Eur. J. Hum. Genet.

ISSN	1476-5438
ISSN-L	1018-4813
IUID	bd89fb4eea384e2699569b9cae380d91
Modified	2020-11-27T13:12:54.403Z
Created	2018-12-05T08:59:30.348Z

Year 2021

PubMed DOI Crossref

Reply to Veitia.

Danielsson M, Halvardson J, Mattisson J, Forsberg LA

Eur. J. Hum. Genet. 29 (9) 1323-1324 [2021-09-00; online 2021-01-18]

PubMed DOI Crossref

Contributions of de novo variants to systemic lupus erythematosus.

Almlöf JC, Nystedt S, Mechtidou A, ..., Sandling JK, Syvänen AC

Eur. J. Hum. Genet. 29 (1) 184-193 [2021-01-00; online 2020-07-28]

Year 2019

PubMed DOI Crossref

Genetic variation in the Estonian population: pharmacogenomics study of adverse drug effects using electronic health records.

Tasa T, Krebs K, Kals M, ..., Vilo J, Milani L

Eur. J. Hum. Genet. 27 (3) 442-454 [2019-03-00; online 2018-11-12]

PubMed DOI Crossref

Back to the drawing board-loss of chromosome Y (LOY) in leukocytes is associated with age-related macular degeneration.

Forsberg LA

Eur. J. Hum. Genet. 27 (1) 17-19 [2019-01-00; online 2018-10-23]

Year 2018

PubMed DOI Crossref

γ-glutamyl transpeptidase deficiency caused by a large homozygous intragenic deletion in GGT1.

Darin N, Leckström K, Sikora P, ..., Almén G, Asin-Cayuela J

Eur. J. Hum. Genet. 26 (6) 808-817 [2018-06-00; online 2018-02-26]

Affiliated researcher

PubMed DOI Crossref

Novel variants in Nordic patients referred for genetic testing of telomere-related disorders.

Norberg A, Rosén A, Raaschou-Jensen K, ..., Degerman S, Hultdin M

Eur. J. Hum. Genet. 26 (6) 858-867 [2018-06-00; online 2018-02-26]

Affiliated researcher

Year 2017

PubMed DOI Crossref

SweGen: a whole-genome data resource of genetic variability in a cross-section of the Swedish population.

Ameur A, Dahlberg J, Olason P, ..., Magnusson PK, Gyllensten U

Eur. J. Hum. Genet. 25 (11) 1253-1260 [2017-11-00; online 2017-08-23]

Affiliated researcher

PubMed DOI Crossref

A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers.

Klar J, Ali Z, Farooq M, ..., Baig SM, Dahl N

Eur. J. Hum. Genet. 25 (7) 848-853 [2017-06-00; online 2017-05-10]

Affiliated researcher

Year 2016

PubMed DOI Crossref

A novel splicing mutation in the IQSEC2 gene that modulates the phenotype severity in a family with intellectual disability.

Madrigal I, Alvarez-Mora MI, Rosell J, ..., Syvänen AC, Mila M

Eur. J. Hum. Genet. 24 (8) 1117-1123 [2016-08-00; online 2016-01-06]

Affiliated researcher

PubMed DOI Crossref

Harmonising and linking biomedical and clinical data across disparate data archives to enable integrative cross-biobank research.

Spjuth O, Krestyaninova M, Hastings J, ..., Prokopenko I, Harris JR

Eur. J. Hum. Genet. 24 (4) 521-528 [2016-04-00; online 2015-08-26]

Affiliated researcher

Year 2015

PubMed DOI Crossref

Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution.

Klar J, Raykova D, Gustafson E, ..., Wanders A, Dahl N

Eur. J. Hum. Genet. 23 (12) 1679-1683 [2015-12-00; online 2015-03-18]

PubMed DOI Crossref

Exome sequencing followed by genotyping suggests SYPL2 as a susceptibility gene for morbid obesity.

Jiao H, Arner P, Gerdhem P, ..., Kere J, Dahlman I

Eur. J. Hum. Genet. 23 (9) 1216-1222 [2015-09-00; online 2014-11-19]

PubMed DOI Crossref

Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.

Lindahl K, Åström E, Rubin CJ, ..., Ljunggren Ö, Kindmark A

Eur. J. Hum. Genet. 23 (8) 1042-1050 [2015-08-00; online 2015-05-06]

PubMed DOI Crossref

BBMRI-ERIC as a resource for pharmaceutical and life science industries: the development of biobank-based Expert Centres.

van Ommen GJ, Törnwall O, Bréchot C, ..., Litton JE, Zatloukal K

Eur. J. Hum. Genet. 23 (7) 893-900 [2015-07-00; online 2014-11-19]

Year 2014

PubMed DOI Crossref

Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation.

Khan TN, Klar J, Tariq M, ..., Baig SM, Dahl N

Eur. J. Hum. Genet. 22 (10) 1180-1184 [2014-10-00; online 2014-01-29]

PubMed DOI Crossref

Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy.

Spiegel R, Saada A, Halvardson J, ..., Feuk L, Elpeleg O

Eur. J. Hum. Genet. 22 (7) 902-906 [2014-07-00; online 2013-11-27]

Year 2013

PubMed DOI Crossref

Genes identified in Asian SLE GWASs are also associated with SLE in Caucasian populations.

Wang C, Ahlford A, Järvinen TM, ..., Syvänen AC, Sandling JK

Eur. J. Hum. Genet. 21 (9) 994-999 [2013-09-00; online 2012-12-19]

PubMed DOI Crossref

A follow-up linkage study of Finnish pre-eclampsia families identifies a new fetal susceptibility locus on chromosome 18.

Majander KK, Villa PM, Kivinen K, Kere J, Laivuori H

Eur. J. Hum. Genet. 21 (9) 1024-1026 [2013-09-00; online 2013-02-06]

PubMed DOI Crossref

Stronger signal of recent selection for lactase persistence in Maasai than in Europeans.

Schlebusch CM, Sjödin P, Skoglund P, Jakobsson M

Eur. J. Hum. Genet. 21 (5) 550-553 [2013-05-00; online 2012-09-05]

Year 2012

PubMed DOI Crossref

Sequencing of high-complexity DNA pools for identification of nucleotide and structural variants in regions associated with complex traits.

Zaboli G, Ameur A, Igl W, ..., Gyllensten U, EUROSPAN Consortium

Eur. J. Hum. Genet. 20 (1) 77-83 [2012-01-00; online 2011-08-03]