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TABLE OF CONTENTS
| | | | Volume 23, Issue 9 (September 2015) | | In this issue Letters Policy Articles Short Reports Clinical Utility Gene Card Updates Corrigenda
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Visit the NPG stand for free journal copies, giveaways and more! | | | | | | Letters | Top | | ZNF277 microdeletions, specific language impairment and the meiotic mismatch methylation (3M) hypothesisMarcus Pembrey, Jean Golding and Jessica Connelly Eur J Hum Genet 2015 23: 1113; advance online publication, December 24, 2014; 10.1038/ejhg.2014.262 Full Text | | | | Reply to Pembrey et al: ‘ZNF277 microdeletions, specific language impairment and the meiotic mismatch methylation (3M) hypothesis’Fabiola Ceroni, Nuala H Simpson, Clyde Francks, Gillian Baird, Gina Conti-Ramsden, Ann Clark, Patrick F Bolton, Elizabeth R Hennessy, Peter Donnelly, David R Bentley, Hilary Martin, IMGSAC, SLI Consortium, WGS500 Consortium, Jeremy Parr, Alistair T Pagnamenta, Elena Maestrini, Elena Bacchelli, Simon E Fisher and Dianne F Newbury Eur J Hum Genet 2015 23: 1113-1115; advance online publication, December 24, 2014; 10.1038/ejhg.2014.275 Full Text | | Policy | Top | | The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseasesEJHGOPENMarina Mora, Corrado Angelini, Fabrizia Bignami, Anne-Mary Bodin, Marco Crimi, Jeanne- Hélène Di Donato, Alex Felice, Cécile Jaeger, Veronika Karcagi, Yann LeCam, Stephen Lynn, Marija Meznaric, Maurizio Moggio, Lucia Monaco, Luisa Politano, Manuel Posada de la Paz, Safaa Saker, Peter Schneiderat, Monica Ensini, Barbara Garavaglia, David Gurwitz, Diana Johnson, Francesco Muntoni, Jack Puymirat, Mojgan Reza, Thomas Voit, Chiara Baldo, Franca Dagna Bricarelli, Stefano Goldwurm, Giuseppe Merla, Elena Pegoraro, Alessandra Renieri, Kurt Zatloukal, Mirella Filocamo and Hanns Lochmüller Eur J Hum Genet 2015 23: 1116-1123; advance online publication, December 24, 2014; 10.1038/ejhg.2014.272 Abstract | Full Text | | Articles | Top | | Maximising the efficiency of clinical screening programmes: balancing predictive genetic testing with a right not to knowEJHGOPENAgnes G Schuurman, Dorina M van der Kolk, Marian A Verkerk, Erwin Birnie, Adelita V Ranchor, Mirjam Plantinga and Irene M van Langen Eur J Hum Genet 2015 23: 1124-1128; advance online publication, January 7, 2015; 10.1038/ejhg.2014.269 Abstract | Full Text | | | | Consent procedures in pediatric biobanksNoor AA Giesbertz, Annelien L Bredenoord and Johannes JM van Delden Eur J Hum Genet 2015 23: 1129-1134; advance online publication, December 24, 2014; 10.1038/ejhg.2014.267 Abstract | Full Text | | | | Capturing the clinical utility of genomic testing: medical recommendations following pediatric microarrayRobin Z Hayeems, Ny Hoang, Sebastien Chenier, Dimitri J Stavropoulos, Shuye Pu, Rosanna Weksberg and Cheryl Shuman Eur J Hum Genet 2015 23: 1135-1141; advance online publication, December 10, 2014; 10.1038/ejhg.2014.260 Abstract | Full Text | | | | Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effectsEJHGOPENTerry Vrijenhoek, Ken Kraaijeveld, Martin Elferink, Joep de Ligt, Elcke Kranendonk, Gijs Santen, Isaac J Nijman, Derek Butler, Godelieve Claes, Adalberto Costessi, Wim Dorlijn, Winfried van Eyndhoven, Dicky J J Halley, Mirjam C G N van den Hout, Steven van Hove, Lennart F Johansson, Jan D H Jongbloed, Rick Kamps, Christel E M Kockx, Bart de Koning, Marjolein Kriek, Ronald Lekanne dit Deprez, Hans Lunstroo, Marcel Mannens, Olaf R Mook, Marcel Nelen, Corrette Ploem, Marco Rijnen, Jasper J Saris, Richard Sinke, Erik Sistermans, Marjon van Slegtenhorst, Frank Sleutels, Nienke van der Stoep, Marianne van Tienhoven, Martijn Vermaat, Maartje