Division of Clinical Genetics
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- 2024
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Mark
Weaponized genomics : potential threats to international and human security
(
- Contribution to journal › Letter
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Mark
Clinical and genetic analyses of a Swedish patient series diagnosed with ataxia
(
- Contribution to journal › Article
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Mark
Exonic trinucleotide repeat expansions in ZFHX3 cause spinocerebellar ataxia type 4 : A poly-glycine disease
(
- Contribution to journal › Article
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Mark
Public attitudes challenge clinical practice on genetic risk disclosure in favour of healthcare-provided direct dissemination to relatives
(
- Contribution to journal › Debate/Note/Editorial
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Mark
Cancer Evolution under Chemotherapy Treatment
2024) In Lund University, Faculty of Medicine Doctoral Dissertation Series(
- Thesis › Doctoral thesis (compilation)
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Mark
Current and emerging sequencing-based tools for precision cancer medicine
(
- Contribution to journal › Scientific review
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Mark
Osteosarcomas With Few Chromosomal Alterations or Adult Onset Are Genetically Heterogeneous
(
- Contribution to journal › Article
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Molecular basis for human aquaporin inhibition
(
- Contribution to journal › Article
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Attenuated huntingtin gene CAG nucleotide repeat size in individuals with Lynch syndrome
(
- Contribution to journal › Article
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Chondroitin Sulfate Proteoglycan 4 Provides New Treatment Approach to Preventing Peritoneal Dissemination in Ovarian Cancer
(
- Contribution to journal › Article
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Mark
Antihypertensive drug targets and breast cancer risk : a two-sample Mendelian randomization study
2024) In European Journal of Epidemiology(
- Contribution to journal › Article
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Mark
A Gradual Transition Toward Anaplasia in Wilms Tumor Through Tolerance to Genetic Damage
2024) In Modern Pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 37(1). p.100382-100382(
- Contribution to journal › Article
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Mark
Gene amplification in neoplasia : A cytogenetic survey of 80 131 cases
(
- Contribution to journal › Article
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Multi-omic and functional analysis for classification and treatment of sarcomas with FUS-TFCP2 or EWSR1-TFCP2 fusions
(
- Contribution to journal › Article
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Mark
Tumor-associated fibrosis : a unique mechanism promoting ovarian cancer metastasis and peritoneal dissemination
2024) In Cancer and Metastasis Reviews(
- Contribution to journal › Scientific review
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Mark
Malignant hyperthermia safety - A nationwide survey of publicly funded Swedish healthcare
(
- Contribution to journal › Article
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Mark
Unwinding the layers of high hyperdiploid childhood acute lymphoblastic leukemia
2024) In Lund University, Faculty of Medicine Doctoral Dissertation Series(
- Thesis › Doctoral thesis (compilation)
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Mark
Sub-Nanomolar Detection of Oligonucleotides Using Molecular Beacons Immobilized on Lightguiding Nanowires
(
- Contribution to journal › Article
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Mark
Retrospective genetic testing (Traceback) in women with early-onset breast cancer after revised national guidelines : a clinical implementation study
2024) In Breast Cancer Research and Treatment(
- Contribution to journal › Article
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Mark
Implementing data on targeted therapy from the INFORM registry platform for children with relapsed cancer in Sweden
(
- Contribution to journal › Article
- 2023
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Mark
Inactivation of RB1, CDKN2A and TP53 have distinct effects on genomic stability at side-by-side comparison in karyotypically normal cells
(
- Contribution to journal › Article
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Mark
The complement receptor C3AR constitutes a novel therapeutic target in NPM1-mutated AML
(
- Contribution to journal › Article
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Mark
The complexity of kidney disease and diagnosing it - Cystatin C, selective glomerular hypofiltration syndromes and proteome regulation
(
- Contribution to journal › Scientific review
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Mark
Updated Stroke Gene Panels : Rapid evolution of knowledge on monogenic causes of stroke
(
- Contribution to journal › Article
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Mark
Giemsa-negative chromosome bands preferentially recombine in cancer-associated translocations and gene fusions
(
- Contribution to journal › Article
