Publications

Services offered by the CG platform have resulted in more that 500 scientific publications since the platform was established. In the last two years, we have contributed to 306 scientific publications. Among these, 28 articles were published in scientific journals with an impact factor >9.

WGS in Rare Disease

Implementation of WGS for rare inherited disease in healthcare that resulted in ~40% of patients receiving a clear diagnosis and to the discovery of more than 30 new disease-causing genes (Stranneheim et al, Genome Med 2023: PMED 33726816)

Ultra-sensitive Detection

Development and validation of a new method for ultra-sensitive detection of disease-driving mutations in hematologic malignancies (Chen et al., Nat Commun 2022; PMID: 35821208)

WGS in Cancer

Clinical study investigating the diagnostic yield of WGS and WTS as standard for all children diagnosed with cancer in Sweden, including establishment of multi-disciplinary molecular tumor boards (Wadensten et al., JCO Precis Oncol 2023; PMID: 37384868)

Single Cell & RNA-seq

Methods development and support with multimodal single cell sequencing demonstrating that tumor immunogenicity can be restored with dendritic cell
reprogramming (Zimmermannova et al., Sci Immunol 2023; PMID: 37418548)

Here the list of our scientific contributions:

2023 (114)
  1. Adolfsson, E., et al., Whole exome sequencing of FFPE samples-expanding the horizon of forensic molecular autopsies. Int J Legal Med, 2023. 137(4): p. 1215-1234.
  2. Ahlberg, E., et al., Immune-related microRNAs in breast milk and their relation to regulatory T cells in breastfed children. Pediatr Allergy Immunol, 2023. 34(4): p. e13952.
  3. Almobarak, B., et al., Exposure to nonanoic acid alters small intestinal neuroendocrine tumor phenotype. BMC Cancer, 2023. 23(1): p. 267.
  4. Álvarez-Rodríguez, M., et al., Mating modifies the expression of crucial oxidative-reductive transcripts in the pig oviductal sperm reservoir: is the female ensuring sperm survival? Front Endocrinol (Lausanne), 2023. 14: p. 1042176.
  5. Andersson, B., et al., Development of a machine learning framework for radiation biomarker discovery and absorbed dose prediction. Front Oncol, 2023. 13: p. 1156009.
  6. Andersson, N., et al., Inactivation of RB1, CDKN2A, and TP53 have distinct effects on genomic stability at side-by-side comparison in karyotypically normal cells. Genes Chromosomes Cancer, 2023. 62(2): p. 93-100.
  7. Aranburu, A., et al., Clonal relationships of memory B cell subsets in autoimmune mice. Front Immunol, 2023. 14: p. 1129234.
  8. Ballante, F., et al., Modified N-acyl-L-homoserine lactone compounds abrogate Las-dependent quorum-sensing response in human pathogen Pseudomonas aeruginosa. Front Mol Biosci, 2023. 10: p. 1264773.
  9. Batkovskyte, D., et al., Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders. J Bone Miner Res, 2023. 38(5): p. 692-706.
  10. Bilgrav Saether, K., et al., Transposable element insertions in 1000 Swedish individuals. PLoS One, 2023. 18(7): p. e0289346.
  11. Bodén, S., et al., Plasma Concentrations of Gut Hormones Acyl Ghrelin and Peptide YY and Subsequent Risk of Colorectal Cancer and Molecular Tumor Subtypes. Cancer Prev Res (Phila), 2023. 16(2): p. 75-87.
  12. Bonfiglio, S., et al., BTK and PLCG2 remain unmutated in one-third of patients with CLL relapsing on ibrutinib. Blood Adv, 2023. 7(12): p. 2794-2806.
  13. Borgström, E.W., et al., Three Adult Cases of STAT1 Gain-of-Function with Chronic Mucocutaneous Candidiasis Treated with JAK Inhibitors. J Clin Immunol, 2023. 43(1): p. 136-150.
  14. Braian, C., et al., Selected β-Glucans Act as Immune-Training Agents by Improving Anti-Mycobacterial Activity in Human Macrophages: A Pilot Study. J Innate Immun, 2023. 15(1): p. 751-764.
