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- 2024
-
Mark
Weaponized genomics : potential threats to international and human security
(
- Contribution to journal › Letter
-
Mark
Exonic trinucleotide repeat expansions in ZFHX3 cause spinocerebellar ataxia type 4 : A poly-glycine disease
(
- Contribution to journal › Article
-
Mark
Gene amplification in neoplasia : A cytogenetic survey of 80 131 cases
(
- Contribution to journal › Article
-
Mark
Clinical and genetic analyses of a Swedish patient series diagnosed with ataxia
(
- Contribution to journal › Article
-
Mark
A genome-wide association study of social trust in 33,882 Danish blood donors
(
- Contribution to journal › Article
-
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
-
Mark
A genomic mutational constraint map using variation in 76,156 human genomes
(
- Contribution to journal › Article
-
Mark
Epigenetic Fingerprint of the SARS-CoV-2 Infection in the Lung of Lethal COVID-19
2024) In Chest(
- Contribution to journal › Article
-
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
-
Mark
Human Leukocyte Antigen Signatures as Pathophysiological Discriminants of Microscopic Colitis Subtypes
(
- Contribution to journal › Article
-
Mark
Decoding Genetic Enigmas in Sarcoma
2024) In Lund University, Faculty of Medicine Doctoral Dissertation Series(
- Thesis › Doctoral thesis (compilation)
-
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
-
Mark
The MSC-EV-microRNAome : A Perspective on Therapeutic Mechanisms of Action in Sepsis and ARDS
(
- Contribution to journal › Scientific review
-
Mark
Osteosarcomas With Few Chromosomal Alterations or Adult Onset Are Genetically Heterogeneous
(
- Contribution to journal › Article
-
Mark
Genetic and phenotypic discordance in cardiometabolic diseases
2024) In Lund University, Faculty of Medicine Doctoral Dissertation Series(
- Thesis › Doctoral thesis (compilation)
-
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
-
Mark
AβPP-tau-HAS1 axis trigger HAS1-related nuclear speckles and gene transcription in Alzheimer's disease
(
- Contribution to journal › Article
-
Mark
Epigenetic dissection of human blood group genes reveals regulatory elements and detailed characteristics of KEL and four other loci
2024) In Transfusion(
- Contribution to journal › Article
-
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
The HLA region in ANCA-associated vasculitis : characterisation of genetic associations in a Scandinavian patient population
(
- Contribution to journal › Article
-
Mark
CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods
(
- Contribution to journal › Article
-
Mark
Genomic alterations in ovarian endometriosis and subsequently diagnosed ovarian carcinoma
(
- Contribution to journal › Article
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Mark
Manifestations of X-linked pyruvate dehydrogenase complex deficiency in female PDHA1 carriers
2024) In European Journal of Neurology(
- Contribution to journal › Article
-
Mark
Phylogenetic analysis of pediatric tumors
2024) In Lund University, Faculty of Medicine Doctoral Dissertation Series(
- Thesis › Doctoral thesis (compilation)
- 2023
-
Mark
BRCA1 frameshift variants leading to extended incorrect protein C termini
(
- Contribution to journal › Article
-
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
Genetic modification of inflammation- and clonal hematopoiesis-associated cardiovascular risk
(
- 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
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
Causality assessment of circulating Vitamin D level on venous thromboembolism : A Mendelian randomization study
(
- Contribution to journal › Article
-
Mark
Fast and sensitive validation of fusion transcripts in whole-genome sequencing data
(
- 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
Do GWAS-Identified Risk Variants for Chronic Lymphocytic Leukemia Influence Overall Patient Survival and Disease Progression?
