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.
  25. Golparian, D., et al., Complete Reference Genome Sequence of the Extensively Drug-Resistant Strain Neisseria gonorrhoeae AT159, with Ceftriaxone Resistance and High-Level Azithromycin Resistance, Using Nanopore Q20+ Chemistry and Illumina Sequencing. Microbiol Resour Announc, 2022. 11(9): p. e0074422.
  26. Grahn, A., et al., Genomic profile – a possible diagnostic and prognostic marker in upper tract urothelial carcinoma. BJU Int, 2022. 130(1): p. 92-101.
  27. Grahnemo, L., et al., Cross-sectional associations between the gut microbe Ruminococcus gnavus and features of the metabolic syndrome. Lancet Diabetes Endocrinol, 2022. 10(7): p. 481-483.
  28. Grigoryan, A., et al., Engineering human mini-bones for the standardized modeling of healthy hematopoiesis, leukemia, and solid tumor metastasis. Sci Transl Med, 2022. 14(666): p. eabm6391.
  29. Hedberg-Oldfors, C., et al., Dominantly inherited myosin IIa myopathy caused by aberrant splicing of MYH2. BMC Neurol, 2022. 22(1): p. 428.
  30. Hodcroft, E.B., et al., Evolution, geographic spreading, and demographic distribution of Enterovirus D68. PLoS Pathog, 2022. 18(5): p. e1010515.
  31. Jacobsson, S., et al., Pharmacodynamic Evaluation of Zoliflodacin Treatment of Neisseria gonorrhoeae Strains With Amino Acid Substitutions in the Zoliflodacin Target GyrB Using a Dynamic Hollow Fiber Infection Model. Front Pharmacol, 2022. 13: p. 874176.
  32. Jädersten, M., et al., Limited benefit in patients with MDS receiving venetoclax and azacitidine as a bridge to allogeneic stem cell transplantation. Leuk Lymphoma, 2022. 63(3): p. 755-758.
  33. Jimenez, D.G., et al., Single-cell analysis of myeloid cells in HPV(+) tonsillar cancer. Front Immunol, 2022. 13: p. 1087843.
  34. Johansson, J., et al., Loss of Nexilin function leads to a recessive lethal fetal cardiomyopathy characterized by cardiomegaly and endocardial fibroelastosis. Am J Med Genet A, 2022. 188(6): p. 1676-1687.
  35. Johansson, P.A., et al., A cis-acting structural variation at the ZNF558 locus controls a gene regulatory network in human brain development. Cell Stem Cell, 2022. 29(1): p. 52-69.e8.
  36. Karlsson, L., et al., Fusion transcript analysis reveals slower response kinetics than multiparameter flow cytometry in childhood acute myeloid leukaemia. Int J Lab Hematol, 2022. 44(6): p. 1094-1101.
  37. Kristiansen, T.A., et al., Developmental cues license megakaryocyte priming in murine hematopoietic stem cells. Blood Adv, 2022. 6(24): p. 6228-6241.
  38. Krstic, A., et al., Case Report: Whole genome sequencing identifies CCDC88C as a novel JAK2 fusion partner in pediatric T-cell acute lymphoblastic leukemia. Front Pediatr, 2022. 10: p. 1082986.
  39. Lagos, A.C., et al., Evaluation of within-host evolution of methicillin-resistant Staphylococcus aureus (MRSA) by comparing cgMLST and SNP analysis approaches. Sci Rep, 2022. 12(1): p. 10541.
  40. Landgren, V., et al., Deficits in attention, motor control and perception childhood to age 30 years: prospective case-control study of outcome predictors. BMJ Open, 2022. 12(3): p. e054424.
  41. Landgren, V., et al., The ESSENCE-Questionnaire in Medical Records Screening for Neurodevelopmental Symptoms/Problems: Utility and Clinical Validity. Neuropsychiatr Dis Treat, 2022. 18: p. 2559-2574.
  42. Larsson, S.B., et al., Self-reported symptom severity, general health, and impairment in post-acute phases of COVID-19: retrospective cohort study of Swedish public employees. Sci Rep, 2022. 12(1): p. 19818.
  43. Li, J., et al., Glioblastoma CD105(+) cells define a SOX2(-) cancer stem cell-like subpopulation in the pre-invasive niche. Acta Neuropathol Commun, 2022. 10(1): p. 126.
  44. Lilljebjörn, H., et al., Transcriptomics paving the way for improved diagnostics and precision medicine of acute leukemia. Semin Cancer Biol, 2022. 84: p. 40-49.
  45. Lindelöf, H., et al., Case Report: Inversion of LMX1B – A Novel Cause of Nail-Patella Syndrome in a Swedish Family and a Longtime Follow-Up. Front Endocrinol (Lausanne), 2022. 13: p. 862908.
  46. Lindstrand, A., et al., Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability. Genet Med, 2022. 24(11): p. 2296-2307.
  47. Ljungström, V., et al., Loss of Y and clonal hematopoiesis in blood-two sides of the same coin? Leukemia, 2022. 36(3): p. 889-891.
  48. Löwenmark, T., et al., Parvimonas micra is associated with tumour immune profiles in molecular subtypes of colorectal cancer. Cancer Immunol Immunother, 2022. 71(10): p. 2565-2575.
  49. Lundgren, E., et al., Combining biomarker and virus phylogenetic models improves HIV-1 epidemiological source identification. PLoS Comput Biol, 2022. 18(8): p. e1009741.
  50. Łysiak, M., et al., Methylation associated with long- or short-term survival in glioblastoma patients from the Nordic phase 3 trial. Front Genet, 2022. 13: p. 934519.
  51. Magnusson, C., et al., Characterization of a Clostridioides difficile outbreak caused by PCR ribotype 046, associated with increased mortality. Emerg Microbes Infect, 2022. 11(1): p. 850-859.
  52. Mañas, A., et al., Clinically relevant treatment of PDX models reveals patterns of neuroblastoma chemoresistance. Sci Adv, 2022. 8(43): p. eabq4617.
  53. Mannsverk, S., et al., SARS-CoV-2 variants of concern and spike protein mutational dynamics in a Swedish cohort during 2021, studied by Nanopore sequencing. Virol J, 2022. 19(1): p. 164.
  54. Martin, W.P., et al., Dietary restriction and medical therapy drives PPARα-regulated improvements in early diabetic kidney disease in male rats. Clin Sci (Lond), 2022. 136(21): p. 1485-1511.
  55. Martinell, M., et al., In-Flight Transmission of a SARS-CoV-2 Lineage B.1.617.2 Harbouring the Rare S:E484Q Immune Escape Mutation. Viruses, 2022. 14(3).
  56. Martinez-Monleon, A., et al., Amplification of CDK4 and MDM2: a detailed study of a high-risk neuroblastoma subgroup. Sci Rep, 2022. 12(1): p. 12420.
  57. Matuozzo, D., et al., Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19. medRxiv, 2022.
  58. Micallef, P., et al., C1QTNF3 is Upregulated During Subcutaneous Adipose Tissue Remodeling and Stimulates Macrophage Chemotaxis and M1-Like Polarization. Front Immunol, 2022. 13: p. 914956.
  59. Mitra, S., et al., Amplification of ERBB2 (HER2) in embryonal rhabdomyosarcoma: A potential treatment target in rare cases? Genes Chromosomes Cancer, 2022. 61(1): p. 5-9.
  60. Muleviciene, A., et al., Childhood Kaposi sarcoma related to hypomorphic severe combined immunodeficiency caused by a novel CORO1A mutation. Pediatr Blood Cancer, 2022. 69(5): p. e29487.
  61. Nethander, M., et al., Assessment of the genetic and clinical determinants of hip fracture risk: Genome-wide association and Mendelian randomization study. Cell Rep Med, 2022. 3(10): p. 100776.
  62. Nilsson, T., et al., 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. Int J Cancer, 2022. 151(5): p. 770-782.
  63. Öberg, J., et al., Bacteraemia and infective endocarditis with Streptococcus bovis-Streptococcus equinus-complex: a retrospective cohort study. Infect Dis (Lond), 2022. 54(10): p. 760-765.
  64. Oburoglu, L., et al., Pyruvate metabolism guides definitive lineage specification during hematopoietic emergence. EMBO Rep, 2022. 23(2): p. e54384.
  65. Olausson, J., et al., Optimization of cerebrospinal fluid microbial DNA metagenomic sequencing diagnostics. Sci Rep, 2022. 12(1): p. 3378.
  66. Pandzic, T., et al., Five Percent Variant Allele Frequency Is a Reliable Reporting Threshold for TP53 Variants Detected by Next Generation Sequencing in Chronic Lymphocytic Leukemia in the Clinical Setting. Hemasphere, 2022. 6(8): p. e761.
  67. Pattanaik, B., et al., 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. Faseb j, 2022. 36(5): p. e22271.
  68. Paulsen, K., et al., LymphoTrack Is Equally Sensitive as PCR GeneScan and Sanger Sequencing for Detection of Clonal Rearrangements in ALL Patients. Diagnostics (Basel), 2022. 12(6).