  15. Bygdell, M., et al., Incidence and Characteristics in Children with Post-COVID-19 Condition in Sweden. JAMA Netw Open, 2023. 6(7): p. e2324246.
  16. Bygdell, M., et al., 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. Int J Infect Dis, 2023. 126: p. 104-113.
  17. Carlund, O., et al., DNA methylation variations and epigenetic aging in telomere biology disorders. Sci Rep, 2023. 13(1): p. 7955.
  18. De Geer, K., et al., Unraveling mucolipidosis type III gamma through whole genome sequencing in late-onset retinitis pigmentosa: a case report. BMC Ophthalmol, 2023. 23(1): p. 394.
  19. Deshmukh, M., et al., Gene expression of S100a8/a9 predicts Staphylococcus aureus-induced septic arthritis in mice. Front Microbiol, 2023. 14: p. 1146694.
  20. Devarakonda, S., et al., Low-grade intestinal inflammation two decades after pelvic radiotherapy. EBioMedicine, 2023. 94: p. 104691.
  21. Doimo, M., et al., Enhanced mitochondrial G-quadruplex formation impedes replication fork progression leading to mtDNA loss in human cells. Nucleic Acids Res, 2023. 51(14): p. 7392-7408.
  22. Dorvall, M., et al., Mosaic Loss of Chromosome Y Is Associated With Functional Outcome After Ischemic Stroke. Stroke, 2023. 54(9): p. 2434-2437.
  23. Edsjo, A., et al., Building a precision medicine infrastructure at a national level: The Swedish experience. Camb Prism Precis Med, 2023. 1: p. e15.
  24. Ekman-Joelsson, B.M., et al., Immunological differences between heart- and kidney-transplanted children: a cross-sectional study. Cardiol Young, 2023. 33(5): p. 787-792.
  25. Erdinc, D., et al., The disease-causing mutation p.F907I reveals a novel pathogenic mechanism for POLγ-related diseases. Biochim Biophys Acta Mol Basis Dis, 2023. 1869(7): p. 166786.
  26. Eriksson, A., et al., Somatic Exonic Deletions in RUNX1 Constitutes a Novel Recurrent Genomic Abnormality in Acute Myeloid Leukemia. Clin Cancer Res, 2023. 29(15): p. 2826-2834.
  27. Eriksson, D., et al., Palmoplantar keratoderma and digital clubbing in 2 sisters with hypertrophic osteoarthropathy. JAAD Case Rep, 2023. 31: p. 133-136.
  28. Eriksson, P., et al., Urodrill – a novel MRI-guided endoscopic biopsy technique to sample and molecularly classify muscle-invasive bladder cancer without fractionating the specimen during transurethral resection. Eur Urol Open Sci, 2023. 53: p. 78-82.
  29. Garcia-Pelaez, J., et al., Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes. Lancet Oncol, 2023. 24(1): p. 91-106.
  30. Garza Flores, A., et al., Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome. Front Genet, 2023. 14: p. 1174046.
  31. Garza, R., et al., LINE-1 retrotransposons drive human neuronal transcriptome complexity and functional diversification. Sci Adv, 2023. 9(44): p. eadh9543.
  32. Garza, R., et al., Single-cell transcriptomics of human traumatic brain injury reveals activation of endogenous retroviruses in oligodendroglia. Cell Rep, 2023. 42(11): p. 113395.
  33. Gianecini, R.A., et al., Sustained Transmission of Neisseria gonorrhoeae Strains with High-Level Azithromycin Resistance (MIC ≥ 256 μg/mL) in Argentina, 2018 to 2022. Microbiol Spectr, 2023. 11(4): p. e0097023.
  34. Golparian, D., et al., High-level in vitro resistance to gentamicin acquired in a stepwise manner in Neisseria gonorrhoeae. J Antimicrob Chemother, 2023. 78(7): p. 1769-1778.
  35. Golparian, D., et al., Complete Reference Genome Sequence of the Clinical Neisseria gonorrhoeae Strain H035, with Resistance to the Novel Antimicrobial Zoliflodacin, Identified in Japan in 2000. Microbiol Resour Announc, 2023. 12(3): p. e0113022.