(
- Contribution to journal › Article
-
Mark
The Prognostic Effect of IKZF1 Deletions in ETV6:: RUNX1 and High Hyperdiploid Childhood Acute Lymphoblastic Leukemia
(
- Contribution to journal › Article
-
Mark
Epigenome-wide association study of serum folate in maternal peripheral blood leukocytes
(
- Contribution to journal › Article
-
Mark
Proteogenomic mapping sets stage for precision medicine
(
- Contribution to journal › Debate/Note/Editorial
-
Mark
Reduced binding of apoE4 to complement factor H promotes amyloid-β oligomerization and neuroinflammation
(
- Contribution to journal › Article
-
Mark
Evaluation of genetic demultiplexing of single-cell sequencing data from model species
(
- 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 › Letter
-
Mark
Rare-variant collapsing analyses of arterial hypertension in the UK biobank
(
- Contribution to journal › Letter
-
Mark
The DUF3715 domain has a conserved role in RNA-directed transposon silencing
(
- Contribution to journal › Article
-
Mark
Characterization of the Mitochondrial Genetic Landscape in Abdominal Aortic Aneurysm
(
- Contribution to journal › Article
-
Mark
Clonal origin and development of high hyperdiploidy in childhood acute lymphoblastic leukaemia
(
- 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
Circulating triglycerides are associated with human adipose tissue DNA methylation of genes linked to metabolic disease
(
- Contribution to journal › Article
-
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
-
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
A novel scatterplot-based method to detect copy number variation (CNV)
(
- 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
-
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
-
Mark
Co-occurrence of CLCN2-related leukoencephalopathy and SPG56
(
- Contribution to journal › Article
-
Mark
Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry
(
- Contribution to journal › Article
-
Mark
The Swedish COG6-CDG experience and a comprehensive literature review
(
- 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
Type 2 diabetes candidate genes, including PAX5, cause impaired insulin secretion in human pancreatic islets
(
- Contribution to journal › Article
-
Mark
Liver saturated fat content associates with hepatic DNA methylation in obese individuals
(
- Contribution to journal › Article
-
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
-
Mark
A phenome-wide comparative analysis of genetic discordance between obesity and type 2 diabetes
(
- Contribution to journal › Article
-
Mark
HNF1B variant without hyperglycaemia as a cause of isolated profound hypomagnesaemia
(
- 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
-
Mark
[18F]RO948 tau positron emission tomography in genetic and sporadic frontotemporal dementia syndromes
(
- 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
The genetic regulation of protein expression in cerebrospinal fluid
(
- 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
Causal analysis of plasma IL-8 on carotid intima media thickness, a measure of subclinical atherosclerosis
(
- Contribution to journal › Article
-
Mark
Bone mineral density loci specific to the skull portray potential pleiotropic effects on craniosynostosis
(
- 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
A practical approach to curate clonal hematopoiesis of indeterminate potential in human genetic data sets
(
- 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
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
Identifying actionable druggable targets for breast cancer : Mendelian randomization and population-based analyses
(
- Contribution to journal › Article
-
Mark
Mitochondrial heteroplasmic shifts reveal a positive selection of breast cancer
(
- Contribution to journal › Article
-
Mark
Aberrant activation of TCL1A promotes stem cell expansion in clonal haematopoiesis
(
- 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
-
Mark
Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk
(
- 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
-
Mark
The molecular genetic landscape of human brain size variation
(
- Contribution to journal › Article
-
Mark
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis
(
- Contribution to journal › Article
-
Mark
Multimorbidity can run in families - What are implications for clinical practice?
2023) In BMJ(
- Contribution to journal › Debate/Note/Editorial
-
Mark
Epigenetics and Obesity
(
- Chapter in Book/Report/Conference proceeding › Book chapter
-
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
GPR162 is a beta cell CART receptor
(
- Contribution to journal › Article
-
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
Deficiency of the Heterogeneous Nuclear Ribonucleoprotein U locus leads to delayed hindbrain neurogenesis
(
- 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
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
Giemsa-negative chromosome bands preferentially recombine in cancer-associated translocations and gene fusions
(
- Contribution to journal › Article
- 2022
-
Mark
Genomic editing of metformin efficacy-associated genetic variants in SLC47A1 does not alter SLC47A1 expression
(
- 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
Regulatory networks and 5' partner usage of miRNA host gene fusions in breast cancer
(
- 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
A cis-acting structural variation at the ZNF558 locus controls a gene regulatory network in human brain development
(
- Contribution to journal › Article
-
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
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
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
The diagnostic utility of DNA copy number analysis of core needle biopsies from soft tissue and bone tumors
(
- Contribution to journal › Article
-
Mark
Methylation and copy number profiling : emerging tools to differentiate osteoblastoma from malignant mimics?
