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- 2024
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Mark
DDR1/2 enhance KIT activation and imatinib resistance of primary and secondary KIT mutants in gastrointestinal stromal tumors
(
- Contribution to journal › Article
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Mark
Rare-variant collapsing and bioinformatic analyses for different types of cardiac arrhythmias in the UK Biobank reveal novel susceptibility loci and candidate amyloid-forming proteins
(
- Contribution to journal › Article
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Mark
A guide to barley mutants
(
- Contribution to journal › Scientific review
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Mark
Proteomic profiling reveals that ESR1 mutations enhance cyclin-dependent kinase signaling
(
- Contribution to journal › Article
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Mark
A genomic mutational constraint map using variation in 76,156 human genomes
(
- Contribution to journal › Article
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Mark
Consequences of partially recessive deleterious genetic variation for the evolution of inversions suppressing recombination between sex chromosomes
(
- Contribution to journal › Article
- 2023
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Mark
Ivacaftor therapy post myocardial infarction augments systemic inflammation and evokes contrasting effects with respect to tissue inflammation in brain and lung
(
- Contribution to journal › Article
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Mark
Rare-variant collapsing analyses reveal novel risk genes for arterial and venous cardiovascular diseases in the UK biobank
(
- Contribution to journal › Letter
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Mark
Genomic studies of sex differences : On mutations, recombination, and sexual antagonism in songbirds
2023)(
- Thesis › Doctoral thesis (compilation)
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Mark
Dysregulated Lipid Synthesis by Oncogenic IDH1 Mutation Is a Targetable Synthetic Lethal Vulnerability
(
- Contribution to journal › Article
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Mark
The Swedish childhood tumor biobank : systematic collection and molecular characterization of all pediatric CNS and other solid tumors in Sweden
(
- Contribution to journal › Article
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Mark
Systematic errors in annotations of truncations, loss-of-function and synonymous variants
(
- Contribution to journal › Article
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Mark
The role of fibrinolysis in vascular diseases in UK biobank
(
- Contribution to journal › Letter
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Mark
A Receptor Tyrosine Kinase Inhibitor Sensitivity Prediction Model Identifies AXL Dependency in Leukemia
(
- Contribution to journal › Article
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Mark
Contribution of rare and common coding variants to haematological malignancies in the UK biobank
(
- Contribution to journal › Article
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Mark
VariBench, new variation benchmark categories and data sets
(
- Contribution to journal › Article
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Mark
Novel Genetic and Phenotypic Expansion in GOSR2-Related Progressive Myoclonus Epilepsy
(
- Contribution to journal › Article
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Mark
Aberrant activation of TCL1A promotes stem cell expansion in clonal haematopoiesis
(
- Contribution to journal › Article
- 2022
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Mark
When a Synonymous Variant Is Nonsynonymous
(
- Contribution to journal › Article
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Mark
PON-All : Amino Acid Substitution Tolerance Predictor for All Organisms
(
- Contribution to journal › Article
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Mark
Von Willebrand factor propeptide and pathophysiological mechanisms in European and Iranian patients with type 3 von Willebrand disease enrolled in the 3WINTERS-IPS study
(
- Contribution to journal › Article
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Mark
Retrotransposon instability dominates the acquired mutation landscape of mouse induced pluripotent stem cells
(
- Contribution to journal › Article
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Mark
Patient-associated mutations in Drosophila Alk perturb neuronal differentiation and promote survival
(
- Contribution to journal › Article
- 2021
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Mark
Evaluating the Effects of SARS-CoV-2 Spike Mutation D614G on Transmissibility and Pathogenicity
(
- Contribution to journal › Article
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Mark
Preexisting Somatic Mutations of Estrogen Receptor Alpha (ESR1) in Early-Stage Primary Breast Cancer
(
- Contribution to journal › Article
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Mark
Functional effects of protein variants
(
- Contribution to journal › Article
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Mark
RNA Sequencing for Molecular Diagnostics in Breast Cancer
2021) In Lund University, Faculty of Medicine Doctoral Dissertation Series(
- Thesis › Doctoral thesis (compilation)
-
Mark
PON-Sol2 : Prediction of effects of variants on protein solubility
(
- Contribution to journal › Article
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Mark
