MD
Publications
- Identifying DNase I hypersensitive sites as driver distal regulatory elements in breast cancer
- In heart failure reactivation of RNA-binding proteins is associated with the expression of 1,523 fetal-specific isoforms
- Fine mapping spatiotemporal mechanisms of genetic variants underlying cardiac traits and disease
- Biased estimates of clonal evolution and subclonal heterogeneity can arise from PCR duplicates in deep sequencing experiments.
- Regulatory variants active in iPSC-derived pancreatic progenitor cells are associated with Type 2 Diabetes in adults
- Subtle changes in chromatin loop contact propensity are associated with differential gene regulation and expression
- NCG 4.0: the network of cancer genes in the era of massive mutational screenings of cancer genomes.
- Integrated analysis of recurrent properties of cancer genes to identify novel drivers
- Network of Cancer Genes (NCG 3.0): Integration and analysis of genetic and network properties of cancer genes
- Modification of gene duplicability during the evolution of protein interaction network
- Extraction, integration and analysis of alternative splicing and protein structure distributed information
- Cellular deconvolution of GTEx tissues powers discovery of disease and cell-type associated regulatory variants
- Improving the predictive power of polygenic risk scores for cardiovascular disease: leveraging genetics, environmental factors and local ancestry within genome-wide association studies
- eQTL mapping in fetal-like pancreatic progenitor cells reveals early developmental insights into diabetes risk
- Longitudinal assessment of tumor development using cancer avatars derived from genetically engineered pluripotent stem cells
- Author Correction: Longitudinal assessment of tumor development using cancer avatars derived from genetically engineered pluripotent stem cells
- Discovery and quality analysis of a comprehensive set of structural variants and short tandem repeats
- Properties of structural variants and short tandem repeats associated with gene expression and complex traits
- Author Correction: Cellular deconvolution of GTEx tissues powers discovery of disease and cell-type associated regulatory variants
- Fine mapping spatiotemporal mechanisms of genetic variants underlying cardiac traits and disease
- Author Correction: Fine mapping spatiotemporal mechanisms of genetic variants underlying cardiac traits and disease
- Network Of Cancer Genes: A web resource to analyze duplicability, orthology and network properties of cancer genes
- Recessive cancer genes engage in negative genetic interactions with their functional paralogs
- EVOLUTION OF PROTEIN INTERACTION NETWORKS THROUGH GENE DUPLICATION
- Kataegis Expression Signature in Breast Cancer Is Associated with Late Onset, Better Prognosis, and Higher HER2 Levels
- PTEN regulates glioblastoma oncogenesis through chromatin-associated complexes of DAXX and histone H3.3.
- iPSCORE: A Resource of 222 iPSC Lines Enabling Functional Characterization of Genetic Variation across a Variety of Cell Types.
- High-Throughput and Cost-Effective Characterization of Induced Pluripotent Stem Cells.
- Large-Scale Profiling Reveals the Influence of Genetic Variation on Gene Expression in Human Induced Pluripotent Stem Cells.
- Insights into the mutational burden of human induced pluripotent stem cells using an integrative omics approach
- In-depth genetic analysis of 6p21.3 reveals insights into associations between HLA types and complex traits and disease
- Discovery and Quality Analysis of a Comprehensive Set of Structural Variants and Short Tandem Repeats
- Systematic genetic analysis of the MHC region reveals mechanistic underpinnings of HLA type associations with disease
- Identification of rare and common regulatory variants in pluripotent cells using population-scale transcriptomics
- In heart failure reactivation of RNA-binding proteins drives the transcriptome into a fetal state
- Insights into genetic factors contributing to variability in SARS-CoV-2 susceptibility and COVID-19 disease severity
- Enhancer release and retargeting activates disease-susceptibility genes
- Genetic analysis of elevated levels of creatinine and cystatin C biomarkers reveals novel genetic loci associated with kidney function.