(
- 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
PrecisionFDA Truth Challenge V2: Calling variants from short and long reads in difficult-to-map regions
(
- Contribution to journal › Article
-
Mark
Dynamic epigenetic age mosaicism in the human atherosclerotic artery
(
- Contribution to journal › Article
-
Mark
Genome Editing Using Cas9-gRNA Ribonucleoprotein in Human Pluripotent Stem Cells for Disease Modeling
(
- Chapter in Book/Report/Conference proceeding › Book chapter
-
Mark
Comprehensive genome-wide association study of different forms of hernia identifies more than 80 associated loci
(
- 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
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
When a Synonymous Variant Is Nonsynonymous
(
- Contribution to journal › Article
-
Mark
Genotype-phenotype correlation in arrhythmogenic right ventricular cardiomyopathy-risk of arrhythmias and heart failure
(
- Contribution to journal › Article
-
Mark
Evaluation of the VISAGE basic tool for appearance and ancestry inference using ForenSeq® chemistry on the MiSeq FGx® system
(
- Contribution to journal › Article
-
Mark
A saturated map of common genetic variants associated with human height
(
- Contribution to journal › Article
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Mark
Stroke genetics informs drug discovery and risk prediction across ancestries
(
- 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
Calcium, Its Regulatory Hormones, and Their Causal Role on Blood Pressure : A Two-Sample Mendelian Randomization Study
(
- Contribution to journal › Article
-
Mark
Superficial CD34-Positive Fibroblastic Tumor : A Clinicopathologic, Immunohistochemical, and Molecular Study of 59 Cases
(
- 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
Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis
(
- Contribution to journal › Article
-
Mark
The use of polygenic risk scores in pre-implantation genetic testing : an unproven, unethical practice
(
- 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
Thrombotic risk determined by rare and common SERPINA1 variants in a population-based cohort study
(
- 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
Applicability of polygenic risk scores in endometriosis clinical presentation
(
- 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
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
Mendelian randomization supports bidirectional causality between telomere length and clonal hematopoiesis of indeterminate potential
(
- Contribution to journal › Article
-
Mark
Genome-wide interaction analysis of menopausal hormone therapy use and breast cancer risk among 62,370 women
(
- Contribution to journal › Article
-
Mark
Differential and shared genetic effects on kidney function between diabetic and non-diabetic individuals
(
- Contribution to journal › Article
-
Mark
Breast cancer risks associated with missense variants in breast cancer susceptibility genes
(
- 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
A BALB/c IGHV Reference Set, Defined by Haplotype Analysis of Long-Read VDJ-C Sequences From F1 (BALB/c x C57BL/6) Mice
(
- Contribution to journal › Article
-
Mark
Pre-operative exercise and pyrexia as modifying factors in malignant hyperthermia (MH)
(
- 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
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
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
Genome-wide meta-analysis and omics integration identifies novel genes associated with diabetic kidney disease
(
- 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
Return of genomic results does not motivate intent to participate in research for all : Perspectives across 22 countries
(
- 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
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
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
Epigenetics of type 2 diabetes mellitus and weight change — a tool for precision medicine?