  36. Golparian, D., et al., Multidrug-resistant Neisseria gonorrhoeae isolate SE690: mosaic penA-60.001 gene causing ceftriaxone resistance internationally has spread to the more antimicrobial-susceptible genomic lineage, Sweden, September 2022. Euro Surveill, 2023. 28(10).
  37. Grahnemo, L., et al., Low Circulating Valine Associate With High Risk of Hip Fractures. J Clin Endocrinol Metab, 2023. 108(11): p. e1384-e1393.
  38. Grahnemo, L., et al., Identification of three bacterial species associated with increased appendicular lean mass: the HUNT study. Nat Commun, 2023. 14(1): p. 2250.
  39. Gravina, G., et al., Transcriptome network analysis links perinatal Staphylococcus epidermidis infection to microglia reprogramming in the immature hippocampus. Glia, 2023. 71(9): p. 2234-2249.
  40. Guo, A., et al., Early-Life Hygiene-Related Factors and Risk of Inflammatory Bowel Disease: A Scandinavian Birth Cohort Study. Inflamm Bowel Dis, 2023.
  41. Haars, J., et al., Prevalence of SARS-CoV-2 Omicron Sublineages and Spike Protein Mutations Conferring Resistance against Monoclonal Antibodies in a Swedish Cohort during 2022-2023. Microorganisms, 2023. 11(10).
  42. Hakkarainen, M., et al., The clinical picture of ERCC6L2 disease: from bone marrow failure to acute leukemia. Blood, 2023. 141(23): p. 2853-2866.
  43. Hedberg-Oldfors, C., et al., Ribonuclease inhibitor 1 (RNH1) deficiency cause congenital cataracts and global developmental delay with infection-induced psychomotor regression and anemia. Eur J Hum Genet, 2023. 31(8): p. 887-894.
  44. Henningsson, A.J., et al., Genome-wide DNA methylation profiling in Lyme neuroborreliosis reveals altered methylation patterns of HLA genes. J Infect Dis, 2023.
  45. Henry, O.J., et al., Individualised human phenotype ontology gene panels improve clinical whole exome and genome sequencing analytical efficacy in a cohort of developmental and epileptic encephalopathies. Mol Genet Genomic Med, 2023. 11(7): p. e2167.
  46. Jacob, P., et al., Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13. NPJ Genom Med, 2023. 8(1): p. 39.
  47. Jonare, L., et al., Core genome multilocus sequence typing (cgMLST) confirms systemic spread of avian pathogenic Escherichia coli (APEC) in broilers with cellulitis. Vet Microbiol, 2023. 282: p. 109755.
  48. Kakooza, F., et al., Genomic surveillance and antimicrobial resistance determinants in Neisseria gonorrhoeae isolates from Uganda, Malawi and South Africa, 2015-20. J Antimicrob Chemother, 2023. 78(8): p. 1982-1991.
  49. Kha, M., et al., The injury-induced transcription factor SOX9 alters the expression of LBR, HMGA2, and HIPK3 in the human kidney. Am J Physiol Renal Physiol, 2023. 324(1): p. F75-f90.
  50. Kimland, E.E., et al., Melatonin Prescription in Children and Adolescents in Relation to Body Weight and Age. Pharmaceuticals (Basel), 2023. 16(3).
  51. Konturek-Ciesla, A., et al., Temporal multimodal single-cell profiling of native hematopoiesis illuminates altered differentiation trajectories with age. Cell Rep, 2023. 42(4): p. 112304.
  52. Koskela von Sydow, A., et al., Comparison of SARS-CoV-2 whole genome sequencing using tiled amplicon enrichment and bait hybridization. Sci Rep, 2023. 13(1): p. 6461.
  53. Lawenius, L., et al., Transplantation of gut microbiota from old mice into young healthy mice reduces lean mass but not bone mass. Gut Microbes, 2023. 15(1): p. 2236755.
  54. Lerchova, T., et al., Physical activity in childhood and later risk of inflammatory bowel disease: A Scandinavian birth cohort study. United European Gastroenterol J, 2023. 11(9): p. 874-883.
  55. Li, H., et al., Identification of phenotypically, functionally, and anatomically distinct stromal niche populations in human bone marrow based on single-cell RNA sequencing. Elife, 2023. 12.