  69. Persani, L., et al., The genetic diagnosis of rare endocrine disorders of sex development and maturation: a survey among Endo-ERN centres. Endocr Connect, 2022. 11(12).
  70. Persson, J., et al., Stratification of COVID-19 patients based on quantitative immune-related gene expression in whole blood. Mol Immunol, 2022. 145: p. 17-26.
  71. Pilheden, M., et al., Duplex Sequencing Uncovers Recurrent Low-frequency Cancer-associated Mutations in Infant and Childhood KMT2A-rearranged Acute Leukemia. Hemasphere, 2022. 6(10): p. e785.
  72. Pircs, K., et al., Distinct subcellular autophagy impairments in induced neurons from patients with Huntington’s disease. Brain, 2022. 145(9): p. 3035-3057.
  73. Pizzolato, G., et al., The oncogenic transcription factor FOXQ1 is a differential regulator of Wnt target genes. J Cell Sci, 2022. 135(19).
  74. Pleininger, S., et al., Extensively drug-resistant (XDR) Neisseria gonorrhoeae causing possible gonorrhoea treatment failure with ceftriaxone plus azithromycin in Austria, April 2022. Euro Surveill, 2022. 27(24).
  75. Pontén, E., et al., A complex DICER1 syndrome phenotype associated with a germline pathogenic variant affecting the RNase IIIa domain of DICER1. J Med Genet, 2022. 59(2): p. 141-146.
  76. Rasi, C., et al., PatientMatcher: A customizable Python-based open-source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network. Hum Mutat, 2022. 43(6): p. 708-716.
  77. Rayasam, A., et al., Scavenger receptor CD36 governs recruitment of myeloid cells to the blood-CSF barrier after stroke in neonatal mice. J Neuroinflammation, 2022. 19(1): p. 47.
  78. Rosa, F.F., et al., Single-cell transcriptional profiling informs efficient reprogramming of human somatic cells to cross-presenting dendritic cells. Sci Immunol, 2022. 7(69): p. eabg5539.
  79. Rosenhahn, E., et al., Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications. Am J Hum Genet, 2022. 109(8): p. 1421-1435.
  80. Safi, F., et al., Concurrent stem- and lineage-affiliated chromatin programs precede hematopoietic lineage restriction. Cell Rep, 2022. 39(6): p. 110798.
  81. Salvà-Serra, F., et al., Responses of carbapenemase-producing and non-producing carbapenem-resistant Pseudomonas aeruginosa strains to meropenem revealed by quantitative tandem mass spectrometry proteomics. Front Microbiol, 2022. 13: p. 1089140.
  82. Sanna, A., et al., DNA promoter hypermethylation of melanocyte lineage genes determines melanoma phenotype. JCI Insight, 2022. 7(19).
  83. Sheward, D.J., et al., Omicron sublineage BA.2.75.2 exhibits extensive escape from neutralising antibodies. Lancet Infect Dis, 2022. 22(11): p. 1538-1540.
  84. Sjödahl, G., et al., Different Responses to Neoadjuvant Chemotherapy in Urothelial Carcinoma Molecular Subtypes. Eur Urol, 2022. 81(5): p. 523-532.
  85. Skaftason, A., et al., Transcriptome sequencing of archived lymphoma specimens is feasible and clinically relevant using exome capture technology. Genes Chromosomes Cancer, 2022. 61(1): p. 27-36.
  86. Stenzinger, A., et al., Trailblazing precision medicine in Europe: A joint view by Genomic Medicine Sweden and the Centers for Personalized Medicine, ZPM, in Germany. Semin Cancer Biol, 2022. 84: p. 242-254.
  87. Stratmann, S., et al., Transcriptomic analysis reveals proinflammatory signatures associated with acute myeloid leukemia progression. Blood Adv, 2022. 6(1): p. 152-164.
  88. Tabebi, M., et al., Loss of SDHB Induces a Metabolic Switch in the hPheo1 Cell Line toward Enhanced OXPHOS. Int J Mol Sci, 2022. 23(1).
  89. Tabebi, M., et al., Genetic Alterations in Mitochondrial DNA Are Complementary to Nuclear DNA Mutations in Pheochromocytomas. Cancers (Basel), 2022. 14(2).
  90. Tausch, E., et al., Secondary resistance to idelalisib is characterized by upregulation of IGF1R rather than by MAPK/ERK pathway mutations. Blood, 2022. 139(22): p. 3340-3344.
  91. Thomsen, C., et al., Proteomic characterisation of polyglucosan bodies in skeletal muscle in RBCK1 deficiency. Neuropathol Appl Neurobiol, 2022. 48(1): p. e12761.
  92. Thysell, E., et al., Clinical and biological relevance of the transcriptomic-based prostate cancer metastasis subtypes MetA-C. Mol Oncol, 2022. 16(4): p. 846-859.
  93. Tilevik, D., et al., Sequence-based genotyping of extra-intestinal pathogenic Escherichia coli isolates from patients with suspected community-onset sepsis, Sweden. Microb Pathog, 2022. 173(Pt A): p. 105836.
  94. Tillander, J.A.N., et al., 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. BMJ Open, 2022. 12(9): p. e058168.
  95. Treis, D., et al., 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. JCO Precis Oncol, 2022. 6: p. e2100271.
  96. Vallera, R.D., et al., Case report: Two sisters with a germline CHEK2 variant and distinct endocrine neoplasias. Front Endocrinol (Lausanne), 2022. 13: p. 1024108.
  97. Viberg, A., et al., TCF4 trinucleotide repeat expansion in Swedish cases with Fuchs’ endothelial corneal dystrophy. Acta Ophthalmol, 2022. 100(5): p. 541-548.
  98. Voso, M.T., et al., Clonal haematopoiesis as a risk factor for therapy-related myeloid neoplasms in patients with chronic lymphocytic leukaemia treated with chemo-(immuno)therapy. Br J Haematol, 2022. 198(1): p. 103-113.
  99. Wikström, T., et al., Microbial and human transcriptome in vaginal fluid at midgestation: Association with spontaneous preterm delivery. Clin Transl Med, 2022. 12(9): p. e1023.
  100. Winbo, A., et al., To Modify or Not to Modify: Allele-Specific Effects of 3’UTR-KCNQ1 Single Nucleotide Polymorphisms on Clinical Phenotype in a Long QT 1 Founder Population Segregating a Dominant-Negative Mutation. J Am Heart Assoc, 2022. 11(18): p. e025981.
  101. Xue, J.Y., et al., SLC4A2 Deficiency Causes a New Type of Osteopetrosis. J Bone Miner Res, 2022. 37(2): p. 226-235.
  102. Yarmolinsky, J., et al., Genetically proxied therapeutic inhibition of antihypertensive drug targets and risk of common cancers: A mendelian randomization analysis. PLoS Med, 2022. 19(2): p. e1003897.
  103. Zambanini, G., et al., A new CUT&RUN low volume-urea (LoV-U) protocol optimized for transcriptional co-factors uncovers Wnt/β-catenin tissue-specific genomic targets. Development, 2022. 149(23).
  104. Zhang, Q., et al., Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia. J Exp Med, 2022. 219(8).
  105. Zhao, S., et al., Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders. NPJ Genom Med, 2022. 7(1): p. 11.
2021 (78)
  1. Abdulla, M., et al., PD-L1 and IDO1 are potential targets for treatment in patients with primary diffuse large B-cell lymphoma of the CNS. Acta Oncol, 2021. 60(4): p. 531-538.
  2. Adolfsson, E., et al., Technical in-depth comparison of two massive parallel DNA-sequencing methods for formalin-fixed paraffin-embedded tissue from victims of sudden cardiac death. Forensic Sci Int Genet, 2021. 53: p. 102522.
  3. Asano, T., et al., X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19. Sci Immunol, 2021. 6(62).
  4. Beale, M.A., et al., Global phylogeny of Treponema pallidum lineages reveals recent expansion and spread of contemporary syphilis. Nat Microbiol, 2021. 6(12): p. 1549-1560.
  5. Borenäs, M., et al., ALK ligand ALKAL2 potentiates MYCN-driven neuroblastoma in the absence of ALK mutation. Embo j, 2021. 40(3): p. e105784.
  6. Botto, L.D., et al., Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non-oncologic disorders. Am J Med Genet A, 2021. 185(2): p. 517-527.
  7. Bruhn, H., et al., Novel Mutation m.10372A>G in MT-ND3 Causing Sensorimotor Axonal Polyneuropathy. Neurol Genet, 2021. 7(2): p. e566.
  8. Correia, S.P., et al., Severe congenital lactic acidosis and hypertrophic cardiomyopathy caused by an intronic variant in NDUFB7. Hum Mutat, 2021. 42(4): p. 378-384.
  9. Daoud, F., et al., Inducible Deletion of YAP and TAZ in Adult Mouse Smooth Muscle Causes Rapid and Lethal Colonic Pseudo-Obstruction. Cell Mol Gastroenterol Hepatol, 2021. 11(2): p. 623-637.
  10. de Boer, E., et al., A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis. Eur J Hum Genet, 2021. 29(9): p. 1359-1368.
  11. Dutta, R.K., et al., X-chromosome variants are associated with aldosterone producing adenomas. Sci Rep, 2021. 11(1): p. 10562.
