European Journal of Human Genetics - Table of Contents alert Volume 24 Issue 9

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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 9 (August 2016) In this issue Practical Genetics Viewpoint Articles Short Reports Book Review Corrigendum Also new AOP Sign up for e-alerts Recommend to your library Web feed Subscribe Practical Genetics Top Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND) Sureni V Mullegama and Sarah H Elsea Eur J Hum Genet 2016 24: 1235-1243; advance online publication, May 25, 2016; 10.1038/ejhg.2016.35 Abstract | Full Text Viewpoint Top Marfanoid–progeroid–lipodystrophy syndrome: a newly recognized fibrillinopathy Eberhard Passarge, Peter N Robinson and Luitgard M Graul-Neumann Eur J Hum Genet 2016 24: 1244-1247; advance online publication, February 10, 2016; 10.1038/ejhg.2016.6 Abstract | Full Text Articles Top Improving the informed consent process in international collaborative rare disease research: effective consent for effective researchEJHGOPEN Sabina Gainotti, Cathy Turner, Simon Woods, Anna Kole, Pauline McCormack, Hanns Lochmüller, Olaf Riess, Volker Straub, Manuel Posada, Domenica Taruscio and Deborah Mascalzoni Eur J Hum Genet 2016 24: 1248-1254; advance online publication, February 10, 2016; 10.1038/ejhg.2016.2 Abstract | Full Text Online genetic counseling from the providers’ perspective: counselors’ evaluations and a time and cost analysis Ellen Otten, Erwin Birnie, Adelita V Ranchor and Irene M van Langen Eur J Hum Genet 2016 24: 1255-1261; advance online publication, January 20, 2016; 10.1038/ejhg.2015.283 Abstract | Full Text Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti–Boltshauser syndrome) Alessia Micalizzi, Andrea Poretti, Marta Romani, Monia Ginevrino, Tommaso Mazza, Chiara Aiello, Ginevra Zanni, Bastian Baumgartner, Renato Borgatti, Knut Brockmann, Ana Camacho, Gaetano Cantalupo, Martin Haeusler, Christiane Hikel, Andrea Klein, Giorgia Mandrile, Eugenio Mercuri, Dietz Rating, Romina Romaniello, Filippo Maria Santorelli, Mareike Schimmel, Luigina Spaccini, Serap Teber, Arpad von Moers, Sarah Wente, Andreas Ziegler, Andrea Zonta, Enrico Bertini, Eugen Boltshauser and Enza Maria Valente Eur J Hum Genet 2016 24: 1262-1267; advance online publication, March 2, 2016; 10.1038/ejhg.2016.19 Abstract | Full Text Congenital protein losing enteropathy: an inborn error of lipid metabolism due to DGAT1 mutations Joshi Stephen, Thierry Vilboux, Yael Haberman, Hadass Pri-Chen, Ben Pode-Shakked, Sina Mazaheri, Dina Marek-Yagel, Ortal Barel, Ayelet Di Segni, Eran Eyal, Goni Hout-Siloni, Avishay Lahad, Tzippora Shalem, Gideon Rechavi, May Christine V Malicdan, Batia Weiss, William A Gahl and Yair Anikster Eur J Hum Genet 2016 24: 1268-1273; advance online publication, February 17, 2016; 10.1038/ejhg.2016.5 Abstract | Full Text Against all odds: blended phenotypes of three single-gene defects Yong Li, Anika Salfelder, Karl Otfried Schwab, Sarah Catharina Grünert, Tanja Velten, Dieter Lütjohann, Pablo Villavicencio-Lorini, Uta Matysiak-Scholze, Bernhard Zabel, Anna Köttgen and Ekkehart Lausch Eur J Hum Genet 2016 24: 1274-1279; advance