European Journal of Human Genetics - Table of Contents alert Volume 23 Issue 5

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TABLE OF CONTENTS Volume 23, Issue 5 (May 2015) In this issue Letters Articles Short Reports Book Review Corrigendum Also new AOP Sign up for e-alerts Recommend to your library Web feed Subscribe Letters Top The phenotype of congenital insensitivity to pain due to the NaV1.9 variant p.L811P Christopher Geoffrey Woods, Mohamed Osman Eltahir Babiker, Iain Horrocks, John Tolmie and Ingo Kurth Eur J Hum Genet 2015 23: 561-563; advance online publication, August 13, 2014; 10.1038/ejhg.2014.166 Full Text Connexin 26 variant carriers have a better gastrointestinal health: is this the heterozygote advantage? Dragana Vuckovic, Bruno Dallapiccola, Annamaria Franzè, Lucia Mauri, Maria Dolores Perrone and Paolo Gasparini Eur J Hum Genet 2015 23: 563-564; advance online publication, August 6, 2014; 10.1038/ejhg.2014.151 Full Text Reply to ‘The ‘extremely ancient’ chromosome that isn’t’ by Elhaik et al Fernando L Mendez, Krishna R Veeramah, Mark G Thomas, Tatiana M Karafet and Michael F Hammer Eur J Hum Genet 2015 23: 564-567; advance online publication, October 15, 2014; 10.1038/ejhg.2014.148 Full Text Reply to Mendez et al: the ‘extremely ancient’ chromosome that still isn’t Eran Elhaik, Tatiana V Tatarinova, Anatole A Klyosov and Dan Graur Eur J Hum Genet 2015 23: 567-568; advance online publication, October 15, 2014; 10.1038/ejhg.2014.227 Full Text Articles Top Scientists’ perspectives on consent in the context of biobanking research Zubin Master, Lisa Campo-Engelstein and Timothy Caulfield Eur J Hum Genet 2015 23: 569-574; advance online publication, July 30, 2014; 10.1038/ejhg.2014.143 Abstract | Full Text A mixed methods exploration of families’ experiences of the diagnosis of childhood spinal muscular atrophy Sally Lawton, Chriselle Hickerton, Alison D Archibald, Belinda J McClaren and Sylvia A Metcalfe Eur J Hum Genet 2015 23: 575-580; advance online publication, July 30, 2014; 10.1038/ejhg.2014.147 Abstract | Full Text A clinical and genetic analysis of multiple primary cancer referrals to genetics services James Whitworth, Jon Hoffman, Cyril Chapman, Kai Ren Ong, Fiona Lalloo, D Gareth Evans and Eamonn R Maher Eur J Hum Genet 2015 23: 581-587; advance online publication, September 24, 2014; 10.1038/ejhg.2014.157 Abstract | Full Text Evaluation of the Dutch BRCA1/2 clinical genetic center referral criteria in an unselected early breast cancer populationEJHGOPEN Alexandra J van den Broek, Karen de Ruiter, Laura J van 't Veer, Rob A E M Tollenaar, Flora E van Leeuwen, Senno Verhoef and Marjanka K Schmidt Eur J Hum Genet 2015 23: 588-595; advance online publication, August 20, 2014; 10.1038/ejhg.2014.161 Abstract | Full Text Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations? Eric Pasmant, Béatrice Parfait, Armelle Luscan, Philippe Goussard, Audrey Briand-Suleau, Ingrid Laurendeau, Corinne Fouveaut, Chrystel Leroy, Annelore Montadert, Pierre Wolkenstein, Michel Vidaud and Dominique Vidaud Eur J Hum Genet 2015 23: 596-601; advance online publication, July 30, 2014; 10.1038/ejhg.2014.145 Abstract | Full Text De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and femalesEJHGOPEN Bernt Popp, Svein I Støve, Sabine Endele, Line M Myklebust, Juliane Hoyer, Heinrich Sticht, Silvia Azzarello-Burri, Anita Rauch, Thomas Arnesen and André Reis Eur J Hum Genet 2015 23: 602-609; advance online publication, August 6, 2014; 10.1038/ejhg.2014.150 Abstract | Full Text Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature Merel Klaassens, Deborah Morrogh, Elisabeth M Rosser, Fatima Jaffer, Maaike Vreeburg, Levinus A