  12. Elfving, H., et al., Evaluation of NTRK immunohistochemistry as a screening method for NTRK gene fusion detection in non-small cell lung cancer. Lung Cancer, 2021. 151: p. 53-59.
  13. Engström, K., et al., Early Pregnancy Exposure to Ambient Air Pollution among Late-Onset Preeclamptic Cases Is Associated with Placental DNA Hypomethylation of Specific Genes and Slower Placental Maturation. Toxics, 2021. 9(12).
  14. Engvall, M., et al., Case Report: A Novel Mutation in the Mitochondrial MT-ND5 Gene Is Associated With Leber Hereditary Optic Neuropathy (LHON). Front Neurol, 2021. 12: p. 652590.
  15. Gianecini, R.A., et al., Genomic Epidemiology of Azithromycin-Nonsusceptible Neisseria gonorrhoeae, Argentina, 2005-2019. Emerg Infect Dis, 2021. 27(9): p. 2369-2378.
  16. Gillentine, M.A., et al., Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders. Genome Med, 2021. 13(1): p. 63.
  17. Gimm, O., et al., Increased diagnostic sensitivity of palpation-guided thyroid nodule fine-needle aspiration cytology by BRAF V600E-mutation analysis. J Pathol Clin Res, 2021. 7(6): p. 556-564.
  18. Golparian, D., et al., Neisseria gonorrhoeae Sequence Typing for Antimicrobial Resistance (NG-STAR) clonal complexes are consistent with genomic phylogeny and provide simple nomenclature, rapid visualization and antimicrobial resistance (AMR) lineage predictions. J Antimicrob Chemother, 2021. 76(4): p. 940-944.
  19. Gong, B., et al., Cross-oncopanel study reveals high sensitivity and accuracy with overall analytical performance depending on genomic regions. Genome Biol, 2021. 22(1): p. 109.
  20. Grankvist, A., et al., Comparative Genomics of Clinical Isolates of the Emerging Tick-Borne Pathogen Neoehrlichia mikurensis. Microorganisms, 2021. 9(7).
  21. Hadad, R., et al., First National Genomic Epidemiological Study of Neisseria gonorrhoeae Strains Spreading Across Sweden in 2016. Front Microbiol, 2021. 12: p. 820998.
  22. Hammarsjö, A., et al., High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses. J Hum Genet, 2021. 66(10): p. 995-1008.
  23. Hellström Lindberg, E., et al., [Precision diagnostics and therapy in hematological malignancies]. Lakartidningen, 2021. 118.
  24. Hussein, D., et al., Novel Mutation of the TGF-β 3 Protein (Loeys-Dietz Type 5) Associated With Aortic and Carotid Dissections: Case Report. Neurol Genet, 2021. 7(6): p. e625.
  25. Ilinca, A., et al., MAP3K6 Mutations in a Neurovascular Disease Causing Stroke, Cognitive Impairment, and Tremor. Neurol Genet, 2021. 7(1): p. e548.
  26. Jacobsson, S., et al., Pharmacodynamic Evaluation of Dosing, Bacterial Kill, and Resistance Suppression for Zoliflodacin Against Neisseria gonorrhoeae in a Dynamic Hollow Fiber Infection Model. Front Pharmacol, 2021. 12: p. 682135.
  27. Jönsson, M.E., et al., Activation of endogenous retroviruses during brain development causes an inflammatory response. Embo j, 2021. 40(9): p. e106423.
  28. Juneblad, K., et al., Association between inflammasome-related polymorphisms and psoriatic arthritis. Scand J Rheumatol, 2021. 50(3): p. 206-212.
  29. Kadefors, M., et al., CD105(+)CD90(+)CD13(+) identifies a clonogenic subset of adventitial lung fibroblasts. Sci Rep, 2021. 11(1): p. 24417.
  30. Kaminska, K., et al., Distinct mechanisms of resistance to fulvestrant treatment dictate level of ER independence and selective response to CDK inhibitors in metastatic breast cancer. Breast Cancer Res, 2021. 23(1): p. 26.
  31. Khademi, S.M.H., et al., Genomic and Phenotypic Evolution of Achromobacter xylosoxidans during Chronic Airway Infections of Patients with Cystic Fibrosis. mSystems, 2021. 6(3): p. e0052321.
  32. Kondori, N., et al., Mass Spectrometry Proteotyping-Based Detection and Identification of Staphylococcus aureus, Escherichia coli, and Candida albicans in Blood. Front Cell Infect Microbiol, 2021. 11: p. 634215.
  33. Ku, A., et al., High-Throughput and Automated Acoustic Trapping of Extracellular Vesicles to Identify microRNAs With Diagnostic Potential for Prostate Cancer. Front Oncol, 2021. 11: p. 631021.
  34. Kugelberg, U., et al., 5´XP sRNA-seq: efficient identification of transcripts with and without 5´ phosphorylation reveals evolutionary conserved small RNA. RNA Biol, 2021. 18(11): p. 1588-1599.
  35. Leijon, M., et al., Longitudinal study of Staphylococcus aureus genotypes isolated from bovine clinical mastitis. J Dairy Sci, 2021. 104(11): p. 11945-11954.
  36. Li, X., et al., A modified protein marker panel to identify four consensus molecular subtypes in colorectal cancer using immunohistochemistry. Pathol Res Pract, 2021. 220: p. 153379.
  37. Łysiak, M., et al., Deletions on Chromosome Y and Downregulation of the SRY Gene in Tumor Tissue Are Associated with Worse Survival of Glioblastoma Patients. Cancers (Basel), 2021. 13(7).
  38. Malin, K., et al., Optimization of droplet digital PCR assays for the type-specific detection and quantification of five HPV genotypes, including additional data on viral loads of nine different HPV genotypes in cervical carcinomas. J Virol Methods, 2021. 294: p. 114193.
  39. Mareschal, S., et al., Challenging conventional karyotyping by next-generation karyotyping in 281 intensively treated patients with AML. Blood Adv, 2021. 5(4): p. 1003-1016.
  40. Martin, W.P., et al., 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. Front Endocrinol (Lausanne), 2021. 12: p. 757228.
  41. Marzouka, N.A. and P. Eriksson, multiclassPairs: an R package to train multiclass pair-based classifier. Bioinformatics, 2021. 37(18): p. 3043-3044.
  42. Matalonga, L., et al., Solving patients with rare diseases through programmatic reanalysis of genome-phenome data. Eur J Hum Genet, 2021. 29(9): p. 1337-1347.
  43. Naess, K., et al., Clinical Presentation, Genetic Etiology, and Coenzyme Q10 Levels in 55 Children with Combined Enzyme Deficiencies of the Mitochondrial Respiratory Chain. J Pediatr, 2021. 228: p. 240-251.e2.
  44. Ndahetuye, J.B., et al., Genetic Characterization of Staphylococcus aureus From Subclinical Mastitis Cases in Dairy Cows in Rwanda. Front Vet Sci, 2021. 8: p. 751229.
  45. Niklasson, C.U., et al., Hypoxia inducible factor-2α importance for migration, proliferation, and self-renewal of trunk neural crest cells. Dev Dyn, 2021. 250(2): p. 191-236.
  46. Paucar, M., et al., Adult-Onset Ataxia With Neuropathy and White Matter Abnormalities Due to a Novel SAMD9L Variant. Neurol Genet, 2021. 7(6): p. e628.
  47. Perme, T., et al., Lack of diagnostic-escape mutants of group B streptococcus in Slovenia. Clin Microbiol Infect, 2021. 27(7): p. 1054-1055.
  48. Pettersson, L., et al., Comparison of RNA- and DNA-based methods for measurable residual disease analysis in NPM1-mutated acute myeloid leukemia. Int J Lab Hematol, 2021. 43(4): p. 664-674.
  49. Pfisterer, U., et al., Single-cell sequencing in translational cancer research and challenges to meet clinical diagnostic needs. Genes Chromosomes Cancer, 2021. 60(7): p. 504-524.
  50. Qvick, A., et al., Liquid biopsy as an option for predictive testing and prognosis in patients with lung cancer. Mol Med, 2021. 27(1): p. 68.
  51. Radke, K., et al., Anti-tumor effects of rigosertib in high-risk neuroblastoma. Transl Oncol, 2021. 14(8): p. 101149.
  52. Rodrigues, J.M., et al., Targeted genomic investigations in a population-based cohort of mantle cell lymphoma reveal novel clinically relevant targets. Leuk Lymphoma, 2021. 62(11): p. 2637-2647.
  53. Säll, O., et al., Atypical presentation of Neisseria meningitidis serogroup W disease is associated with the introduction of the 2013 strain. Epidemiol Infect, 2021. 149: p. e126.
  54. Sánchez-Busó, L., et al., A community-driven resource for genomic epidemiology and antimicrobial resistance prediction of Neisseria gonorrhoeae at Pathogenwatch. Genome Med, 2021. 13(1): p. 61.
  55. Saxenborn, P., et al., Genotypic Characterization of Clinical Klebsiella spp. Isolates Collected From Patients With Suspected Community-Onset Sepsis, Sweden. Front Microbiol, 2021. 12: p. 640408.