The Human Melanoma Proteome Atlas-Complementing the melanoma transcriptome
(
- 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
-
Mark
Hematologically important mutations : The autosomal forms of chronic granulomatous disease (third update)
(
- Contribution to journal › Article
-
Mark
Protein tyrosine phosphatase receptor type E (PTPRE) regulates the activation of wild-type KIT and KIT mutants differently
(
- Contribution to journal › Article
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Mark
DGAT-onco : A differential analysis method to detect oncogenes by integrating functional information of mutations
2021) 2021 IEEE International Conference on Bioinformatics and Biomedicine, BIBM 2021 In Proceedings - 2021 IEEE International Conference on Bioinformatics and Biomedicine, BIBM 2021 p.793-796(
- Chapter in Book/Report/Conference proceeding › Paper in conference proceeding
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Mark
The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant
(
- Contribution to journal › Article
- 2020
-
Mark
Protein-altering germline mutations implicate novel genes related to lung cancer development
(
- Contribution to journal › Article
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Mark
Whole-Exome Sequencing in 22 Young Ischemic Stroke Patients With Familial Clustering of Stroke
(
- Contribution to journal › Article
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Mark
Molecular changes during progression from nonmuscle invasive to advanced urothelial carcinoma
(
- Contribution to journal › Article
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Mark
The mutational landscape of the SCAN‐B real‐world primary breast cancer transcriptome
(
- Contribution to journal › Article
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Mark
Comprehensive molecular characterization of mitochondrial genomes in human cancers
(
- Contribution to journal › Article
-
Mark
Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing
(
- Contribution to journal › Article
-
Mark
The landscape of viral associations in human cancers
(
- Contribution to journal › Article
-
Mark
Presynaptic dysfunction in CASK-related neurodevelopmental disorders
(
- Contribution to journal › Article
-
Mark
SSD1 modifies phenotypes of Elongator mutants
(
- Contribution to journal › Scientific review
-
Mark
Genomic footprints of activated telomere maintenance mechanisms in cancer
(
- Contribution to journal › Article
-
Mark
Combined burden and functional impact tests for cancer driver discovery using DriverPower
(
- Contribution to journal › Article
-
Mark
Divergent mutational processes distinguish hypoxic and normoxic tumours
(
- Contribution to journal › Article
-
Mark
Reconstructing evolutionary trajectories of mutation signature activities in cancer using TrackSig
(
- Contribution to journal › Article
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Mark
Integrative pathway enrichment analysis of multivariate omics data
(
- Contribution to journal › Article
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Mark
A deep learning system accurately classifies primary and metastatic cancers using passenger mutation patterns
(
- Contribution to journal › Article
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Mark
Pathway and network analysis of more than 2500 whole cancer genomes
(
- Contribution to journal › Article
- 2019
-
Mark
Challenging the heterogeneity of disease presentation in malignant melanoma—impact on patient treatment
(
- Contribution to journal › Article
-
Mark
Sub-lethal concentrations of heavy metals induce antibiotic resistance via mutagenesis
(
- Contribution to journal › Article
-
Mark
Patterns of hepatitis B virus S gene escape mutants and reverse transcriptase mutations among genotype D isolates in Jordan
(
- Contribution to journal › Article
-
Mark
Benchmarking subcellular localization and variant tolerance predictors on membrane proteins
(
- Contribution to journal › Article
-
Mark
Dissecting the Effects of Selection and Mutation on Genetic Diversity in Three Wood White (Leptidea) Butterfly Species
(
- Contribution to journal › Article
-
Mark
Mutations in the mitochondrial tryptophanyl-tRNA synthetase cause growth retardation and progressive leukoencephalopathy
(
- Contribution to journal › Article
- 2018
-
Mark
Representativeness of variation benchmark datasets
(
- Contribution to journal › Article
-
Mark
Pon-tstab : Protein variant stability predictor. importance of training data quality
(
- Contribution to journal › Article
-
Mark
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations
(
- Contribution to journal › Article
-
Mark
Genetic Variation in the Syntaxin-Binding Protein STXBP5 in Type 1 von Willebrand Disease Patients
(
- Contribution to journal › Article
-
Mark
Analysis of C3 gene variants in patients with idiopathic recurrent spontaneous pregnancy loss
(
- Contribution to journal › Article
-
Mark
Risk Stratification of Type 2 Long-QT Syndrome Mutation Carriers with Normal QTc Interval : The Value of Sex, T-Wave Morphology, and Mutation Type
(
- Contribution to journal › Article
-
Mark
Systematics for types and effects of DNA variations
(
- Contribution to journal › Scientific review
-
Mark
Identification of factors that promote biogenesis of tRNACGASer
(
- Contribution to journal › Article
- 2017
-
Mark
Strategies to design clinical studies to identify predictive biomarkers in cancer research
(
- Contribution to journal › Scientific review
-
Mark
PBB3 Imaging in Parkinsonian disorders: Evidence for binding to abnormally aggregated proteins in addition to tau proteins
