101 – 200 of 1935
- show: 100
- |
- sort: year (new to old)
Close
Embed this list
<iframe src=" "
width=" "
height=" "
allowtransparency="true"
frameborder="0">
</iframe>
- 2023
-
Mark
HNF1B variant without hyperglycaemia as a cause of isolated profound hypomagnesaemia
(
- Contribution to journal › Article
-
Mark
Genome-wide analysis of KMT2A-rearranged leukemia
2023) In Lund University, Faculty of Medicine Doctoral Dissertation Series(
- Thesis › Doctoral thesis (compilation)
-
Mark
A phenome-wide comparative analysis of genetic discordance between obesity and type 2 diabetes
(
- Contribution to journal › Article
-
Mark
The genetic regulation of protein expression in cerebrospinal fluid
(
- 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
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
Cross-Ancestry DNA Methylation Marks of Insulin Resistance in Pregnancy : An Integrative Epigenome Wide Association Study
(
- Contribution to journal › Article
-
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
Causal analysis of plasma IL-8 on carotid intima media thickness, a measure of subclinical atherosclerosis
(
- Contribution to journal › Article
-
Mark
Giemsa-negative chromosome bands preferentially recombine in cancer-associated translocations and gene fusions
(
- Contribution to journal › Article
-
Mark
[18F]RO948 tau positron emission tomography in genetic and sporadic frontotemporal dementia syndromes
(
- Contribution to journal › Article
-
Mark
Reduced binding of apoE4 to complement factor H promotes amyloid-β oligomerization and neuroinflammation
(
- Contribution to journal › Article
-
Mark
A practical approach to curate clonal hematopoiesis of indeterminate potential in human genetic data sets
(
- Contribution to journal › Article
-
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
-
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 › Article
-
Mark
Evaluation of genetic demultiplexing of single-cell sequencing data from model species
(
- Contribution to journal › Article
-
Mark
Deficiency of the Heterogeneous Nuclear Ribonucleoprotein U locus leads to delayed hindbrain neurogenesis
(
- Contribution to journal › Article
-
Mark
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants
(
- Contribution to journal › Article
-
Mark
Type 2 diabetes candidate genes, including PAX5, cause impaired insulin secretion in human pancreatic islets
(
- Contribution to journal › Article
-
Mark
Manganese efflux transporter SLC30A10 missense polymorphism T95I associated with liver injury retains manganese efflux activity
(
- Contribution to journal › Article
-
Mark
Liver saturated fat content associates with hepatic DNA methylation in obese individuals
(
- Contribution to journal › Article
-
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
- 2022
-
Mark
Genetic Predisposition to Sporadic and Familial Multiple Myeloma
2022) In Lund University, Faculty of Medicine Doctoral Dissertation Series(
- Thesis › Doctoral thesis (compilation)
-
Mark
Development and inter-laboratory validation of the VISAGE enhanced tool for age estimation from semen using quantitative DNA methylation analysis
(
- 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
A cis-acting structural variation at the ZNF558 locus controls a gene regulatory network in human brain development
(
- Contribution to journal › Article
-
Mark
Novel missense ACAN gene variants linked to familial osteochondritis dissecans cluster in the C-terminal globular domain of aggrecan
(
- Contribution to journal › Article
-
Mark
Perfluoroalkyl substances influence DNA methylation in school-age children highly exposed through drinking water contaminated from firefighting foam: a cohort study in Ronneby, Sweden
(
- Contribution to journal › Article
-
Mark
Return of genomic results does not motivate intent to participate in research for all : Perspectives across 22 countries
(
- 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
Quantitative analysis of redox proteome reveals oxidation-sensitive protein thiols acting in fundamental processes of developmental hematopoiesis
(
- Contribution to journal › Article
-
Mark
Genetics of smoking and risk of clonal hematopoiesis
(
- Contribution to journal › Article
-
Mark
Genome-wide association study identifies Sjögren's risk loci with functional implications in immune and glandular cells
(
- Contribution to journal › Article
-
Mark
Towards a treatment for mitochondrial disease : current compounds in clinical development
(
- Contribution to journal › Scientific review
-
Mark
Genome-wide identification of the genetic basis of amyotrophic lateral sclerosis
(
- Contribution to journal › Article
-
Mark
Epigenome-wide three-way interaction study identifies a complex pattern between TRIM27, KIAA0226, and smoking associated with overall survival of early-stage NSCLC
(
- Contribution to journal › Article
-
Mark
Highly perturbed genes and hub genes associated with type 2 diabetes in different tissues of adult humans : a bioinformatics analytic workflow
(
- Contribution to journal › Article
-
Mark
hnRNP G/RBMX enhances HPV16 E2 mRNA splicing through a novel splicing enhancer and inhibits production of spliced E7 oncogene mRNAs
(
- Contribution to journal › Article
-
Mark
Signatures of copy number alterations in human cancer
(