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Mark
Germline variants of the genes involved in NF-kB activation are associated with the risk of COPD and lung cancer development
(
- Contribution to journal › Article
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Mark
9-oxo-ODAs suppresses the proliferation of human cervical cancer cells through the inhibition of CDKs and HPV oncoproteins
(
- Contribution to journal › Article
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Mark
The sarcopenia index measured using the lumbar paraspinal muscle is associated with prognosis in endometrial cancer
(
- Contribution to journal › Article
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Mark
Tetraploidization Increases the Motility and Invasiveness of Cancer Cells
(
- Contribution to journal › Article
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Mark
Hallmark discoveries in the biology of Wilms tumour
2023) In Nature Reviews Urology(
- Contribution to journal › Scientific review
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Mark
Small Extracellular Vesicles from adipose-derived stem cells suppress cell proliferation by delivering the let-7 family of microRNAs in ovarian cancer
(
- Contribution to journal › Article
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Mark
Transcriptomic subtyping of malignant peripheral nerve sheath tumours highlights immune signatures, genomic profiles, patient survival and therapeutic targets
(
- Contribution to journal › Article
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Mark
The prognostic impact of limited-staging surgery in patients with stage IA epithelial ovarian cancer : a multi-center study with a propensity score-adjusted analysis
(
- Contribution to journal › Article
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Mark
Skin mesenchymal niches maintain and protect AML-initiating stem cells
(
- Contribution to journal › Article
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Combined GLUT1 and OXPHOS inhibition eliminates acute myeloid leukemia cells by restraining their metabolic plasticity
(
- Contribution to journal › Article
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Mark
Novel precision medicine approaches and treatment strategies in hematological malignancies
(
- Contribution to journal › Scientific review
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Mark
Ovarian cancer : Novel mechanisms and therapeutic targets regarding the microenvironment in the abdominal cavity
(
- Contribution to journal › Article
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Mark
Feasibility to use whole-genome sequencing as a sole diagnostic method to detect genomic aberrations in pediatric B-cell acute lymphoblastic leukemia
(
- Contribution to journal › Article
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Mark
Childhood Cancer Survivors Have Impaired Strain-Derived Myocardial Contractile Reserve by Dobutamine Stress Echocardiography
(
- Contribution to journal › Article
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Mark
SIX1 as a Novel Immunohistochemical Marker in the Differential Diagnosis of Rhabdomyosarcoma
(
- Contribution to journal › Article
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Mark
Weaponized Genomics: New Threats to International Security and Human Rights
2023) In Nature Reviews. Genetics(
- Contribution to journal › Debate/Note/Editorial
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Mark
Breast cancer associated CD169+ macrophages possess broad immunosuppressive functions but enhance antibody secretion by activated B cells
(
- Contribution to journal › Article
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Mark
CRISPR Screens Identify Candidate Therapeutic Targets in Leukemia
2023) In Lund University, Faculty of Medicine Doctoral Dissertation Series(
- Thesis › Doctoral thesis (compilation)
-
Mark
Epigenetics of methylmercury
(
- Contribution to journal › Article
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Mark
The Prognostic Effect of IKZF1 Deletions in ETV6:: RUNX1 and High Hyperdiploid Childhood Acute Lymphoblastic Leukemia
(
- Contribution to journal › Article
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Mark
Genetic Subtypes and Outcome of Patients Aged 1 to 45 Years Old with Acute Lymphoblastic Leukemia in the NOPHO ALL2008 Trial
(
- Contribution to journal › Letter
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Mark
Impact of 1q gains on treatment outcomes of patients with newly diagnosed multiple myeloma in a real-world Swedish population receiving modern treatment
(
- Contribution to journal › Article
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Mark
Systematic orientation of fresh rectal suction biopsies improves histopathological diagnostics in hirschsprung’s disease – a method description and preliminary report
(
- Contribution to journal › Article
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Mark
Functional In Vivo Screening Identifies microRNAs Regulating Metastatic Dissemination of Prostate Cancer Cells to Bone Marrow
(
- Contribution to journal › Article
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Mark
IL1RAP is expressed in several subtypes of pediatric acute lymphoblastic leukemia and can be used as a target to eliminate
ETV6::RUNX1-positive leukemia cells in preclinical models.