2017) 21st International Congress of Parkinson's Disease and Movement Disorders In Movement Disorders 32(Suppl 2). p.585-587(
- Contribution to journal › Published meeting abstract
-
Mark
BCAT1 restricts αKG levels in AML stem cells leading to IDHmut-like DNA hypermethylation
(
- Contribution to journal › Article
-
Mark
Novel APC gene mutations associated with protein alteration in diffuse type gastric cancer
(
- Contribution to journal › Article
- 2016
-
Mark
Mitochondrial DNA triplication and punctual mutations in patients with mitochondrial neuromuscular disorders
(
- Contribution to journal › Article
-
Mark
Association of Exome Sequences with Cardiovascular Traits among Blacks in the Jackson Heart Study
(
- Contribution to journal › Article
-
Mark
Establishment of an international database for genetic variants in esophageal cancer
(
- Contribution to journal › Article
-
Mark
Landscape of somatic mutations in 560 breast cancer whole-genome sequences
(
- Contribution to journal › Article
-
Mark
Antiretroviral resistance at virological failure in the NEAT 001/ANRS 143 trial: Raltegravir plus darunavir/ritonavir or tenofovir/emtricitabine plus darunavir/ritonavir as first-line ART
(
- Contribution to journal › Article
-
Mark
MLH1 Ile219Val polymorphism in argentinean families with suspected lynch syndrome
(
- Contribution to journal › Article
-
Mark
18F-AV1451 pet detects tau pathology in mapt mutation carriers and correlates strongly with immunohistochemistry of tau aggregates
2016) Alzheimer’s Association International Conference 2016 In Alzheimer's and Dementia 12(7 Suppl). p.723-724(
- Contribution to journal › Published meeting abstract
-
Mark
Pedigree based DNA sequencing pipeline for germline genomes of cancer families
(
- Contribution to journal › Article
-
Mark
High hyperdiploid childhood acute lymphoblastic leukemia : Chromosomal gains as the main driver event
(
- Contribution to journal › Article
- 2015
-
Mark
Genetic risk factors for inhibitors in haemophilia A
(
- Contribution to journal › Scientific review
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Mark
One-stage vs. chromogenic assays in haemophilia A
(
- Contribution to journal › Scientific review
-
Mark
Characterization of All Possible Single-Nucleotide Change Caused Amino Acid Substitutions in the Kinase Domain of Bruton Tyrosine Kinase
(
- Contribution to journal › Article
-
Mark
Identification of six new susceptibility loci for invasive epithelial ovarian cancer
(
- Contribution to journal › Article
-
Mark
Exome sequencing of contralateral breast cancer identifies metastatic disease
(
- Contribution to journal › Article
-
Mark
Identification of a novel DNase of Streptococcus suis (EndAsuis) important for neutrophil extracellular trap degradation during exponential growth
(
- Contribution to journal › Article
-
Mark
A mutation in caspase-9 decreases the expression of BAFFR and ICOS in patients with immunodeficiency and lymphoproliferation
(
- Contribution to journal › Article
-
Mark
Loss of Drosophila Vps16A enhances autophagosome formation through reduced Tor activity
(
- Contribution to journal › Article
-
Mark
Serum biomarkers of early stages of hypertrophic cardiomyopathy in a young population
(
- Contribution to journal › Published meeting abstract
- 2014
-
Mark
Associations of anthropometric factors with KRAS and BRAF mutation status of primary colorectal cancer in men and women : a cohort study
(
- Contribution to journal › Article
-
Mark
Novel Association of Neurofibromatosis Type 1-Causing Mutations in Families With Neurofibromatosis-Noonan Syndrome
(
- Contribution to journal › Article
-
Mark
The Ycf54 protein is part of the membrane component of Mg-protoporphyrin IX monomethyl ester cyclase from barley (Hordeum vulgare L.)
(
- Contribution to journal › Article
-
Mark
The interaction between uPAR and vitronectin triggers ligand-independent adhesion signalling by integrins
(
- Contribution to journal › Article
-
Mark
Mutant huntingtin is present in neuronal grafts in Huntington disease patients
(
- Contribution to journal › Article
-
Mark
Comprehensive genetic characterization of pediatric T-cell acute lymphoblastic leukemia
(
- Contribution to journal › Published meeting abstract
-
Mark
The mitochondrial protein import component, TRANSLOCASE OF THE INNER MEMBRANE17-1, plays a role in defining the timing of germination in Arabidopsis
(
- Contribution to journal › Article
-
Mark
The mitochondrial outer membrane AAA ATPase AtOM66 affects cell death and pathogen resistance in Arabidopsis thaliana
(
- Contribution to journal › Article
-
Mark
Interaction of the HOPS complex with Syntaxin 17 mediates autophagosome clearance in Drosophila
(
- Contribution to journal › Article
-
Mark
Different effects of Atg2 and Atg18 mutations on Atg8a and Atg9 trafficking during starvation in Drosophila
(
- Contribution to journal › Article
-
Mark
Triggering necroptosis in cisplatin and IAP antagonist-resistant ovarian carcinoma
(
- Contribution to journal › Article
-
Mark
Neuroacanthocytosis - Clinical variability (a report on six cases)
2014) Eighteenth International Congress of Parkinson's Disease and Movement Disorders In Movement Disorders 29(Suppl 1). p.194-194(
- Contribution to journal › Published meeting abstract
-
Mark
CDKN2A-mutation hos en familie med arveligt malignt melanom
(
- Contribution to journal › Article
-
Mark
The 'extremely ancient' chromosome that isn't : a forensic bioinformatic investigation of Albert Perry's X-degenerate portion of the Y chromosome
(
- Contribution to journal › Article