- 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
When a Synonymous Variant Is Nonsynonymous
(
- Contribution to journal › Article
-
Mark
Pathogenic mtDNA variants, in particular single large-scale mtDNA deletions, are strongly associated with post-lingual onset sensorineural hearing loss in primary mitochondrial disease
(
- Contribution to journal › Article
-
Mark
DNA methylation profiling improves routine diagnosis of paediatric central nervous system tumours : A prospective population-based study
(
- Contribution to journal › Article
-
Mark
Regulatory networks and 5' partner usage of miRNA host gene fusions in breast cancer
(
- Contribution to journal › Article
-
Mark
Partial Monosomy 21 Mirrors Gene Expression of Trisomy 21 in a Patient-Derived Neuroepithelial Stem Cell Model
(
- Contribution to journal › Article
-
Mark
Four Swedish cases of CSF1R-related leukoencephalopathy : Visualization of clinical phenotypes
(
- Contribution to journal › Article
-
Mark
PrecisionFDA Truth Challenge V2: Calling variants from short and long reads in difficult-to-map regions
(
- Contribution to journal › Article
-
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
-
Mark
N-terminus DUX4-immunohistochemistry is a reliable methodology for the diagnosis of DUX4-fused B-lymphoblastic leukemia/lymphoma (N-terminus DUX4 IHC for DUX4-fused B-ALL)
(
- Contribution to journal › Article
-
Mark
Genome-wide meta-analysis of monoclonal gammopathy of undetermined significance (MGUS) identifies risk loci impacting IRF-6
(
- Contribution to journal › Letter
-
Mark
The diagnostic utility of DNA copy number analysis of core needle biopsies from soft tissue and bone tumors
(
- Contribution to journal › Article
-
Mark
Genetic predisposition for Multiple Myeloma. Identification and functional characterization of risk variants
2022) In Lund University, Faculty of Medicine Doctoral Dissertation Series(
- Thesis › Doctoral thesis (compilation)
-
Mark
EAHP 2020 workshop proceedings, pediatric myeloid neoplasms
(
- Contribution to journal › Scientific review
-
Mark
Multiancestry exome sequencing reveals INHBE mutations associated with favorable fat distribution and protection from diabetes
(
- Contribution to journal › Article
-
Mark
Genome-wide Association and Meta-analysis of Age at Onset in Parkinson Disease: Evidence from the COURAGE-PD Consortium
(
- Contribution to journal › Article
-
Mark
A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids
(
- Contribution to journal › Article
-
Mark
Cross-ancestry genome-wide meta-analysis of 61,047 cases and 947,237 controls identifies new susceptibility loci contributing to lung cancer
(
- Contribution to journal › Article
-
Mark
Rare genetic variants explain missing heritability in smoking
(
- Contribution to journal › Article
-
Mark
Adipose methylome integrative-omic analyses reveal genetic and dietary metabolic health drivers and insulin resistance classifiers
(
- Contribution to journal › Article
-
Mark
The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy
(
- Contribution to journal › Article
-
Mark
Effect Modification between Genes and Environment and Parkinson's Disease Risk
(
- Contribution to journal › Scientific review
-
Mark
Genotype-phenotype correlation in arrhythmogenic right ventricular cardiomyopathy-risk of arrhythmias and heart failure
(
- Contribution to journal › Article
-
Mark
Stroke genetics informs drug discovery and risk prediction across ancestries
(
- Contribution to journal › Article
-
Mark
Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants
(
- Contribution to journal › Article
-
Mark
An annotated high-content fluorescence microscopy dataset with Hoechst 33342-stained nuclei and manually labelled outlines : Dataset record
2022)(
- Other contribution › Miscellaneous
-
Mark
Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis
(
- Contribution to journal › Article
-
Mark
Superficial CD34-Positive Fibroblastic Tumor : A Clinicopathologic, Immunohistochemical, and Molecular Study of 59 Cases
(
- Contribution to journal › Article
-
Mark
Genome-wide meta-analysis and omics integration identifies novel genes associated with diabetic kidney disease
(
- Contribution to journal › Article
-
Mark
Comprehensive genome-wide association study of different forms of hernia identifies more than 80 associated loci
(
- Contribution to journal › Article
-
Mark
Genome-wide association study of REM sleep behavior disorder identifies polygenic risk and brain expression effects
(
- Contribution to journal › Article
-
Mark
Calcium, Its Regulatory Hormones, and Their Causal Role on Blood Pressure : A Two-Sample Mendelian Randomization Study
(
- Contribution to journal › Article
-
Mark
Converting the genomic knowledge base to build protein specific machine learning prediction models; a classification study on thermophilic serine protease
(
- Contribution to journal › Article
-
Mark
Genetic Variants Associated with Neuropeptide Y Autoantibody Levels in Newly Diagnosed Individuals with Type 1 Diabetes
(
- Contribution to journal › Article
-
Mark
Insights on Genetic and Environmental Factors in Parkinson's Disease from a Regional Swedish Case-Control Cohort
(
- Contribution to journal › Article
-
Mark
Methylation and copy number profiling : emerging tools to differentiate osteoblastoma from malignant mimics?
