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- 2024
-
Mark
Weaponized genomics : potential threats to international and human security
(
- Contribution to journal › Letter
-
Mark
Decoding pan-cancer complexity. Multiomic insights from the lung and breast
2024) In Lund University, Faculty of Medicine Doctoral Dissertation Series(
- Thesis › Doctoral thesis (compilation)
-
Mark
Of gains and losses : SAMD9/SAMD9L and monosomy 7 in myelodysplastic syndrome
(
- Contribution to journal › Scientific review
-
Mark
Genetic association of glycemic traits and antihyperglycemic agent target genes with the risk of lung cancer: A Mendelian randomization study
2024) In Diabetes & metabolic syndrome(
- Contribution to journal › Article
-
Mark
MDM2 amplification in rod-shaped chromosomes provides clues to early stages of circularized gene amplification in liposarcoma
(
- Contribution to journal › Article
-
Mark
Editorial : Celebration of DNA Day
(
- Contribution to journal › Debate/Note/Editorial
-
Mark
Phylogenetic analysis of pediatric tumors
2024) In Lund University, Faculty of Medicine Doctoral Dissertation Series(
- Thesis › Doctoral thesis (compilation)
-
Mark
Transcriptome-Wide Association Analysis Identifies Candidate Susceptibility Genes for Prostate-Specific Antigen Levels in Men Without Prostate Cancer
2024) In Human Genetics and Genomics Advances(
- 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
Human Leukocyte Antigen Signatures as Pathophysiological Discriminants of Microscopic Colitis Subtypes
(
- 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
-
Mark
A genome-wide association study of social trust in 33,882 Danish blood donors
(
- Contribution to journal › Article
-
Mark
A genomic mutational constraint map using variation in 76,156 human genomes
(
- 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
-
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
AβPP-tau-HAS1 axis trigger HAS1-related nuclear speckles and gene transcription in Alzheimer's disease
(
- 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
Manifestations of X-linked pyruvate dehydrogenase complex deficiency in female PDHA1 carriers
2024) In European Journal of Neurology(
- 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
Epigenetic Fingerprint of the SARS-CoV-2 Infection in the Lung of Lethal COVID-19
2024) In Chest(
- Contribution to journal › Article
-
Mark
Gene amplification in neoplasia : A cytogenetic survey of 80 131 cases
(
- 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
Clinical and genetic analyses of a Swedish patient series diagnosed with ataxia
(
- Contribution to journal › Article
-
Mark
The annotation of GBA1 has been concealed by its protein-coding pseudogene GBAP1
(
- Contribution to journal › Article
-
Mark
Red-Haired People's Altered Responsiveness to Pain, Analgesics, and Hypnotics : Myth or Fact?-A Narrative Review
(
- Contribution to journal › Scientific review
-
Mark
The Gly82Ser polymorphism in the receptor for advanced glycation endproducts increases the risk for coronary events in the general population
(
- Contribution to journal › Article
-
Mark
Genetic determinants of renal scarring in children with febrile UTI
2024) In Pediatric Nephrology(
- Contribution to journal › Article
-
Mark
Deciphering the genetics and mechanisms of predisposition to multiple myeloma
(
- 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
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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
Heritability of Atrial Fibrillation Among Swedish Adoptees
(
- Contribution to journal › Letter
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Mark
The fifth international hackathon for developing computational cloud-based tools and resources for pan-structural variation and genomics
(
- Contribution to journal › Article
-
Mark
Precision Diagnostics in Myeloid Malignancies : Development and Validation of a National Capture-Based Gene Panel
(
- Contribution to journal › Article
-
Mark
TLE3 Is a Novel Fusion Partner of JAK2 in Myeloid/Lymphoid Neoplasm With Eosinophilia Responding to JAK2 Inhibition
(
- Contribution to journal › Article
-
Mark
Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits
(
- Contribution to journal › Article
-
Mark
Integrative multi-omics analyses to identify the genetic and functional mechanisms underlying ovarian cancer risk regions
(
- Contribution to journal › Article
-
Mark
Variability of polygenic prediction for body mass index in Africa
(
- Contribution to journal › Article
-
Mark
SMIM1 absence is associated with reduced energy expenditure and excess weight
2024) In Med (New York, N.Y.)(
- Contribution to journal › Article
-
Mark
An intronic polymorphism associated with 2,3-bisphosphoglycerate levels in human red cells is linked to expression of RhCE blood groups
2024) In Proceedings of the National Academy of Sciences of the United States of America 121(36). p.1-2(
- Contribution to journal › Letter
-
Mark
Epigenetic dissection of human blood group genes reveals regulatory elements and detailed characteristics of KEL and four other loci
(
- 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
-
Mark
