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- 2022
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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
When a Synonymous Variant Is Nonsynonymous
(
- 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
Structure and functional mapping of the KRAB-KAP1 repressor complex
(
- 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
-
Mark
Individual Genetic Heterogeneity
(
- Contribution to journal › Scientific review
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Mark
Interaction between blood pressure and genetic risk score for bladder cancer, and risk of urothelial carcinoma in men
(
- Contribution to journal › Article
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Mark
Genetic Variants Associated with Neuropeptide Y Autoantibody Levels in Newly Diagnosed Individuals with Type 1 Diabetes
(
- Contribution to journal › Article
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Mark
Complement component C4 structural variation and quantitative traits contribute to sex-biased vulnerability in systemic sclerosis
(
- Contribution to journal › Article
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Mark
Rare coding variants in 35 genes associate with circulating lipid levels—A multi-ancestry analysis of 170,000 exomes
(
- Contribution to journal › Article
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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
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Mark
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants : Application of a points-based ACMG/AMP approach
(
- Contribution to journal › Article
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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
An annotated high-content fluorescence microscopy dataset with Hoechst 33342-stained nuclei and manually labelled outlines : Dataset record
2022)(
- Other contribution › Miscellaneous
- 2021
-
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
-
Mark
Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability
(
- Contribution to journal › Article
-
Mark
Genome-Wide Association Analysis of Pancreatic Beta-Cell Glucose Sensitivity
(
- Contribution to journal › Article
-
Mark
Plasma Vitamin C and type 2 diabetes : Genome-wide association study and mendelian randomization analysis in European populations
(
- Contribution to journal › Article
-
Mark
The Association between Blood-Based Global DNA Methylation and Venous Thromboembolism
(
- Contribution to journal › Article
-
Mark
Contributions of de novo variants to systemic lupus erythematosus
(
- Contribution to journal › Article
-
Mark
Molecular pathways in patients with systemic lupus erythematosus revealed by gene-centred DNA sequencing
(
- Contribution to journal › Article
-
Mark
Opportunistic genomic screening. Recommendations of the European Society of Human Genetics
(
- Contribution to journal › Article
-
Mark
Validation of prostate cancer risk variants rs10993994 and rs7098889 by CRISPR/Cas9 mediated genome editing
(
- Contribution to journal › Article
-
Mark
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy
(
- Contribution to journal › Article
-
Mark
Droplet digital PCR and mile-post analysis for the detection of F8 int1h inversions
(
- Contribution to journal › Article
-
Mark
Highly impaired platelet ultrastructure in two families with novel IKZF5 variants
(
- Contribution to journal › Article
-
Mark
A gene expression-based single sample predictor of lung adenocarcinoma molecular subtype and prognosis
(
- Contribution to journal › Article
-
Mark
The genetics of sudden infant death syndrome—towards a gene reference resource
(
- Contribution to journal › Article
-
Mark
Relationship between insulin sensitivity and gene expression in human skeletal muscle
(
- 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
-
Mark
Genetic insights into biological mechanisms governing human ovarian ageing
(
- Contribution to journal › Article
-
Mark
HUGO Gene Nomenclature Committee (HGNC) recommendations for the designation of gene fusions
(
- Contribution to journal › Debate/Note/Editorial
-
Mark
Spatial deconvolution of HER2-positive breast cancer delineates tumor-associated cell type interactions
(
- 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
Commentary on Population matched (pm) germline allelic variants of immunoglobulin (IG) loci : relevance in infectious diseases and vaccination studies in human populations
(
- Contribution to journal › Letter
-
Mark
Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element
(
- Contribution to journal › Article
-
Mark
Systems biology analysis of human genomes points to key pathways conferring spina bifida risk
(
- Contribution to journal › Article
-
Mark
Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease
(
- Contribution to journal › Article
-
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
-
Mark
Association of lipid-lowering drugs with COVID-19 outcomes from a Mendelian randomization study
(
- Contribution to journal › Article
-
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
Pan-genomic sequencing reveals actionable cdkn2a/2b deletions and kataegis in anaplastic thyroid carcinoma
(
- Contribution to journal › Article
-
Mark
The power of genetic diversity in genome-wide association studies of lipids
(
- Contribution to journal › Article
-
Mark
Genetic Predisposition to Mosaic Chromosomal Loss Is Associated with Functional Outcome after Ischemic Stroke
(
- Contribution to journal › Article
-
Mark
Sequencing of 640,000 exomes identifies GPR75 variants associated with protection from obesity
(
- Contribution to journal › Article
-
Mark
Mutational patterns and clonal evolution from diagnosis to relapse in pediatric acute lymphoblastic leukemia
(
- Contribution to journal › Article
-
Mark
Epigenetic changes induced by maternal factors during fetal life : Implication for type 1 diabetes
(
- Contribution to journal › Scientific review
-
Mark
Variants in BANK1 are associated with lupus nephritis of European ancestry
(
- Contribution to journal › Article
-
Mark
Technological readiness and implementation of genomic-driven precision medicine for complex diseases
(
- Contribution to journal › Scientific review