(
- Contribution to journal › Article
-
Mark
Two New Mutations in the CEL Gene Causing Diabetes and Hereditary Pancreatitis : How to Correctly Identify MODY8 Cases
(
- Contribution to journal › Article
-
Mark
Novel or not? Reference alleles, genes, and genomes to unmask the true nature of the ABO*AW.10 allele associated with weak A phenotype
(
- Contribution to journal › Debate/Note/Editorial
-
Mark
Scarf enables a highly memory-efficient analysis of large-scale single-cell genomics data
(
- Contribution to journal › Article
-
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
Amplification of CDK4 and MDM2 : a detailed study of a high-risk neuroblastoma subgroup
(
- Contribution to journal › Article
-
Mark
Extended genetic diagnostics for children with profound sensorineural hearing loss by implementing massive parallel sequencing. Diagnostic outcome, family experience and clinical implementation
(
- Contribution to journal › Article
-
Mark
Pre-operative exercise and pyrexia as modifying factors in malignant hyperthermia (MH)
(
- Contribution to journal › Article
-
Mark
Genetic Landscape of the ACE2 Coronavirus Receptor
(
- Contribution to journal › Article
-
Mark
Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation
(
- Contribution to journal › Article
-
Mark
Genetic loci and prioritization of genes for kidney function decline derived from a meta-analysis of 62 longitudinal genome-wide association studies
(
- Contribution to journal › Article
-
Mark
Applicability of polygenic risk scores in endometriosis clinical presentation
(
- Contribution to journal › Article
-
Mark
Germline Mutations in CIDEB and Protection against Liver Disease
(
- Contribution to journal › Article
-
Mark
Subtype and cell type specific expression of lncRNAs provide insight into breast cancer
(
- Contribution to journal › Article
-
Mark
The Lund Molecular Taxonomy Applied to Non-Muscle-Invasive Urothelial Carcinoma
(
- Contribution to journal › Article
-
Mark
Population-scale analysis of common and rare genetic variation associated with hearing loss in adults
(
- Contribution to journal › Article
-
Mark
Structure and functional mapping of the KRAB-KAP1 repressor complex
(
- Contribution to journal › Article
-
Mark
Individual Genetic Heterogeneity
(
- Contribution to journal › Scientific review
-
Mark
A saturated map of common genetic variants associated with human height
(
- Contribution to journal › Article
-
Mark
Rare coding variants in 35 genes associate with circulating lipid levels—A multi-ancestry analysis of 170,000 exomes
(
- Contribution to journal › Article
-
Mark
Iam hiQ-a novel pair of accuracy indices for imputed genotypes
(
- Contribution to journal › Article
-
Mark
Genetic variation of the blood coagulation regulator tissue factor pathway inhibitor and venous thromboembolism among middle-aged and older adults: A population-based cohort study
(
- Contribution to journal › Letter
-
Mark
Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants
(
- Contribution to journal › Article
-
Mark
Contribution of Common Genetic Variants to Risk of Early-Onset Ischemic Stroke
(
- Contribution to journal › Article
-
Mark
Genetic Predictors of Change in Waist Circumference and Waist-to-Hip Ratio With Lifestyle Intervention : The Trans-NIH Consortium for Genetics of Weight Loss Response to Lifestyle Intervention
(
- Contribution to journal › Article
-
Mark
Thrombotic risk determined by rare and common SERPINA1 variants in a population-based cohort study
(
- Contribution to journal › Article