  56. Lidström, T., et al., Extracellular Galectin 4 Drives Immune Evasion and Promotes T-cell Apoptosis in Pancreatic Cancer. Cancer Immunol Res, 2023. 11(1): p. 72-92.
  57. Liedberg, F., et al., UROSCAN and UROSCANSEQ: a large-scale multicenter effort towards translation of molecular bladder cancer subtypes into clinical practice – from biobank to RNA-sequencing in real time. Scand J Urol, 2023. 57(1-6): p. 2-9.
  58. Lilja, L., et al., Overweight in childhood and young adulthood increases the risk for adult thromboembolic events. J Intern Med, 2023. 293(5): p. 615-623.
  59. Lindgren, U., et al., Inclusion body myositis with early onset: a population-based study. J Neurol, 2023. 270(11): p. 5483-5492.
  60. Lundberg-Morris, L., et al., Covid-19 vaccine effectiveness against post-covid-19 condition among 589 722 individuals in Sweden: population based cohort study. Bmj, 2023. 383: p. e076990.
  61. Maliński, B., et al., Novel pathological variants of NHP2 affect N-terminal domain flexibility, protein stability, H/ACA Ribonucleoprotein (RNP) complex formation and telomerase activity. Hum Mol Genet, 2023. 32(19): p. 2901-2912.
  62. Martinez, C.A., et al., Epigenetic modifications appear in the human placenta following anxiety and depression during pregnancy. Placenta, 2023. 140: p. 72-79.
  63. Mattison, K.A., et al., ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy. Brain, 2023. 146(4): p. 1357-1372.
  64. Maya-González, C., et al., Register-based and genetic studies of Prader-Willi syndrome show a high frequency of gonadal tumors and a possible mechanism for tumorigenesis through imprinting relaxation. Front Med (Lausanne), 2023. 10: p. 1172565.
  65. Medina-Gomez, C., et al., Bone mineral density loci specific to the skull portray potential pleiotropic effects on craniosynostosis. Commun Biol, 2023. 6(1): p. 691.
  66. Movérare-Skrtic, S., et al., B4GALNT3 regulates glycosylation of sclerostin and bone mass. EBioMedicine, 2023. 91: p. 104546.
  67. Nethander, M., et al., An atlas of genetic determinants of forearm fracture. Nat Genet, 2023. 55(11): p. 1820-1830.
  68. Nilsson, G., et al., Two different isoforms of osteopontin modulate myelination and axonal integrity. FASEB Bioadv, 2023. 5(8): p. 336-353.
  69. Ohlsson, C., et al., Serum DHEA and Testosterone Levels Associate Inversely With Coronary Artery Calcification in Elderly Men. J Clin Endocrinol Metab, 2023. 108(12): p. 3272-3279.
  70. Olof, S., et al., Prevalence and persistence of Neisseria meningitidis carriage in Swedish university students. Epidemiol Infect, 2023. 151: p. e25.
  71. Örkenby, L., et al., Stress-sensitive dynamics of miRNAs and Elba1 in Drosophila embryogenesis. Mol Syst Biol, 2023. 19(5): p. e11148.
  72. Östensson, M., et al., Epidemiology, validation, and clinical characteristics of inflammatory bowel disease: the ABIS birth cohort study. BMC Gastroenterol, 2023. 23(1): p. 199.
  73. Pekkola Pacheco, N., et al., Expanding the phenotype of Seckel syndrome associated with biallelic loss-of-function variants in CEP63. Am J Med Genet A, 2023. 191(7): p. 1929-1934.
  74. Persson Waller, K., et al., Intramammary infections and risk factors in freshly calved heifers in Swedish dairy herds. J Dairy Sci, 2023. 106(11): p. 7893-7907.
  75. Persson Waller, K., et al., Genotypic characterization of Staphylococcus chromogenes and Staphylococcus simulans from Swedish cases of bovine subclinical mastitis. J Dairy Sci, 2023. 106(11): p. 7991-8004.
  76. Petruk, G., et al., Targeting Toll-like receptor-driven systemic inflammation by engineering an innate structural fold into drugs. Nat Commun, 2023. 14(1): p. 6097.
