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- 2020
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Mark
Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome
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- Contribution to journal › Article
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Mark
Genome-wide study on uveal melanoma patients finds association to DNA repair gene TDP1
(
- Contribution to journal › Article
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Association Analysis of Driver Gene-Related Genetic Variants Identified Novel Lung Cancer Susceptibility Loci with 20,871 Lung Cancer Cases and 15,971 Controls
2020) In Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 29(7). p.1423-1429(
- Contribution to journal › Article
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Mark
Discovery of 318 new risk loci for type 2 diabetes and related vascular outcomes among 1.4 million participants in a multi-ancestry meta-analysis
(
- Contribution to journal › Article
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Genetic signature of prostate cancer mouse models resistant to optimized hK2 targeted α-particle therapy
2020) In Proceedings of the National Academy of Sciences of the United States of America 117(26). p.15172-15181(
- Contribution to journal › Article
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Mark
Prostate cancer risk SNP rs10993994 is a trans-eQTL for SNHG11 mediated through MSMB
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- Contribution to journal › Article
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Development of a polygenic risk score to improve screening for fracture risk : A genetic risk prediction study
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- Contribution to journal › Article
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Blood-based epigenetic estimators of chronological age in human adults using DNA methylation data from the Illumina MethylationEPIC array
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- Contribution to journal › Article
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A new efficient method to detect genetic interactions for lung cancer GWAS
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- Contribution to journal › Article
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Genetic profiling of Vietnamese population from large-scale genomic analysis of non-invasive prenatal testing data
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- Contribution to journal › Article
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Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk
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- Contribution to journal › Article
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Global Public Perceptions of Genomic Data Sharing : What Shapes the Willingness to Donate DNA and Health Data?
(
- Contribution to journal › Article
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A novel function for CDK2 activity at meiotic crossover sites
(
- Contribution to journal › Article
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Genomic and Transcriptomic Analyses of Osteogenic Tumours of Bone
2020) In Lund University, Faculty of Medicine Doctoral Dissertation Series(
- Thesis › Doctoral thesis (compilation)
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Mark
CRISPR-terapi visar potential – möjligheter och utmaningar
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- Contribution to journal › Article
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Mark
Public support for healthcare-mediated disclosure of hereditary cancer risk information : Results from a population-based survey in Sweden
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- Contribution to journal › Article
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Mark
Genomic and drug target evaluation of 90 cardiovascular proteins in 30,931 individuals
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- Contribution to journal › Article
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Diagnostic potential of circulating cell-free nuclear and mitochondrial DNA for several cancer types and nonmalignant diseases : A study on suspected cancer patients
(
- Contribution to journal › Article
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Distribution of HLA-DQ risk genotypes for celiac disease in Ethiopian children
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- Contribution to journal › Article
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MuscleAtlasExplorer : a web service for studying gene expression in human skeletal muscle
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- Contribution to journal › Article
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Genetic Predisposition to Coronary Artery Disease in Type 2 Diabetes Mellitus
(
- Contribution to journal › Article
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Sex differences in oncogenic mutational processes
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- Contribution to journal › Article
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Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples
(
- Contribution to journal › Article
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The Rare IL22RA2 Signal Peptide Coding Variant rs28385692 Decreases Secretion of IL-22BP Isoform-1, -2 and -3 and Is Associated with Risk for Multiple Sclerosis
(
- Contribution to journal › Article
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Mark
Familial associations for rheumatoid autoimmune diseases
(
- Contribution to journal › Article
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Familial associations for Addison’s disease and between Addison’s disease and other autoimmune diseases
(
- Contribution to journal › Article
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Mark
A high-stringency blueprint of the human proteome
(
- Contribution to journal › Scientific review
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Mark
Epigenetic changes in islets of langerhans preceding the onset of diabetes
(
- Contribution to journal › Article
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Mark
Robustness and lethality in multilayer biological molecular networks
(
- Contribution to journal › Article
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Genetic predisposition to hypertension is associated with preeclampsia in European and Central Asian women
(
- Contribution to journal › Article