(
- Contribution to journal › Article
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Mark
Macrophage infiltration promotes regrowth in MYCN-amplified neuroblastoma after chemotherapy
(
- Contribution to journal › Article
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Mark
Modelling evolution at the boundaries of solid tumours
(
- Contribution to journal › Debate/Note/Editorial
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Mark
High Prevalence of SARS-CoV-2 Omicron Infection Despite High Seroprevalence, Sweden, 2022
(
- Contribution to journal › Article
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Mark
Molecular characteristics of breast tumors in patients screened for germline predisposition from a population-based observational study
(
- Contribution to journal › Article
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Mark
Molecular characteristics of lung adenocarcinoma with respect to patient age at diagnosis
(
- Contribution to journal › Article
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Mark
Clonal origin and development of high hyperdiploidy in childhood acute lymphoblastic leukaemia
(
- Contribution to journal › Article
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Mark
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
(
- Contribution to journal › Article
-
Mark
A cryptic EWSR1::DDIT3 fusion in myxoid liposarcoma: Potential pitfalls with FISH and cytogenetics
(
- Contribution to journal › Article
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Mark
A cloud-based resource for genome coordinate-based exploration and large-scale analysis of chromosome aberrations and gene fusions in cancer
(
- Contribution to journal › Article
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Mark
Identification of COL1A1/2 Mutations and Fusions With Noncoding RNA Genes in Bizarre Parosteal Osteochondromatous Proliferation (Nora Lesion)
2023) In Modern Pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 36(2).(
- Contribution to journal › Article
-
Mark
CD169+ Macrophages in Primary Breast Tumors Associate with Tertiary Lymphoid Structures, Tregs and a Worse Prognosis for Patients with Advanced Breast Cancer
(
- Contribution to journal › Article
-
Mark
Building a precision medicine infrastructure at a national level: The Swedish experience
(
- Contribution to journal › Scientific review
-
Mark
Tumor biology, biomarkers, and liquid biopsy in pediatric renal tumors
(
- Contribution to journal › Scientific review
-
Mark
Genome-wide analysis of KMT2A-rearranged leukemia
2023) In Lund University, Faculty of Medicine Doctoral Dissertation Series(
- Thesis › Doctoral thesis (compilation)
-
Mark
7-month duration of SARS-CoV-2 mucosal immunoglobulin-A responses and protection
(
- Contribution to journal › Letter
-
Mark
Rapid emergence of omicron sublineages expressing spike protein R346T
(
- Contribution to journal › Letter
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Mark
Epithelioid and Spindle Cell Hemangioma : Clinicopathologic Analysis of 18 Primary Bone and Soft Tissue Tumors Highlighting a Predilection for the Hands and Feet, Frequent Multicentricity, and Benign Behavior
(
- Contribution to journal › Article
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Mark
Acquired uniparental isodisomies involving chromosome 12 in paediatric B-cell precursor acute lymphoblastic leukaemia : Associations with chromosome 21 gains and SH2B3 mutations
(
- Contribution to journal › Letter
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Mark
Retinoic acid promotes differentiation of WiT49- but not of CCG99-11 Wilms tumour cells
(
- Contribution to journal › Article
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Mark
Resolving the Pathogenesis of Anaplastic Wilms Tumors through Spatial Mapping of Cancer Cell Evolution
(
- Contribution to journal › Article
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Mark
A hybrid approach to assess the structural impact of long noncoding RNA mutations uncovers key NEAT1 interactions in colorectal cancer
(
- Contribution to journal › Article
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Mark
Expression of Cartilage Oligomeric Matrix Protein in colorectal cancer is an adverse prognostic factor and correlates negatively with infiltrating immune cells and PD-L1 expression
(
- Contribution to journal › Article
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Mark
Wargaming cancer: a strategy for future precision oncology?
