Lanuti, Gisella Vischini, Luigi M Larocca, Marco Marchisio, Sebastiano Miscia, Antonio Amoroso, Fiorella Gurrieri and Eugenio Sangiorgi Eur J Hum Genet 2015 23: 1673-1678; advance online publication, March 18, 2015; 10.1038/ejhg.2015.52 Abstract | Full Text Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution Joakim Klar, Doroteya Raykova, Elisabet Gustafson, Iveta Tóthová, Adam Ameur, Alkwin Wanders and Niklas Dahl Eur J Hum Genet 2015 23: 1679-1683; advance online publication, March 18, 2015; 10.1038/ejhg.2015.49 Abstract | Full Text Association of mutations in FLNA with craniosynostosis Nathalie Fennell, Nicola Foulds, Diana S Johnson, Louise C Wilson, Michelle Wyatt, Stephen P Robertson, David Johnson, Steven A Wall and Andrew OM Wilkie Eur J Hum Genet 2015 23: 1684-1688; advance online publication, April 15, 2015; 10.1038/ejhg.2015.31 Abstract | Full Text Cerebral visual impairment and intellectual disability caused by PGAP1 variants Daniëlle G M Bosch, F Nienke Boonstra, Taroh Kinoshita, Shalini Jhangiani, Joep de Ligt, Frans P M Cremers, James R Lupski, Yoshiko Murakami and Bert B A de Vries Eur J Hum Genet 2015 23: 1689-1693; advance online publication, March 25, 2015; 10.1038/ejhg.2015.42 Abstract | Full Text Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability Bàrbara Torrico, Noèlia Fernàndez-Castillo, Amaia Hervás, Montserrat Milà, Marta Salgado, Isabel Rueda, Jan K Buitelaar, Nanda Rommelse, Anoek M Oerlemans, Janita Bralten, Christine M Freitag, Andreas Reif, Agatino Battaglia, Luigi Mazzone, Elena Maestrini, Bru Cormand and Claudio Toma Eur J Hum Genet 2015 23: 1694-1701; advance online publication, March 18, 2015; 10.1038/ejhg.2015.37 Abstract | Full Text A de novo FOXP1 variant in a patient with autism, intellectual disability and severe speech and language impairment Reymundo Lozano, Arianna Vino, Cristina Lozano, Simon E Fisher and Pelagia Deriziotis Eur J Hum Genet 2015 23: 1702-1707; advance online publication, April 8, 2015; 10.1038/ejhg.2015.66 Abstract | Full Text Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndrome Lorenzo Ferri, Maria A Donati, Silvia Funghini, Catia Cavicchi, Viviana Pensato, Cinzia Gellera, Federica Natacci, Luigina Spaccini, Serena Gasperini, Frédéric M Vaz, David N Cooper, Renzo Guerrini and Amelia Morrone Eur J Hum Genet 2015 23: 1708-1712; advance online publication, March 18, 2015; 10.1038/ejhg.2015.50 Abstract | Full Text No evidence for increased mortality in SDHD variant carriers compared with the general population Leonie T van Hulsteijn, Berdine Heesterman, Jeroen C Jansen, Jean-Pierre Bayley, Frederik J Hes, Eleonora P M Corssmit and Olaf M Dekkers Eur J Hum Genet 2015 23: 1713-1716; advance online publication, March 11, 2015; 10.1038/ejhg.2015.36 Abstract | Full Text Genome-wide association analysis on five isolated populations identifies variants of the HLA-DOA gene associated with white wine liking Nicola Pirastu, Maarten Kooyman, Michela Traglia, Antonietta Robino, Sara M Willems, Giorgio Pistis, Najaf Amin, Cinzia Sala, Lennart C Karssen, Cornelia M van Duijn, Daniela Toniolo and Paolo Gasparini Eur J Hum Genet 2015 23: 1717-1722; advance online publication, March 11, 2015; 10.1038/ejhg.2015.34 