  77. Podraza-Farhanieh, A., et al., A proinsulin-dependent interaction between ENPL-1 and ASNA-1 in neurons is required to maintain insulin secretion in C. elegans. Development, 2023. 150(6).
  78. Polland, L., et al., In vivo gene expression profile of Haemophilus influenzae during human pneumonia. Microbiol Spectr, 2023. 11(5): p. e0163923.
  79. Raj, D., et al., Cisplatin toxicity is counteracted by the activation of the p38/ATF-7 signaling pathway in post-mitotic C. elegans. Nat Commun, 2023. 14(1): p. 2886.
  80. Rastegar, B., et al., Resolving the Pathogenesis of Anaplastic Wilms Tumors through Spatial Mapping of Cancer Cell Evolution. Clin Cancer Res, 2023. 29(14): p. 2668-2677.
  81. Rezayee, F., et al., Feasibility to use whole-genome sequencing as a sole diagnostic method to detect genomic aberrations in pediatric B-cell acute lymphoblastic leukemia. Front Oncol, 2023. 13: p. 1217712.
  82. Sandstedt, J., et al., Metagenomic sequencing of human cardiac tissue reveals Microbial RNA which correlates with Toll-like receptor-associated inflammation in patients with heart disease. Sci Rep, 2023. 13(1): p. 7884.
  83. Saudi, A., et al., Immune-Activated B Cells Are Dominant in Prostate Cancer. Cancers (Basel), 2023. 15(3).
  84. Shah, K., et al., Venetoclax-Resistant T-ALL Cells Display Distinct Cancer Stem Cell Signatures and Enrichment of Cytokine Signaling. Int J Mol Sci, 2023. 24(5).
  85. Shahin, H., et al., miRNome and Proteome Profiling of Human Keratinocytes and Adipose Derived Stem Cells Proposed miRNA-Mediated Regulations of Epidermal Growth Factor and Interleukin 1-Alpha. Int J Mol Sci, 2023. 24(5).
  86. Shaw, D., et al., Trends in invasive bacterial diseases during the first 2 years of the COVID-19 pandemic: analyses of prospective surveillance data from 30 countries and territories in the IRIS Consortium. Lancet Digit Health, 2023. 5(9): p. e582-e593.
  87. Shemirani, M.I., et al., Benchmarking of two bioinformatic workflows for the analysis of whole-genome sequenced Staphylococcus aureus collected from patients with suspected sepsis. BMC Infect Dis, 2023. 23(1): p. 39.
  88. Sheward, D.J., et al., Sensitivity of the SARS-CoV-2 BA.2.86 variant to prevailing neutralising antibody responses. Lancet Infect Dis, 2023. 23(11): p. e462-e463.
  89. Sigvardsson, I., et al., Childhood Socioeconomic Characteristics and Risk of Inflammatory Bowel Disease: A Scandinavian Birth Cohort Study. Inflamm Bowel Dis, 2023.
  90. Silvério-Alves, R., et al., GATA2 mitotic bookmarking is required for definitive haematopoiesis. Nat Commun, 2023. 14(1): p. 4645.
  91. Smedby, K.E., et al., The BioLymph study – implementing precision medicine approaches in lymphoma diagnostics, treatment and follow-up: feasibility and first results. Acta Oncol, 2023. 62(6): p. 560-564.
  92. Söderlund, R., et al., Shiga toxin-producing Escherichia coli (STEC) and atypical enteropathogenic E. coli (aEPEC) in Swedish retail wheat flour. Access Microbiol, 2023. 5(5).
  93. Sommarin, M.N.E., et al., Single-cell multiomics of human fetal hematopoiesis define a developmental-specific population and a fetal signature. Blood Adv, 2023. 7(18): p. 5325-5340.
  94. Tabebi, M., et al., Domain landscapes of somatic NF1 mutations in pheochromocytoma and paraganglioma. Gene, 2023. 872: p. 147432.
  95. Tabebi, M., P. Söderkvist, and O. Gimm, Nuclear and mitochondrial DNA alterations in pheochromocytomas and paragangliomas, and their potential treatment. Endocr Relat Cancer, 2023. 30(1).
  96. Tast Lahti, E., et al., One Health surveillance-A cross-sectoral detection, characterization, and notification of foodborne pathogens. Front Public Health, 2023. 11: p. 1129083.