(
- Contribution to journal › Scientific review
-
Mark
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants : Application of a points-based ACMG/AMP approach
(
- 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
Structure and functional mapping of the KRAB-KAP1 repressor complex
(
- 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
Editorial : Gene therapy 2.0: Biotechnology for circuit engineering and complex therapeutic approaches
(
- Contribution to journal › Debate/Note/Editorial
-
Mark
Genome-wide interaction analysis identified low-frequency variants with sex disparity in lung cancer risk
(
- Contribution to journal › Article
-
Mark
Genome-wide association analyses of physical activity and sedentary behavior provide insights into underlying mechanisms and roles in disease prevention
(
- 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
Individual Genetic Heterogeneity
(
- Contribution to journal › Scientific review
-
Mark
Interaction between blood pressure and genetic risk score for bladder cancer, and risk of urothelial carcinoma in men
(
- 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
Complement component C4 structural variation and quantitative traits contribute to sex-biased vulnerability in systemic sclerosis
(
- Contribution to journal › Article
-
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
Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants
(
- Contribution to journal › Article
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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
- 2021
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Mark
Molecular pathways in patients with systemic lupus erythematosus revealed by gene-centred DNA sequencing
(
- Contribution to journal › Article
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Mark
Opportunistic genomic screening. Recommendations of the European Society of Human Genetics
(
- Contribution to journal › Article
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Mark
Validation of prostate cancer risk variants rs10993994 and rs7098889 by CRISPR/Cas9 mediated genome editing
(
- Contribution to journal › Article
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Mark
Highly impaired platelet ultrastructure in two families with novel IKZF5 variants
(
- Contribution to journal › Article
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Mark
A gene expression-based single sample predictor of lung adenocarcinoma molecular subtype and prognosis
(
- Contribution to journal › Article
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Mark
Genetic basis of lacunar stroke : a pooled analysis of individual patient data and genome-wide association studies
(
- Contribution to journal › Article
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Mark
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy
(
- Contribution to journal › Article
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Mark
Diagnostic approach to paediatric movement disorders : a clinical practice guide
(
- Contribution to journal › Article
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Mark
Complete Genome Sequence of an Antimicrobial-Producing Bacillus velezensis Sam8H1 Isolate from the Makgadikgadi Saltpans of Botswana
(
- Contribution to journal › Article
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Mark
MET Expression and Cancer Stem Cell Networks Impact Outcome in High-Grade Serous Ovarian Cancer
(
- Contribution to journal › Article
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Mark
DNA Repair Gene Polymorphisms and Chromosomal Aberrations in Exposed Populations
(
- Contribution to journal › Article
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Mark
Differential DNA methylation of the genes for amyloid precursor protein, tau, and neurofilaments in human traumatic brain injury
(
- Contribution to journal › Article
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Mark
Genomic and transcriptomic characterization of desmoplastic small round cell tumors
(
- Contribution to journal › Article
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Mark
Genetically determined NLRP3 inflammasome activation associates with systemic inflammation and cardiovascular mortality
(
- Contribution to journal › Article
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Mark
High-resolution genotyping of HLA class I loci in children with type 1 diabetes and celiac disease
(
- Contribution to journal › Article
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Mark
Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant : Elucidating its Role in Collagen VI-related Myopathies
(
- Contribution to journal › Article
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Mark
Tracing the evolution of aneuploid cancers by multiregional sequencing with CRUST
(
- Contribution to journal › Article
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Mark
PATZ1 fusions define a novel molecularly distinct neuroepithelial tumor entity with a broad histological spectrum
(
- Contribution to journal › Article
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Mark
Genetic insights into biological mechanisms governing human ovarian ageing
(
- Contribution to journal › Article
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Mark
The Copenhagen founder variant GP1BA c.58T>G is the most frequent cause of inherited thrombocytopenia in Denmark
(
- Contribution to journal › Article
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Mark
Translating polygenic risk scores for clinical use by estimating the confidence bounds of risk prediction
(
- Contribution to journal › Article
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Mark
Sequencing of 640,000 exomes identifies GPR75 variants associated with protection from obesity
(
- Contribution to journal › Article
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Mark
Mutational patterns and clonal evolution from diagnosis to relapse in pediatric acute lymphoblastic leukemia
(
- Contribution to journal › Article
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Mark
Variants in BANK1 are associated with lupus nephritis of European ancestry
(
- Contribution to journal › Article
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Mark
Technological readiness and implementation of genomic-driven precision medicine for complex diseases
(
- Contribution to journal › Scientific review
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Mark
Identification of F8 rearrangements in carrier and non-carrier mothers of haemophilia A patients
(
- Contribution to journal › Letter
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Mark
MAP3K6 Mutations in a Neurovascular Disease Causing Stroke, Cognitive Impairment, and Tremor
(
- Contribution to journal › Article