Genome-wide discovery for biomarkers using quantile regression at biobank scale
(
- Contribution to journal › Article
-
Mark
Coagulation abnormalities and vascular complications are common in PGM1-CDG
(
- Contribution to journal › Article
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Mark
DNA methylation governs the sensitivity of repeats to restriction by the HUSH-MORC2 corepressor
(
- Contribution to journal › Article
-
Mark
Haplotype analysis identifies functional elements in monoclonal gammopathy of unknown significance
(
- Contribution to journal › Article
-
Mark
Genetic counselling legislation and practice in cancer in EU Member States
(
- Contribution to journal › Article
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Mark
Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort
(
- Contribution to journal › Article
-
Mark
Understanding the genetic complexity of puberty timing across the allele frequency spectrum
(
- Contribution to journal › Article
-
Mark
Pregnancy Planning and Genetic Testing: Exploring Advantages, and Challenges
(
- Contribution to journal › Scientific review
-
Mark
KnockoffHybrid : A knockoff framework for hybrid analysis of trio and population designs in genome-wide association studies
(
- Contribution to journal › Article
- 2023
-
Mark
Causal analysis of plasma IL-8 on carotid intima media thickness, a measure of subclinical atherosclerosis
(
- 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
Clonal origin and development of high hyperdiploidy in childhood acute lymphoblastic leukaemia
(
- 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 › Article
-
Mark
Characterization of the Mitochondrial Genetic Landscape in Abdominal Aortic Aneurysm
(
- 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
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
Rare-variant collapsing analyses of arterial hypertension in the UK biobank
(
- Contribution to journal › Letter
-
Mark
Reduced binding of apoE4 to complement factor H promotes amyloid-β oligomerization and neuroinflammation
(
- Contribution to journal › Article
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Mark
The DUF3715 domain has a conserved role in RNA-directed transposon silencing
(
- 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
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
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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
HNF1B variant without hyperglycaemia as a cause of isolated profound hypomagnesaemia
(
- 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
-
Mark
[18F]RO948 tau positron emission tomography in genetic and sporadic frontotemporal dementia syndromes
(
- 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
A phenome-wide comparative analysis of genetic discordance between obesity and type 2 diabetes
(
- 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
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
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
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
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
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 › Article
-
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 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
The Prognostic Effect of IKZF1 Deletions in ETV6:: RUNX1 and High Hyperdiploid Childhood Acute Lymphoblastic Leukemia
(
- Contribution to journal › Article
-
Mark
Deficiency of the Heterogeneous Nuclear Ribonucleoprotein U locus leads to delayed hindbrain neurogenesis
(
- 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
Epigenetics and Obesity
(
- Chapter in Book/Report/Conference proceeding › Book chapter
-
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
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
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
Multimorbidity can run in families - What are implications for clinical practice?
2023) In BMJ(
- Contribution to journal › Debate/Note/Editorial
-
Mark
Mitochondrial heteroplasmic shifts reveal a positive selection of breast cancer
(
- 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
Identifying actionable druggable targets for breast cancer : Mendelian randomization and population-based analyses
(
- 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
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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
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
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
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Mark
GPR162 is a beta cell CART receptor
(
- Contribution to journal › Article
-
Mark
A novel scatterplot-based method to detect copy number variation (CNV)
(
- 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
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
- 2022
-
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
PrecisionFDA Truth Challenge V2: Calling variants from short and long reads in difficult-to-map regions
(
- Contribution to journal › Article
-
Mark
Methylation and copy number profiling : emerging tools to differentiate osteoblastoma from malignant mimics?