  56. Smits, A., et al., Sex Disparities in MGMT Promoter Methylation and Survival in Glioblastoma: Further Evidence from Clinical Cohorts. J Clin Med, 2021. 10(4).
  57. Somasundaram, R., et al., EBF1 and PAX5 control pro-B cell expansion via opposing regulation of the Myc gene. Blood, 2021. 137(22): p. 3037-3049.
  58. Stegmayr, J., et al., Isolation of high-yield and -quality RNA from human precision-cut lung slices for RNA-sequencing and computational integration with larger patient cohorts. Am J Physiol Lung Cell Mol Physiol, 2021. 320(2): p. L232-l240.
  59. Stenmark, B., et al., Genome-wide methylome analysis of two strains belonging to the hypervirulent Neisseria meningitidis serogroup W ST-11 clonal complex. Sci Rep, 2021. 11(1): p. 6239.
  60. Stranneheim, H., et al., Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients. Genome Med, 2021. 13(1): p. 40.
  61. Stratmann, S., et al., Genomic characterization of relapsed acute myeloid leukemia reveals novel putative therapeutic targets. Blood Adv, 2021. 5(3): p. 900-912.
  62. Strid, T., et al., B Lymphocyte Specification Is Preceded by Extensive Epigenetic Priming in Multipotent Progenitors. J Immunol, 2021. 206(11): p. 2700-2713.
  63. Sutton, L.A., et al., Comparative analysis of targeted next-generation sequencing panels for the detection of gene mutations in chronic lymphocytic leukemia: an ERIC multi-center study. Haematologica, 2021. 106(3): p. 682-691.
  64. Svanberg, C., et al., Complement-Opsonized HIV Modulates Pathways Involved in Infection of Cervical Mucosal Tissues: A Transcriptomic and Proteomic Study. Front Immunol, 2021. 12: p. 625649.
  65. Svensson, A., et al., Genetic Variant Score and Arrhythmogenic Right Ventricular Cardiomyopathy Phenotype in Plakophilin-2 Mutation Carriers. Cardiology, 2021. 146(6): p. 763-771.
  66. Sydow, S., et al., Genomic and transcriptomic characterization of desmoplastic small round cell tumors. Genes Chromosomes Cancer, 2021. 60(9): p. 595-603.
  67. Thuresson, A.C., et al., A novel heterozygous variant in FGF9 associated with previously unreported features of multiple synostosis syndrome 3. Clin Genet, 2021. 99(2): p. 325-329.
  68. Todisco, G., et al., Co-mutation pattern, clonal hierarchy, and clone size concur to determine disease phenotype of SRSF2(P95)-mutated neoplasms. Leukemia, 2021. 35(8): p. 2371-2381.
  69. Tolomeo, D., et al., BL1391: an established cell line from a human malignant peripheral nerve sheath tumor with unique genomic features. Hum Cell, 2021. 34(1): p. 238-245.
  70. von Stedingk, K., et al., Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients. Sci Rep, 2021. 11(1): p. 5307.
  71. Wallander, K., et al., Cell-free tumour DNA analysis detects copy number alterations in gastro-oesophageal cancer patients. PLoS One, 2021. 16(2): p. e0245488.
  72. Wallander, K., et al., Massive parallel sequencing in individuals with multiple primary tumours reveals the benefit of re-analysis. Hered Cancer Clin Pract, 2021. 19(1): p. 46.
  73. Wedge, E., et al., Allogeneic Hematopoietic Stem Cell Transplantation for Chronic Myelomonocytic Leukemia: Clinical and Molecular Genetic Prognostic Factors in a Nordic Population. Transplant Cell Ther, 2021. 27(12): p. 991.e1-991.e9.
  74. Whitman, M.C., et al., TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy. Hum Genet, 2021. 140(12): p. 1709-1731.
  75. Wijk, S.C., et al., Human Primary Airway Basal Cells Display a Continuum of Molecular Phases from Health to Disease in Chronic Obstructive Pulmonary Disease. Am J Respir Cell Mol Biol, 2021. 65(1): p. 103-113.
  76. Zelco, A., et al., Single-cell atlas reveals meningeal leukocyte heterogeneity in the developing mouse brain. Genes Dev, 2021. 35(15-16): p. 1190-1207.
  77. Zerdes, I., et al., Interplay between copy number alterations and immune profiles in the early breast cancer Scandinavian Breast Group 2004-1 randomized phase II trial: results from a feasibility study. NPJ Breast Cancer, 2021. 7(1): p. 144.
  78. Zhou, J., M. Rasmussen, and P. Ekström, cGMP-PKG dependent transcriptome in normal and degenerating retinas: Novel insights into the retinitis pigmentosa pathology. Exp Eye Res, 2021. 212: p. 108752.
2020 (59)
  1. Abdulla, M., et al., Cell-of-origin determined by both gene expression profiling and immunohistochemistry is the strongest predictor of survival in patients with diffuse large B-cell lymphoma. Am J Hematol, 2020. 95(1): p. 57-67.
  2. Amini, R.M., et al., Clonal hematopoiesis in patients with high-grade B-cell lymphoma is associated with inferior outcome. Am J Hematol, 2020. 95(10): p. E287-e289.
  3. Arbajian, E., et al., Deep sequencing of myxoinflammatory fibroblastic sarcoma. Genes Chromosomes Cancer, 2020. 59(5): p. 309-317.
  4. Bailey, M.H., et al., Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples. Nat Commun, 2020. 11(1): p. 4748.
  5. Bernard, E., et al., Implications of TP53 allelic state for genome stability, clinical presentation and outcomes in myelodysplastic syndromes. Nat Med, 2020. 26(10): p. 1549-1556.
  6. Boiko, I., et al., Genomic epidemiology and antimicrobial resistance determinants of Neisseria gonorrhoeae isolates from Ukraine, 2013-2018. Apmis, 2020. 128(7): p. 465-475.
  7. Börjesson, S., et al., A link between the newly described colistin resistance gene mcr-9 and clinical Enterobacteriaceae isolates carrying bla(SHV-12) from horses in Sweden. J Glob Antimicrob Resist, 2020. 20: p. 285-289.
  8. Börjesson, S., et al., Low occurrence of extended-spectrum cephalosporinase producing Enterobacteriaceae and no detection of methicillin-resistant coagulase-positive staphylococci in healthy dogs in Sweden. Acta Vet Scand, 2020. 62(1): p. 18.
  9. Botling, J., et al., High-Grade Progression Confers Poor Survival in Pancreatic Neuroendocrine Tumors. Neuroendocrinology, 2020. 110(11-12): p. 891-898.
  10. Brofelth, M., et al., Multiplex profiling of serum proteins in solution using barcoded antibody fragments and next generation sequencing. Commun Biol, 2020. 3(1): p. 339.
  11. Engvall, M., et al., Detection of leukemia gene fusions by targeted RNA-sequencing in routine diagnostics. BMC Med Genomics, 2020. 13(1): p. 106.
  12. Eriksson, L., et al., Difference in virulence between Neisseria meningitidis serogroups W and Y in transgenic mice. BMC Microbiol, 2020. 20(1): p. 92.
  13. Fransson, S., et al., Whole-genome sequencing of recurrent neuroblastoma reveals somatic mutations that affect key players in cancer progression and telomere maintenance. Sci Rep, 2020. 10(1): p. 22432.
  14. Fröding, I., et al., Extended-Spectrum-β-Lactamase- and Plasmid AmpC-Producing Escherichia coli Causing Community-Onset Bloodstream Infection: Association of Bacterial Clones and Virulence Genes with Septic Shock, Source of Infection, and Recurrence. Antimicrob Agents Chemother, 2020. 64(8).
  15. Garcia, M., et al., Sarek: A portable workflow for whole-genome sequencing analysis of germline and somatic variants. F1000Res, 2020. 9: p. 63.
  16. Golparian, D., et al., Genomic epidemiology of Neisseria gonorrhoeae elucidating the gonococcal antimicrobial resistance and lineages/sublineages across Brazil, 2015-16. J Antimicrob Chemother, 2020. 75(11): p. 3163-3172.
  17. Graf, W., et al., Prognostic Impact of BRAF and KRAS Mutation in Patients with Colorectal and Appendiceal Peritoneal Metastases Scheduled for CRS and HIPEC. Ann Surg Oncol, 2020. 27(1): p. 293-300.
  18. Haider, Z., et al., DNA methylation and copy number variation profiling of T-cell lymphoblastic leukemia and lymphoma. Blood Cancer J, 2020. 10(4): p. 45.
  19. Hansson, K., et al., Therapeutic targeting of KSP in preclinical models of high-risk neuroblastoma. Sci Transl Med, 2020. 12(562).
  20. Hofvander, J., et al., PHF1 fusions cause distinct gene expression and chromatin accessibility profiles in ossifying fibromyxoid tumors and mesenchymal cells. Mod Pathol, 2020. 33(7): p. 1331-1340.
  21. Höijer, I., et al., Amplification-free long-read sequencing reveals unforeseen CRISPR-Cas9 off-target activity. Genome Biol, 2020. 21(1): p. 290.
