Eur. J. Hum. Genet.

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

Year 2024

PubMed DOI Crossref

Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions.

Johansson J, Lidéus S, Frykholm C, ..., Wilbe M, Bondeson ML

Eur. J. Hum. Genet. 32 (3) 333-341 [2024-03-00; online 2023-06-05]

Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Service]

Year 2023

PubMed DOI Crossref

Ribonuclease inhibitor 1 (RNH1) deficiency cause congenital cataracts and global developmental delay with infection-induced psychomotor regression and anemia.

Hedberg-Oldfors C, Mitra S, Molinaro A, ..., Sterky FH, Darin N

Eur. J. Hum. Genet. 31 (8) 887-894 [2023-08-00; online 2023-03-20]

Clinical Genomics [Service] Clinical Genomics Gothenburg [Service]

Year 2021

PubMed DOI Crossref

Phylogenetic history of patrilineages rare in northern and eastern Europe from large-scale re-sequencing of human Y-chromosomes.

Ilumäe AM, Post H, Flores R, ..., Rootsi S, Villems R

Eur. J. Hum. Genet. 29 (10) 1510-1519 [2021-10-00; online 2021-05-07]

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

PubMed DOI Crossref

A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis.

de Boer E, Ockeloen CW, Matalonga L, ..., Verloes A, Vissers LELM

Eur. J. Hum. Genet. 29 (9) 1359-1368 [2021-09-00; online 2021-06-01]

Clinical Genomics [Service] Clinical Genomics Stockholm [Service]

PubMed DOI Crossref

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data.

Matalonga L, Hernández-Ferrer C, Piscia D, ..., Beltran S, Solve-RD Consortia

Eur. J. Hum. Genet. 29 (9) 1337-1347 [2021-09-00; online 2021-06-01]

Clinical Genomics [Service] Clinical Genomics Stockholm [Service]

PubMed DOI Crossref

Taste perception and lifestyle: insights from phenotype and genome data among Africans and Asians.

Sjöstrand AE, Sjödin P, Hegay T, ..., Heyer E, Jakobsson M

Eur. J. Hum. Genet. 29 (2) 325-337 [2021-02-00; online 2020-10-01]

Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

Year 2020

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

Eur. J. Hum. Genet. 28 (5) 627-635 [2020-05-00; online 2019-12-16]

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

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

Eur. J. Hum. Genet. 28 (3) 349-357 [2020-03-00; online 2019-10-25]

Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

Year 2019

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

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

Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

PubMed DOI Crossref

A rare regulatory variant in the MEF2D gene affects gene regulation and splicing and is associated with a SLE sub-phenotype in Swedish cohorts.

Farias FHG, Dahlqvist J, Kozyrev SV, ..., Rönnblom L, Lindblad-Toh K

Eur. J. Hum. Genet. 27 (3) 432-441 [2019-03-00; online 2018-11-20]

Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

PubMed DOI Crossref

Exploring rare and low-frequency variants in the Saguenay-Lac-Saint-Jean population identified genes associated with asthma and allergy traits.

Morin A, Madore AM, Kwan T, ..., Pastinen T, Laprise C

Eur. J. Hum. Genet. 27 (1) 90-101 [2019-01-00; online 2018-09-11]

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

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

Eur. J. Hum. Genet. 26 (12) 1871-1874 [2018-12-00; online 2018-09-24]

Bioinformatics Support for Computational Resources [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

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

Clinical Genomics [Collaborative] 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

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

Bioinformatics (NBIS) [Collaborative] Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support and Infrastructure [Collaborative] Bioinformatics Support for Computational Resources [Service] 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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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