European Journal of Human Genetics - Table of Contents alert Volume 25 Issue n1

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TABLE OF CONTENTS Volume 25, Issue 1 (January 2016) In this issue Editorial Viewpoint Letter Review Articles Short Reports Also new AOP Sign up for e-alerts Recommend to your library Web feed Subscribe Editorial Top 25 years of the EJHG! Gert-Jan B van Ommen Editor-in-Chief Eur J Hum Genet 2017 25: 1; 10.1038/ejhg.2016.167 Full Text Viewpoint Top Improving the in silico assessment of pathogenicity for compensated variants Luisa Azevedo, Matthew Mort, Antonio C Costa, Raquel M Silva, Dulce Quelhas, Antonio Amorim and David N Cooper Eur J Hum Genet 2016 25: 2-7; advance online publication, October 5, 2016; 10.1038/ejhg.2016.129 Abstract | Full Text Letter Top Copy number variation of the REXO1L1 gene cluster; euchromatic deletion variant or susceptibility factor? John C K Barber, Andrew J Sharp, Edward J Hollox and Christine Tyson Eur J Hum Genet 2016 25: 8-9; advance online publication, August 3, 2016; 10.1038/ejhg.2016.104 Full Text Review Top International differences in the evaluation of conditions for newborn bloodspot screening: a review of scientific literature and policy documents Marleen E Jansen, Selina C Metternick-Jones and Karla J Lister Eur J Hum Genet 2016 25: 10-16; advance online publication, November 16, 2016; 10.1038/ejhg.2016.126 Abstract | Full Text Articles Top Advantages of expanded universal carrier screening: what is at stake? Sanne van der Hout, Kim CA Holtkamp, Lidewij Henneman, Guido de Wert and Wybo J Dondorp Eur J Hum Genet 2016 25: 17-21; advance online publication, September 28, 2016; 10.1038/ejhg.2016.125 Abstract | Full Text Communicating microarray results of uncertain clinical significance in consultation summary letters and implications for practice Jean Lillian Paul, Rachel Pope-Couston, Samantha Wake, Trent Burgess and Tiong Yang Tan Eur J Hum Genet 2016 25: 22-30; advance online publication, November 16, 2016; 10.1038/ejhg.2016.135 Abstract | Full Text Biobank attributes associated with higher patient participation: a randomized study Angèle Gayet-Ageron, Sandrine Rudaz and Thomas Perneger Eur J Hum Genet 2016 25: 31-36; advance online publication, October 5, 2016; 10.1038/ejhg.2016.132 Abstract | Full Text Differential expression of parental alleles of BRCA1 in human preimplantation embryos Pinar Tulay, Alpesh Doshi, Paul Serhal and Sioban B SenGupta Eur J Hum Genet 2016 25: 37-42; advance online publication, September 28, 2016; 10.1038/ejhg.2016.121 Abstract | Full Text Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature Salima El Chehadeh, Wilhelmina S Kerstjens-Frederikse, Julien Thevenon, Paul Kuentz, Ange-Line Bruel, Christel Thauvin-Robinet, Candace Bensignor, Hélène Dollfus, Vincent Laugel, Jean-Baptiste Rivière, Yannis Duffourd, Caroline Bonnet, Matthieu P Robert, Rodica Isaiko, Morgane Straub, Catherine Creuzot-Garcher, Patrick Calvas, Nicolas Chassaing, Bart Loeys, Edwin Reyniers, Geert Vandeweyer, Frank Kooy, Miroslava Hančárová, Marketa Havlovicová, Darina Prchalová, Zdenek Sedláček, Christian Gilissen, Rolph Pfundt, Jolien S Klein Wassink-Ruiter and Laurence Faivre Eur J Hum Genet 2016 25: 43-51; advance online publication, November 2, 2016; 10.1038/ejhg.2016.133 Abstract | Full Text Complete loss of function of the ubiquitin ligase HERC2 causes a severe neurodevelopmental phenotype