Thursday, August 30, 2018

European Journal of Human Genetics - Table of Contents alert Volume 26 Issue n9

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European Journal of Human Genetics

Volume 26, Issue 9

In this issue
Review Article
Brief Communication
Also new


More than an information service: are counselling skills needed by genetics professionals in the genomic era?

Heather Skirton

European Journal of Human Genetics 2018 26 :1239 - 1240; May 22, 2018; 10.1038/s41431-018-0133-3


Abstract | Full Text

Review Article

Economic evaluation of genomic sequencing in the paediatric population: a critical review

Khurshid Alam & Deborah Schofield

European Journal of Human Genetics 2018 26 :1241 - 1247; May 24, 2018; 10.1038/s41431-018-0175-6


Abstract | Full Text


How are genetic test results being used by Australian life insurers?

K. Barlow-Stewart, M. Liepins, A. Doble & M. Otlowski

European Journal of Human Genetics 2018 26 :1248 - 1256; June 11, 2018; 10.1038/s41431-018-0198-z


Abstract | Full Text

Patient preferences for massively parallel sequencing genetic testing of colorectal cancer risk: a discrete choice experiment

Deirdre Weymann, David L. Veenstra, Gail P. Jarvik & Dean A. Regier

European Journal of Human Genetics 2018 26 :1257 - 1265; May 25, 2018; 10.1038/s41431-018-0161-z


Abstract | Full Text

Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome

Francesco Brancati, Letizia Camerota, Emma Colao, Virginia Vega-Warner, Xiangzhong Zhao et al.

European Journal of Human Genetics 2018 26 :1266 - 1271; June 11, 2018; 10.1038/s41431-018-0183-6


Abstract | Full Text

Phenotypic spectrum of Au–Kline syndrome: a report of six new cases and review of the literature

P. Y. Billie Au, Caitlin Goedhart, Marcia Ferguson, Jeroen Breckpot, Koenraad Devriendt et al.

European Journal of Human Genetics 2018 26 :1272 - 1281; June 14, 2018; 10.1038/s41431-018-0187-2


Abstract | Full Text

Microcephaly, short stature, and limb abnormality disorder due to novel autosomal biallelic DONSON mutations in two German siblings

Solveig Schulz, Martin A. Mensah, Heike de Vries, Rosemarie Fröber, Bernd Romeike et al.

European Journal of Human Genetics 2018 26 :1282 - 1287; May 14, 2018; 10.1038/s41431-018-0128-0


Abstract | Full Text

A three-generation family with metaphyseal dysplasia, maxillary hypoplasia and brachydactyly (MDMHB) due to intragenic RUNX2 duplication

Amina Al-Yassin, Alistair D. Calder, Mike Harrison, Tracy Lester, Helen Lord et al.

European Journal of Human Genetics 2018 26 :1288 - 1293; June 11, 2018; 10.1038/s41431-018-0166-7


Abstract | Full Text

A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy

Svein Isungset Støve, Marina Blenski, Asbjørg Stray-Pedersen, Klaas J. Wierenga, Shalini N. Jhangiani et al.

European Journal of Human Genetics 2018 26 :1294 - 1305; May 10, 2018; 10.1038/s41431-018-0136-0


Abstract | Full Text

SET de novo frameshift variants associated with developmental delay and intellectual disabilities

Ruth Richardson, Miranda Splitt, Ruth Newbury-Ecob, Alice Hulbert, Joanna Kennedy et al.

European Journal of Human Genetics 2018 26 :1306 - 1311; June 15, 2018; 10.1038/s41431-018-0199-y


Abstract | Full Text

Frequency of genetic variants associated with arrhythmogenic right ventricular cardiomyopathy in the genome aggregation database

Charlotte L Hall, Henry Sutanto, Chrysoula Dalageorgou, William John McKenna, Petros Syrris et al.

European Journal of Human Genetics 2018 26 :1312 - 1318; May 25, 2018; 10.1038/s41431-018-0169-4


Abstract | Full Text

Identification of variants in pleiotropic genes causing “isolated” premature ovarian insufficiency: implications for medical practice

Elena J. Tucker, Sonia R. Grover, Gorjana Robevska, Jocelyn van den Bergen, Chloe Hanna et al.

