Clinical Genomics Gothenburg

Adipokines and risk of rheumatoid arthritis: A two-sample multivariable Mendelian randomisation study.

Vasileiadis GK, Sayols S, Zhao SS, Fatima T, Maglio C

PLoS ONE 18 (6) e0286981 [2023-06-09; online 2023-06-09]

Epidemiology, validation, and clinical characteristics of inflammatory bowel disease: the ABIS birth cohort study.

Östensson M, Björkqvist O, Guo A, ..., Mårild K, Ludvigsson J

BMC Gastroenterol 23 (1) 199 [2023-06-08; online 2023-06-08]

Development of a machine learning framework for radiation biomarker discovery and absorbed dose prediction.

Andersson B, Langen B, Liu P, Dávila López M

Front Oncol 13 (-) 1156009 [2023-05-15; online 2023-05-15]

Clinical Genomics Gothenburg [Technology development]

Overweight in childhood and young adulthood increases the risk for adult thromboembolic events.

Lilja L, Bygdell M, Martikainen J, ..., Kindblom JM, Ohlsson C

J. Intern. Med. 293 (5) 615-623 [2023-05-00; online 2023-03-01]

B4GALNT3 regulates glycosylation of sclerostin and bone mass.

Movérare-Skrtic S, Voelkl J, Nilsson KH, ..., Henning P, Ohlsson C

EBioMedicine 91 (-) 104546 [2023-05-00; online 2023-04-04]

Transcriptomics unravels molecular changes associated with cilia and COVID-19 in chronic rhinosinusitis with nasal polyps.

Torinsson Naluai Å, Östensson M, Fowler PC, ..., Harandi AM, Bende M

Sci Rep 13 (1) 6592 [2023-04-21; online 2023-04-21]

Identification of three bacterial species associated with increased appendicular lean mass: the HUNT study.

Grahnemo L, Nethander M, Coward E, ..., Hveem K, Ohlsson C

Nat Commun 14 (1) 2250 [2023-04-20; online 2023-04-20]

C-type lectin receptor agonists elicit functional IL21-expressing Tfh cells and induce primary B cell responses in neonates.

Vono M, Mastelic-Gavillet B, Mohr E, ..., Lambert PH, Siegrist CA

Front Immunol 14 (-) 1155200 [2023-03-31; online 2023-03-31]

Melatonin Prescription in Children and Adolescents in Relation to Body Weight and Age.

Kimland EE, Dahlén E, Martikainen J, Célind J, Kindblom JM

Pharmaceuticals (Basel) 16 (3) - [2023-03-06; online 2023-03-06]

Responses of carbapenemase-producing and non-producing carbapenem-resistant Pseudomonas aeruginosa strains to meropenem revealed by quantitative tandem mass spectrometry proteomics.

Salvà-Serra F, Jaén-Luchoro D, Marathe NP, ..., Moore ERB, Karlsson R

Front Microbiol 13 (-) 1089140 [2023-02-09; online 2023-02-09]

The injury-induced transcription factor SOX9 alters the expression of LBR, HMGA2, and HIPK3 in the human kidney.

Kha M, Krawczyk K, Choong OK, ..., Swärd K, Johansson ME

Am. J. Physiol. Renal Physiol. 324 (1) F75-F90 [2023-01-01; online 2022-12-01]

Clinical Genomics Gothenburg [Service] Clinical Genomics Lund [Service]

Year 2022

Fusion transcript analysis reveals slower response kinetics than multiparameter flow cytometry in childhood acute myeloid leukaemia.

Karlsson L, Nyvold CG, Soboli A, ..., Abrahamsson J, Fogelstrand L

Int J Lab Hematol 44 (6) 1094-1101 [2022-12-00; online 2022-08-02]

A comprehensive characterisation of patients diagnosed with post-COVID-19 condition in Sweden 16 months after the introduction of the ICD-10 diagnosis code (U09.9): a population-based cohort study.

Bygdell M, Leach S, Lundberg L, ..., Gisslén M, Nyberg F

Int J Infect Dis - (-) - [2022-11-18; online 2022-11-18]

Self-reported symptom severity, general health, and impairment in post-acute phases of COVID-19: retrospective cohort study of Swedish public employees.

Larsson SB, von Feilitzen GS, Andersson ME, ..., Nilsson S, Sigström R

Sci Rep 12 (1) 19818 [2022-11-17; online 2022-11-17]

Dominantly inherited myosin IIa myopathy caused by aberrant splicing of MYH2.

Hedberg-Oldfors C, Elíasdóttir Ó, Geijer M, Lindberg C, Oldfors A

BMC Neurol 22 (1) 428 [2022-11-15; online 2022-11-15]

Dietary restriction and medical therapy drive PPARα-regulated improvements in early diabetic kidney disease in male rats.

Martin WP, Nair M, Chuah YHD, ..., le Roux CW, Docherty NG

Clin Sci (Lond) 136 (21) 1485-1511 [2022-11-11; online 2022-10-20]

Clinical Genomics Gothenburg [Collaborative] Swedish NMR Centre (SNC) [Collaborative]

The ESSENCE-Questionnaire in Medical Records Screening for Neurodevelopmental Symptoms/Problems: Utility and Clinical Validity.

Landgren V, Raanan Soltis Z, Svensson E, ..., Landgren M, Knez R

Neuropsychiatr Dis Treat 18 (-) 2559-2574 [2022-11-03; online 2022-11-03]

Novel TPR::ROS1 Fusion Gene Activates MAPK, PI3K and JAK/STAT Signaling in an Infant-type Pediatric Glioma.

Deland L, Keane S, Bontell TO, ..., Sabel M, Abel F

Cancer Genomics Proteomics 19 (6) 711-726 [2022-11-01; online 2022-11-01]

Assessment of the genetic and clinical determinants of hip fracture risk: Genome-wide association and Mendelian randomization study.

Nethander M, Coward E, Reimann E, ..., Hveem K, Ohlsson C

Cell Reports Medicine 3 (10) 100776 [2022-10-18; online 2022-10-20]

Implementing precision medicine in a regionally organized healthcare system in Sweden

Fioretos T, Wirta V, Cavelier L, ..., Edsjö A, Rosenquist R

Nat Med 28 (10) 1980-1982 [2022-10-00; online 2022-09-19]

Clinical Genomics Gothenburg [Collaborative] Clinical Genomics Linköping [Service] Clinical Genomics Umeå [Service] Clinical Genomics Uppsala [Collaborative]

Multifocal Neuroblastoma and Central Hypoventilation in An Infant with Germline ALK F1174I Mutation.

Djos A, Treis D, Fransson S, ..., Kogner P, Martinsson T

Diagnostics 12 (9) - [2022-09-19; online 2022-09-19]

Bioinformatics Compute and Storage [Service] Clinical Genomics Gothenburg [Service]

Treatment of periprosthetic joint infections guided by minimum biofilm eradication concentration (MBEC) in addition to minimum inhibitory concentration (MIC): protocol for a prospective randomised clinical trial.

Tillander JAN, Rilby K, Svensson Malchau K, ..., Rolfson O, Trobos M

BMJ Open 12 (9) e058168 [2022-09-15; online 2022-09-15]

An induced pluripotent stem cell t(7;12)(q36;p13) acute myeloid leukemia model shows high expression of MNX1 and a block in differentiation of the erythroid and megakaryocytic lineages.

Nilsson T, Waraky A, Östlund A, ..., Abrahamsson J, Palmqvist L

Int. J. Cancer 151 (5) 770-782 [2022-09-01; online 2022-06-03]

Bioinformatics Compute and Storage [Service] Clinical Genomics Gothenburg [Technology development]

Microbial and human transcriptome in vaginal fluid at midgestation: Association with spontaneous preterm delivery.

Wikström T, Abrahamsson S, Bengtsson-Palme J, ..., Valentin L, Hagberg H

Clin Transl Med 12 (9) e1023 [2022-09-00; online 2022-09-15]

Amplification of CDK4 and MDM2: a detailed study of a high-risk neuroblastoma subgroup.

Martinez-Monleon A, Kryh Öberg H, Gaarder J, ..., Fransson S, Martinsson T

Sci Rep 12 (1) 12420 [2022-07-20; online 2022-07-20]

Cross-sectional associations between the gut microbe Ruminococcus gnavus and features of the metabolic syndrome.

Grahnemo L, Nethander M, Coward E, ..., Hveem K, Ohlsson C

Lancet Diabetes Endocrinol 10 (7) 481-483 [2022-07-00; online 2022-06-01]

Immunological differences between heart- and kidney-transplanted children: a cross-sectional study.

Ekman-Joelsson BM, Brandström P, Allén M, ..., Mellgren K, Ekwall O

Cardiol Young - (-) 1-6 [2022-06-24; online 2022-06-24]

C1QTNF3 is Upregulated During Subcutaneous Adipose Tissue Remodeling and Stimulates Macrophage Chemotaxis and M1-Like Polarization.

Micallef P, Vujičić M, Wu Y, ..., Cardell SL, Wernstedt Asterholm I

Front Immunol 13 (-) 914956 [2022-06-02; online 2022-06-02]

Identification of Antibiotic Resistance Proteins via MiCId's Augmented Workflow. A Mass Spectrometry-Based Proteomics Approach.

Alves G, Ogurtsov A, Karlsson R, ..., Moore ERB, Yu YK

J. Am. Soc. Mass Spectrom. 33 (6) 917-931 [2022-06-01; online 2022-05-02]

Clinical Genomics Gothenburg [Collaborative] Glycoproteomics [Service]

Childhood overweight and risk of obesity-related adult cancer in men.

Célind J, Bygdell M, Martikainen J, Ohlsson C, Kindblom JM

Cancer Commun (Lond) 42 (6) 576-579 [2022-06-00; online 2022-04-08]

Birth weight and young adult body mass index for predicting the risk of developing adult heart failure in men.

Bygdell M, Ohlsson C, Lilja L, ..., Rosengren A, Kindblom JM

Eur J Prev Cardiol 29 (6) 971-978 [2022-05-06; online 2021-12-16]

Stratification of COVID-19 patients based on quantitative immune-related gene expression in whole blood

Persson J, Andersson B, van Veen S, ..., Andersson LM, Harandi AM

Mol. Immunol. 145 (-) 17-26 [2022-05-00; online 2022-05-00]

Polymorphisms in alpha 7 nicotinic acetylcholine receptor gene, CHRNA7, and its partially duplicated gene, CHRFAM7A, associate with increased inflammatory response in human peripheral mononuclear cells.

Pattanaik B, Hammarlund M, Mjörnstedt F, ..., Bergström G, Johansson ME

FASEB J. 36 (5) e22271 [2022-05-00; online 2022-03-29]

ADP-ribosylating adjuvant reveals plasticity in cDC1 cells that drive mucosal Th17 cell development and protection against influenza virus infection.

Arabpour M, Lebrero-Fernandez C, Schön K, ..., Agace W, Lycke N

Mucosal Immunol 15 (4) 745-761 [2022-04-00; online 2022-04-13]

A Study Protocol for Validation and Implementation of Whole-Genome and -Transcriptome Sequencing as a Comprehensive Precision Diagnostic Test in Acute Leukemias.

Berglund E, Barbany G, Orsmark-Pietras C, ..., Fioretos T, Rosenquist R

Front Med (Lausanne) 9 (-) 842507 [2022-03-24; online 2022-03-24]

Clinical Genomics Gothenburg [Collaborative] Clinical Genomics Umeå [Service] Clinical Genomics Uppsala [Collaborative]

Deficits in attention, motor control and perception childhood to age 30 years: prospective case-control study of outcome predictors.

Landgren V, Fernell E, Gillberg C, Landgren M, Johnson M

BMJ Open 12 (3) e054424 [2022-03-17; online 2022-03-17]

Optimization of cerebrospinal fluid microbial DNA metagenomic sequencing diagnostics.

Olausson J, Brunet S, Vracar D, ..., Jakobsson HE, Tang K

Sci Rep 12 (1) 3378 [2022-03-01; online 2022-03-01]

Bioinformatics Compute and Storage [Service] Clinical Genomics Gothenburg [Collaborative]

TC-hunter: identification of the insertion site of a transgenic gene within the host genome.

Börjesson V, Martinez-Monleon A, Fransson S, ..., Milosevic J, López MD

BMC Genomics 23 (1) 149 [2022-02-20; online 2022-02-20]

Clinical Genomics Gothenburg [Technology development]

Scavenger receptor CD36 governs recruitment of myeloid cells to the blood-CSF barrier after stroke in neonatal mice.

Rayasam A, Mottahedin A, Faustino J, Mallard C, Vexler ZS

J Neuroinflammation 19 (1) 47 [2022-02-11; online 2022-02-11]

PΨFinder: a practical tool for the identification and visualization of novel pseudogenes in DNA sequencing data.

Abrahamsson S, Eiengård F, Rohlin A, Dávila López M

BMC Bioinformatics 23 (1) 59 [2022-02-03; online 2022-02-03]

Clinical Genomics Gothenburg [Technology development]

Proteomic characterisation of polyglucosan bodies in skeletal muscle in RBCK1 deficiency.

Thomsen C, Malfatti E, Jovanovic A, ..., Lindberg C, Oldfors A

Neuropathol Appl Neurobiol 48 (1) e12761 [2022-02-00; online 2021-09-12]

Clinical Genomics Gothenburg [Service] Glycoproteomics [Service] Integrated Microscopy Technologies Gothenburg [Service]

Genetically proxied therapeutic inhibition of antihypertensive drug targets and risk of common cancers: A mendelian randomization analysis.

Yarmolinsky J, Díez-Obrero V, Richardson TG, ..., Martin RM, Moreno V

PLoS Med. 19 (2) e1003897 [2022-02-00; online 2022-02-03]

Medications Activating Tubular Fatty Acid Oxidation Enhance the Protective Effects of Roux-en-Y Gastric Bypass Surgery in a Rat Model of Early Diabetic Kidney Disease.

Martin WP, Chuah YHD, Abdelaal M, ..., le Roux CW, Docherty NG

Front Endocrinol (Lausanne) 12 (-) 757228 [2022-01-26; online 2022-01-26]

Clinical Genomics Gothenburg [Collaborative] Swedish NMR Centre (SNC) [Service]

Sustained Response to Entrectinib in an Infant With a Germline ALKAL2 Variant and Refractory Metastatic Neuroblastoma With Chromosomal 2p Gain and Anaplastic Lymphoma Kinase and Tropomyosin Receptor Kinase Activation.

Treis D, Umapathy G, Fransson S, ..., Martinsson T, Kogner P

JCO Precision Oncology 6 (6) e2100271 [2022-01-00; online 2022-01-28]

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

A genome-wide scan to locate regions associated with familial vesicoureteral reflux.

Bartik Z, Sillén U, Östensson M, ..., Sjöberg R, Martinsson T

Exp Ther Med 23 (1) 92 [2022-01-00; online 2021-11-28]

Year 2021

Single-cell atlas reveals meningeal leukocyte heterogeneity in the developing mouse brain.

Zelco A, Börjesson V, de Kanter JK, ..., Holstege FCP, Wang X

Genes Dev. 35 (15-16) 1190-1207 [2021-08-01; online 2021-07-22]

Comparison of RNA- and DNA-based methods for measurable residual disease analysis in NPM1-mutated acute myeloid leukemia.

Pettersson L, Johansson Alm S, Almstedt A, ..., Fogelstrand L, Ehinger M

Int J Lab Hematol 43 (4) 664-674 [2021-08-00; online 2021-05-30]

Mass Spectrometry Proteotyping-Based Detection and Identification of Staphylococcus aureus, Escherichia coli, and Candida albicans in Blood.

Kondori N, Kurtovic A, Piñeiro-Iglesias B, ..., Moore ERB, Karlsson R

Front. Cell. Infect. Microbiol. 11 (-) 634215 [2021-07-26; online 2021-07-26]

Clinical Genomics Gothenburg [Collaborative] Glycoproteomics [Service]

Comparative Genomics of Clinical Isolates of the Emerging Tick-Borne Pathogen Neoehrlichia mikurensis.

Grankvist A, Jaén-Luchoro D, Wass L, Sikora P, Wennerås C

Microorganisms 9 (7) - [2021-07-13; online 2021-07-13]

ALK ligand ALKAL2 potentiates MYCN-driven neuroblastoma in the absence of ALK mutation.

