Area of research
Molecular Biology · Cancer Research
Research interest
Research interests include Genomics and Chromatin Dynamics, Epigenetics and DNA Methylation, RNA Research and Splicing, and RNA modifications and cancer.
A non-syndromic orofacial cleft risk locus links tRNA splicing defects to neural crest cell pathologies
Targeted Genomic Sequencing of TSC1 and TSC2 Reveals Causal Variants in Individuals for Whom Previous Genetic Testing for Tuberous Sclerosis Complex Was Normal
P267: TSC1/TSC2 mosaicism is found in ∼13% of individuals with tuberous sclerosis and is associated with a distinctive phenotypic severity
Temozolomide and Radiotherapy versus Radiotherapy Alone in Patients with Glioblastoma, <i>IDH</i> -wildtype: <i>Post Hoc</i> Analysis of the EORTC Randomized Phase III CATNON Trial
NOXA expression drives synthetic lethality to RUNX1 inhibition in pancreatic cancer
PDGFRβ+ cells play a dual role as hematopoietic precursors and niche cells during mouse ontogeny
Prognostic significance of genome-wide DNA methylation profiles within the randomized, phase 3, EORTC CATNON trial on non-1p/19q deleted anaplastic glioma
Endothelial Zeb2 preserves the hepatic angioarchitecture and protects against liver fibrosis
Enhancer-associated H3K4 methylation safeguards in vitro germline competence
NOXA expression drives synthetic lethality to RUNX1 inhibition in pancreatic cancer
Butyrate inhibits human mast cell activation via epigenetic regulation of FcεRI‐mediated signaling
Hemolysis in the spleen drives erythrocyte turnover
Alveolar barrier disruption in varicella pneumonia is associated with neutrophil extracellular trap formation
Enhancer-associated H3K4 methylation safeguards in vitro germline competence
Lewy pathology in Parkinson’s disease consists of crowded organelles and lipid membranes
Distinct IL‐1α‐responsive enhancers promote acute and coordinated changes in chromatin topology in a hierarchical manner
Colony-Stimulating Factor 1 Receptor (CSF1R) Regulates Microglia Density and Distribution, but Not Microglia Differentiation In Vivo
LRP10 genetic variants in familial Parkinson's disease and dementia with Lewy bodies: a genome-wide linkage and sequencing study
Variants in members of the cadherin–catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome
Identification of Variants in RET and IHH Pathway Members in a Large Family With History of Hirschsprung Disease
Investigation of the spatial structure and interactions of the genome at sub-kilobase-pair resolution using T2C
Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes
Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome
Effects of Freeze–Thawing and Intravenous Infusion on Mesenchymal Stromal Cell Gene Expression
Zeb2 Regulates Cell Fate at the Exit from Epiblast State in Mouse Embryonic Stem Cells
Genetic variants in RBFOX3 are associated with sleep latency
The detailed 3D multi-loop aggregate/rosette chromatin architecture and functional dynamic organization of the human and mouse genomes
Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up
The Isl1/Ldb1 Complex Orchestrates Genome-wide Chromatin Organization to Instruct Differentiation of Multipotent Cardiac Progenitors
A New CRB1 Rat Mutation Links Müller Glial Cells to Retinal Telangiectasia