European Journal of Human Genetics - Table of Contents alert Volume 25 Issue n4

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TABLE OF CONTENTS Volume 25, Issue 4 (April 2017) In this issue Letter Articles Short Report Clinical Utility Gene Cards Also new AOP Sign up for e-alerts Recommend to your library Web feed Subscribe Letter Top From exomes to genomes: challenges and solutions in population-based genetic association studies Paul L Auer and Suzanne M Leal Eur J Hum Genet 2017 25: 395-396; advance online publication, January 25, 2017; 10.1038/ejhg.2016.206 Full Text Articles Top Psychosocial effects in parents and children 12 years after newborn genetic screening for type 1 diabetes Nicola J Kerruish, Dione M Healey and Andrew R Gray Eur J Hum Genet 2017 25: 397-403; advance online publication, January 25, 2017; 10.1038/ejhg.2016.190 Abstract | Full Text Post-mortem whole-exome analysis in a large sudden infant death syndrome cohort with a focus on cardiovascular and metabolic genetic diseases Jacqueline Neubauer, Maria Rita Lecca, Giancarlo Russo, Christine Bartsch, Argelia Medeiros-Domingo, Wolfgang Berger and Cordula Haas Eur J Hum Genet 2017 25: 404-409; advance online publication, January 11, 2017; 10.1038/ejhg.2016.199 Abstract | Full Text Variability in assigning pathogenicity to incidental findings: insights from LDLR sequence linked to the electronic health record in 1013 individuals Maya S Safarova, Eric W Klee, Linnea M Baudhuin, Erin M Winkler, Michelle L Kluge, Suzette J Bielinski, Janet E Olson and Iftikhar J Kullo Eur J Hum Genet 2017 25: 410-415; advance online publication, February 1, 2017; 10.1038/ejhg.2016.193 Abstract | Full Text Non-invasive prenatal diagnosis of spinal muscular atrophy by relative haplotype dosageEJHGOPEN Michael Parks, Samantha Court, Benjamin Bowns, Siobhan Cleary, Samuel Clokie, Julie Hewitt, Denise Williams, Trevor Cole, Fiona MacDonald, Mike Griffiths and Stephanie Allen Eur J Hum Genet 2017 25: 416-422; advance online publication, January 25, 2017; 10.1038/ejhg.2016.195 Abstract | Full Text Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome Angélique Quartier, Hélène Poquet, Brigitte Gilbert-Dussardier, Massimiliano Rossi, Anne-Sophie Casteleyn, Vincent des Portes, Claire Feger, Elsa Nourisson, Paul Kuentz, Claire Redin, Julien Thevenon, Anne-Laure Mosca-Boidron, Patrick Callier, Jean Muller, Gaetan Lesca, Frédéric Huet, Véronique Geoffroy, Salima El Chehadeh, Matthieu Jung, Benoit Trojak, Stéphanie Le Gras, Daphné Lehalle, Bernard Jost, Stéphanie Maury, Alice Masurel, Patrick Edery, Christel Thauvin-Robinet, Bénédicte Gérard, Jean-Louis Mandel, Laurence Faivre and Amélie Piton Eur J Hum Genet 2017 25: 423-431; advance online publication, February 8, 2017; 10.1038/ejhg.2016.204 Abstract | Full Text Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriersEJHGOPEN Logan C Walker, Louise Marquart, John F Pearson, George A R Wiggins, Tracy A O'Mara, Michael T Parsons, BCFR, Daniel Barrowdale, Lesley McGuffog, Joe Dennis, Javier Benitez, Thomas P Slavin, Paolo Radice, Debra Frost, EMBRACE, Andrew K Godwin, Alfons Meindl, Rita Katharina Schmutzler, GEMO Study Collaborators, Claudine Isaacs, Beth N Peshkin, Trinidad Caldes, Frans BL Hogervorst, HEBON, Conxi Lazaro, Anna Jakubowska, Marco Montagna, KConFab Investigators, Xiaoqing Chen, Kenneth Offit, Peter J Hulick, Irene L Andrulis, Annika Lindblom, Robert L Nussbaum, Katherine L Nathanson, Georgia Chenevix-Trench, Antonis C Antoniou, Fergus J Couch and Amanda B Spurdle Eur J Hum Genet 2017 25: 432-438; advance online publication, February 1, 2017; 10.1038/ejhg.2016.203 Abstract | Full Text Suggestive association between variants in IL1RAPL and asthma symptoms in Latin American children Cintia Rodrigues Marques, Gustavo NO Costa, Thiago Magalhães da Silva, Pablo Oliveira, Alvaro A Cruz, Neuza Maria Alcantara-Neves, Rosemeire L Fiaccone, Bernardo L Horta, Fernando Pires Hartwig, Esteban G Burchard, Maria Pino-Yanes, Laura C Rodrigues, Maria Fernanda Lima-Costa, Alexandre C Pereira, Mateus H Gouveia, Hanaisa P Sant Anna, Eduardo Tarazona-Santos, Maurício Lima Barreto and Camila Alexandrina Figueiredo Eur J Hum Genet 2017 25: 439-445; advance online publication, January 25, 2017; 10.1038/ejhg.2016.197 Abstract | Full Text Genome-wide association scan of neuropathic pain symptoms post total joint replacement highlights a variant in the protein-kinase C gene Sophie C Warner, Joyce BJ van Meurs, Dieuwke Schiphof, Sita M Bierma-Zeinstra, Albert Hofman, Andre G Uitterlinden, Helen Richardson, Wendy Jenkins, Michael Doherty and Ana M Valdes Eur J Hum Genet 2017 25: 446-451; advance online