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- 2024
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Mark
The HLA region in ANCA-associated vasculitis : characterisation of genetic associations in a Scandinavian patient population
(
- Contribution to journal › Article
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Mark
AβPP-tau-HAS1 axis trigger HAS1-related nuclear speckles and gene transcription in Alzheimer's disease
(
- Contribution to journal › Article
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Mark
Human Genetic Variation at rs10071329 Correlates with Adiposity-related Traits, Modulates PPARGC1B Expression, and Alters Brown Adipocyte Function
2024) In Diabetes(
- 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
-
Mark
Epigenome-wide association study of DNA methylation in maternal blood leukocytes with BMI in pregnancy and gestational weight gain
2024) In International Journal of Obesity(
- Contribution to journal › Article
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Mark
The MSC-EV-microRNAome : A Perspective on Therapeutic Mechanisms of Action in Sepsis and ARDS
(
- 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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Mark
Genetic and phenotypic discordance in cardiometabolic diseases
2024) In Lund University, Faculty of Medicine Doctoral Dissertation Series(
- Thesis › Doctoral thesis (compilation)
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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
A genomic mutational constraint map using variation in 76,156 human genomes
(
- Contribution to journal › Article
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Mark
A genome-wide association study of social trust in 33,882 Danish blood donors
(
- Contribution to journal › Article
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Mark
Genetic evidence for T-wave area from 12-lead electrocardiograms to monitor cardiovascular diseases in patients taking diabetes medications
2024) In Human Genetics(
- Contribution to journal › Article
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Mark
CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods
(
- Contribution to journal › Article
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Mark
Genomic alterations in ovarian endometriosis and subsequently diagnosed ovarian carcinoma
(
- Contribution to journal › Article
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Mark
Nigral transcriptomic profiles in Engrailed-1 hemizygous mouse models of Parkinson's disease reveal upregulation of oxidative phosphorylation-related genes associated with delayed dopaminergic neurodegeneration
(
- Contribution to journal › Article
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Mark
Human Leukocyte Antigen Signatures as Pathophysiological Discriminants of Microscopic Colitis Subtypes
(
- Contribution to journal › Article
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Mark
Epigenetic Fingerprint of the SARS-CoV-2 Infection in the Lung of Lethal COVID-19
2024) In Chest(
- 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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Mark
Decoding Genetic Enigmas in Sarcoma
2024) In Lund University, Faculty of Medicine Doctoral Dissertation Series(
- Thesis › Doctoral thesis (compilation)
-
Mark
Manifestations of X-linked pyruvate dehydrogenase complex deficiency in female PDHA1 carriers
2024) In European Journal of Neurology(
- Contribution to journal › Article
- 2023
-
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
-
Mark
A practical approach to curate clonal hematopoiesis of indeterminate potential in human genetic data sets
(
- Contribution to journal › Article
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Mark
The IPDGC/GP2 Hackathon - an open science event for training in data science, genomics, and collaboration using Parkinson’s disease data
(
- 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
Reduced binding of apoE4 to complement factor H promotes amyloid-β oligomerization and neuroinflammation
(
- Contribution to journal › Article
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Mark
Evaluation of genetic demultiplexing of single-cell sequencing data from model species
(
- Contribution to journal › Article
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Mark
HNF1B variant without hyperglycaemia as a cause of isolated profound hypomagnesaemia
(
- Contribution to journal › Article
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Mark
Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry
(
- Contribution to journal › Article
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Mark
The Swedish COG6-CDG experience and a comprehensive literature review
(
- Contribution to journal › Article
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Mark
Type 2 diabetes candidate genes, including PAX5, cause impaired insulin secretion in human pancreatic islets
(
- Contribution to journal › Article
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Mark
Liver saturated fat content associates with hepatic DNA methylation in obese individuals
(
- Contribution to journal › Article
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Mark
Associations of genetically determined lipid traits and lipid-modifying agents with the risk of diabetic retinopathy : A Mendelian randomization study
(
- 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
Manganese efflux transporter SLC30A10 missense polymorphism T95I associated with liver injury retains manganese efflux activity
(