online publication, January 27, 2016; 10.1038/ejhg.2015.285 Abstract | Full Text A maternal deletion upstream of the imprint control region 2 in 11p15 causes loss of methylation and familial Beckwith–Wiedemann syndrome Jasmin Beygo, Ivana Joksic, Tim M Strom, Hermann-Josef Lüdecke, Julia Kolarova, Reiner Siebert, Zeljko Mikovic, Bernhard Horsthemke and Karin Buiting Eur J Hum Genet 2016 24: 1280-1286; advance online publication, February 3, 2016; 10.1038/ejhg.2016.3 Abstract | Full Text A novel kinase mutation in VEGFR-1 predisposes its αC-helix/activation loop towards allosteric activation: Atomic insights from protein simulation Taseem A Mokhdomi, Shoiab Bukhari, Naveed Anjum Chikan, Asif Amin, Asrar H Wafai, Sajad H Wani, Nisar A Chowdri and Raies A Qadri Eur J Hum Genet 2016 24: 1287-1293; advance online publication, April 6, 2016; 10.1038/ejhg.2016.26 Abstract | Full Text Copy number variation of scavenger-receptor cysteine-rich domains within DMBT1 and Crohn’s diseaseEJHGOPEN Shamik Polley, Natalie Prescott, Elaine Nimmo, Colin Veal, Ida Vind, Pia Munkholm, Peder Fode, John Mansfield, Paal Skyt Andersen, Jack Satsangi, Christopher G Mathew and Edward J Hollox Eur J Hum Genet 2016 24: 1294-1300; advance online publication, January 27, 2016; 10.1038/ejhg.2015.280 Abstract | Full Text Comparative transcriptome analysis of muscular dystrophy models Largemyd, Dmdmdx/Largemyd and Dmdmdx: what makes them different? Camila F Almeida, Poliana CM Martins and Mariz Vainzof Eur J Hum Genet 2016 24: 1301-1309; advance online publication, March 2, 2016; 10.1038/ejhg.2016.16 Abstract | Full Text CAG repeat size in Huntingtin alleles is associated with cancer prognosis Morgane Sonia Thion, Sophie Tézenas du Montcel, Jean-Louis Golmard, Sophie Vacher, Laure Barjhoux, Valérie Sornin, Cécile Cazeneuve, Ivan Bièche, Olga Sinilnikova, Dominique Stoppa-Lyonnet, Alexandra Durr and Sandrine Humbert for GEMO Eur J Hum Genet 2016 24: 1310-1315; advance online publication, March 16, 2016; 10.1038/ejhg.2016.13 Abstract | Full Text A family-based, genome-wide association study of young-onset breast cancer: inherited variants and maternally mediated effects Katie M O'Brien, Min Shi, Dale P Sandler, Jack A Taylor, Dmitri V Zaykin, Jean Keller, Alison S Wise and Clarice R Weinberg Eur J Hum Genet 2016 24: 1316-1323; advance online publication, February 17, 2016; 10.1038/ejhg.2016.11 Abstract | Full Text Mutation screening of MIR146A/B and BRCA1/2 3′-UTRs in the GENESIS study Amandine I Garcia, Monique Buisson, Francesca Damiola, Chloé Tessereau, Laure Barjhoux, Carole Verny-Pierre, Valérie Sornin, Marie-Gabrielle Dondon, Séverine Eon-Marchais, GENESIS investigators, Olivier Caron, Marion Gautier-Villars, Isabelle Coupier, Bruno Buecher, Philippe Vennin, Muriel Belotti, Alain Lortholary, Paul Gesta, Catherine Dugast, Catherine Noguès, Jean-Pierre Fricker, Laurence Faivre, Dominique Stoppa-Lyonnet, Nadine Andrieu, Olga M Sinilnikova and Sylvie Mazoyer Eur J Hum Genet 2016 24: 1324-1329; advance online publication, January 20, 2016; 10.1038/ejhg.2015.284 Abstract | Full Text Trans-ethnic study design approaches for fine-mappingEJHGOPEN Jennifer L