Eur. J. Hum. Genet.

Publications

ISSN	1476-5438
ISSN-L	1018-4813
IUID	79b409bf19904674a0b1bb64d798b8dc
Modified	2020-11-27T13:14:03.986Z
Created	2017-05-09T09:12:27.445Z

21 publications

Year 2020

PubMed DOI Crossref

Longitudinal changes in the frequency of mosaic chromosome Y loss in peripheral blood cells of aging men varies profoundly between individuals.

Danielsson M, Halvardson J, Davies H, ..., Dumanski JP, Forsberg LA

pii: 10.1038/s41431-019-0533-z

Eur. J. Hum. Genet. 28 (3) 349-357 [2020-03-01; online 2019-10-25]

Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

Year 2019

PubMed DOI Crossref

SweHLA: the high confidence HLA typing bio-resource drawn from 1000 Swedish genomes.

Nordin J, Ameur A, Lindblad-Toh K, Gyllensten U, Meadows JRS

pii: 10.1038/s41431-019-0559-2

Eur. J. Hum. Genet. - (-) - [2019-12-16; online 2019-12-16]

NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]

PubMed DOI Crossref

Linkage analysis revealed risk loci on 6p21 and 18p11.2-q11.2 in familial colon and rectal cancer, respectively.

von Holst S, Jiao X, Liu W, ..., Bryant P, Lindblom A

pii: 10.1038/s41431-019-0388-3

Eur. J. Hum. Genet. 27 (8) 1286-1295 [2019-08-00; online 2019-04-05]

Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

Year 2018

PubMed DOI Crossref

Stereocilin gene variants associated with episodic vertigo: expansion of the DFNB16 phenotype.

Frykholm C, Klar J, Tomanovic T, Ameur A, Dahl N

pii: 10.1038/s41431-018-0256-6

Eur. J. Hum. Genet. - (-) - [2018-09-24; online 2018-09-24]

Bioinformatics Compute and Storage [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]

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

pii: 10.1038/s41431-018-0122-6 pmc: PMC5974402

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

Clinical Genomics Gothenburg [Collaborative] Clinical Genomics Stockholm [Service]

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

pii: ejhg2017130 swefreq: swegen

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

Bioinformatics Compute and Storage [Service] Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support and Infrastructure [Collaborative] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Service]

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

pii: ejhg2015267 pmc: PMC4970682

Eur. J. Hum. Genet. 24 (8) 1117-1123 [2016-08-00; online 2016-01-07]

NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]

PubMed DOI Crossref

A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9.

Tham E, Eklund EA, Hammarsjö A, ..., Nishimura G, Grigelioniene G

pii: ejhg201591 pmc: PMC4717212

Eur. J. Hum. Genet. 24 (2) 198-207 [2016-02-00; online 2015-05-15]

Clinical Genomics Stockholm

PubMed DOI Crossref

Association analysis of copy numbers of FC-gamma receptor genes for rheumatoid arthritis and other immune-mediated phenotypes.

Franke L, el Bannoudi H, Jansen DT, ..., Toes RE, Zhernakova A

pii: ejhg201595 pmc: PMC4717214

Eur. J. Hum. Genet. 24 (2) 263-270 [2016-02-00; online 2015-05-15]

NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

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

pii: ejhg201549 pmc: PMC4795199

Eur. J. Hum. Genet. 23 (12) 1679-1683 [2015-12-00; online 2015-03-19]

NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure

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

pii: ejhg2014255 pmc: PMC4538196

Eur. J. Hum. Genet. 23 (9) 1216-1222 [2015-09-00; online 2014-11-20]

Mutation Analysis Facility (MAF) NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure

PubMed DOI Crossref

Dietary fat quality impacts genome-wide DNA methylation patterns in a cross-sectional study of Greek preadolescents.

Voisin S, Almén MS, Moschonis G, ..., Manios Y, Schiöth HB

pii: ejhg2014139 pmc: PMC4402618

Eur. J. Hum. Genet. 23 (5) 654-662 [2015-05-00; online 2014-07-31]

NGI Uppsala (SNP&SEQ Technology Platform) NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure

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

pii: ejhg20145 pmc: PMC4169543

Eur. J. Hum. Genet. 22 (10) 1180-1184 [2014-10-00; online 2014-01-30]

NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure

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

pii: ejhg2012277 pmc: PMC3746253

Eur. J. Hum. Genet. 21 (9) 994-999 [2013-09-00; online 2012-12-20]

NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure

PubMed DOI Crossref

Genome-wide analysis shows association of epigenetic changes in regulators of Rab and Rho GTPases with spinal muscular atrophy severity.

Zheleznyakova GY, Voisin S, Kiselev AV, ..., Baranov VS, Schiöth HB

pii: ejhg2012293 pmc: PMC3746269

Eur. J. Hum. Genet. 21 (9) 988-993 [2013-09-00; online 2013-01-10]

NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure

Year 2012

PubMed DOI Crossref

Association of TMEM18 variants with BMI and waist circumference in children and correlation of mRNA expression in the PFC with body weight in rats.

Rask-Andersen M, Jacobsson JA, Moschonis G, ..., Fredriksson R, Schiöth HB

pii: ejhg2011176 pmc: PMC3262189

Eur. J. Hum. Genet. 20 (2) 192-197 [2012-02-00; online 2011-09-29]

NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure

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 N

pii: ejhg2011138 pmc: PMC3234506

Eur. J. Hum. Genet. 20 (1) 77-83 [2012-01-00; online 2011-08-04]

NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure

Year 2011

PubMed DOI Crossref

Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11.

Wentzel C, Rajcan-Separovic E, Ruivenkamp CA, ..., Giurgea I, Thuresson AC

pii: ejhg201171 pmc: PMC3179368

Eur. J. Hum. Genet. 19 (9) 959-964 [2011-09-00; online 2011-04-28]

Array and Analysis Facility NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure

PubMed DOI Crossref

Genetic architecture of circulating lipid levels.

Demirkan A, Amin N, Isaacs A, ..., van Duijn CM, ENGAGE CONSORTIUM

pii: ejhg201121 pmc: PMC3137496

Eur. J. Hum. Genet. 19 (7) 813-819 [2011-07-00; online 2011-03-30]

NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

PubMed DOI Crossref

The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth.

Lynch SA, Foulds N, Thuresson AC, ..., Ennis S, Sharkey F

pii: ejhg2010215 pmc: PMC3083609

Eur. J. Hum. Genet. 19 (5) 534-539 [2011-05-00; online 2011-01-27]

Array and Analysis Facility NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure

PubMed DOI Crossref

A candidate gene study of the type I interferon pathway implicates IKBKE and IL8 as risk loci for SLE.

Sandling JK, Garnier S, Sigurdsson S, ..., Rönnblom L, Syvänen AC

pii: ejhg2010197 pmc: PMC3060320

Eur. J. Hum. Genet. 19 (4) 479-484 [2011-04-00; online 2010-12-24]

NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure