Clinical Genomics Gothenburg

Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.

Delgado-Vega AM, Cederroth H, Taylan F, ..., Cederroth M, Nordgren A

Nat. Genet. 56 (11) 2287-2294 [2024-11-00; online 2024-10-22]

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

An ancient ecospecies of Helicobacter pylori.

Tourrette E, Torres RC, Svensson SL, ..., Thorell K, Falush D

Nature 635 (8037) 178-185 [2024-11-00; online 2024-10-16]

Bioinformatics Support for Computational Resources [Service] Clinical Genomics Gothenburg [Collaborative]

Comparative Analysis of Plasma Protein Dynamics in Women with ST-Elevation Myocardial Infarction and Takotsubo Syndrome.

Hussain S, Jha S, Berger E, ..., Omerovic E, Redfors B

Cells 13 (21) 1764 [2024-10-24; online 2024-10-24]

Clinical Genomics Gothenburg [Service] Glycoproteomics and MS Proteomics [Collaborative]

Building pangenome graphs.

Garrison E, Guarracino A, Heumos S, ..., Williams RW, Prins P

Nat. Methods - (-) - [2024-10-21; online 2024-10-21]

Defective ribosome assembly impairs leukemia progression in a murine model of acute myeloid leukemia.

Sjövall D, Ghosh S, Fernandez-Fuentes N, ..., Guibentif C, Jaako P

Cell Rep 43 (11) 114864 [2024-10-15; online 2024-10-15]

Early-Life Hygiene-Related Factors and Risk of Inflammatory Bowel Disease: A Scandinavian Birth Cohort Study.

Guo A, Östensson M, Størdal K, Ludvigsson J, Mårild K

Inflamm Bowel Dis 30 (10) 1820-1830 [2024-10-03; online 2023-11-03]

Childhood Socioeconomic Characteristics and Risk of Inflammatory Bowel Disease: A Scandinavian Birth Cohort Study.

Sigvardsson I, Størdal K, Östensson M, ..., Ludvigsson J, Mårild K

Inflamm Bowel Dis 30 (10) 1801-1811 [2024-10-03; online 2023-09-23]

Enrichment Reveals Extensive Integration of Hepatitis B Virus DNA in Hepatitis Delta Virus-Infected Patients.

Ringlander J, Strömberg LG, Stenbäck JB, ..., Rydell GE, Lindh M

J. Infect. Dis. 230 (3) e684-e693 [2024-09-23; online 2024-01-25]

Early-Life Diet Diversity and the Subsequent Risk of Inflammatory Bowel Disease: Findings From Two Scandinavian Birth Cohorts.

Guo A, Ludvigsson J, Hård Af Segerstad EM, ..., Størdal K, Mårild K

Inflamm Bowel Dis - (-) - [2024-09-13; online 2024-09-13]

BaTwa populations from Zambia retain ancestry of past hunter-gatherer groups.

Breton G, Barham L, Mudenda G, ..., Schlebusch CM, Jakobsson M

Nat Commun 15 (1) 7307 [2024-08-24; online 2024-08-24]

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

Surface-Shaving of Staphylococcus aureus Strains and Quantitative Proteomic Analysis Reveal Differences in Protein Abundance of the Surfaceome.

Karlsson A, Alarcón LA, Piñeiro-Iglesias B, ..., Jin T, Karlsson R

Microorganisms 12 (8) - [2024-08-21; online 2024-08-21]

Clinical Genomics Gothenburg [Service] Glycoproteomics and MS Proteomics [Service]

Proteomic profiling of polyglucosan bodies associated with glycogenin-1 deficiency in skeletal muscle.

Visuttijai K, Hedberg-Oldfors C, Costello DJ, Bermingham N, Oldfors A

Neuropathol Appl Neurobiol 50 (3) e12995 [2024-06-00; online 2024-06-26]

Clinical Genomics Gothenburg [Service] Glycoproteomics and MS Proteomics [Service] Integrated Microscopy Technologies Gothenburg [Service]

Fine-Tuning Amyloid Precursor Protein Expression through Nonsense-Mediated mRNA Decay.

Rahmati M, Chebli J, Kumar Banote R, ..., Zetterberg H, Abramsson A

eNeuro 11 (6) - [2024-06-00; online 2024-06-10]

Tobacco Smoke Exposure in Early Childhood and Later Risk of Inflammatory Bowel Disease: A Scandinavian Birth Cohort Study.

Sigvardsson I, Ludvigsson J, Andersson B, Størdal K, Mårild K

J Crohns Colitis 18 (5) 661-670 [2024-05-31; online 2024-02-08]

Prediction models of persistent taxane-induced peripheral neuropathy among breast cancer survivors using whole-exome sequencing.

Engvall K, Uvdal H, Björn N, Åvall-Lundqvist E, Gréen H

NPJ Precis Oncol 8 (1) 102 [2024-05-16; online 2024-05-16]

Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Service] Clinical Genomics Gothenburg [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

Genomic alterations in ovarian endometriosis and subsequently diagnosed ovarian carcinoma.

Linder A, Westbom-Fremer S, Mateoiu C, ..., Hedenfalk I, Sundfeldt K

Hum. Reprod. 39 (5) 1141-1154 [2024-05-02; online 2024-03-09]

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

Experimental Evaluation of a Direct Fitness Effect of the De Novo Evolved Mouse Gene Pldi.

Linnenbrink M, Breton G, Misra P, ..., Dutheil JY, Tautz D

Genome Biol Evol 16 (5) - [2024-05-02; online 2024-05-14]

Low birthweight and overweight during childhood and young adulthood and the risk of type 2 diabetes in men: a population-based cohort study.

Célind J, Bygdell M, Bramsved R, ..., Ohlsson C, Kindblom JM

Diabetologia 67 (5) 874-884 [2024-05-00; online 2024-02-22]

Deciphering the role of FUS::DDIT3 expression and tumor microenvironment in myxoid liposarcoma development.

Ranji P, Jonasson E, Andersson L, ..., Åman P, Ståhlberg A

J Transl Med 22 (1) 389 [2024-04-26; online 2024-04-26]

Clinical Genomics Gothenburg [Service] Glycoproteomics and MS Proteomics [Service]

Early-life diet and risk of inflammatory bowel disease: a pooled study in two Scandinavian birth cohorts.

Guo A, Ludvigsson J, Brantsæter AL, ..., Størdal K, Mårild K

Gut 73 (4) 590-600 [2024-03-07; online 2024-03-07]

Diversity in genetic risk of recurrent stroke: a genome-wide association study meta-analysis

Aldridge CM, Armstrong ND, Sunmonu NA, ..., Irvin MR, Worrall BB

Front. Stroke 3 (-) - [2024-02-21; online 2024-02-21]

MiCId GUI: The Graphical User Interface for MiCId, a Fast Microorganism Classification and Identification Workflow with Accurate Statistics and High Recall.

Ogurtsov A, Alves G, Rubio A, ..., Moore ERB, Yu YK

J Comput Biol 31 (2) 175-178 [2024-02-00; online 2024-02-02]

Clinical Genomics Gothenburg [Collaborative] Glycoproteomics and MS Proteomics [Service]

Birth Weight, Childhood and Young Adult Overweight, and the Risk of Coronary Heart Disease in Men.

Bramsved R, Bygdell M, Martikainen J, ..., Ohlsson C, Kindblom JM

Arterioscler. Thromb. Vasc. Biol. 44 (1) 314-321 [2024-01-00; online 2023-11-16]

Landscape of Epstein-Barr virus gene expression and perturbations in cancer

K. W. Tang YTGXABIHDVea

Res Sq - (-) - [2024-00-00]

Year 2023

Covid-19 vaccine effectiveness against post-covid-19 condition among 589 722 individuals in Sweden: population based cohort study.

Lundberg-Morris L, Leach S, Xu Y, ..., Nyberg F, Bygdell M

BMJ 383 (-) e076990 [2023-11-22; online 2023-11-22]

Complex norovirus transmission dynamics at hospital wards revealed by deep sequencing.

Widström J, Andersson ME, Westin J, ..., Lindh M, Rydell GE

J. Clin. Microbiol. 61 (11) e0060823 [2023-11-21; online 2023-10-27]

Serum DHEA and Testosterone Levels Associate Inversely With Coronary Artery Calcification in Elderly Men.

Ohlsson C, Nethander M, Norlén A, ..., Gudnason V, Tivesten Å

J. Clin. Endocrinol. Metab. 108 (12) 3272-3279 [2023-11-17; online 2023-07-01]

Physical activity in childhood and later risk of inflammatory bowel disease: A Scandinavian birth cohort study.

Lerchova T, Östensson M, Sigvardsson I, ..., Mårild K, Ludvigsson J

United European Gastroenterol J 11 (9) 874-883 [2023-11-00; online 2023-10-04]

Inclusion body myositis with early onset: a population-based study.

Lindgren U, Hedberg-Oldfors C, Pullerits R, Lindberg C, Oldfors A

J. Neurol. 270 (11) 5483-5492 [2023-11-00; online 2023-07-27]

Global blood miRNA profiling unravels early signatures of immunogenicity of Ebola vaccine rVSVΔG-ZEBOV-GP

Vianello E, Persson J, Andersson B, ..., Ottenhoff THM, Harandi AM

iScience - (-) 108574 [2023-11-00; online 2023-11-00]

An atlas of genetic determinants of forearm fracture.

Nethander M, Movérare-Skrtic S, Kämpe A, ..., Richards JB, Ohlsson C

Nat. Genet. 55 (11) 1820-1830 [2023-11-00; online 2023-11-02]

Low Circulating Valine Associate With High Risk of Hip Fractures.

Grahnemo L, Eriksson AL, Nethander M, ..., Pettersson-Kymmer U, Ohlsson C

J. Clin. Endocrinol. Metab. 108 (11) e1384-e1393 [2023-10-18; online 2023-05-14]

Lowering of Circulating Sclerostin May Increase Risk of Atherosclerosis and Its Risk Factors: Evidence From a Genome-Wide Association Meta-Analysis Followed by Mendelian Randomization.

Zheng J, Wheeler E, Pietzner M, ..., Davey Smith G, Tobias JH

Arthritis & rheumatology (Hoboken, N.J.) 75 (10) 1781-1792 [2023-10-00; online 2023-08-03]

Transcriptome network analysis links perinatal Staphylococcus epidermidis infection to microglia reprogramming in the immature hippocampus.

Gravina G, Ardalan M, Chumak T, ..., Ek CJ, Mallard C

Glia 71 (9) 2234-2249 [2023-09-00; online 2023-05-29]

Mosaic Loss of Chromosome Y Is Associated With Functional Outcome After Ischemic Stroke.

Dorvall M, Pedersen A, Dumanski JP, ..., Stanne TM, Jern C

Stroke 54 (9) 2434-2437 [2023-09-00; online 2023-07-19]

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

Feasibility to use whole-genome sequencing as a sole diagnostic method to detect genomic aberrations in pediatric B-cell acute lymphoblastic leukemia.

Rezayee F, Eisfeldt J, Skaftason A, ..., Rosenquist R, Barbany G

Front Oncol 13 (-) 1217712 [2023-08-14; online 2023-08-14]

Clinical Genomics Gothenburg [Collaborative] Clinical Genomics Stockholm [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

Enhanced mitochondrial G-quadruplex formation impedes replication fork progression leading to mtDNA loss in human cells.

Doimo M, Chaudhari N, Abrahamsson S, ..., Chorell E, Wanrooij S

Nucleic Acids Res. 51 (14) 7392-7408 [2023-08-11; online 2023-06-23]

Genetic insights into resting heart rate and its role in cardiovascular disease.

van de Vegte YJ, Eppinga RN, van der Ende MY, ..., Verweij N, van der Harst P

Nat Commun 14 (1) 4646 [2023-08-02; online 2023-08-02]

Clinical Genomics Gothenburg [Collaborative] NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

Two different isoforms of osteopontin modulate myelination and axonal integrity.

Nilsson G, Mottahedin A, Zelco A, ..., Leavenworth JW, Wang X

FASEB Bioadv 5 (8) 336-353 [2023-08-00; online 2023-06-17]

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

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]

Low-grade intestinal inflammation two decades after pelvic radiotherapy.

Devarakonda S, Thorsell A, Hedenström P, ..., Steineck G, Bull C

EBioMedicine 94 (-) 104691 [2023-08-00; online 2023-07-20]

Clinical Genomics Gothenburg [Service] Glycoproteomics and MS Proteomics [Collaborative]

Transplantation of gut microbiota from old mice into young healthy mice reduces lean mass but not bone mass.

Lawenius L, Cowardin C, Grahnemo L, ..., Sjögren K, Ohlsson C

Gut Microbes 15 (1) 2236755 [2023-07-21; online 2023-07-21]

Bone mineral density loci specific to the skull portray potential pleiotropic effects on craniosynostosis.

Medina-Gomez C, Mullin BH, Chesi A, ..., Kague E, Rivadeneira F

Commun Biol 6 (1) 691 [2023-07-04; online 2023-07-04]

Incidence and Characteristics in Children with Post-COVID-19 Condition in Sweden.

Bygdell M, Kindblom JM, Martikainen J, Li H, Nyberg F

JAMA Netw Open 6 (7) e2324246 [2023-07-03; online 2023-07-03]

Gene expression of S100a8/a9 predicts Staphylococcus aureus-induced septic arthritis in mice.

Deshmukh M, Subhash S, Hu Z, ..., Jin T, Kopparapu PK

Front Microbiol 14 (-) 1146694 [2023-06-15; online 2023-06-15]

Bioinformatics Support for Computational Resources [Service] Clinical Genomics Gothenburg [Service]

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]

Cisplatin toxicity is counteracted by the activation of the p38/ATF-7 signaling pathway in post-mitotic C. elegans.

Raj D, Kraish B, Martikainen J, ..., Kao G, Naredi P

Nat Commun 14 (1) 2886 [2023-05-20; online 2023-05-20]

Clinical Genomics Gothenburg [Collaborative] Glycoproteomics and MS Proteomics [Service] Integrated Microscopy Technologies Gothenburg [Service]

Metagenomic sequencing of human cardiac tissue reveals Microbial RNA which correlates with Toll-like receptor-associated inflammation in patients with heart disease.

Sandstedt J, Vukusic K, Dellgren G, ..., Mattsson Hultén L, Rotter Sopasakis V

Sci Rep 13 (1) 7884 [2023-05-15; online 2023-05-15]

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 P, Siegrist C

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

Exposure to nonanoic acid alters small intestinal neuroendocrine tumor phenotype.

Almobarak B, Amlani V, Inge L, ..., Arvidsson Y, Elias E

BMC Cancer 23 (1) 267 [2023-03-23; online 2023-03-23]

A proinsulin-dependent interaction between ENPL-1 and ASNA-1 in neurons is required to maintain insulin secretion in C. elegans.

Podraza-Farhanieh A, Raj D, Kao G, Naredi P

Development 150 (6) - [2023-03-15; online 2023-03-20]

Clinical Genomics Gothenburg [Service] Glycoproteomics and MS Proteomics [Service] Integrated Microscopy Technologies Gothenburg [Service]

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]

Clonal relationships of memory B cell subsets in autoimmune mice.

Aranburu A, Engström E, Gerasimcik N, ..., Grimsholm O, Mårtensson IL

Front Immunol 14 (-) 1129234 [2023-03-01; online 2023-03-01]

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]

Bioinformatics Support for Computational Resources [Service] Clinical Genomics Gothenburg [Service] Glycoproteomics and MS Proteomics [Service]

Combinatory analysis of immune cell subsets and tumor-specific genetic variants predict clinical response to PD-1 blockade in patients with non-small cell lung cancer.

Dutta N, Rohlin A, Eklund EA, ..., Hallqvist A, Raghavan S

Front Oncol 12 (-) 1073457 [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]

A comprehensive characterization of patients diagnosed with post-COVID-19 condition in Sweden 16 months after the introduction of the International Classification of Diseases Tenth Revision diagnosis code (U09.9): a population-based cohort study.

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

Int J Infect Dis 126 (-) 104-113 [2023-01-00; online 2022-11-21]

Building a precision medicine infrastructure at a national level: The Swedish experience

Edsjö A, Lindstrand A, Gisselsson D, ..., Fioretos T, Rosenquist R

Camb. prisms Precis. med. 1 (-) - [2023-00-00; online 2023-02-27]

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]

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 2022-09-20]

Clinical Genomics Gothenburg [Collaborative] Clinical Genomics Linköping [Service] Clinical Genomics Stockholm [Collaborative] 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 Support for Computational Resources [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 Support for Computational Resources [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 and MS Proteomics [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 Stockholm [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 Support for Computational Resources [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 and MS Proteomics [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 and MS Proteomics [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 and MS Proteomics [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

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 Support for Computational Resources [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]