Abstract | Full Text Deciphering associations for lung cancer risk through imputation and analysis of 12 316 cases and 16 831 controls Yufei Wang, Yongyue Wei, Valerie Gaborieau, Jianxin Shi, Younghun Han, Maria N Timofeeva, Li Su, Yafang Li, Timothy Eisen, Christopher I Amos, Maria Teresa Landi, David C Christiani, James D McKay and Richard S Houlston Eur J Hum Genet 2015 23: 1723-1728; advance online publication, March 25, 2015; 10.1038/ejhg.2015.48 Abstract | Full Text Short Reports Top A syndrome of congenital microcephaly, intellectual disability and dysmorphism with a homozygous mutation in FRMD4A Dina Fine, Hagit Flusser, Barak Markus, Zamir Shorer, Libe Gradstein, Shareef Khateeb, Yshia Langer, Ginat Narkis, Ruth Birk, Aharon Galil, Ilan Shelef and Ohad S Birk Eur J Hum Genet 2015 23: 1729-1734; advance online publication, November 12, 2014; 10.1038/ejhg.2014.241 Abstract | Full Text Pathogenic mitochondrial mt-tRNAAla variants are uniquely associated with isolated myopathyEJHGOPEN Diana Lehmann, Kathrin Schubert, Pushpa R Joshi, Steven A Hardy, Helen A L Tuppen, Karen Baty, Emma L Blakely, Christian Bamberg, Stephan Zierz, Marcus Deschauer and Robert W Taylor Eur J Hum Genet 2015 23: 1735-1738; advance online publication, April 15, 2015; 10.1038/ejhg.2015.73 Abstract | Full Text Collapsed haplotype pattern method for linkage analysis of next-generation sequence data Gao T Wang, Di Zhang, Biao Li, Hang Dai and Suzanne M Leal Eur J Hum Genet 2015 23: 1739-1743; advance online publication, April 15, 2015; 10.1038/ejhg.2015.64 Abstract | Full Text Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitusEJHGOPEN Francis H Sansbury, Birgül Kirel, Richard Caswell, Hana Lango Allen, Sarah E Flanagan, Andrew T Hattersley, Sian Ellard and Charles J Shaw-Smith Eur J Hum Genet 2015 23: 1744-1748; advance online publication, August 12, 2015; 10.1038/ejhg.2015.161 Abstract | Full Text Clinical Utility Gene Cards Top Clinical utility gene card for: DPAGT1 defective congenital disorder of glycosylation Jaak Jaeken, Dirk Lefeber and Gert Matthijs Eur J Hum Genet 2015 23: ; advance online publication, August 5, 2015; 10.1038/ejhg.2015.177 Full Text Clinical Utility Gene Card for: autosomal recessive cone-rod dystrophy Maria Pia Manitto, Susanne Roosing, Camiel J F Boon, Eric H Souied, Francesco Bandello and Giuseppe Querques Eur J Hum Genet 2015 23: ; advance online publication, April 15, 2015; 10.1038/ejhg.2015.67 Full Text Corrigendum Top Partial USH2A deletions contribute to Usher syndrome in Denmark Shzeena Dad, Nanna D Rendtorff, Erik Kann, Anders Albrechtsen, Mana M Mehrjouy, Mads Bak, Niels Tommerup, Lisbeth Tranebjærg, Thomas Rosenberg, Hanne Jensen and Lisbeth B Møller Eur J Hum Genet 2015 23: 1750; 10.1038/ejhg.2015.131 Full Text Erratum Top Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus Francis H Sansbury, Birgül Kirel, Richard Caswell, Hana Lango Allen, Sarah E Flanagan, Andrew T Hattersley, Sian Ellard and Charles J Shaw-Smith Eur J Hum Genet 2015 23: 1750; 10.1038/ejhg.2015.208 Full Text Natureevents is a fully searchable, multi-disciplinary database designed to maximise exposure for events organisers. 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