  22. Hua, Y., et al., Molecular characteristics of eae-positive clinical Shiga toxin-producing Escherichia coli in Sweden. Emerg Microbes Infect, 2020. 9(1): p. 2562-2570.
  23. Körberg, I., et al., A progressive and complex clinical course in two family members with ERF-related craniosynostosis: a case report. BMC Med Genet, 2020. 21(1): p. 90.
  24. Köster, J., et al., Genomic and transcriptomic features of dermatofibrosarcoma protuberans: Unusual chromosomal origin of the COL1A1-PDGFB fusion gene and synergistic effects of amplified regions in tumor development. Cancer Genet, 2020. 241: p. 34-41.
  25. Lan, P.T., et al., Genomic analysis and antimicrobial resistance of Neisseria gonorrhoeae isolates from Vietnam in 2011 and 2015-16. J Antimicrob Chemother, 2020. 75(6): p. 1432-1438.
  26. Lemma, M., et al., Streptococcus pneumoniae Nasopharyngeal Carriage among PCV-10-Vaccinated HIV-1-Infected Children with Maintained Serological Memory in Ethiopia. Pathogens, 2020. 9(3).
  27. Li, C.H., et al., Sex differences in oncogenic mutational processes. Nat Commun, 2020. 11(1): p. 4330.
  28. Li, H., et al., Early growth response 1 regulates hematopoietic support and proliferation in human primary bone marrow stromal cells. Haematologica, 2020. 105(5): p. 1206-1215.
  29. Li, X., et al., Ex Vivo Organoid Cultures Reveal the Importance of the Tumor Microenvironment for Maintenance of Colorectal Cancer Stem Cells. Cancers (Basel), 2020. 12(4).
  30. Löwenmark, T., et al., Parvimonas micra as a putative non-invasive faecal biomarker for colorectal cancer. Sci Rep, 2020. 10(1): p. 15250.
  31. Magnusson, M., et al., Loqusdb: added value of an observations database of local genomic variation. BMC Bioinformatics, 2020. 21(1): p. 273.
  32. Malcovati, L., et al., SF3B1-mutant MDS as a distinct disease subtype: a proposal from the International Working Group for the Prognosis of MDS. Blood, 2020. 136(2): p. 157-170.
  33. Malmström, A., et al., ABCB1 single-nucleotide variants and survival in patients with glioblastoma treated with radiotherapy concomitant with temozolomide. Pharmacogenomics J, 2020. 20(2): p. 213-219.
  34. Malmström, A., et al., Do we really know who has an MGMT methylated glioma? Results of an international survey regarding use of MGMT analyses for glioma. Neurooncol Pract, 2020. 7(1): p. 68-76.
  35. Marzouka, N.A., et al., Recurring urothelial carcinomas show genomic rearrangements incompatible with a direct relationship. Sci Rep, 2020. 10(1): p. 19539.
  36. Nilsson, O., et al., Decreased detection of ESBL- or pAmpC-producing Escherichia coli in broiler breeders imported into Sweden. Acta Vet Scand, 2020. 62(1): p. 33.
  37. Puls, F., et al., Recurrent Fusions Between YAP1 and KMT2A in Morphologically Distinct Neoplasms Within the Spectrum of Low-grade Fibromyxoid Sarcoma and Sclerosing Epithelioid Fibrosarcoma. Am J Surg Pathol, 2020. 44(5): p. 594-606.
  38. Ramos, J., et al., Identification and rescue of a tRNA wobble inosine deficiency causing intellectual disability disorder. Rna, 2020. 26(11): p. 1654-1666.
  39. Rossitti, H.M., et al., Activation of RAS Signalling is Associated with Altered Cell Adhesion in Phaeochromocytoma. Int J Mol Sci, 2020. 21(21).
  40. Säll, O., E. Olofsson, and S. Jacobsson, High genomic-based predicted strain coverage among invasive meningococcal isolates when combining Bexsero and Trumenba vaccines. Vaccine, 2020. 38(28): p. 4374-4378.
  41. Sandén, C., et al., Clonal competition within complex evolutionary hierarchies shapes AML over time. Nat Commun, 2020. 11(1): p. 579.
  42. Sjödahl, G., et al., Molecular changes during progression from nonmuscle invasive to advanced urothelial carcinoma. Int J Cancer, 2020. 146(9): p. 2636-2647.
  43. Söderquist, B., et al., Staphylococcus argenteus as an etiological agent of prosthetic hip joint infection: a case presentation. J Bone Jt Infect, 2020. 5(4): p. 172-175.
  44. Stenmark, B., et al., Complete genome and methylome analysis of Neisseria meningitidis associated with increased serogroup Y disease. Sci Rep, 2020. 10(1): p. 3644.
  45. Stödberg, T., et al., SLC12A2 mutations cause NKCC1 deficiency with encephalopathy and impaired secretory epithelia. Neurol Genet, 2020. 6(4): p. e478.
  46. Stödberg, T., et al., Epilepsy syndromes, etiologies, and the use of next-generation sequencing in epilepsy presenting in the first 2 years of life: A population-based study. Epilepsia, 2020. 61(11): p. 2486-2499.
  47. Tamborero, D., et al., Support systems to guide clinical decision-making in precision oncology: The Cancer Core Europe Molecular Tumor Board Portal. Nat Med, 2020. 26(7): p. 992-994.
  48. Thams, S., et al., Heterozygous variants in DCC: Beyond congenital mirror movements. Neurol Genet, 2020. 6(6): p. e526.
  49. Tomić, T.T., et al., MYO5B mutations in pheochromocytoma/paraganglioma promote cancer progression. PLoS Genet, 2020. 16(6): p. e1008803.
  50. Tsakonas, G., et al., An immune gene expression signature distinguishes central nervous system metastases from primary tumours in non-small-cell lung cancer. Eur J Cancer, 2020. 132: p. 24-34.
  51. Wang, H., et al., Hepatitis E virus genotype 3 strains and a plethora of other viruses detected in raw and still in tap water. Water Res, 2020. 168: p. 115141.
  52. Wang, H., et al., Variations among Viruses in Influent Water and Effluent Water at a Wastewater Plant over One Year as Assessed by Quantitative PCR and Metagenomics. Appl Environ Microbiol, 2020. 86(24).
  53. Wang, T., et al., Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders. Nat Commun, 2020. 11(1): p. 4932.
  54. Wildeman, P., et al., Genomic characterization and outcome of prosthetic joint infections caused by Staphylococcus aureus. Sci Rep, 2020. 10(1): p. 5938.
  55. Willerton, L., et al., Geographically widespread invasive meningococcal disease caused by a ciprofloxacin resistant non-groupable strain of the ST-175 clonal complex. J Infect, 2020. 81(4): p. 575-584.
  56. Xu, Y., et al., Associations between serum concentrations of perfluoroalkyl substances and DNA methylation in women exposed through drinking water: A pilot study in Ronneby, Sweden. Environ Int, 2020. 145: p. 106148.
  57. Yang, M., et al., 13q12.2 deletions in acute lymphoblastic leukemia lead to upregulation of FLT3 through enhancer hijacking. Blood, 2020. 136(8): p. 946-956.
  58. Yasui, H., et al., A dynamic mutational landscape associated with an inter-regionally diverse immune response in malignant rhabdoid tumour. J Pathol, 2020. 252(1): p. 22-28.
  59. Ylinen, E., et al., Hemolytic uremic syndrome caused by Shiga toxin-producing Escherichia coli in children: incidence, risk factors, and clinical outcome. Pediatr Nephrol, 2020. 35(9): p. 1749-1759.
2019 (41)
  1. Bai, X., et al., Molecular Characterization and Comparative Genomics of Clinical Hybrid Shiga Toxin-Producing and Enterotoxigenic Escherichia coli (STEC/ETEC) Strains in Sweden. Sci Rep, 2019. 9(1): p. 5619.
  2. Bernardo, C., et al., Molecular pathology of the luminal class of urothelial tumors. J Pathol, 2019. 249(3): p. 308-318.
  3. Biswas, D., et al., A clonal expression biomarker associates with lung cancer mortality. Nat Med, 2019. 25(10): p. 1540-1548.
  4. Blomqvist, M., et al., β-Mannosidosis caused by a novel homozygous intragenic inverted duplication in MANBA. Cold Spring Harb Mol Case Stud, 2019. 5(3).
  5. Brodin, B.A., et al., Drug sensitivity testing on patient-derived sarcoma cells predicts patient response to treatment and identifies c-Sarc inhibitors as active drugs for translocation sarcomas. Br J Cancer, 2019. 120(4): p. 435-443.
  6. Calvo-Garrido, J., et al., SQSTM1/p62-Directed Metabolic Reprogramming Is Essential for Normal Neurodifferentiation. Stem Cell Reports, 2019. 12(4): p. 696-711.
  7. Chibani, Z., et al., Novel BEST1 gene mutations associated with two different forms of macular dystrophy in Tunisian families. Clin Exp Ophthalmol, 2019. 47(8): p. 1063-1073.