Asimit, Konstantinos Hatzikotoulas, Mark McCarthy, Andrew P Morris and Eleftheria Zeggini Eur J Hum Genet 2016 24: 1330-1336; advance online publication, February 3, 2016; 10.1038/ejhg.2016.1 Abstract | Full Text Association of the IGF1 gene with fasting insulin levels Sara M Willems, Belinda K Cornes, Jennifer A Brody, Alanna C Morrison, Leonard Lipovich, Marco Dauriz, Yuning Chen, Ching-Ti Liu, Denis V Rybin, Richard A Gibbs, Donna Muzny, James S Pankow, Bruce M Psaty, Eric Boerwinkle, Jerome I Rotter, David S Siscovick, Ramachandran S Vasan, Robert C Kaplan, Aaron Isaacs, Josée Dupuis, Cornelia M van Duijn and James B Meigs Eur J Hum Genet 2016 24: 1337-1343; advance online publication, February 10, 2016; 10.1038/ejhg.2016.4 Abstract | Full Text A method for analyzing multiple continuous phenotypes in rare variant association studies allowing for flexible correlations in variant effectsEJHGOPEN Jianping Sun, Karim Oualkacha, Vincenzo Forgetta, Hou-Feng Zheng, J Brent Richards, Antonio Ciampi, Celia MT Greenwood and UK10K Consortium Eur J Hum Genet 2016 24: 1344-1351; advance online publication, February 10, 2016; 10.1038/ejhg.2016.8 Abstract | Full Text Mayans: a Y chromosome perspective David Perez-Benedico, Joel La Salvia, Zhaoshu Zeng, Giselle A Herrera, Ralph Garcia-Bertrand and Rene J Herrera Eur J Hum Genet 2016 24: 1352-1358; advance online publication, March 9, 2016; 10.1038/ejhg.2016.18 Abstract | Full Text Short Reports Top De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasia Gaetano Terrone, Norine Voisin, Ali Abdullah Alfaiz, Gerarda Cappuccio, Giuseppina Vitiello, Nicolas Guex, Alessandra D’Amico, A James Barkovich, Nicola Brunetti-Pierri, Ennio Del Giudice and Alexandre Reymond Eur J Hum Genet 2016 24: 1359-1362; advance online publication, February 10, 2016; 10.1038/ejhg.2016.7 Abstract | Full Text Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein–Taybi and Filippi syndromes Tamar I de Vries, Glen R Monroe, Martine J van Belzen, Christian A van der Lans, Sanne MC Savelberg, William G Newman, Gijs van Haaften, Rutger A Nievelstein and Mieke M van Haelst Eur J Hum Genet 2016 24: 1363-1366; advance online publication, March 9, 2016; 10.1038/ejhg.2016.14 Abstract | Full Text Genome-wide linkage analysis and whole-genome sequencing identify a recurrent SMARCAD1 variant in a unique Chinese family with Basan syndrome Ming Li, Jianbo Wang, Zhenlu Li, Jia Zhang, Cheng Ni, Ruhong Cheng and Zhirong Yao Eur J Hum Genet 2016 24: 1367-1370; advance online publication, March 2, 2016; 10.1038/ejhg.2016.15 Abstract | Full Text A polymorphic Alu insertion that mediates distinct disease-associated deletions Amir Jahic, Anne K Erichsen, Thomas Deufel, Chantal M Tallaksen and Christian Beetz Eur J Hum Genet 2016 24: 1371-1374; advance online publication, March 2, 2016; 10.1038/ejhg.2016.20 Abstract | Full Text Book Review Top Morphogenesis in a nutshell Anne Slavotinek Eur J Hum Genet 2016 24: 1375; 10.1038/ejhg.2016.10 Full Text Corrigendum Top Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND) Sureni V Mullegama and Sarah H Elsea Eur J Hum Genet 2016 24: 1376; 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