(
- Contribution to journal › Article
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Mark
Insertion of the CXXC domain of KMT2A into YAP1 : An unusual mechanism behind the formation of a chimeric oncogenic protein
(
- Contribution to journal › Article
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Mark
A Swedish SCA34 family with late onset ataxia, cerebellar atrophy and ocular movement abnormalities with a novel mutation in ELOVL4
(
- Contribution to journal › Published meeting abstract
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Mark
Extended genetic analysis and tumor characteristics in over 4600 women with suspected hereditary breast and ovarian cancer
(
- Contribution to journal › Article
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Mark
Disruption of the TP53 locus in osteosarcoma leads to TP53 promoter gene fusions and restoration of parts of the TP53 signalling pathway
(
- Contribution to journal › Article
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Mark
Multimodal classification of molecular subtypes in pediatric acute lymphoblastic leukemia
(
- Contribution to journal › Article
-
Mark
Chromosomal Gains as a Favorable Prognostic Factor in Pediatric ALL
(
- Contribution to journal › Article
- 2022
-
Mark
Differential Activation of Immune Effector Processes in Mature Compared to Immature Sacrococcygeal Teratomas
(
- Contribution to journal › Article
-
Mark
Transcriptomics paving the way for improved diagnostics and precision medicine of acute leukemia
(
- Contribution to journal › Article
-
Mark
Aquaglyceroporins and orthodox aquaporins in human adipocytes
(
- Contribution to journal › Article
-
Mark
Microarray profiling of hypothalamic gene expression changes in Huntington’s disease mouse models
2022)(
- Working paper/Preprint › Preprint in preprint archive
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Mark
DNA promoter hypermethylation of melanocyte lineage genes determines melanoma phenotype
(
- Contribution to journal › Article
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Mark
Who are the long-term survivors of recurrent ovarian carcinoma? : a retrospective analysis of a multicenter study
(
- Contribution to journal › Article
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Mark
Obesity contributes to the stealth peritoneal dissemination of ovarian cancer : a multi-institutional retrospective cohort study
(
- Contribution to journal › Article
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Mark
Single base substitution and insertion/deletion mutational signatures in adult core binding factor acute myeloid leukemia
2022) In Leukemia(
- Contribution to journal › Letter
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Mark
Size-based isolation and detection of renal carcinoma cells from whole blood
(
- Contribution to journal › Article
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Mark
Modular design of synthetic receptors for programmed gene regulation in cell therapies
(
- Contribution to journal › Article
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Mark
Inducing synthetic lethality for selective targeting of acute myeloid leukemia cells harboring STAG2 mutations
(
- Contribution to journal › Letter
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Mark
Peritoneal restoration by repurposing vitamin D inhibits ovarian cancer dissemination via blockade of the TGF-β1/thrombospondin-1 axis
(
- Contribution to journal › Article
-
Mark
Metastatic Voyage of Ovarian Cancer Cells in Ascites with the Assistance of Various Cellular Components
(
- Contribution to journal › Scientific review
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Mark
A Study Protocol for Validation and Implementation of Whole-Genome and -Transcriptome Sequencing as a Comprehensive Precision Diagnostic Test in Acute Leukemias
(
- Contribution to journal › Article
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Mark
High CD34 surface expression in BCP-ALL predicts poor induction therapy response and is associated with altered expression of genes related to cell migration and adhesion
(
- Contribution to journal › Article
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Mark
Significance of platinum distribution to predict platinum resistance in ovarian cancer after platinum treatment in neoadjuvant chemotherapy
(
- Contribution to journal › Article
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Mark
Signatures of copy number alterations in human cancer
(
- Contribution to journal › Article
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Mark
Why B(-)other? About the gap of unknowns in ALL
(
- Contribution to journal › Debate/Note/Editorial
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Mark
Merged testing for colorectal cancer syndromes and re-evaluation of genetic variants improve diagnostic yield : Results from a nationwide prospective cohort
(
- Contribution to journal › Article
-
Mark
Referral Indications for Malignant Hyperthermia Susceptibility Diagnostics in Patients without Adverse Anesthetic Events in the Era of Next-generation Sequencing
(
- Contribution to journal › Article
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Mark
Next-Generation Biowarfare : Small in Scale, Sensational in Nature?
(
- Contribution to journal › Debate/Note/Editorial