publication, January 4, 2017; 10.1038/ejhg.2016.196 Abstract | Full Text Association analysis of dyslexia candidate genes in a Dutch longitudinal sample Amaia Carrion-Castillo, Ben Maassen, Barbara Franke, Angelien Heister, Marlies Naber, Aryan van der Leij, Clyde Francks and Simon E Fisher Eur J Hum Genet 2017 25: 452-460; advance online publication, January 11, 2017; 10.1038/ejhg.2016.194 Abstract | Full Text Identification and population history of CYP4V2 mutations in patients with Bietti crystalline corneoretinal dystrophy Xiaodong Jiao, Anren Li, Zi-Bing Jin, Xinjing Wang, Alessandro Iannaccone, Elias I Traboulsi, Michael B Gorin, Francesca Simonelli and J Fielding Hejtmancik Eur J Hum Genet 2017 25: 461-471; advance online publication, January 4, 2017; 10.1038/ejhg.2016.184 Abstract | Full Text A survey of sub-Saharan gene flow into the Mediterranean at risk loci for coronary artery disease Miguel M Álvarez-Álvarez, Daniela Zanetti, Robert Carreras-Torres, Pedro Moral and Georgios Athanasiadis Eur J Hum Genet 2017 25: 472-476; advance online publication, January 18, 2017; 10.1038/ejhg.2016.200 Abstract | Full Text Whole-genome view of the consequences of a population bottleneck using 2926 genome sequences from Finland and United KingdomEJHGOPEN Himanshu Chheda, Priit Palta, Matti Pirinen, Shane McCarthy, Klaudia Walter, Seppo Koskinen, Veikko Salomaa, Mark Daly, Richard Durbin, Aarno Palotie, Tero Aittokallio and Samuli Ripatti for the Sequencing Initiative Suomi (SISu) Project Eur J Hum Genet 2017 25: 477-484; advance online publication, February 1, 2017; 10.1038/ejhg.2016.205 Abstract | Full Text Signatures of human European Palaeolithic expansion shown by resequencing of non-recombining X-chromosome segmentsEJHGOPEN Pierpaolo Maisano Delser, Rita Neumann, Stéphane Ballereau, Pille Hallast, Chiara Batini, Daniel Zadik and Mark A Jobling Eur J Hum Genet 2017 25: 485-492; advance online publication, January 25, 2017; 10.1038/ejhg.2016.207 Abstract | Full Text Reconstructing the population history of the largest tribe of India: the Dravidian speaking Gond Gyaneshwer Chaubey, Rakesh Tamang, Erwan Pennarun, Pavan Dubey, Niraj Rai, Rakesh Kumar Upadhyay, Rajendra Prasad Meena, Jayanti R Patel, George van Driem, Kumarasamy Thangaraj, Mait Metspalu and Richard Villems Eur J Hum Genet 2017 25: 493-498; advance online publication, February 1, 2017; 10.1038/ejhg.2016.198 Abstract | Full Text Characterising private and shared signatures of positive selection in 37 Asian populations Xuanyao Liu, Dongsheng Lu, Woei-Yuh Saw, Philip J Shaw, Pongsakorn Wangkumhang, Chumpol Ngamphiw, Suthat Fucharoen, Worachart Lert-itthiporn, Kwanrutai Chin-inmanu, Tran Nguyen Bich Chau, Katie Anders, Anuradhani Kasturiratne, H Janaka de Silva, Tomohiro Katsuya, Ryosuke Kimura, Toru Nabika, Takayoshi Ohkubo, Yasuharu Tabara, Fumihiko Takeuchi, Ken Yamamoto, Mitsuhiro Yokota, Dolikun Mamatyusupu, Wenjun Yang, Yeun-Jun Chung, Li Jin, Boon-Peng Hoh, Ananda R Wickremasinghe, RickTwee-Hee Ong, Chiea-Chuen Khor, Sarah J Dunstan, Cameron Simmons, Sissades Tongsima, Prapat Suriyaphol, Norihiro Kato, Shuhua Xu and Yik-Ying Teo Eur J Hum Genet 2017 25: 499-508; advance online publication, January 18, 2017; 10.1038/ejhg.2016.181 Abstract | Full Text Short Report Top Juvenile myelomonocytic leukemia-associated variants are associated with neo-natal lethal Noonan syndrome Heather Mason-Suares, Diana Toledo, Jean Gekas, Katherine A Lafferty, Naomi Meeks, M Cristina Pacheco, David Sharpe, Thomas E Mullen and Matthew S Lebo Eur J Hum Genet 2017 25: 509-511; advance online publication, January 18, 2017; 10.1038/ejhg.2016.202 Abstract | Full Text Clinical Utility Gene Cards Top Clinical utility gene card for: Cantú syndrome Edwin P Kirk, Ingrid Scurr, Gijs van Haaften, Mieke M van Haelst, Colin G Nichols, Maggie Williams, Sarah F Smithson and Dorothy K Grange Eur J Hum Genet 2017 25: ; advance online publication, January 4, 2017; 10.1038/ejhg.2016.185 Full Text Clinical utility gene card for: Non-Syndromic Microphthalmia Including Next-Generation Sequencing-Based Approaches Rose Richardson, Jane Sowden, Christina Gerth-Kahlert, Anthony T Moore and Mariya Moosajee Eur J Hum Genet 2017 25: ; advance online publication, January 18, 2017; 10.1038/ejhg.2016.201 Full Text Clinical utility gene card for: Sitosterolaemia Amanda J Hooper, Damon A Bell, Robert A Hegele and John R Burnett Eur J Hum Genet 2017 25: ; advance online publication, December 28, 2016; 10.1038/ejhg.2016.187 Full Text Natureevents is a fully searchable, multi-disciplinary database designed to maximise exposure for events organisers. 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