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European Journal of Human Genetics

Volume 26, Issue 8

In this issue
Review Article
Brief Communication
Clinical Utility Gene Card
Also new

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


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

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