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Transparency, consent and trust in the use of customers' data by an online genetic testing company : an Exploratory survey among 23andMe users
(
- Contribution to journal › Article
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Members of the public in the USA, UK, Canada and Australia expressing genetic exceptionalism say they are more willing to donate genomic data
(
- Contribution to journal › Article
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Targeting OGG1 arrests cancer cell proliferation by inducing replication stress
2020) In Nucleic Acids Research(
- Contribution to journal › Article
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Mark
Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals
(
- Contribution to journal › Article
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Mark
Rare Variant Burden Analysis within Enhancers Identifies CAV1 as an ALS Risk Gene
(
- Contribution to journal › Article
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Genetically Predicted Levels of DNA Methylation Biomarkers and Breast Cancer Risk : Data From 228 951 Women of European Descent
(
- Contribution to journal › Article
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Mark
Blood pressure and bladder cancer risk in men by use of survival analysis and in interaction with NAT2 genotype, and by Mendelian randomization analysis
(
- Contribution to journal › Article
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Mark
Transcriptome profiling revealed early vascular smooth muscle cell gene activation following focal ischemic stroke in female rats – comparisons with males
(
- Contribution to journal › Article
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Mark
Loci associated with genomic damage levels in chronic kidney disease patients and controls
(
- Contribution to journal › Article
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Mark
De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability
(
- Contribution to journal › Article
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Mark
Global RNA expression and DNA methylation patterns in primary anaplastic thyroid cancer
(
- Contribution to journal › Article
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Mark
Loss of NF2 defines a genetic subgroup of non-FOS-rearranged osteoblastoma
(
- Contribution to journal › Article
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Mark
The association between Single Nucleotide Polymorphisms of Klotho Gene and Mortality in Elderly Men : The MrOS Sweden Study
(
- Contribution to journal › Article
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Severe retinitis pigmentosa phenotype associated with novel CNGB1 variants
(
- Contribution to journal › Article
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Mark
Search for multiple myeloma risk factors using Mendelian randomization
(
- Contribution to journal › Article
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Mark
Genomic arrays identify high-risk chronic lymphocytic leukemia with genomic complexity : A multi-center study
(
- Contribution to journal › Article
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Mark
The effect of LRRK2 loss-of-function variants in humans
(
- Contribution to journal › Article
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Mark
Genome-wide association meta-analysis of single-nucleotide polymorphisms and symptomatic venous thromboembolism during therapy for acute lymphoblastic leukemia and lymphoma in caucasian children
(
- Contribution to journal › Article
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Mark
Identify New Genetic Variants on Chromosome 6 Associated with Mortality after Heart Transplantation
2020) In The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation 39(4). p.473-473(
- Contribution to journal › Published meeting abstract
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Mark
Epigenetic regulation of insulin action and secretion – role in the pathogenesis of type 2 diabetes
(
- Contribution to journal › Scientific review
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Mark
Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk
(
- Contribution to journal › Article
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Mark
Evaluating drug targets through human loss-of-function genetic variation
(
- Contribution to journal › Article
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Mark
Transcript expression-aware annotation improves rare variant interpretation
(
- Contribution to journal › Article
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Mark
A structural variation reference for medical and population genetics
(
- Contribution to journal › Article
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Mark
The mutational constraint spectrum quantified from variation in 141,456 humans
(
- Contribution to journal › Article
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Mark
Generation of gene-corrected functional osteoclasts from osteopetrotic induced pluripotent stem cells
(
- Contribution to journal › Article
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Mark
Parental origin of monosomic chromosomes in near-haploid acute lymphoblastic leukemia
(
- Contribution to journal › Letter
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The Xg blood group system : no longer forgotten
(
- Contribution to journal › Letter
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Mark
May the FORS be with you : a system sequel
(
- Contribution to journal › Scientific review
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Association between the rs1544410 polymorphism in the vitamin D receptor (VDR) gene and insulin secretion after gestational diabetes mellitus
(
- Contribution to journal › Article
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Mark
Protein-altering germline mutations implicate novel genes related to lung cancer development
(
- Contribution to journal › Article
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Mark
Increased burden of ultra-rare structural variants localizing to boundaries of topologically associated domains in schizophrenia
(
- Contribution to journal › Article
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New generation genetic testing entering the clinic
(
- Contribution to journal › Article
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Transcriptome-wide association study of breast cancer risk by estrogen-receptor status.