(
- 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
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
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
A cis-acting structural variation at the ZNF558 locus controls a gene regulatory network in human brain development
(
- 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
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
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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
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
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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
Genomic editing of metformin efficacy-associated genetic variants in SLC47A1 does not alter SLC47A1 expression
(
- Contribution to journal › Article
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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
Genetic Predisposition to Sporadic and Familial Multiple Myeloma
2022) In Lund University, Faculty of Medicine Doctoral Dissertation Series(
- Thesis › Doctoral thesis (compilation)
-
Mark
RIC3 variants are not associated with Parkinson's disease in large European, Latin American, or East Asian cohorts
(
- 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
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
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
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
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Mark
The use of polygenic risk scores in pre-implantation genetic testing : an unproven, unethical practice
(
- Contribution to journal › Article
-
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 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
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
Calcium, Its Regulatory Hormones, and Their Causal Role on Blood Pressure : A Two-Sample Mendelian Randomization Study
(
- 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
Complement component C4 structural variation and quantitative traits contribute to sex-biased vulnerability in systemic sclerosis
(
- 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
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
Structure and functional mapping of the KRAB-KAP1 repressor complex
(
- 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
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
-
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
Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants
(
- 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
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Mark
Superficial CD34-Positive Fibroblastic Tumor : A Clinicopathologic, Immunohistochemical, and Molecular Study of 59 Cases
(
- Contribution to journal › Article
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Mark
An annotated high-content fluorescence microscopy dataset with Hoechst 33342-stained nuclei and manually labelled outlines : Dataset record
2022)(
- Other contribution › Miscellaneous
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Mark
When a Synonymous Variant Is Nonsynonymous
(
- Contribution to journal › Article
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Mark
Adipose methylome integrative-omic analyses reveal genetic and dietary metabolic health drivers and insulin resistance classifiers
(
- Contribution to journal › Article
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Mark
The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy
(
- Contribution to journal › Article
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Mark
Effect Modification between Genes and Environment and Parkinson's Disease Risk
(
- Contribution to journal › Scientific review
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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
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Mark
Pre-operative exercise and pyrexia as modifying factors in malignant hyperthermia (MH)
(
- Contribution to journal › Article
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Mark
Genotype-phenotype correlation in arrhythmogenic right ventricular cardiomyopathy-risk of arrhythmias and heart failure
(
- Contribution to journal › Article
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Mark
Genome-wide meta-analysis and omics integration identifies novel genes associated with diabetic kidney disease
(
- Contribution to journal › Article
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Mark
Germline Mutations in CIDEB and Protection against Liver Disease
(
- Contribution to journal › Article
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Mark
Subtype and cell type specific expression of lncRNAs provide insight into breast cancer
(
- Contribution to journal › Article
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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
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Mark
DNA methylation profiling improves routine diagnosis of paediatric central nervous system tumours : A prospective population-based study
(
- Contribution to journal › Article
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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
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Mark
Genome-wide identification of the genetic basis of amyotrophic lateral sclerosis
(
- Contribution to journal › Article
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Mark
Thrombotic risk determined by rare and common SERPINA1 variants in a population-based cohort study
(
- Contribution to journal › Article
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Mark
Dynamic epigenetic age mosaicism in the human atherosclerotic artery
(
- Contribution to journal › Article
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Mark
Genome Editing Using Cas9-gRNA Ribonucleoprotein in Human Pluripotent Stem Cells for Disease Modeling
(
- Chapter in Book/Report/Conference proceeding › Book chapter
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Mark
Differential and shared genetic effects on kidney function between diabetic and non-diabetic individuals
(
- Contribution to journal › Article
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Mark
Breast cancer risks associated with missense variants in breast cancer susceptibility genes
(
- Contribution to journal › Article
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Mark
Applicability of polygenic risk scores in endometriosis clinical presentation
(
- Contribution to journal › Article
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Mark
Mendelian randomization supports bidirectional causality between telomere length and clonal hematopoiesis of indeterminate potential
(
- Contribution to journal › Article
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Mark
Genome-wide interaction analysis of menopausal hormone therapy use and breast cancer risk among 62,370 women
(
- Contribution to journal › Article
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Mark
Genetic Landscape of the ACE2 Coronavirus Receptor
(
- Contribution to journal › Article
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Mark
Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation
(
- Contribution to journal › Article
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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
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Mark
Multiancestry exome sequencing reveals INHBE mutations associated with favorable fat distribution and protection from diabetes
(
- Contribution to journal › Article
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Mark
Genome-wide Association and Meta-analysis of Age at Onset in Parkinson Disease: Evidence from the COURAGE-PD Consortium
(
- Contribution to journal › Article
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Mark
A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids
(
- Contribution to journal › Article
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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
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Mark
Rare genetic variants explain missing heritability in smoking
(
- Contribution to journal › Article
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Mark
Regulatory networks and 5' partner usage of miRNA host gene fusions in breast cancer
(
- Contribution to journal › Article
- 2021
-
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
Validation of prostate cancer risk variants rs10993994 and rs7098889 by CRISPR/Cas9 mediated genome editing
(
- Contribution to journal › Article
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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
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
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
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
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
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
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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
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
Morbidity, risk of cancer and mortality in 3645 HFE mutations 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
-
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
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
-
Mark
DNA repair gene polymorphisms and chromosomal aberrations in healthy, nonsmoking population
(
- Contribution to journal › Article
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Mark
Genetic analysis of obstructive sleep apnoea discovers a strong association with cardiometabolic health
(
- Contribution to journal › Article
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Mark
PON-Sol2 : Prediction of effects of variants on protein solubility
(
- Contribution to journal › Article
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Mark
Computational Inference, Validation, and Analysis of 5’UTR-Leader Sequences of Alleles of Immunoglobulin Heavy Chain Variable Genes
(
- Contribution to journal › Article
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Mark
Search for AL amyloidosis risk factors using Mendelian randomization
(
- 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
Gene-environment interactions and metal toxicity
2021) p.349-368(
- Chapter in Book/Report/Conference proceeding › Book chapter
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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
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
The Copenhagen founder variant GP1BA c.58T>G is the most frequent cause of inherited thrombocytopenia in Denmark
(
- Contribution to journal › Article