Borenäs M, Umapathy G, Lai WY, ..., Hallberg B, Palmer RH

EMBO J. 40 (3) e105784 [2021-02-01; online 2021-01-07]

Clinical Genomics Gothenburg [Collaborative] Glycoproteomics [Service]

Year 2020

Whole-genome sequencing of recurrent neuroblastoma reveals somatic mutations that affect key players in cancer progression and telomere maintenance.

Fransson S, Martinez-Monleon A, Johansson M, ..., Kogner P, Martinsson T

Sci Rep 10 (1) 22432 [2020-12-31; online 2020-12-31]

Variations among Viruses in Influent Water and Effluent Water at a Wastewater Plant over One Year as Assessed by Quantitative PCR and Metagenomics.

Wang H, Neyvaldt J, Enache L, ..., Bergstedt O, Norder H

Appl. Environ. Microbiol. 86 (24) - [2020-11-24; online 2020-11-24]

DNA-Based Methods for Measurable Residual Disease Detection in NPM1-Mutated Acute Myeloid Leukemia; Establishment of Cut-Offs for qPCR, Digital Droplet PCR and Targeted Deep Sequencing

DOI Crossref

Pettersson L, Johansson Alm S, Almstedt A, ..., Fogelstrand L, Ehinger M

Blood 136 (Supplement 1) 6-6 [2020-11-05; online 2020-11-05]

MYO5B mutations in pheochromocytoma/paraganglioma promote cancer progression.

Tomić TT, Olausson J, Rehammar A, ..., Wassén ON, Abel F

PLoS Genet. 16 (6) e1008803 [2020-06-00; online 2020-06-08]

Hepatitis E virus genotype 3 strains and a plethora of other viruses detected in raw and still in tap water.

Wang H, Kjellberg I, Sikora P, ..., Bergstedt O, Norder H

Water Res. 168 (-) 115141 [2020-01-01; online 2019-09-30]

Year 2019

β-Mannosidosis caused by a novel homozygous intragenic inverted duplication in MANBA.

Blomqvist M, Smeland MF, Lindgren J, ..., Riise Stensland HMF, Asin-Cayuela J

Cold Spring Harb Mol Case Stud 5 (3) a003954 [2019-06-00; online 2019-06-03]

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

Year 2018

Hepatitis E Virus Genotype 3 Genomes from RNA-Positive but Serologically Negative Plasma Donors Have CUG as the Start Codon for ORF3.

Norder H, Galli C, Magnil E, ..., Nyström K, Magnius LO

Intervirology 61 (2) 96-103 [2018-10-02; online 2018-10-02]

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 Gothenburg [Collaborative] Clinical Genomics Stockholm [Service]

Differential removal of human pathogenic viruses from sewage by conventional and ozone treatments.

Wang H, Sikora P, Rutgersson C, ..., Larsson DGJ, Norder H

International Journal of Hygiene and Environmental Health 221 (3) 479-488 [2018-04-00; online 2018-02-01]

Bioinformatics Compute and Storage [Service] Clinical Genomics Gothenburg [Collaborative]

Year 2017

Genomic Variation in IbA10G2 and Other Patient-Derived Cryptosporidium hominis Subtypes.

Sikora P, Andersson S, Winiecka-Krusnell J, ..., Beser J, Arrighi RB

J. Clin. Microbiol. 55 (3) 844-858 [2017-03-00; online 2016-12-21]

Year 2016

Limited clonal relatedness between gut IgA plasma cells and memory B cells after oral immunization.

Bemark M, Hazanov H, Strömberg A, ..., Mehr R, Lycke NY

Nat Commun 7 (-) 12698 [2016-09-06; online 2016-09-06]

Draft Genome Sequence of Moraxella catarrhalis Type Strain CCUG 353T.

Jakobsson HE, Salvà-Serra F, Thorell K, ..., Kristiansson E, Moore ERB

Genome Announc 4 (3) e00552-16 [2016-06-16; online 2016-06-16]

Clinical Genomics Gothenburg [Collaborative] Clinical Genomics Stockholm [Collaborative] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]