  97. Tesi, B., et al., Precision medicine in rare diseases: What is next? J Intern Med, 2023. 294(4): p. 397-412.
  98. Thomsen, L.C.V., et al., A phase I prospective, non-randomized trial of autologous dendritic cell-based cryoimmunotherapy in patients with metastatic castration-resistant prostate cancer. Cancer Immunol Immunother, 2023. 72(7): p. 2357-2373.
  99. Tislevoll, B.S., et al., Early response evaluation by single cell signaling profiling in acute myeloid leukemia. Nat Commun, 2023. 14(1): p. 115.
  100. Torinsson Naluai, Å., et al., Transcriptomics unravels molecular changes associated with cilia and COVID-19 in chronic rhinosinusitis with nasal polyps. Sci Rep, 2023. 13(1): p. 6592.
  101. van de Vegte, Y.J., et al., Genetic insights into resting heart rate and its role in cardiovascular disease. Nat Commun, 2023. 14(1): p. 4646.
  102. Vasileiadis, G.K., et al., Adipokines and risk of rheumatoid arthritis: A two-sample multivariable Mendelian randomisation study. PLoS One, 2023. 18(6): p. e0286981.
  103. Verma, D., et al., Differential DNA Methylation of MicroRNA-Encoding Genes in Psoriatic Epidermis Highlights the Wnt Pathway. J Invest Dermatol, 2023. 143(8): p. 1594-1597.e14.
  104. Vianello, E., et al., Global blood miRNA profiling unravels early signatures of immunogenicity of Ebola vaccine rVSVDeltaG-ZEBOV-GP. iScience, 2023. 26(12): p. 108574.
  105. Volpe, M. and J. Das, methylR: a graphical interface for comprehensive DNA methylation array data analysis. Bioinformatics, 2023. 39(4).
  106. von Palffy, S., et al., The complement receptor C3AR constitutes a novel therapeutic target in NPM1-mutated AML. Blood Adv, 2023. 7(7): p. 1204-1218.
  107. Vono, M., et al., C-type lectin receptor agonists elicit functional IL21-expressing Tfh cells and induce primary B cell responses in neonates. Front Immunol, 2023. 14: p. 1155200.
  108. Wadensten, E., et al., Diagnostic Yield From a Nationwide Implementation of Precision Medicine for all Children With Cancer. JCO Precis Oncol, 2023. 7: p. e2300039.
  109. Wallander, K., et al., Sensitive Detection of Cell-Free Tumour DNA Using Optimised Targeted Sequencing Can Predict Prognosis in Gastro-Oesophageal Cancer. Cancers (Basel), 2023. 15(4).
  110. Widström, J., et al., Complex norovirus transmission dynamics at hospital wards revealed by deep sequencing. J Clin Microbiol, 2023. 61(11): p. e0060823.
  111. Woodward, E.L., et al., Clonal origin and development of high hyperdiploidy in childhood acute lymphoblastic leukaemia. Nat Commun, 2023. 14(1): p. 1658.
  112. Young, C., et al., A hypomorphic variant in the translocase of the outer mitochondrial membrane complex subunit TOMM7 causes short stature and developmental delay. HGG Adv, 2023. 4(1): p. 100148.
  113. Zheng, J., et al., 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. Arthritis Rheumatol, 2023. 75(10): p. 1781-1792.
  114. Zimmermannova, O., et al., Restoring tumor immunogenicity with dendritic cell reprogramming. Sci Immunol, 2023. 8(85): p. eadd4817.
2022 (105)
  1. Abrahamsson, S., et al., PΨFinder: a practical tool for the identification and visualization of novel pseudogenes in DNA sequencing data. BMC Bioinformatics, 2022. 23(1): p. 59.
  2. Alves, G., et al., Identification of Antibiotic Resistance Proteins via MiCId’s Augmented Workflow. A Mass Spectrometry-Based Proteomics Approach. J Am Soc Mass Spectrom, 2022. 33(6): p. 917-931.
  3. Arabpour, M., et al., ADP-ribosylating adjuvant reveals plasticity in cDC1 cells that drive mucosal Th17 cell development and protection against influenza virus infection. Mucosal Immunol, 2022. 15(4): p. 745-761.