European Journal of Human Genetics 2018 26 :1319 - 1328; April 30, 2018; 10.1038/s41431-018-0140-4


Abstract | Full Text

Broad phenotypes in heterozygous NR5A1 46,XY patients with a disorder of sex development: an oligogenic origin?

Núria Camats, Mónica Fernández-Cancio, Laura Audí, André Schaller & Christa E. Flück

European Journal of Human Genetics 2018 26 :1329 - 1338; June 11, 2018; 10.1038/s41431-018-0202-7


Abstract | Full Text

Clinical progression and metachronous paragangliomas in a large cohort of SDHD germline variant carriers

Berdine L Heesterman, Lisa M H de Pont, Andel GL van der Mey, Jean-Pierre Bayley, Eleonora PM Corssmit et al.

European Journal of Human Genetics 2018 26 :1339 - 1347; May 18, 2018; 10.1038/s41431-018-0116-4


Abstract | Full Text

Clinical and functional characterization of the CDH1 germline variant c.1679C>G in three unrelated families with hereditary diffuse gastric cancer

Laura Pena-Couso, José Perea, Soraia Melo, Fátima Mercadillo, Joana Figueiredo et al.

European Journal of Human Genetics 2018 26 :1348 - 1353; May 16, 2018; 10.1038/s41431-018-0173-8


Abstract | Full Text

Nephronectin (NPNT) and the prediction of nephrotic syndrome response to steroid treatment

Mona Mohamed Watany & Hemat El-Sayed El-Horany

European Journal of Human Genetics 2018 26 :1354 - 1360; June 11, 2018; 10.1038/s41431-018-0182-7


Abstract | Full Text

Trans-eQTLs identified in whole blood have limited influence on complex disease biology

Chloe X Yap, Luke Lloyd-Jones, Alexander Holloway, Peter Smartt, Naomi R Wray et al.

European Journal of Human Genetics 2018 26 :1361 - 1368; June 11, 2018; 10.1038/s41431-018-0174-7


Abstract | Full Text

A fine-mapping study of central obesity loci incorporating functional annotation and imputation

Xiaoyu Zhang, L. Adrienne Cupples & Ching-Ti Liu

European Journal of Human Genetics 2018 26 :1369 - 1377; July 02, 2018; 10.1038/s41431-018-0168-5


Abstract | Full Text

Circulating microRNAs disclose biology of normal cognitive function in healthy elderly people – a discovery twin study

Jonas Mengel-From, Søren Feddersen, Ulrich Halekoh, Niels H. H. Heegaard, Matt McGue et al.

European Journal of Human Genetics 2018 26 :1378 - 1387; May 02, 2018; 10.1038/s41431-018-0157-8


Abstract | Full Text

Brief Communication

A recurrent de novo CUX2 missense variant associated with intellectual disability, seizures, and autism spectrum disorder

Maria Barington, Lotte Risom, Jakob Ek, Peter Uldall & Elsebet Ostergaard

European Journal of Human Genetics 2018 26 :1388 - 1391; May 24, 2018; 10.1038/s41431-018-0184-5


Abstract | Full Text

Uniparental isodisomy as a cause of recessive Mendelian disease: a diagnostic pitfall with a quick and easy solution in medium/large NGS analyses

Florian Erger, Karin Burau, Michael Elsässer, Katharina Zimmermann, Ute Moog et al.

European Journal of Human Genetics 2018 26 :1392 - 1395; June 11, 2018; 10.1038/s41431-018-0195-2


Abstract | Full Text


Correction: Cost of cancer diagnosis using next-generation sequencing targeted gene panels in routine practice: a nationwide French study

Patricia Marino, Rajae Touzani, Lionel Perrier, Etienne Rouleau, Dede Sika Kossi et al.

European Journal of Human Genetics 2018 26 :1396 - 1397; June 15, 2018; 10.1038/s41431-018-0194-3


Abstract | Full Text

Correction: Patient experience and utility of genetic information: a cross-sectional study among patients tested for cancer susceptibility and thrombophilia

Elvira D’Andrea, Tyra Lagerberg, Corrado De Vito, Erica Pitini, Carolina Marzuillo et al.

European Journal of Human Genetics 2018 26 :1398 - 1398; July 06, 2018; 10.1038/s41431-018-0186-3


Abstract | Full Text

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