(
- Contribution to journal › Article
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Mark
BMD-Related Genetic Risk Scores Predict Site-Specific Fractures as Well as Trabecular and Cortical Bone Microstructure
(
- Contribution to journal › Article
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Mark
13q12.2 deletions in acute lymphoblastic leukemia lead to upregulation of FLT3 through enhancer hijacking
(
- Contribution to journal › Article
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Mark
Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome
(
- Contribution to journal › Article
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Mark
Impact of genetic polymorphisms in kinetochore and spindle assembly genes on chromosomal aberration frequency in healthy humans
(
- Contribution to journal › Article
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Mark
Association of Established Blood Pressure Loci With 10-Year Change in Blood Pressure and Their Ability to Predict Incident Hypertension
(
- Contribution to journal › Article
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Mark
Effect of rare coding variants in the CFI gene on Factor I expression levels
(
- Contribution to journal › Article
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Mark
Methylation patterns and chromatin accessibility in neuroendocrine lung cancer
(
- Contribution to journal › Article
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Subclonal patterns in follow-up of acute myeloid leukemia combining whole exome sequencing and ultrasensitive IBSAFE digital droplet analysis
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- Contribution to journal › Article
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Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction
(
- Contribution to journal › Article
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Mark
Identification of APTX disease-causing mutation in two unrelated Jordanian families with cerebellar ataxia and sensitivity to DNA damaging agents
(
- Contribution to journal › Article
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A seventeenth-century Mycobacterium tuberculosis genome supports a Neolithic emergence of the Mycobacterium tuberculosis complex
(
- Contribution to journal › Article
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Comprehensive molecular comparison of BRCA1 hypermethylated and BRCA1 mutated triple negative breast cancers
(
- Contribution to journal › Article
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Genomic imprinting analyses identify maternal effects as a cause of phenotypic variability in type 1 diabetes and rheumatoid arthritis
(
- Contribution to journal › Article
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Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions
(
- Contribution to journal › Article
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Mark
Familial risks between Graves disease and Hashimoto thyroiditis and other autoimmune diseases in the population of Sweden
(
- Contribution to journal › Article
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Mark
Mendelian randomization implies no direct causal association between leukocyte telomere length and amyotrophic lateral sclerosis
(
- Contribution to journal › Article
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Mark
Transcriptome sequencing identifies a noncoding, deep intronic variant in CLCN7 causing autosomal recessive osteopetrosis
(
- Contribution to journal › Article
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Mark
Genomic footprints of activated telomere maintenance mechanisms in cancer
(
- Contribution to journal › Article
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Combined burden and functional impact tests for cancer driver discovery using DriverPower
(
- Contribution to journal › Article
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Mark
Divergent mutational processes distinguish hypoxic and normoxic tumours
(
- Contribution to journal › Article
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High-coverage whole-genome analysis of 1220 cancers reveals hundreds of genes deregulated by rearrangement-mediated cis-regulatory alterations
(
- Contribution to journal › Article
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Mark
Reconstructing evolutionary trajectories of mutation signature activities in cancer using TrackSig
(
- Contribution to journal › Article
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Mark
Inferring structural variant cancer cell fraction
(
- Contribution to journal › Article
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Integrative pathway enrichment analysis of multivariate omics data
(
- Contribution to journal › Article
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Mark
Pathway and network analysis of more than 2500 whole cancer genomes
(
- Contribution to journal › Article
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Mark
Cancer LncRNA Census reveals evidence for deep functional conservation of long noncoding RNAs in tumorigenesis
(
- Contribution to journal › Article
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Genomic basis for RNA alterations in cancer
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- Contribution to journal › Article
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Analyses of non-coding somatic drivers in 2,658 cancer whole genomes
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- Contribution to journal › Article
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The evolutionary history of 2,658 cancers
(
- Contribution to journal › Article
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Patterns of somatic structural variation in human cancer genomes
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- Contribution to journal › Article
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Mark
The repertoire of mutational signatures in human cancer
(
- Contribution to journal › Article
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Mark
Comprehensive molecular characterization of mitochondrial genomes in human cancers
(
- Contribution to journal › Article
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Mark
Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition
(
- Contribution to journal › Article
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Mark
Disruption of chromatin folding domains by somatic genomic rearrangements in human cancer
(
- Contribution to journal › Article
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Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing
(
- Contribution to journal › Article
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The landscape of viral associations in human cancers
(
- Contribution to journal › Article