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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
A genomic mutational constraint map using variation in 76,156 human genomes
(
- 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
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
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
A Receptor Tyrosine Kinase Inhibitor Sensitivity Prediction Model Identifies AXL Dependency in Leukemia
(
- Contribution to journal › Article
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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
Contribution of rare and common coding variants to haematological malignancies in the UK biobank
(
- 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 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
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
Novel Genetic and Phenotypic Expansion in GOSR2-Related Progressive Myoclonus Epilepsy
(
- 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
The role of fibrinolysis in vascular diseases in UK biobank
(
- Contribution to journal › Letter
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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
Patient-associated mutations in Drosophila Alk perturb neuronal differentiation and promote survival
(
- 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
- 2021
-
Mark
RNA Sequencing for Molecular Diagnostics in Breast Cancer
2021) In Lund University, Faculty of Medicine Doctoral Dissertation Series(
- Thesis › Doctoral thesis (compilation)
-
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
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
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
Functional effects of protein variants
(
- Contribution to journal › Article
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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
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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
Hematologically important mutations : The autosomal forms of chronic granulomatous disease (third update)
(
- Contribution to journal › Article
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Mark
Protein tyrosine phosphatase receptor type E (PTPRE) regulates the activation of wild-type KIT and KIT mutants differently
(
- Contribution to journal › Article
- 2020
-
Mark
Molecular changes during progression from nonmuscle invasive to advanced urothelial carcinoma
(
- 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
The mutational landscape of the SCAN‐B real‐world primary breast cancer transcriptome
(
- 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
Presynaptic dysfunction in CASK-related neurodevelopmental disorders
(
- 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
Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing
(
- Contribution to journal › Article
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Mark
The landscape of viral associations in human cancers
(
- 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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Mark
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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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
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Mark
SSD1 modifies phenotypes of Elongator mutants
(
- Contribution to journal › Scientific review