- Contribution to journal › Article
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Mark
Genome-wide analysis of KMT2A-rearranged leukemia
2023) In Lund University, Faculty of Medicine Doctoral Dissertation Series(
- Thesis › Doctoral thesis (compilation)
-
Mark
The genetic regulation of protein expression in cerebrospinal fluid
(
- Contribution to journal › Article
-
Mark
A phenome-wide comparative analysis of genetic discordance between obesity and type 2 diabetes
(
- Contribution to journal › Article
-
Mark
Ethnic, gender and other sociodemographic biases in genome-wide association studies for the most burdensome non-communicable diseases : 2005-2022
(
- Contribution to journal › Article
-
Mark
Causal analysis of plasma IL-8 on carotid intima media thickness, a measure of subclinical atherosclerosis
(
- Contribution to journal › Article
-
Mark
Cross-Ancestry DNA Methylation Marks of Insulin Resistance in Pregnancy : An Integrative Epigenome Wide Association Study
(
- Contribution to journal › Article
-
Mark
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants
(
- 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
[18F]RO948 tau positron emission tomography in genetic and sporadic frontotemporal dementia syndromes
(
- Contribution to journal › Article
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Mark
Characterization of the Mitochondrial Genetic Landscape in Abdominal Aortic Aneurysm
(
- Contribution to journal › Article
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Mark
Epigenome-wide association study of serum folate in maternal peripheral blood leukocytes
(
- Contribution to journal › Article
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Mark
Proteogenomic mapping sets stage for precision medicine
(
- Contribution to journal › Debate/Note/Editorial
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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
Co-occurrence of CLCN2-related leukoencephalopathy and SPG56
(
- Contribution to journal › Article
-
Mark
Best Practices to Promote Data Utility and Reuse by the Non-Traditional Model Organism Community
(
- Contribution to journal › Article
-
Mark
Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk
(
- Contribution to journal › Article
-
Mark
GPR162 is a beta cell CART receptor
(
- 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
-
Mark
Gene-educational attainment interactions in a multi-population genome-wide meta-analysis identify novel lipid loci
(
- Contribution to journal › Article
-
Mark
European and multi-ancestry genome-wide association meta-analysis of atopic dermatitis highlights importance of systemic immune regulation
(
- Contribution to journal › Article
-
Mark
A large meta-analysis identifies genes associated with anterior uveitis
(
- Contribution to journal › Article
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Mark
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis
(
- Contribution to journal › Article
-
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
BRCA1 frameshift variants leading to extended incorrect protein C termini
(
- Contribution to journal › Article
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Mark
Generation of the iPSC line FINi002-A from a male Parkinson's disease patient carrying compound heterozygous mutations in the PRKN gene
(
- Contribution to journal › Article
-
Mark
The molecular genetic landscape of human brain size variation
(
- Contribution to journal › Article
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Mark
Transcription factor networks link B-lymphocyte development and malignant transformation in leukemia
(
- Contribution to journal › Scientific review
-
Mark
Genetic analysis of blood molecular phenotypes reveals common properties in the regulatory networks affecting complex traits
(
- Contribution to journal › Article
-
Mark
Identifying actionable druggable targets for breast cancer : Mendelian randomization and population-based analyses
(
- Contribution to journal › Article
-
Mark
Rare-variant collapsing and bioinformatic analyses for amyloidosis, dementia and Parkinson’s disease in the UK biobank reveal novel susceptibility loci
(
- Contribution to journal › Letter
-
Mark
Mitochondrial heteroplasmic shifts reveal a positive selection of breast cancer
(
- Contribution to journal › Article
-
Mark
Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions
2023) In European Journal of Human Genetics(
- Contribution to journal › Article
-
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
-
Mark
A previously uncharacterized Factor Associated with Metabolism and Energy (FAME/C14orf105/CCDC198/1700011H14Rik) is related to evolutionary adaptation, energy balance, and kidney physiology
(
- Contribution to journal › Article
-
Mark
Circulating triglycerides are associated with human adipose tissue DNA methylation of genes linked to metabolic disease
(
- Contribution to journal › Article
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Mark
Gestational weight gain in pregnant women with obesity is associated with cord blood DNA methylation, which partially mediates offspring anthropometrics
(
- Contribution to journal › Letter
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Mark
Embracing Monogenic Parkinson's Disease : The MJFF Global Genetic PD Cohort
(
- Contribution to journal › Article
-
Mark
Genomic analyses of a large Swedish multi-incident kindred with autosomal dominant Parkinson’s disease with dementia
(
- Contribution to journal › Published meeting abstract
-
Mark
Multimorbidity can run in families - What are implications for clinical practice?
