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Genome Med
JSON
ISSN
1756-994X
ISSN-L
1756-994X
IUID
a31f445f31764e128bdff346ac4ebcf2
Modified
2020-11-27T13:14:06.939Z
Created
2017-05-09T09:12:27.685Z
Year 2023
PubMed
DOI
Crossref
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19
Matuozzo D
, Talouarn E,
Marchal A
, ...,
Abel L
,
Cobat A
Genome Med
15
(1) - [2023-04-05; online 2023-04-05]
Clinical Genomics Stockholm [Service]
Year 2022
PubMed
DOI
Crossref
Loss of Y in leukocytes as a risk factor for critical COVID-19 in men
Bruhn-Olszewska B
,
Davies H
,
Sarkisyan D
, ...,
Frithiof R
,
Dumanski JP
Genome Med
14
(1) 139 [2022-12-14; online 2022-12-14]
Bioinformatics Long-term Support WABI [Collaborative]
Bioinformatics Support and Infrastructure [Collaborative]
Bioinformatics Support, Infrastructure and Training [Collaborative]
Year 2021
PubMed
DOI
Crossref
A community-driven resource for genomic epidemiology and antimicrobial resistance prediction of Neisseria gonorrhoeae at Pathogenwatch.
Sánchez-Busó L
, Yeats CA, Taylor B, ..., Unemo M, Aanensen DM
Genome Med
13
(1) 61 [2021-04-19; online 2021-04-19]
Clinical Genomics Örebro [Collaborative]
PubMed
DOI
Crossref
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.
Gillentine MA, Wang T, Hoekzema K, ..., Bernier RA,
Eichler EE
Genome Med
13
(1) 63 [2021-04-19; online 2021-04-19]
Clinical Genomics Stockholm [Service]
PubMed
DOI
Crossref
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H, Lagerstedt-Robinson K, Magnusson M, ..., Lindstrand A,
Wedell A
Genome Med
13
(1) 40 [2021-03-17; online 2021-03-17]
Clinical Genomics Stockholm [Collaborative]
Year 2020
PubMed
DOI
Crossref
Whole blood co-expression modules associate with metabolic traits and type 2 diabetes: an IMI-DIRECT study.
Gudmundsdottir V, Pedersen HK, Mazzoni G, ..., Pedersen O,
Brunak S
Genome Med
12
(1) 109 [2020-12-01; online 2020-12-01]
Affinity Proteomics Stockholm [Collaborative]
PubMed
DOI
Crossref
Whole-genome sequence association analysis of blood proteins in a longitudinal wellness cohort.
Zhong W, Gummesson A, Tebani A, ..., Fagerberg L,
Uhlén M
Genome Med
12
(1) 53 [2020-06-23; online 2020-06-23]
Affinity Proteomics Stockholm [Collaborative]
Bioinformatics Support for Computational Resources [Service]
Year 2019
PubMed
DOI
Crossref
From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability.
Lindstrand A
, Eisfeldt J, Pettersson M, ..., Lundin J, Nilsson D
Genome Med
11
(1) 68 [2019-11-07; online 2019-11-07]
Bioinformatics Long-term Support WABI [Collaborative]
Bioinformatics Support for Computational Resources [Service]
Bioinformatics Support, Infrastructure and Training [Collaborative]
Clinical Genomics Stockholm [Technology development]
NGI Stockholm (Genomics Applications) [Service]
NGI Stockholm (Genomics Production) [Service]
National Genomics Infrastructure [Service]
Year 2018
PubMed
DOI
Crossref
Linking FOXO3, NCOA3, and TCF7L2 to Ras pathway phenotypes through a genome-wide forward genetic screen in human colorectal cancer cells
Kundu S, Ali MA, Handin N, ..., Hellström M, Sjöblom T
Genome Med
10
(1) - [2018-12-00; online 2018-01-04]
Bioinformatics Support for Computational Resources [Service]
NGI Uppsala (SNP&SEQ Technology Platform) [Service]
National Genomics Infrastructure [Service]
PubMed
DOI
Crossref
Cell-free DNA profiling of metastatic prostate cancer reveals microsatellite instability, structural rearrangements and clonal hematopoiesis.
Mayrhofer M, De Laere B, Whitington T, ..., Grönberg H, Lindberg J
Genome Med
10
(1) 85 [2018-11-21; online 2018-05-11]
Bioinformatics Support for Computational Resources [Service]
Clinical Genomics Stockholm [Service]
Year 2017
PubMed
DOI
Crossref
Type 2 diabetes and obesity induce similar transcriptional reprogramming in human myocytes.
Väremo L, Henriksen TI, Scheele C, ..., Pedersen BK,
Nielsen J
Genome Med
9
(1) 47 [2017-05-25; online 2017-05-25]
Bioinformatics Support for Computational Resources [Service]
NGI Stockholm (Genomics Applications) [Service]
NGI Stockholm (Genomics Production) [Service]
National Genomics Infrastructure [Service]
Year 2015
PubMed
DOI
Crossref
Many obesity-associated SNPs strongly associate with DNA methylation changes at proximal promoters and enhancers.
Voisin S, Almén MS, Zheleznyakova GY, ..., Rask-Andersen M, Schiöth HB
Genome Med
7
(-) 103 [2015-10-08; online 2015-10-08]
NGI Uppsala (SNP&SEQ Technology Platform)
National Genomics Infrastructure
Year 2012
PubMed
DOI
Crossref
Comprehensive analysis of the genome transcriptome and proteome landscapes of three tumor cell lines.
Akan P, Alexeyenko A, Costea PI, ...,
Uhlén M
,
Lundeberg J
Genome Med
4
(11) 86 [2012-11-18; online 2012-11-18]
NGI Stockholm (Genomics Applications)
NGI Stockholm (Genomics Production)
National Genomics Infrastructure
Spatial Proteomics
SciLifeLab Data Centre
Publications
9.5.0