Bok, Tim Segboer, Martine van Belzen, Ros M Quinlivan, Ajith Kumar, Jane A Hurst and Richard H Scott Eur J Hum Genet 2015 23: 610-615; advance online publication, August 13, 2014; 10.1038/ejhg.2014.162 Abstract | Full Text Tectonic gene mutations in patients with Joubert syndrome Peter Huppke, Eike Wegener, Helena Böhrer-Rabel, Hanno J Bolz, Barbara Zoll, Jutta Gärtner and Carsten Bergmann Eur J Hum Genet 2015 23: 616-620; advance online publication, August 13, 2014; 10.1038/ejhg.2014.160 Abstract | Full Text Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity Sophie Thomas, Vincent Cantagrel, Laura Mariani, Valérie Serre, Ji-Eun Lee, Nadia Elkhartoufi, Pascale de Lonlay, Isabelle Desguerre, Arnold Munnich, Nathalie Boddaert, Stanislas Lyonnet, Michel Vekemans, Steven N Lisgo, Tamara Caspary, Joseph Gleeson and Tania Attié-Bitach Eur J Hum Genet 2015 23: 621-627; advance online publication, August 20, 2014; 10.1038/ejhg.2014.156 Abstract | Full Text Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability Sarah Vergult, Annelies Dheedene, Alfred Meurs, Fran Faes, Bertrand Isidor, Sandra Janssens, Agnès Gautier, Cédric Le Caignec and Björn Menten Eur J Hum Genet 2015 23: 628-632; advance online publication, July 30, 2014; 10.1038/ejhg.2014.141 Abstract | Full Text Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome Mateusz Kolanczyk, Peter Krawitz, Jochen Hecht, Anna Hupalowska, Marta Miaczynska, Katrin Marschner, Claire Schlack, Denise Emmerich, Karolina Kobus, Uwe Kornak, Peter N Robinson, Barbara Plecko, Gernot Grangl, Sabine Uhrig, Stefan Mundlos and Denise Horn Eur J Hum Genet 2015 23: 633-638; advance online publication, June 11, 2014; 10.1038/ejhg.2014.109 Abstract | Full Text A missense variant of the ATP1A2 gene is associated with a novel phenotype of progressive sensorineural hearing loss associated with migraine Se-Kyung Oh, Jeong-In Baek, Karl M Weigand, Hanka Venselaar, Herman G P Swarts, Seong-Hyun Park, Muhammad Hashim Raza, Da Jung Jung, Soo-Young Choi, Sang-Heun Lee, Thomas Friedrich, Gert Vriend, Jan B Koenderink, Un-Kyung Kim and Kyu-Yup Lee Eur J Hum Genet 2015 23: 639-645; advance online publication, August 20, 2014; 10.1038/ejhg.2014.154 Abstract | Full Text Parental age effects, but no evidence for an intrauterine effect in the transmission of myotonic dystrophy type 1 Fernando Morales, Melissa Vásquez, Patricia Cuenca, Domingo Campos, Carolina Santamaría, Gerardo del Valle, Roberto Brian, Mauricio Sittenfeld and Darren G Monckton Eur J Hum Genet 2015 23: 646-653; advance online publication, July 23, 2014; 10.1038/ejhg.2014.138 Abstract | Full Text Dietary fat quality impacts genome-wide DNA methylation patterns in a cross-sectional study of Greek preadolescentsEJHGOPEN Sarah Voisin, Markus S Almén, George Moschonis, George P Chrousos, Yannis Manios and Helgi B Schiöth Eur J Hum Genet 2015 23: 654-662; advance online publication, July 30, 2014; 10.1038/ejhg.2014.139 Abstract | Full Text Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility Jia-Chi Wang, Leslie Ross, Loretta W Mahon, Renius Owen, Morteza Hemmat, Boris T Wang, Mohammed El Naggar, Kimberly A Kopita, Linda M Randolph, John M Chase, Maria J Matas Aguilera, Juan López Siles, Joseph A Church, Natalie Hauser, Joseph J Shen, Marilyn C Jones, Klaas J Wierenga, Zhijie Jiang, Mary Haddadin, Fatih Z Boyar, Arturo Anguiano, Charles M Strom and Trilochan Sahoo Eur J Hum Genet 2015 23: 663-671; advance online publication, August 13, 2014; 10.1038/ejhg.2014.153 Abstract | Full Text Genome-wide haplotypic testing in a Finnish cohort identifies a novel association with low-density lipoprotein cholesterol Qian S Zhang, Brian L Browning and Sharon R Browning Eur