  4. Arthur, C., et al., Patient-Specific Assays Based on Whole-Genome Sequencing Data to Measure Residual Disease in Children With Acute Lymphoblastic Leukemia: A Proof of Concept Study. Front Oncol, 2022. 12: p. 899325.
  5. Bartik, Z., et al., A genome-wide scan to locate regions associated with familial vesicoureteral reflux. Exp Ther Med, 2022. 23(1): p. 92.
  6. Berglund, E., et al., A Study Protocol for Validation and Implementation of Whole-Genome and -Transcriptome Sequencing as a Comprehensive Precision Diagnostic Test in Acute Leukemias. Front Med (Lausanne), 2022. 9: p. 842507.
  7. Bergman, P., et al., Mutation in the TACI gene and autoimmune neutropenia: A case report. Am J Hematol, 2022. 97(6): p. E207-e210.
  8. Bernard, E., et al., Molecular International Prognostic Scoring System for Myelodysplastic Syndromes. NEJM Evid, 2022. 1(7): p. EVIDoa2200008.
  9. Börjesson, V., et al., TC-hunter: identification of the insertion site of a transgenic gene within the host genome. BMC Genomics, 2022. 23(1): p. 149.
  10. Bygdell, M., et al., Birth weight and young adult body mass index for predicting the risk of developing adult heart failure in men. Eur J Prev Cardiol, 2022. 29(6): p. 971-978.
  11. Campbell, T.M., et al., Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency. J Exp Med, 2022. 219(7).
  12. Célind, J., et al., Childhood overweight and risk of obesity-related adult cancer in men. Cancer Commun (Lond), 2022. 42(6): p. 576-579.
  13. Chen, L., et al., Ultra-sensitive monitoring of leukemia patients using superRCA mutation detection assays. Nat Commun, 2022. 13(1): p. 4033.
  14. Chibani, Z., et al., Autosomal recessive congenital hereditary corneal dystrophy associated with a novel SLC4A11 mutation in two consanguineous Tunisian families. Br J Ophthalmol, 2022. 106(2): p. 281-287.
  15. Deland, L., et al., Novel TPR::ROS1 Fusion Gene Activates MAPK, PI3K and JAK/STAT Signaling in an Infant-type Pediatric Glioma. Cancer Genomics Proteomics, 2022. 19(6): p. 711-726.
  16. Devi, P., et al., Next-Generation Sequencing Analysis of CpG Methylation of a Tumor Suppressor Gene SHP-1 Promoter in Stable Cell Lines and HCV-Positive Patients. Viruses, 2022. 14(11).
  17. Dhapola, P., et al., Scarf enables a highly memory-efficient analysis of large-scale single-cell genomics data. Nat Commun, 2022. 13(1): p. 4616.
  18. Djos, A., et al., Multifocal Neuroblastoma and Central Hypoventilation in An Infant with Germline ALK F1174I Mutation. Diagnostics (Basel), 2022. 12(9).
  19. Dutta, N., et al., 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. Front Oncol, 2022. 12: p. 1073457.
  20. Eriksson, P., et al., A comparison of rule-based and centroid single-sample multiclass predictors for transcriptomic classification. Bioinformatics, 2022. 38(4): p. 1022-1029.
  21. Fioretos, T., et al., Implementing precision medicine in a regionally organized healthcare system in Sweden. Nat Med, 2022. 28(10): p. 1980-1982.
  22. Framme, J.L., et al., Long-Term Follow-Up of Newborns with 22q11 Deletion Syndrome and Low TRECs. J Clin Immunol, 2022. 42(3): p. 618-633.
  23. Golparian, D., et al., GyrB in silico mining in 27 151 global gonococcal genomes from 1928-2021 combined with zoliflodacin in vitro testing of 71 international gonococcal isolates with different GyrB, ParC and ParE substitutions confirms high susceptibility. J Antimicrob Chemother, 2022. 78(1): p. 150-154.
  24. Golparian, D., et al., Genomic surveillance and antimicrobial resistance in Neisseria gonorrhoeae isolates in Bangkok, Thailand in 2018. J Antimicrob Chemother, 2022. 77(8): p. 2171-2182.
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