  8. Clewemar, P., et al., Expanding the phenotypic spectrum of osteogenesis imperfecta type V including heterotopic ossification of muscle origins and attachments. Mol Genet Genomic Med, 2019. 7(7): p. e00723.
  9. Dahlberg, J., et al., Arteria: An automation system for a sequencing core facility. Gigascience, 2019. 8(12).
  10. De Laere, B., et al., TP53 Outperforms Other Androgen Receptor Biomarkers to Predict Abiraterone or Enzalutamide Outcome in Metastatic Castration-Resistant Prostate Cancer. Clin Cancer Res, 2019. 25(6): p. 1766-1773.
  11. De Laere, B., et al., Androgen Receptor Burden and Poor Response to Abiraterone or Enzalutamide in TP53 Wild-Type Metastatic Castration-Resistant Prostate Cancer. JAMA Oncol, 2019. 5(7): p. 1060-1062.
  12. Dutta, R.K., et al., A somatic mutation in CLCN2 identified in a sporadic aldosterone-producing adenoma. Eur J Endocrinol, 2019. 181(5): p. K37-k41.
  13. Dyrdak, R., et al., Intra- and interpatient evolution of enterovirus D68 analyzed by whole-genome deep sequencing. Virus Evol, 2019. 5(1): p. vez007.
  14. Eisfeldt, J., et al., Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements. PLoS Genet, 2019. 15(2): p. e1007858.
  15. Fagerström, A., et al., Comparative distribution of extended-spectrum beta-lactamase-producing Escherichia coli from urine infections and environmental waters. PLoS One, 2019. 14(11): p. e0224861.
  16. Gianecini, R.A., et al., Genome-based epidemiology and antimicrobial resistance determinants of Neisseria gonorrhoeae isolates with decreased susceptibility and resistance to extended-spectrum cephalosporins in Argentina in 2011-16. J Antimicrob Chemother, 2019. 74(6): p. 1551-1559.
  17. Grigelioniene, G., et al., Gain-of-function mutation of microRNA-140 in human skeletal dysplasia. Nat Med, 2019. 25(4): p. 583-590.
  18. Gudmundsson, S., et al., A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 – Review of the literature. Eur J Med Genet, 2019. 62(6): p. 103526.
  19. Gudmundsson, S., et al., TAF1, associated with intellectual disability in humans, is essential for embryogenesis and regulates neurodevelopmental processes in zebrafish. Sci Rep, 2019. 9(1): p. 10730.
  20. Haider, Z., et al., An integrated transcriptome analysis in T-cell acute lymphoblastic leukemia links DNA methylation subgroups to dysregulated TAL1 and ANTP homeobox gene expression. Cancer Med, 2019. 8(1): p. 311-324.
  21. Heenkenda, M.K., et al., Assessment of genetic and non-genetic risk factors for venous thromboembolism in glioblastoma – The predictive significance of B blood group. Thromb Res, 2019. 183: p. 136-142.
  22. Hofvander, J., et al., Undifferentiated pleomorphic sarcomas with PRDM10 fusions have a distinct gene expression profile. J Pathol, 2019. 249(4): p. 425-434.
  23. Hyrenius-Wittsten, A., et al., FLT3(N676K) drives acute myeloid leukemia in a xenograft model of KMT2A-MLLT3 leukemogenesis. Leukemia, 2019. 33(9): p. 2310-2314.
  24. Jensen, K.V., et al., Diagnostic pitfalls in vitamin B6-dependent epilepsy caused by mutations in the PLPBP gene. JIMD Rep, 2019. 50(1): p. 1-8.
  25. Kollberg, P., et al., Molecular subtypes applied to a population-based modern cystectomy series do not predict cancer-specific survival. Urol Oncol, 2019. 37(10): p. 791-799.
  26. Kristiansen, A., et al., Somatic alterations detected in diagnostic prostate biopsies provide an inadequate representation of multifocal prostate cancer. Prostate, 2019. 79(8): p. 920-928.
  27. Krone, M., et al., Increase of invasive meningococcal serogroup W disease in Europe, 2013 to 2017. Euro Surveill, 2019. 24(14).
  28. Ku, A., et al., A urinary extracellular vesicle microRNA biomarker discovery pipeline; from automated extracellular vesicle enrichment by acoustic trapping to microRNA sequencing. PLoS One, 2019. 14(5): p. e0217507.
  29. Kvarnung, M., et al., Ataxia in Patients With Bi-Allelic NFASC Mutations and Absence of Full-Length NF186. Front Genet, 2019. 10: p. 896.
  30. La Fleur, L., et al., Mutation patterns in a population-based non-small cell lung cancer cohort and prognostic impact of concomitant mutations in KRAS and TP53 or STK11. Lung Cancer, 2019. 130: p. 50-58.
  31. Lindstrand, A., et al., 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. Genome Med, 2019. 11(1): p. 68.
  32. Maffezzini, C., et al., Mutations in the mitochondrial tryptophanyl-tRNA synthetase cause growth retardation and progressive leukoencephalopathy. Mol Genet Genomic Med, 2019. 7(6): p. e654.
  33. Magnusson, C., et al., Staphylococcus aureus isolates from nares of orthopaedic patients in Sweden are mupirocin susceptible. Infect Dis (Lond), 2019. 51(6): p. 475-478.
  34. Piarulli, G., et al., Gene fusion involving the insulin-like growth factor 1 receptor in an ALK-negative inflammatory myofibroblastic tumour. Histopathology, 2019. 74(7): p. 1098-1102.
  35. Radhakrishnan, P., et al., Meckel syndrome: Clinical and mutation profile in six fetuses. Clin Genet, 2019. 96(6): p. 560-565.
  36. Rydén, J., et al., Male sex and the pattern of recurrent myeloid mutations are strong independent predictors of blood transfusion intensity in patients with myelodysplastic syndromes. Leukemia, 2019. 33(2): p. 522-527.
  37. Stenmark, B., B. Hellmark, and B. Söderquist, Genomic analysis of Staphylococcus capitis isolated from blood cultures in neonates at a neonatal intensive care unit in Sweden. Eur J Clin Microbiol Infect Dis, 2019. 38(11): p. 2069-2075.
  38. Thuresson, A.C., et al., Whole genome sequencing of consanguineous families reveals novel pathogenic variants in intellectual disability. Clin Genet, 2019. 95(3): p. 436-439.
  39. Tobiasson, M., et al., Angioimmunoblastic T-cell lymphoma and myelodysplastic syndrome with mutations in TET2, DNMT3 and CUX1 – azacitidine induces only lymphoma remission. Leuk Lymphoma, 2019. 60(13): p. 3316-3319.
  40. Van Dijck, A., et al., Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP. Biol Psychiatry, 2019. 85(4): p. 287-297.
  41. Yang, M., et al., Proteogenomics and Hi-C reveal transcriptional dysregulation in high hyperdiploid childhood acute lymphoblastic leukemia. Nat Commun, 2019. 10(1): p. 1519.
2018 (33)
  1. Baskaran, S., et al., Primary glioblastoma cells for precision medicine: a quantitative portrait of genomic (in)stability during the first 30 passages. Neuro Oncol, 2018. 20(8): p. 1080-1091.
  2. Björklund, A.T., et al., Complete Remission with Reduction of High-Risk Clones following Haploidentical NK-Cell Therapy against MDS and AML. Clin Cancer Res, 2018. 24(8): p. 1834-1844.
  3. Brueffer, C., et al., Clinical Value of RNA Sequencing-Based Classifiers for Prediction of the Five Conventional Breast Cancer Biomarkers: A Report From the Population-Based Multicenter Sweden Cancerome Analysis Network-Breast Initiative. JCO Precis Oncol, 2018. 2.
  4. Darin, N., et al., γ-glutamyl transpeptidase deficiency caused by a large homozygous intragenic deletion in GGT1. Eur J Hum Genet, 2018. 26(6): p. 808-817.
  5. Ferreira, C.R., et al., A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation. Am J Hum Genet, 2018. 103(4): p. 553-567.
  6. Henström, M., et al., Functional variants in the sucrase-isomaltase gene associate with increased risk of irritable bowel syndrome. Gut, 2018. 67(2): p. 263-270.
  7. Kapur, R., et al., Gastrointestinal microbiota contributes to the development of murine transfusion-related acute lung injury. Blood Adv, 2018. 2(13): p. 1651-1663.
  8. Karlsson, T., et al., LMO7 and LIMCH1 interact with LRIG proteins in lung cancer, with prognostic implications for early-stage disease. Lung Cancer, 2018. 125: p. 174-184.
  9. Kvarnung, M., et al., Genomic screening in rare disorders: New mutations and phenotypes, highlighting ALG14 as a novel cause of severe intellectual disability. Clin Genet, 2018. 94(6): p. 528-537.
  10. La Fleur, L., et al., Expression of scavenger receptor MARCO defines a targetable tumor-associated macrophage subset in non-small cell lung cancer. Int J Cancer, 2018. 143(7): p. 1741-1752.
  11. Lazarevic, V., et al., Isolated myelosarcoma is characterized by recurrent NFE2 mutations and concurrent preleukemic clones in the bone marrow. Blood, 2018. 131(5): p. 577-581.