Fanny Morice-Picard, Giovanni Benard, Hamid R Rezvani, Eulalie Lasseaux, Delphine Simon, Sébastien Moutton, Caroline Rooryck, Didier Lacombe, Clarisse Baumann and Benoit Arveiler Eur J Hum Genet 2016 25: 52-58; advance online publication, October 19, 2016; 10.1038/ejhg.2016.139 Abstract | Full Text The association between WNT10A variants and dental development in patients with isolated oligodontia Brunilda Dhamo, Willem Fennis, Marijn Créton, Strahinja Vucic, Marco Cune, Hans Kristian Ploos van Amstel, Eppo B Wolvius, Marie-José van den Boogaard and Edwin M Ongkosuwito Eur J Hum Genet 2016 25: 59-65; advance online publication, September 21, 2016; 10.1038/ejhg.2016.117 Abstract | Full Text Chromosomal microarray testing in adults with intellectual disability presenting with comorbid psychiatric disordersEJHGOPEN Kate Wolfe, André Strydom, Deborah Morrogh, Jennifer Carter, Peter Cutajar, Mo Eyeoyibo, Angela Hassiotis, Jane McCarthy, Raja Mukherjee, Dimitrios Paschos, Nagarajan Perumal, Stephen Read, Rohit Shankar, Saif Sharif, Suchithra Thirulokachandran, Johan H Thygesen, Christine Patch, Caroline Ogilvie, Frances Flinter, Andrew McQuillin and Nick Bass Eur J Hum Genet 2016 25: 66-72; advance online publication, September 21, 2016; 10.1038/ejhg.2016.107 Abstract | Full Text Variants in SKP1, PROB1, and IL17B genes at keratoconus 5q31.1–q35.3 susceptibility locus identified by whole-exome sequencing Justyna A Karolak, Tomasz Gambin, Jose A Pitarque, Andrea Molinari, Shalini Jhangiani, Pawel Stankiewicz, James R Lupski and Marzena Gajecka Eur J Hum Genet 2016 25: 73-78; advance online publication, October 5, 2016; 10.1038/ejhg.2016.130 Abstract | Full Text Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease Ahmad Alodaib, Nara Sobreira, Wendy A Gold, Lisa G Riley, Nicole J Van Bergen, Meredith J Wilson, Bruce Bennetts, David R Thorburn, Corinne Boehm and John Christodoulou Eur J Hum Genet 2016 25: 79-84; advance online publication, October 19, 2016; 10.1038/ejhg.2016.128 Abstract | Full Text Whole-exome sequencing of Finnish hereditary breast cancer families Kirsi Määttä, Tommi Rantapero, Anna Lindström, Matti Nykter, Minna Kankuri-Tammilehto, Satu-Leena Laasanen and Johanna Schleutker Eur J Hum Genet 2016 25: 85-93; advance online publication, October 26, 2016; 10.1038/ejhg.2016.141 Abstract | Full Text Carriers with functional null mutations in LAMA3 have localized enamel abnormalities due to haploinsufficiency Katarzyna B Gostyńska, Wing Yan Yuen, Anna Maria Gerdina Pasmooij, Cornelius Stellingsma, Hendri H Pas, Henny Lemmink and Marcel F Jonkman Eur J Hum Genet 2016 25: 94-99; advance online publication, November 9, 2016; 10.1038/ejhg.2016.136 Abstract | Full Text Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan Liena E O Elsayed, Inaam N Mohammed, Ahlam A A Hamed, Maha A Elseed, Adam Johnson, Mathilde Mairey, Hassab Elrasoul S A Mohamed, Mohamed N Idris, Mustafa A M Salih, Sarah M El-sadig, Mahmoud E Koko, Ashraf Y O Mohamed, Laure Raymond, Marie Coutelier, Frédéric Darios, Rayan A Siddig, Ahmed K M A Ahmed, Arwa M A Babai, Hiba M O Malik, Zulfa M B M Omer, Eman O E Mohamed, Hanan B Eltahir, Nasr Aldin A Magboul, Elfatih E Bushara, Abdelrahman Elnour, Salah M Abdel Rahim, Abdelmoneim Alattaya, Mustafa I Elbashir, Muntaser E Ibrahim, Alexandra Durr, Anjon Audhya, Alexis Brice, Ammar E Ahmed and Giovanni Stevanin Eur J Hum Genet 2016 25: 100-110; advance