2023) In BMJ(
- Contribution to journal › Debate/Note/Editorial
-
Mark
A novel scatterplot-based method to detect copy number variation (CNV)
(
- Contribution to journal › Article
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Mark
Fast and sensitive validation of fusion transcripts in whole-genome sequencing data
(
- Contribution to journal › Article
-
Mark
Causality assessment of circulating Vitamin D level on venous thromboembolism : A Mendelian randomization study
(
- Contribution to journal › Article
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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
-
Mark
Genetics of circulating inflammatory proteins identifies drivers of immune-mediated disease risk and therapeutic targets
(
- Contribution to journal › Article
-
Mark
Mosaic Loss of Chromosome Y Is Associated With Functional Outcome After Ischemic Stroke
(
- Contribution to journal › Article
-
Mark
Aberrant activation of TCL1A promotes stem cell expansion in clonal haematopoiesis
(
- Contribution to journal › Article
-
Mark
Bone mineral density loci specific to the skull portray potential pleiotropic effects on craniosynostosis
(
- Contribution to journal › Article
-
Mark
Genetic variants associated with weight loss and metabolic outcomes after bariatric surgery : A systematic review
(
- Contribution to journal › Scientific review
-
Mark
Contribution of rare genetic variants to heart failure and cardiomyopathy in the UK Biobank
(
- Contribution to journal › Letter
-
Mark
The Prognostic Effect of IKZF1 Deletions in ETV6:: RUNX1 and High Hyperdiploid Childhood Acute Lymphoblastic Leukemia
(
- Contribution to journal › Article
-
Mark
The DUF3715 domain has a conserved role in RNA-directed transposon silencing
(
- Contribution to journal › Article
-
Mark
Role of mitochondria in early molecular diagnosis and prognosis of cancer
2023) In Lund University, Faculty of Medicine Doctoral Dissertation Series(
- Thesis › Doctoral thesis (compilation)
-
Mark
Rare-variant collapsing analyses of arterial hypertension in the UK biobank
(
- Contribution to journal › Letter
-
Mark
Do GWAS-Identified Risk Variants for Chronic Lymphocytic Leukemia Influence Overall Patient Survival and Disease Progression?
(
- Contribution to journal › Article
-
Mark
Epigenetics and Obesity
(
- Chapter in Book/Report/Conference proceeding › Book chapter
-
Mark
Genetic modification of inflammation- and clonal hematopoiesis-associated cardiovascular risk
(
- Contribution to journal › Article
-
Mark
Deficiency of the Heterogeneous Nuclear Ribonucleoprotein U locus leads to delayed hindbrain neurogenesis
(
- Contribution to journal › Article
- 2022
-
Mark
Genome-wide identification of the genetic basis of amyotrophic lateral sclerosis
(
- Contribution to journal › Article
-
Mark
Regulatory networks and 5' partner usage of miRNA host gene fusions in breast cancer
(
- Contribution to journal › Article
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Mark
A cis-acting structural variation at the ZNF558 locus controls a gene regulatory network in human brain development
(
- Contribution to journal › Article
-
Mark
RIC3 variants are not associated with Parkinson's disease in large European, Latin American, or East Asian cohorts
(
- Contribution to journal › Article
-
Mark
Genomic editing of metformin efficacy-associated genetic variants in SLC47A1 does not alter SLC47A1 expression
(
- Contribution to journal › Article
-
Mark
Epigenetics of type 2 diabetes mellitus and weight change — a tool for precision medicine?
(
- Contribution to journal › Scientific review
-
Mark
Thrombotic Risk Determined by Protein C Receptor (PROCR) Variants among Middle-Aged and Older Adults : A Population-Based Cohort Study
(
- Contribution to journal › Article