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Mark
Epigenetic changes induced by maternal factors during fetal life : Implication for type 1 diabetes
(
- Contribution to journal › Scientific review
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Mark
The genetics of sudden infant death syndrome—towards a gene reference resource
(
- Contribution to journal › Article
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Mark
Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers : an international cohort study
(
- Contribution to journal › Article
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Mark
Challenges in Clinicogenetic Correlations : One Phenotype – Many Genes
(
- Contribution to journal › Scientific review
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Mark
Multiethnic genome-wide association study of differentiated thyroid cancer in the EPITHYR consortium
(
- Contribution to journal › Article
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Mark
DNA repair gene polymorphisms and chromosomal aberrations in healthy, nonsmoking population
(
- Contribution to journal › Article
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Mark
Novel single nucleotide deletion in ART4 accounts for the Gy(a-) phenotype in a woman of Lebanese origin
(
- Contribution to journal › Article
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Mark
Sister chromatid cohesion defects are associated with chromosomal copy number heterogeneity in high hyperdiploid childhood acute lymphoblastic leukemia
(
- Contribution to journal › Article
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Mark
The Association between Blood-Based Global DNA Methylation and Venous Thromboembolism
(
- Contribution to journal › Article
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Mark
Contributions of de novo variants to systemic lupus erythematosus
(
- Contribution to journal › Article
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Mark
Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability
(
- Contribution to journal › Article
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Mark
Genome-Wide Association Analysis of Pancreatic Beta-Cell Glucose Sensitivity
(
- Contribution to journal › Article
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Mark
Plasma Vitamin C and type 2 diabetes : Genome-wide association study and mendelian randomization analysis in European populations
(
- Contribution to journal › Article
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Mark
Genome-wide meta-analysis of muscle weakness identifies 15 susceptibility loci in older men and women
(
- Contribution to journal › Article
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Mark
Relationship between insulin sensitivity and gene expression in human skeletal muscle
(
- Contribution to journal › Article
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Mark
Tumour gene expression signature in primary melanoma predicts long-term outcomes
(
- Contribution to journal › Article
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Mark
A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers
(
- Contribution to journal › Article
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Mark
Gene therapy for infantile malignant osteopetrosis : review of pre-clinical research and proof-of-concept for phenotypic reversal
(
- Contribution to journal › Scientific review
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Mark
Morbidity, risk of cancer and mortality in 3645 HFE mutations carriers
(
- Contribution to journal › Article
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Mark
Clinical and genomic characterization of patients diagnosed with the provisional entity Acute myeloid leukemia with BCR-ABL1, a Swedish population-based study
(
- Contribution to journal › Article
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Mark
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy
(
- Contribution to journal › Article
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Mark
Droplet digital PCR and mile-post analysis for the detection of F8 int1h inversions
(
- Contribution to journal › Article
-
Mark
Cohort profile : Epigenetics in Pregnancy (EPIPREG) - population-based sample of European and South Asian pregnant women with epigenome-wide DNA methylation (850k) in peripheral blood leukocytes
(
- Contribution to journal › Article
-
Mark
Pan-genomic sequencing reveals actionable cdkn2a/2b deletions and kataegis in anaplastic thyroid carcinoma
(
- Contribution to journal › Article
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Mark
The power of genetic diversity in genome-wide association studies of lipids
(
- Contribution to journal › Article
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Mark
Genetic Predisposition to Mosaic Chromosomal Loss Is Associated with Functional Outcome after Ischemic Stroke
(
- Contribution to journal › Article
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Mark
Common Susceptibility Loci for Male Breast Cancer
(
- Contribution to journal › Article
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Mark
Spatial deconvolution of HER2-positive breast cancer delineates tumor-associated cell type interactions
(
- Contribution to journal › Article
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Mark
Rare, Damaging DNA Variants in CORIN and Risk of Coronary Artery Disease : Insights From Functional Genomics and Large-Scale Sequencing Analyses
(
- Contribution to journal › Article
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Mark
Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease
(
- Contribution to journal › Article
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Mark
HUGO Gene Nomenclature Committee (HGNC) recommendations for the designation of gene fusions
(
- Contribution to journal › Debate/Note/Editorial
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Mark
Gene-environment interactions and metal toxicity
2021) p.349-368(
- Chapter in Book/Report/Conference proceeding › Book chapter
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Mark
Imprinted genes in beta cell function
2021)(
- Contribution to conference › Abstract
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Mark
Association of thyroid function with blood pressure and cardiovascular disease : A mendelian randomization
(
- Contribution to journal › Article
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Mark
Mapping genetic determinants of 184 circulating proteins in 26,494 individuals to connect proteins and diseases
2021)(
- Working paper/Preprint › Preprint in preprint archive
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Mark
Association of lipid-lowering drugs with COVID-19 outcomes from a Mendelian randomization study
(
- Contribution to journal › Article