online publication, September 7, 2016; 10.1038/ejhg.2016.108 Abstract | Full Text A cross-ethnic survey of CFB and SLC44A4, Indian ulcerative colitis GWAS hits, underscores their potential role in disease susceptibility Aditi Gupta, Garima Juyal, Ajit Sood, Vandana Midha, Keiko Yamazaki, Arnau Vich Vila, Motohiro Esaki, Toshiyuki Matsui, Atsushi Takahashi, Michiaki Kubo, Rinse K Weersma and B K Thelma Eur J Hum Genet 2016 25: 111-122; advance online publication, October 19, 2016; 10.1038/ejhg.2016.131 Abstract | Full Text A pathway-centric approach to rare variant association analysisEJHGOPEN Tom G Richardson, Nicholas J Timpson, Colin Campbell and Tom R Gaunt Eur J Hum Genet 2016 25: 123-129; advance online publication, August 31, 2016; 10.1038/ejhg.2016.113 Abstract | Full Text Joint association analysis of a binary and a quantitative trait in family samples Shuai Wang, James B Meigs and Josée Dupuis Eur J Hum Genet 2016 25: 130-136; advance online publication, October 26, 2016; 10.1038/ejhg.2016.134 Abstract | Full Text Across-cohort QC analyses of GWAS summary statistics from complex traitsEJHGOPEN Guo-Bo Chen, Sang Hong Lee, Matthew R Robinson, Maciej Trzaskowski, Zhi-Xiang Zhu, Thomas W Winkler, Felix R Day, Damien C Croteau-Chonka, Andrew R Wood, Adam E Locke, Zoltán Kutalik, Ruth J F Loos, Timothy M Frayling, Joel N Hirschhorn, Jian Yang, Naomi R Wray, The Genetic Investigation of Anthropometric Traits (GIANT) Consortium21 and Peter M Visscher Eur J Hum Genet 2016 25: 137-146; advance online publication, August 24, 2016; 10.1038/ejhg.2016.106 Abstract | Full Text Short Reports Top A genotypic ascertainment approach to refute the association of MYO1A variants with non-syndromic deafness John Patton, Carmen Brewer, Wade Chien, Jennifer J Johnston, Andrew J Griffith and Leslie G Biesecker Eur J Hum Genet 2016 25: 147-149; advance online publication, October 19, 2016; 10.1038/ejhg.2016.140 Abstract | Full Text Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathy Mathilde Nizon, Benjamin Cogne, Jean-Michel Vallat, Madeleine Joubert, Jean-Michel Liet, Laure Simon, Marie Vincent, Sébastien Küry, Pierre Boisseau, Sébastien Schmitt, Sandra Mercier, Claire Bénéteau, Catherine Larrose, Marianne Coste, Xénia Latypova, Yann Péréon, Jean-Marie Mussini, Stéphane Bézieau and Bertrand Isidor Eur J Hum Genet 2016 25: 150-152; advance online publication, October 26, 2016; 10.1038/ejhg.2016.142 Abstract | Full Text Molecular-genetic characterization and rescue of a TSFM mutation causing childhood-onset ataxia and nonobstructive cardiomyopathy Sonia Emperador, M Pilar Bayona-Bafaluy, Ana Fernández-Marmiesse, Mercedes Pineda, Blanca Felgueroso, Ester López-Gallardo, Rafael Artuch, Iria Roca, Eduardo Ruiz-Pesini, María Luz Couce and Julio Montoya Eur J Hum Genet 2016 25: 153-156; advance online publication, September 28, 2016; 10.1038/ejhg.2016.124 Abstract | Full Text A missense TGFB2 variant p.(Arg320Cys) causes a paradoxical and striking increase in aortic TGFB1/2 expression Raya Al Maskari,  Yasmin, S Cleary, Nikki Figg, Sarju Mehta, Doris Rassl, Ian Wilkinson and Kevin M O’Shaughnessy Eur J Hum Genet 2016 25: 157-160; advance online publication, October 26, 2016; 10.1038/ejhg.2016.143 Abstract | Full Text Natureevents is a fully searchable, multi-disciplinary database designed to maximise exposure for events organisers. 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