-
Mark
Identification of F8 rearrangements in carrier and non-carrier mothers of haemophilia A patients
(
- Contribution to journal › Letter
-
Mark
MAP3K6 Mutations in a Neurovascular Disease Causing Stroke, Cognitive Impairment, and Tremor
(
- Contribution to journal › Article
-
Mark
Genome-wide meta-analysis of muscle weakness identifies 15 susceptibility loci in older men and women
(
- Contribution to journal › Article
-
Mark
Morbidity, risk of cancer and mortality in 3645 HFE mutations carriers
(
- Contribution to journal › Article
-
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
-
Mark
Tumour gene expression signature in primary melanoma predicts long-term outcomes
(
- Contribution to journal › Article
-
Mark
A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers
(
- Contribution to journal › Article
-
Mark
Challenges in Clinicogenetic Correlations : One Phenotype – Many Genes
(
- Contribution to journal › Scientific review
-
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
-
Mark
Search for AL amyloidosis risk factors using Mendelian randomization
(
- Contribution to journal › Article
-
Mark
Gene-environment interactions and metal toxicity
2021) p.349-368(
- Chapter in Book/Report/Conference proceeding › Book chapter
-
Mark
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy
(
- Contribution to journal › Article
-
Mark
Diagnostic approach to paediatric movement disorders : a clinical practice guide
(
- Contribution to journal › Article
-
Mark
Genetic basis of lacunar stroke : a pooled analysis of individual patient data and genome-wide association studies
(
- Contribution to journal › Article
-
Mark
Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers : an international cohort study
(
- Contribution to journal › Article
-
Mark
Complete Genome Sequence of an Antimicrobial-Producing Bacillus velezensis Sam8H1 Isolate from the Makgadikgadi Saltpans of Botswana
(
- Contribution to journal › Article
-
Mark
MET Expression and Cancer Stem Cell Networks Impact Outcome in High-Grade Serous Ovarian Cancer
(
- Contribution to journal › Article
-
Mark
DNA Repair Gene Polymorphisms and Chromosomal Aberrations in Exposed Populations
(
- Contribution to journal › Article
-
Mark
Differential DNA methylation of the genes for amyloid precursor protein, tau, and neurofilaments in human traumatic brain injury
(
- Contribution to journal › Article
-
Mark
High-resolution genotyping of HLA class I loci in children with type 1 diabetes and celiac disease
(
- Contribution to journal › Article
-
Mark
Genomic and transcriptomic characterization of desmoplastic small round cell tumors
(
- Contribution to journal › Article
-
Mark
Genetically determined NLRP3 inflammasome activation associates with systemic inflammation and cardiovascular mortality
(
- Contribution to journal › Article
-
Mark
Computational Inference, Validation, and Analysis of 5’UTR-Leader Sequences of Alleles of Immunoglobulin Heavy Chain Variable Genes
(
- Contribution to journal › Article
-
Mark
PON-Sol2 : Prediction of effects of variants on protein solubility
(
- Contribution to journal › Article
-
Mark
Genetic analysis of obstructive sleep apnoea discovers a strong association with cardiometabolic health
(
- Contribution to journal › Article
-
Mark
Common Susceptibility Loci for Male Breast Cancer
(
- Contribution to journal › Article
-
Mark
Association of thyroid function with blood pressure and cardiovascular disease : A mendelian randomization
(
- Contribution to journal › Article
-
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
-
Mark
Tracing the evolution of aneuploid cancers by multiregional sequencing with CRUST
(
- Contribution to journal › Article
-
Mark
PATZ1 fusions define a novel molecularly distinct neuroepithelial tumor entity with a broad histological spectrum
(
- Contribution to journal › Article
-
Mark
The Copenhagen founder variant GP1BA c.58T>G is the most frequent cause of inherited thrombocytopenia in Denmark
(
- Contribution to journal › Article
-
Mark
Translating polygenic risk scores for clinical use by estimating the confidence bounds of risk prediction
(
- Contribution to journal › Article
-
Mark
Evolution: lab-grown ‘mini brains’ suggest one mutation might have rewired the human mind
2021) In The Conversation(
- Contribution to specialist publication or newspaper › Specialist publication article
-
Mark
Germline variants and breast cancer survival in patients with distant metastases at primary breast cancer diagnosis
(
- Contribution to journal › Article
-
Mark
Genetic variants at the RTP4/MASP1 locus are associated with fatigue in Scandinavian patients with primary Sjögren's syndrome
(
- Contribution to journal › Article
-
Mark
Imprinted genes in beta cell function
2021)(
- Contribution to conference › Abstract
- 2020
-
Mark
Meta-analysis of up to 622,409 individuals identifies 40 novel smoking behaviour associated genetic loci
(
- Contribution to journal › Article
-
Mark
Tissue variations of mosaic genome-wide paternal uniparental disomy and phenotype of multi-syndromal congenital hyperinsulinism
(
- Contribution to journal › Article
-
Mark
A spontaneous mitonuclear epistasis converging on Rieske Fe-S protein exacerbates complex III deficiency in mice
(
- Contribution to journal › Article
-
Mark
Two Prevalent ∼100-kb GYPB Deletions Causative of the GPB-Deficient Blood Group MNS Phenotype S-s-U-in Black Africans
(
- Contribution to journal › Article
-
Mark
Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes
(
- Contribution to journal › Article
-
Mark
Genetic predisposition for multiple myeloma
(
- Contribution to journal › Scientific review
-
Mark
Generation of an induced pluripotent stem cell line (CSC-32) from a patient with Parkinson's disease carrying a heterozygous variation p.A53T in the SNCA gene
(
- Contribution to journal › Article
-
Mark
Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome
(
- Contribution to journal › Article
-
Mark
Frequent false-negative FIP1L1-PDGFRA FISH analyses of bone marrow samples from clonal eosinophilia at diagnosis
(
- Contribution to journal › Letter
-
Mark
Tumor genetic heterogeneity analysis of chronic sun-damaged melanoma
(
- Contribution to journal › Article