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2015/08/13

European Journal of Human Genetics - Table of Contents alert Volume 23 Issue 9

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European Journal of Human Genetics

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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

Also new
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Letters

Top

ZNF277 microdeletions, specific language impairment and the meiotic mismatch methylation (3M) hypothesis

Marcus Pembrey, Jean Golding and Jessica Connelly

Eur J Hum Genet 2015 23: 1113; advance online publication, December 24, 2014; 10.1038/ejhg.2014.262

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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 diseasesEJHGOPEN

Marina 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 knowEJHGOPEN

Agnes 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 biobanks

Noor 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 microarray

Robin 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 effectsEJHGOPEN

Terry 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 sequence

M 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 spectrum

Tamsin 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 phenotype

Sarah 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 aberrations

Charlotte 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 syndrome

Hannes 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 severity

Gemma 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 schizophreniaEJHGOPEN

Alessia 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 heterogeneity

Atteeq 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 obesity

Hong 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 data

Jenny 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 Americans

August 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 levels

Dilek 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 failure

Maria 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 variants

Ursula 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 deletion

Asaf 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 syndrome

Julie 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 2014

Jens 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 2014

Elizabeth 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 effects

Terry 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 aberrations

Charlotte 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

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