European Journal of Human Genetics - Table of Contents alert Volume 26 Issue n8

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TABLE OF CONTENTS Volume 26, Issue 8 In this issue Review Article Article Brief Communication Clinical Utility Gene Card Also new AOP   Review Article Germline variants in SMARCB1 and other members of the BAF chromatin-remodeling complex across human disease entities: a meta-analysis Till Holsten, Susanne Bens, Florian Oyen, Karolina Nemes, Martin Hasselblatt et al. European Journal of Human Genetics 2018 26 :1083 - 1093; April 30, 2018; 10.1038/s41431-018-0143-1   Abstract | Full Text Article Distress, uncertainty, and positive experiences associated with receiving information on personal genomic risk of melanoma Amelia K Smit, Ainsley J Newson, Megan Best, Caro-Anne Badcock, Phyllis N Butow et al. European Journal of Human Genetics 2018 26 :1094 - 1100; April 30, 2018; 10.1038/s41431-018-0145-z   Abstract | Full Text Australians’ views on personal genomic testing: focus group findings from the Genioz study Sylvia A Metcalfe, Chriselle Hickerton, Jacqueline Savard, Bronwyn Terrill, Erin Turbitt et al. European Journal of Human Genetics 2018 26 :1101 - 1112; April 30, 2018; 10.1038/s41431-018-0151-1   Abstract | Full Text Functional missense and splicing variants in the retinoic acid catabolizing enzyme CYP26C1 in idiopathic short stature Antonino Montalbano, Lonny Juergensen, Maki Fukami, Christian T Thiel, Nadine H Hauer et al. European Journal of Human Genetics 2018 26 :1113 - 1120; April 30, 2018; 10.1038/s41431-018-0148-9   Abstract | Full Text Comprehensive genomic analysis of patients with disorders of cerebral cortical development Wojciech Wiszniewski, Pawel Gawlinski, Tomasz Gambin, Monika Bekiesinska-Figatowska, Ewa Obersztyn et al. European Journal of Human Genetics 2018 26 :1121 - 1131; April 30, 2018; 10.1038/s41431-018-0137-z   Abstract | Full Text Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1 Stefanie Brock, Katrien Stouffs, Emmanuel Scalais, Marc D’Hooghe, Kathelijn Keymolen et al. European Journal of Human Genetics 2018 26 :1132 - 1142; April 30, 2018; 10.1038/s41431-018-0146-y   Abstract | Full Text RNA analysis of cancer predisposing genes in formalin-fixed paraffin-embedded tissue determines aberrant splicing Anne ML Jansen, Heleen M van der Klift, Marieke AE Roos, Jaap DH van Eendenburg, Carli MJ Tops et al. European Journal of Human Genetics 2018 26 :1143 - 1150; April 30, 2018; 10.1038/s41431-018-0153-z   Abstract | Full Text Distinct variants affecting differential splicing of TGFBR1 exon 5 cause either Loeys–Dietz syndrome or multiple self-healing squamous epithelioma Takayuki Fujiwara, Norifumi Takeda, Hironori Hara, Hiroyuki Morita, Jun Kishihara et al. European Journal of Human Genetics 2018 26 :1151 - 1158; April 30, 2018; 10.1038/s41431-018-0127-1   Abstract | Full Text Carrier frequency analysis of mutations causing autosomal-recessive-inherited retinal diseases in the Israeli population Mor Hanany, Gilad Allon, Adva Kimchi, Anat Blumenfeld, Hadas Newman et al. European Journal of Human Genetics 2018 26 :1159 - 1166; April 30, 2018; 10.1038/s41431-018-0152-0   Abstract | Full Text Whole-genome sequencing reveals new insights into age-related hearing loss: cumulative effects, pleiotropy and the role of selection Dragana Vuckovic, Massimo Mezzavilla, Massimiliano Cocca, Anna Morgan, Marco Brumat et al. European Journal of Human Genetics 2018 26 :1167 - 1179; April 30, 2018; 10.1038/s41431-018-0126-2   Abstract | Full Text A pathogenic role for germline PTEN variants which accumulate into the nucleus Janire Mingo, Isabel Rodríguez-Escudero, Sandra Luna, Teresa Fernández-Acero, Laura Amo et al. European Journal of Human Genetics 2018 26 :1180 - 1187; April 30, 2018; 10.1038/s41431-018-0155-x   Abstract | Full Text Genome-wide linkage analysis in Spanish melanoma-prone families identifies a new familial melanoma susceptibility locus at 11q Miriam Potrony, Joan Anton Puig-Butille, James M. Farnham, Pol Giménez-Xavier, Celia Badenas et al. European Journal of Human Genetics 2018 26 :1188 - 1193; April 30, 2018; 10.1038/s41431-018-0149-8   Abstract | Full Text Are your covariates under control? How normalization can re-introduce covariate effects Oliver Pain, Frank Dudbridge & Angelica Ronald European Journal of Human Genetics 2018 26 :1194 - 1201; April 30, 2018; 10.1038/s41431-018-0159-6   Abstract | Full Text Molecular genetic overlap between migraine and major depressive disorder Yuanhao Yang, Huiying Zhao, Dorret I Boomsma, Lannie Ligthart, Andrea C. Belin et al. European Journal of Human Genetics 2018 26 :1202 - 1216; July 11, 2018; 10.1038/s41431-018-0150-2   Abstract | Full Text Brief Communication Does ATRX germline variation predispose to osteosarcoma? Three additional cases of osteosarcoma in two ATR-X syndrome patients Julien Masliah-Planchon, Dominique Lévy, Delphine Héron, Fabienne Giuliano, Catherine Badens et al. European Journal of Human Genetics 2018 26 :1217 - 1221; April 30, 2018; 10.1038/s41431-018-0147-x   Abstract | Full Text Genes flow by the channels of culture: the genetic imprint of matrilocality in Ngazidja, Comoros Islands Stéphane Mazières, Pauline Oviedo, Célia Kamel, Pascal Bailly, Caroline Costedoat et al. European Journal of Human Genetics 2018 26 :1222 - 1226; April 30, 2018; 10.1038/s41431-018-0154-y   Abstract | Full Text Risk of multiple pancreatic cancers in CDKN2A-p16-Leiden mutation carriers Isaura Ibrahim, Babs G. Sibinga Mulder, Bert Bonsing, Hans Morreau, Arantza Farina Sarasqueta et al. European Journal of Human Genetics 2018 26 :1227 - 1229; May 16, 2018; 10.1038/s41431-018-0170-y   Abstract | Full Text Clinical Utility Gene Card Clinical Utility Gene Card For: GALNT3 defective congenital disorder of glycosylation Jaak Jaeken, Dirk J. Lefeber & Gert Matthijs European Journal of Human Genetics 2018 26 :1230 - 1233; April 23, 2018; 10.1038/s41431-017-0002-5   Abstract | Full Text CUGC for congenital primary aphakia Hajrah Sarkar, William Moore, Bart P Leroy & Mariya Moosajee European Journal of Human Genetics 2018 26 :1234 - 1237; May 16, 2018; 10.1038/s41431-018-0171-x   Abstract | Full Text Advertisement Nature Briefing is an essential round-up of science news, opinion and analysis, free in your inbox every weekday. With Nature Briefing, we'll keep you updated on the latest research, so you can focus on yours. Click here to sign up. Natureevents is a fully searchable, multi-disciplinary database designed to maximise exposure for events organisers. The contents of the Natureevents Directory are now live. The digital version is available here. Find the latest scientific conferences, courses, meetings and symposia on natureevents.com. 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