Vogel, Quinten Waisfisz, Janneke Marjan Weiss, Arthur van den Wijngaard, Wilbert van Workum, Helger Ijntema, Bert van der Zwaag, Wilfred FJ van IJcken, Johan den Dunnen, Joris A Veltman, Raoul Hennekam and Edwin Cuppen Eur J Hum Genet 2015 23: 1142-1150; advance online publication, January 28, 2015; 10.1038/ejhg.2014.279 Abstract | Full Text | | | | Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequenceM Brigita Tan-Sindhunata, Inge B Mathijssen, Margriet Smit, Frank Baas, Johanna I de Vries, J Patrick van der Voorn, Irma Kluijt, Marleen A Hagen, Eveline W Blom, Erik Sistermans, Hanne Meijers-Heijboer, Quinten Waisfisz, Marjan M Weiss and Alexander J Groffen Eur J Hum Genet 2015 23: 1151-1157; advance online publication, December 24, 2014; 10.1038/ejhg.2014.273 Abstract | Full Text | | | | Confirmation of a founder effect in a Northern European population of a new β-globin variant: HBB:c.23_26dup (codons 8/9 (+AGAA))Nina Marchi, Serge Pissard, Manuel Cliquennois, Christian Vasseur, Nathalie Le Metayer, Claude Mereau, Jean Pierre Jouet, Anne-France Georgel, Emmanuelle Genin and Christian Rose Eur J Hum Genet 2015 23: 1158-1164; advance online publication, December 3, 2014; 10.1038/ejhg.2014.263 Abstract | Full Text | | | | Further delineation of the KAT6B molecular and phenotypic spectrumTamsin Gannon, Rahat Perveen, Hélene Schlecht, Simon Ramsden, Beverley Anderson, Bronwyn Kerr, Ruth Day, Siddharth Banka, Mohnish Suri, Siren Berland, Michael Gabbett, Alan Ma, Stan Lyonnet, Valerie Cormier-Daire, Rüstem Yilmaz, Guntram Borck, Dagmar Wieczorek, Britt-Marie Anderlid, Sarah Smithson, Julie Vogt, Heather Moore-Barton, Pelin Ozlem Simsek-Kiper, Isabelle Maystadt, Anne Destrée, Jessica Bucher, Brad Angle, Shehla Mohammed, Emma Wakeling, Sue Price, Amihood Singer, Yves Sznajer, Annick Toutain, Damien Haye, Ruth Newbury-Ecob, Melanie Fradin, Julie McGaughran, Beyhan Tuysuz, Mark Tein, Katelijne Bouman, Tabib Dabir, Jenneke Van den Ende, Ho Ming Luk, Daniela T Pilz, Jacqueline Eason, Sally Davies, Willie Reardon, Livia Garavelli, Orsetta Zuffardi, Koen Devriendt, Ruth Armstrong, Diana Johnson, Martine Doco-Fenzy, Emilia Bijlsma, Sheila Unger, Hermine E Veenstra-Knol, Jürgen Kohlhase, Ivan FM Lo, DDD study, Janine Smith and Jill Clayton-Smith Eur J Hum Genet 2015 23: 1165-1170; advance online publication, November 26, 2014; 10.1038/ejhg.2014.248 Abstract | Full Text | | | | Deletion of protein tyrosine phosphatase, non-receptor type 4 (PTPN4) in twins with a Rett syndrome-like phenotypeSarah L Williamson, Carolyn J Ellaway, Greg B Peters, Gregory J Pelka, Patrick PL Tam and John Christodoulou Eur J Hum Genet 2015 23: 1171-1175; advance online publication, November 26, 2014; 10.1038/ejhg.2014.249 Abstract | Full Text | | | | Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrationsCharlotte W Ockeloen, Marjolein H Willemsen, Sonja de Munnik, Bregje WM van Bon, Nicole de Leeuw, Aad Verrips, Sarina G Kant, Elizabeth A Jones, Han G Brunner, Rosa LE van Loon, Eric EJ Smeets, Mieke M van Haelst, Gijs van Haaften, Ann Nordgren, Helena Malmgren, Giedre Grigelioniene, Sascha Vermeer, Pedro Louro, Lina Ramos, Thomas JJ Maal, Celeste C van Heumen, Helger G Yntema, Carine EL Carels and Tjitske Kleefstra Eur J Hum Genet 2015 23: 1176-1185; advance online publication, November 26, 2014; 10.1038/ejhg.2014.253 Abstract | Full Text | | | | Identification and molecular characterisation of a homozygous missense mutation in the ADAMTS10 gene in a patient with Weill–Marchesani syndromeHannes Steinkellner, Julia Etzler, Laura Gogoll, Jürgen Neesen, Eva Stifter, Oliver Brandau and Franco Laccone Eur J Hum Genet 2015 23: 1186-1191; advance online publication, December 3, 2014; 10.1038/ejhg.2014.264 Abstract | Full Text | | | | Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severityGemma Bullich, Daniel Trujillano, Sheila Santín, Stephan Ossowski, Santiago Mendizábal, Gloria Fraga, Álvaro Madrid, Gema Ariceta, José Ballarín, Roser Torra, Xavier Estivill and Elisabet Ars Eur J Hum Genet 2015 23: 1192-1199; advance online publication, November 19, 2014; 10.1038/ejhg.2014.252 Abstract | Full Text | | | | Association of rare variation in the glutamate receptor gene SLC1A2 with susceptibility to bipolar disorder and schizophreniaEJHGOPENAlessia Fiorentino, Sally I Sharp and Andrew McQuillin Eur J Hum Genet 2015 23: 1200-1206; advance online publication, November 19, 2014; 10.1038/ejhg.2014.261 Abstract | Full Text | | | | Challenges and solutions for gene identification in the presence of familial locus heterogeneityAtteeq U Rehman, Regie Lyn P Santos-Cortez, Meghan C Drummond, Mohsin Shahzad, Kwanghyuk Lee, Robert J Morell, Muhammad Ansar, Abid Jan, Xin Wang, Abdul Aziz, Saima Riazuddin, Joshua D Smith, Gao T Wang, Zubair M Ahmed, Khitab Gul, A Eliot Shearer, Richard J H Smith, Jay Shendure, Michael J Bamshad, Deborah A Nickerson, University of Washington Center for Mendelian Genomics, John Hinnant, Shaheen N Khan, Rachel A Fisher, Wasim Ahmad, Karen H Friderici, Sheikh Riazuddin, Thomas B Friedman, Ellen S Wilch and Suzanne M Leal Eur J Hum Genet 2015 23: 1207-1215; advance online publication, December 10, 2014; 10.1038/ejhg.2014.266 Abstract | Full Text | | | | Exome sequencing followed by genotyping suggests SYPL2 as a susceptibility gene for morbid obesityHong Jiao, Peter Arner, Paul Gerdhem, Rona J Strawbridge, Erik Näslund, Anders Thorell, Anders Hamsten, Juha Kere and Ingrid Dahlman Eur J Hum Genet 2015 23: 1216-1222; advance online publication, November 19, 2014; 10.1038/ejhg.2014.255 Abstract | Full Text | | | | Heritability of liver enzyme levels estimated from genome-wide SNP dataJenny H D A van Beek, Gitta H Lubke, Marleen H M de Moor, Gonneke Willemsen, Eco J C de Geus, Jouke Jan Hottenga, LivGen consortium, Raymond K Walters, Jan H Smit, Brenda W J H Penninx and Dorret I Boomsma Eur J Hum Genet 2015 23: 1223-1228; advance online publication, November 26, 2014; 10.1038/ejhg.2014.259 Abstract | Full Text | | | | Effects of copy number variable regions on local gene expression in white blood cells of Mexican AmericansAugust Blackburn, Marcio Almeida, Angela Dean, Joanne E Curran, Matthew P Johnson, Eric K Moses, Lawrence J Abraham, Melanie A Carless, Thomas D Dyer, Satish Kumar, Laura Almasy, Michael C Mahaney, Anthony Comuzzie, Sarah Williams-Blangero, John Blangero, Donna M Lehman and Harald H H Göring Eur J Hum Genet 2015 23: 1229-1235; advance online publication, January 14, 2015; 10.1038/ejhg.2014.280 Abstract | Full Text | | | | Isolation and prominent aboriginal maternal legacy in the present-day population of La Gomera (Canary Islands)Rosa Fregel, Vicente M Cabrera, José M Larruga, Juan C Hernández, Alejandro Gámez, Jose J Pestano, Matilde Arnay and Ana M González Eur J Hum Genet 2015 23: 1236-1243; advance online publication, November 19, 2014; 10.1038/ejhg.2014.251 Abstract | Full Text | | | | Resequencing of LPL in African Blacks and associations with lipoprotein–lipid levelsDilek Pirim, Xingbin Wang, Zaheda H Radwan, Vipavee Niemsiri, Clareann H Bunker, M Michael Barmada, M Ilyas Kamboh and F Yesim Demirci Eur J Hum Genet 2015 23: 1244-1253; advance online publication, January 28, 2015; 10.1038/ejhg.2014.268 Abstract | Full Text | | Short Reports | Top | | Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failureMaria Andrea Desbats, Annalisa Vetro, Ivan Limongelli, Giada Lunardi, Alberto Casarin, Mara Doimo, Marco Spinazzi, Corrado Angelini, Giovanna