  12. Li, J.F., et al., Transcriptional landscape of B cell precursor acute lymphoblastic leukemia based on an international study of 1,223 cases. Proc Natl Acad Sci U S A, 2018. 115(50): p. E11711-e11720.
  13. Lundin, K.E., et al., Eleven percent intact PGM3 in a severely immunodeficient patient with a novel splice-site mutation, a case report. BMC Pediatr, 2018. 18(1): p. 285.
  14. Mayrhofer, M., et al., Cell-free DNA profiling of metastatic prostate cancer reveals microsatellite instability, structural rearrangements and clonal hematopoiesis. Genome Med, 2018. 10(1): p. 85.
  15. McNair, C., et al., Differential impact of RB status on E2F1 reprogramming in human cancer. J Clin Invest, 2018. 128(1): p. 341-358.
  16. Mer, A.S., et al., Expression levels of long non-coding RNAs are prognostic for AML outcome. J Hematol Oncol, 2018. 11(1): p. 52.
  17. Nilsson, A., et al., Characterization of Swedish Campylobacter coli clade 2 and clade 3 water isolates. Microbiologyopen, 2018. 7(4): p. e00583.
  18. Norder, H., et al., Hepatitis E Virus Genotype 3 Genomes from RNA-Positive but Serologically Negative Plasma Donors Have CUG as the Start Codon for ORF3. Intervirology, 2018. 61(2): p. 96-103.
  19. Paucar, M., et al., Chorea, psychosis, acanthocytosis, and prolonged survival associated with ELAC2 mutations. Neurology, 2018. 91(15): p. 710-712.
  20. Pellagatti, A., et al., Impact of spliceosome mutations on RNA splicing in myelodysplasia: dysregulated genes/pathways and clinical associations. Blood, 2018. 132(12): p. 1225-1240.
  21. Pettersson, M., et al., Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias. Hum Mutat, 2018. 39(10): p. 1456-1467.
  22. Roswall, P., et al., Microenvironmental control of breast cancer subtype elicited through paracrine platelet-derived growth factor-CC signaling. Nat Med, 2018. 24(4): p. 463-473.
  23. Rydén, L., et al., Minimizing inequality in access to precision medicine in breast cancer by real-time population-based molecular analysis in the SCAN-B initiative. Br J Surg, 2018. 105(2): p. e158-e168.
  24. Sandmann, S., et al., appreci8: a pipeline for precise variant calling integrating 8 tools. Bioinformatics, 2018. 34(24): p. 4205-4212.
  25. Scharenberg, C., et al., Megakaryocytes harbour the del(5q) abnormality despite complete clinical and cytogenetic remission induced by lenalidomide treatment. Br J Haematol, 2018. 180(4): p. 526-533.
  26. Shiozawa, Y., et al., Aberrant splicing and defective mRNA production induced by somatic spliceosome mutations in myelodysplasia. Nat Commun, 2018. 9(1): p. 3649.
  27. Sundin, M., et al., Late presenting atypical severe combined immunodeficiency (SCID) associated with a novel missense mutation in DCLRE1C. Pediatr Allergy Immunol, 2018. 29(1): p. 108-111.
  28. Tham, E., et al., Genotype-Phenotype Correlation of PLOD2 Skeletal Dysplasias Using Structural Information. J Bone Miner Res, 2018. 33(7): p. 1377-1378.
  29. Tran, A.N., et al., High-resolution detection of chromosomal rearrangements in leukemias through mate pair whole genome sequencing. PLoS One, 2018. 13(3): p. e0193928.
  30. Valind, A., et al., Neuroblastoma with flat genomic profile: a question of representativity? BMJ Case Rep, 2018. 2018.
  31. Valind, A., et al., Convergent evolution of 11p allelic loss in multifocal Wilms tumors arising in WT1 mutation carriers. Pediatr Blood Cancer, 2018. 65(11): p. e27301.
  32. Wang, H., et al., Differential removal of human pathogenic viruses from sewage by conventional and ozone treatments. Int J Hyg Environ Health, 2018. 221(3): p. 479-488.
  33. Wang, M., et al., Development and Validation of a Novel RNA Sequencing-Based Prognostic Score for Acute Myeloid Leukemia. J Natl Cancer Inst, 2018. 110(10): p. 1094-1101.
2017 (43)
  1. Bergman, J., et al., The Human Adrenal Gland Proteome Defined by Transcriptomics and Antibody-Based Profiling. Endocrinology, 2017. 158(2): p. 239-251.
  2. Bondeson, M.L., et al., A nonsense mutation in CEP55 defines a new locus for a Meckel-like syndrome, an autosomal recessive lethal fetal ciliopathy. Clin Genet, 2017. 92(5): p. 510-516.
  3. Botling, J. and M. Sandelin, Immune Biomarkers on the Radar-Comprehensive “Immunograms” for Multimodal Treatment Prediction. J Thorac Oncol, 2017. 12(5): p. 770-772.
  4. Bramswig, N.C., et al., Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism. Hum Genet, 2017. 136(2): p. 179-192.
  5. Davies, H., et al., HRDetect is a predictor of BRCA1 and BRCA2 deficiency based on mutational signatures. Nat Med, 2017. 23(4): p. 517-525.
  6. De Laere, B., et al., Comprehensive Profiling of the Androgen Receptor in Liquid Biopsies from Castration-resistant Prostate Cancer Reveals Novel Intra-AR Structural Variation and Splice Variant Expression Patterns. Eur Urol, 2017. 72(2): p. 192-200.
  7. Eisfeldt, J., et al., TIDDIT, an efficient and comprehensive structural variant caller for massive parallel sequencing data. F1000Res, 2017. 6: p. 664.
  8. Grigelioniene, G., et al., A Large Inversion Involving GNAS Exon A/B and All Exons Encoding Gsα Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B). J Bone Miner Res, 2017. 32(4): p. 776-783.
  9. Grinberg, M., et al., Reaching the limits of prognostication in non-small cell lung cancer: an optimized biomarker panel fails to outperform clinical parameters. Mod Pathol, 2017. 30(7): p. 964-977.
  10. Gudmundsson, S., et al., Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26. Hum Mol Genet, 2017. 26(6): p. 1070-1077.
  11. Hadizadeh, F., et al., Stool frequency is associated with gut microbiota composition. Gut, 2017. 66(3): p. 559-560.
  12. Jabs, V., et al., Integrative analysis of genome-wide gene copy number changes and gene expression in non-small cell lung cancer. PLoS One, 2017. 12(11): p. e0187246.
  13. Jamalpour, M., et al., Tumor SHB gene expression affects disease characteristics in human acute myeloid leukemia. Tumour Biol, 2017. 39(10): p. 1010428317720643.
  14. Karlsson, A., et al., Gene Expression Profiling of Large Cell Lung Cancer Links Transcriptional Phenotypes to the New Histological WHO 2015 Classification. J Thorac Oncol, 2017. 12(8): p. 1257-1267.
  15. Lilljebjörn, H. and T. Fioretos, New oncogenic subtypes in pediatric B-cell precursor acute lymphoblastic leukemia. Blood, 2017. 130(12): p. 1395-1401.
  16. Malgerud, L., et al., Bioinformatory-assisted analysis of next-generation sequencing data for precision medicine in pancreatic cancer. Mol Oncol, 2017. 11(10): p. 1413-1429.
  17. Marincevic-Zuniga, Y., et al., Transcriptome sequencing in pediatric acute lymphoblastic leukemia identifies fusion genes associated with distinct DNA methylation profiles. J Hematol Oncol, 2017. 10(1): p. 148.
  18. Mathot, L., et al., Somatic Ephrin Receptor Mutations Are Associated with Metastasis in Primary Colorectal Cancer. Cancer Res, 2017. 77(7): p. 1730-1740.
  19. Mortera-Blanco, T., et al., SF3B1-initiating mutations in MDS-RSs target lymphomyeloid hematopoietic stem cells. Blood, 2017. 130(7): p. 881-890.
  20. Nilsson, A., et al., Genomic and phenotypic characteristics of Swedish C. jejuni water isolates. PLoS One, 2017. 12(12): p. e0189222.
  21. Nilsson, D., et al., Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation. Hum Mutat, 2017. 38(2): p. 180-192.
  22. Olsson, K.S., et al., Common founder effects of hereditary hemochromatosis, Wilson´s disease, the long QT syndrome and autosomal recessive deafness caused by two novel mutations in the WHRN and TMC1 genes. Hereditas, 2017. 154: p. 16.
  23. Rao, S., et al., RANK rewires energy homeostasis in lung cancer cells and drives primary lung cancer. Genes Dev, 2017. 31(20): p. 2099-2112.
  24. Sandmann, S., et al., Evaluating Variant Calling Tools for Non-Matched Next-Generation Sequencing Data. Sci Rep, 2017. 7: p. 43169.
  25. Seipel, A.H., et al., Genetic profile of ductal adenocarcinoma of the prostate. Hum Pathol, 2017. 69: p. 1-7.
  26. Shiozawa, Y., et al., Gene expression and risk of leukemic transformation in myelodysplasia. Blood, 2017. 130(24): p. 2642-2653.