J Hum Genet 2015 23: 672-677; advance online publication, June 4, 2014; 10.1038/ejhg.2014.105 Abstract | Full Text Identification of possible pathogenic pathways in Behçet’s disease using genome-wide association study data from two different populations Burcu Bakir-Gungor, Elaine F Remmers, Akira Meguro, Nobuhisa Mizuki, Daniel L Kastner, Ahmet Gul and Osman U Sezerman Eur J Hum Genet 2015 23: 678-687; advance online publication, September 17, 2014; 10.1038/ejhg.2014.158 Abstract | Full Text Identity-by-descent mapping in a Scandinavian multiple sclerosis cohortEJHGOPEN Helga Westerlind, Kerstin Imrell, Ryan Ramanujam, Kjell-Morten Myhr, Elisabeth Gulowsen Celius, Hanne F Harbo, Annette Bang Oturai, Anders Hamsten, Lars Alfredsson, Tomas Olsson, Ingrid Kockum, Timo Koski and Jan Hillert Eur J Hum Genet 2015 23: 688-692; advance online publication, August 27, 2014; 10.1038/ejhg.2014.155 Abstract | Full Text Echoes from Sepharad: signatures on the maternal gene pool of crypto-Jewish descendants Inês Nogueiro, João Teixeira, António Amorim, Leonor Gusmão and Luis Alvarez Eur J Hum Genet 2015 23: 693-699; advance online publication, July 30, 2014; 10.1038/ejhg.2014.140 Abstract | Full Text Short Reports Top The FSHB −211G>T variant attenuates serum FSH levels in the supraphysiological gonadotropin setting of Klinefelter syndrome Alexander S Busch, Frank Tüttelmann, Michael Zitzmann, Sabine Kliesch and Jörg Gromoll Eur J Hum Genet 2015 23: 700-703; advance online publication, July 23, 2014; 10.1038/ejhg.2014.142 Abstract | Full Text Characterization of the first intragenic SATB2 duplication in a girl with intellectual disability, nearly absent speech and suspected hypodontia Ann-Sophie Kaiser, Bianca Maas, Anna Wolff, Christian Sutter, Johannes WG Janssen, Katrin Hinderhofer and Ute Moog Eur J Hum Genet 2015 23: 704-707; advance online publication, August 13, 2014; 10.1038/ejhg.2014.163 Abstract | Full Text Common variants modify the age of onset for basal cell carcinomas in Gorlin syndrome Binnaz Yasar, Helen J Byers, Miriam J Smith, John Lear, Deemesh Oudit, Zaynab Bholah, Stephen A Roberts, William G Newman and D Gareth Evans Eur J Hum Genet 2015 23: 708-710; advance online publication, August 27, 2014; 10.1038/ejhg.2014.167 Abstract | Full Text Prospective risk of cancer and the influence of tobacco use in carriers of the p16-Leiden germline variant Thomas P Potjer, Heidi E Kranenburg, Wilma Bergman, Wouter H de Vos tot Nederveen Cappel, Hester S van Monsjou, Daniela Q C M Barge-Schaapveld and Hans F A Vasen Eur J Hum Genet 2015 23: 711-714; advance online publication, September 17, 2014; 10.1038/ejhg.2014.187 Abstract | Full Text Identification of previously unrecognized FAP in children with Gardner fibroma Joana Vieira, Carla Pinto, Mariana Afonso, Maria do Bom Sucesso, Paula Lopes, Manuela Pinheiro, Isabel Veiga, Rui Henrique and Manuel R Teixeira Eur J Hum Genet 2015 23: 715-718; advance online publication, July 30, 2014; 10.1038/ejhg.2014.144 Abstract | Full Text Book Review Top Genetics and Genomics in Medicine Albert Schinzel Eur J Hum Genet 2015 23: 719; 10.1038/ejhg.2015.18 Full Text Corrigendum Top Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome Mateusz Kolanczyk, Peter Krawitz, Jochen Hecht, Anna Hupalowska, Marta Miaczynska, Katrin Marschner, Claire Schlack, Denise Emmerich, Karolina Kobus, Uwe Kornak, Peter N Robinson, Barbara Plecko, Gernot Grangl, Sabine Uhrig, Stefan Mundlos and Denise Horn Eur J Hum Genet 2015 23: 720; 10.1038/ejhg.2014.278 Full Text Natureevents is a fully searchable, multi-disciplinary database designed to maximise exposure for events organisers. 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