Cenacchi, Alberto Burlina, Maria Angeles Rodriguez Hernandez, Lino Chiandetti, Maurizio Clementi, Eva Trevisson, Placido Navas, Orsetta Zuffardi and Leonardo Salviati Eur J Hum Genet 2015 23: 1254-1258; advance online publication, January 7, 2015; 10.1038/ejhg.2014.277 Abstract | Full Text | | | | Severe hypertriglyceridemia in a patient heterozygous for a lipoprotein lipase gene allele with two novel missense variantsUrsula Kassner, Bastian Salewsky, Marion Wühle-Demuth, Istvan Andras Szijarto, Thomas Grenkowitz, Priska Binner, Winfried März, Elisabeth Steinhagen-Thiessen and Ilja Demuth Eur J Hum Genet 2015 23: 1259-1261; advance online publication, January 14, 2015; 10.1038/ejhg.2014.295 Abstract | Full Text | | | | A human laterality disorder associated with a homozygous WDR16 deletionAsaf Ta-Shma, Zeev Perles, Barak Yaacov, Marion Werner, Ayala Frumkin, Azaria JJT Rein and Orly Elpeleg Eur J Hum Genet 2015 23: 1262-1265; advance online publication, December 3, 2014; 10.1038/ejhg.2014.265 Abstract | Full Text | | | | A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndromeJulie Gauthier, Bouchra Ouled Amar Bencheikh, Fadi F Hamdan, Steven M Harrison, Linda A Baker, Françoise Couture, Isabelle Thiffault, Reda Ouazzani, Mark E Samuels, Grant A Mitchell, Guy A Rouleau, Jacques L Michaud and Jean- François Soucy Eur J Hum Genet 2015 23: 1266-1268; advance online publication, November 19, 2014; 10.1038/ejhg.2014.256 Abstract | Full Text | | Clinical Utility Gene Card Updates | Top | | Clinical utility gene card for: Alport syndrome – update 2014Jens Michael Hertz, Mads Thomassen, Helen Storey and Frances Flinter Eur J Hum Genet 2015 23: ; advance online publication, November 12, 2014; 10.1038/ejhg.2014.254 Full Text | | | | Clinical utility gene card for: Trimethylaminuria – update 2014Elizabeth A Shephard, Eileen P Treacy and Ian R Phillips Eur J Hum Genet 2015 23: ; advance online publication, October 22, 2014; 10.1038/ejhg.2014.226 Full Text | | Corrigenda | Top | | Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effectsTerry Vrijenhoek, Ken Kraaijeveld, Martin Elferink, Joep de Ligt, Elcke Kranendonk, Gijs Santen, Isaac J Nijman, Derek Butler, Godelieve Claes, Adalberto Costessi, Wim Dorlijn, Winfried van Eyndhoven, Dicky JJ Halley, Mirjam CGN van den Hout, Steven van Hove, Lennart F Johansson, Jan DH Jongbloed, Rick Kamps, Christel EM Kockx, Bart de Koning, Marjolein Kriek, Ronald Lekanne dit Deprez, Hans Lunstroo, Marcel Mannens, Olaf R Mook, Marcel Nelen, Corrette Ploem, Marco Rijnen, Jasper J Saris, Richard Sinke, Erik Sistermans, Marjon van Slegtenhorst, Frank Sleutels, Nienke van der Stoep, Marianne van Tienhoven, Martijn Vermaat, Maartje Vogel, Quinten Waisfisz, Janneke Marjan Weiss, Arthur van den Wijngaard, Wilbert van Workum, Helger Ijntema, Bert van der Zwaag, Wilfred FJ van IJcken, Johan T den Dunnen, Joris A Veltman, Raoul Hennekam and Edwin Cuppen Eur J Hum Genet 2015 23: 1270; 10.1038/ejhg.2015.44 Full Text | | | | Further delineation of the KBG syndrome caused by ANKRD11 aberrationsCharlotte W Ockeloen, Marjolein H Willemsen, Sonja de Munnik, Bregje WM van Bon, Nicole de Leeuw, Aad Verrips, Sarina G Kant, Elizabeth A Jones, Han G Brunner, Rosa LE van Loon, Eric EJ Smeets, Mieke M van Haelst, Gijs van Haaften, Ann Nordgren, Helena Malmgren, Giedre Grigelioniene, Sascha Vermeer, Pedro Louro, Lina Ramos, Thomas JJ Maal, Celeste C van Heumen, Helger G Yntema, Carine EL Carels and Tjitske Kleefstra Eur J Hum Genet 2015 23: 1270; 10.1038/ejhg.2015.130 Full Text | | | | | | | | | | | Natureevents is a fully searchable, multi-disciplinary database designed to maximise exposure for events organisers. 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