  27. Sikora, P., et al., Genomic Variation in IbA10G2 and Other Patient-Derived Cryptosporidium hominis Subtypes. J Clin Microbiol, 2017. 55(3): p. 844-858.
  28. Svensson, A., et al., Identification of two distinct mesenchymal stromal cell populations in human malignant glioma. J Neurooncol, 2017. 131(2): p. 245-254.
  29. Tegelberg, S., et al., Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model. Orphanet J Rare Dis, 2017. 12(1): p. 73.
  30. Tesi, B., et al., Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms. Blood, 2017. 129(16): p. 2266-2279.
  31. Unnikrishnan, A., et al., Integrative Genomics Identifies the Molecular Basis of Resistance to Azacitidine Therapy in Myelodysplastic Syndromes. Cell Rep, 2017. 20(3): p. 572-585.
  32. Wang, M., et al., Validation of risk stratification models in acute myeloid leukemia using sequencing-based molecular profiling. Leukemia, 2017. 31(10): p. 2029-2036.
  33. Wilbe, M., et al., A novel approach using long-read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders. Prenat Diagn, 2017. 37(11): p. 1146-1154.
  34. Yip, B.H., et al., The U2AF1S34F mutation induces lineage-specific splicing alterations in myelodysplastic syndromes. J Clin Invest, 2017. 127(9): p. 3557.
2016 (27)
  1. Asad, S., et al., The tight junction gene Claudin-1 is associated with atopic dermatitis among Ethiopians. J Eur Acad Dermatol Venereol, 2016. 30(11): p. 1939-1941.
  2. Bemark, M., et al., Limited clonal relatedness between gut IgA plasma cells and memory B cells after oral immunization. Nat Commun, 2016. 7: p. 12698.
  3. Djureinovic, D., et al., Profiling cancer testis antigens in non-small-cell lung cancer. JCI Insight, 2016. 1(10): p. e86837.
  4. Haack, T.B., et al., Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy. Am J Hum Genet, 2016. 99(3): p. 735-743.
  5. Hammarsjö, A., et al., Pathogenenic variant in the COL2A1 gene is associated with Spondyloepiphyseal dysplasia type Stanescu. Am J Med Genet A, 2016. 170a(1): p. 266-9.
  6. Ivanov Öfverholm, I., et al., Detailed gene dose analysis reveals recurrent focal gene deletions in pediatric B-cell precursor acute lymphoblastic leukemia. Leuk Lymphoma, 2016. 57(9): p. 2161-70.
  7. Jakobsson, H.E., et al., Draft Genome Sequence of Moraxella catarrhalis Type Strain CCUG 353T. Genome Announc, 2016. 4(3).
  8. Kampmann, C., et al., Composition of human faecal microbiota in resistance to Campylobacter infection. Clin Microbiol Infect, 2016. 22(1): p. 61.e1-61.e8.
  9. Kapferer-Seebacher, I., et al., Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement. Am J Hum Genet, 2016. 99(5): p. 1005-1014.
  10. Kostareva, A., et al., Genetic Spectrum of Idiopathic Restrictive Cardiomyopathy Uncovered by Next-Generation Sequencing. PLoS One, 2016. 11(9): p. e0163362.
  11. Lilljebjörn, H., et al., Identification of ETV6-RUNX1-like and DUX4-rearranged subtypes in paediatric B-cell precursor acute lymphoblastic leukaemia. Nat Commun, 2016. 7: p. 11790.
  12. Ljungström, V., et al., Whole-exome sequencing in relapsing chronic lymphocytic leukemia: clinical impact of recurrent RPS15 mutations. Blood, 2016. 127(8): p. 1007-16.
  13. Maixner, F., et al., The 5300-year-old Helicobacter pylori genome of the Iceman. Science, 2016. 351(6269): p. 162-165.
  14. Mansouri, L., et al., Frequent NFKBIE deletions are associated with poor outcome in primary mediastinal B-cell lymphoma. Blood, 2016. 128(23): p. 2666-2670.
  15. Marincevic-Zuniga, Y., et al., PAX5-ESRRB is a recurrent fusion gene in B-cell precursor pediatric acute lymphoblastic leukemia. Haematologica, 2016. 101(1): p. e20-3.
  16. Mattsson, J.S., et al., Inconsistent results in the analysis of ALK rearrangements in non-small cell lung cancer. BMC Cancer, 2016. 16: p. 603.
  17. McGinn, S., et al., New technologies for DNA analysis–a review of the READNA Project. N Biotechnol, 2016. 33(3): p. 311-30.
  18. Navrkalova, V., et al., ATM mutations in major stereotyped subsets of chronic lymphocytic leukemia: enrichment in subset #2 is associated with markedly short telomeres. Haematologica, 2016. 101(9): p. e369-73.
  19. Pospisilova, S., et al., Innovation in the prognostication of chronic lymphocytic leukemia: how far beyond TP53 gene analysis can we go? Haematologica, 2016. 101(3): p. 263-5.
  20. Raja, E., et al., The protein kinase LKB1 negatively regulates bone morphogenetic protein receptor signaling. Oncotarget, 2016. 7(2): p. 1120-43.
  21. Rosenquist, R., et al., Clinical impact of recurrently mutated genes on lymphoma diagnostics: state-of-the-art and beyond. Haematologica, 2016. 101(9): p. 1002-9.
  22. Salvà-Serra, F., et al., Draft Genome Sequence of Streptococcus gordonii Type Strain CCUG 33482T. Genome Announc, 2016. 4(2).
  23. Stessman, H.A.F., et al., Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders. Am J Hum Genet, 2016. 98(3): p. 541-552.
  24. Stranneheim, H. and A. Wedell, Exome and genome sequencing: a revolution for the discovery and diagnosis of monogenic disorders. J Intern Med, 2016. 279(1): p. 3-15.
  25. Tham, E., et al., A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9. Eur J Hum Genet, 2016. 24(2): p. 198-207.
  26. Thutkawkorapin, J., et al., Exome sequencing in one family with gastric- and rectal cancer. BMC Genet, 2016. 17: p. 41.
  27. Ygberg, S., et al., Biotin and Thiamine Responsive Basal Ganglia Disease–A vital differential diagnosis in infants with severe encephalopathy. Eur J Paediatr Neurol, 2016. 20(3): p. 457-61.
2015 (14)
  1. Cavelier, L., et al., Clonal distribution of BCR-ABL1 mutations and splice isoforms by single-molecule long-read RNA sequencing. BMC Cancer, 2015. 15: p. 45.
  2. Ekvall, S., et al., Mutation in NRAS in familial Noonan syndrome–case report and review of the literature. BMC Med Genet, 2015. 16: p. 95.
  3. Freyer, C., et al., Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4-dihydroxybensoic acid. J Med Genet, 2015. 52(11): p. 779-83.
  4. George, J., et al., Comprehensive genomic profiles of small cell lung cancer. Nature, 2015. 524(7563): p. 47-53.
  5. Hofmeister, W., et al., CTNND2-a candidate gene for reading problems and mild intellectual disability. J Med Genet, 2015. 52(2): p. 111-22.
  6. Kishita, Y., et al., Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26. Am J Hum Genet, 2015. 97(5): p. 761-8.
  7. Lundin, K.E., et al., Susceptibility to infections, without concomitant hyper-IgE, reported in 1976, is caused by hypomorphic mutation in the phosphoglucomutase 3 (PGM3) gene. Clin Immunol, 2015. 161(2): p. 366-72.
  8. Malcovati, L., et al., SF3B1 mutation identifies a distinct subset of myelodysplastic syndrome with ring sideroblasts. Blood, 2015. 126(2): p. 233-41.
  9. Moens, L.N., et al., HaloPlex Targeted Resequencing for Mutation Detection in Clinical Formalin-Fixed, Paraffin-Embedded Tumor Samples. J Mol Diagn, 2015. 17(6): p. 729-39.
  10. Parry, M., et al., Genetics and Prognostication in Splenic Marginal Zone Lymphoma: Revelations from Deep Sequencing. Clin Cancer Res, 2015. 21(18): p. 4174-4183.
  11. Stödberg, T., et al., Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures. Nat Commun, 2015. 6: p. 8038.
  12. Sutton, L.A., et al., Targeted next-generation sequencing in chronic lymphocytic leukemia: a high-throughput yet tailored approach will facilitate implementation in a clinical setting. Haematologica, 2015. 100(3): p. 370-6.
  13. Vale, F.F., et al., Dormant phages of Helicobacter pylori reveal distinct populations in Europe. Sci Rep, 2015. 5: p. 14333.
  14. Wilbe, M., et al., MuSK: a new target for lethal fetal akinesia deformation sequence (FADS). J Med Genet, 2015. 52(3): p. 195-202.
2012 (2)
  1. Osler, W., The science of librarianship. University of Wales at Aberystwyth, July 31, 1917. J Med Libr Assoc, 2012. 100(4 Suppl): p. A.
  2. Wagner, K.C. and G.D. Byrd, Evaluating the effectiveness of clinical medical librarian programs: a systematic review of the literature. J Med Libr Assoc 92(1) January 2004. J Med Libr Assoc, 2012. 100(4 Suppl): p. J.
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