Area of research
Molecular Biology · Obstetrics and Gynecology
Research interest
Research interests include Epigenetics and DNA Methylation, Uterine Myomas and Treatments, Cancer Genomics and Diagnostics, and Genomics and Phylogenetic Studies.
Mitochondrial damage is associated with an early immune response in inclusion body myositis
An atlas of cells in the human tonsil
ONCOLINER: A new solution for monitoring, improving, and harmonizing somatic variant calling across genomic oncology centers
A global catalog of whole-genome diversity from 233 primate species
The landscape of tolerated genetic variation in humans and primates
Identification of constrained sequence elements across 239 primate genomes
A critical spotlight on the paradigms of FFPE-DNA sequencing
A chromosome-level reference genome for the common octopus, <i>Octopus vulgaris</i> (Cuvier, 1797)
Rare diseases' genetic newborn screening as the gateway to future genomic medicine: the Screen4Care EU-IMI project
Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe
Detection of early seeding of Richter transformation in chronic lymphocytic leukemia
Author Correction: Cancer LncRNA Census reveals evidence for deep functional conservation of long noncoding RNAs in tumorigenesis
Author Correction: Pathway and network analysis of more than 2500 whole cancer genomes
Author Correction: Integrative pathway enrichment analysis of multivariate omics data
Author Correction: Combined burden and functional impact tests for cancer driver discovery using DriverPower
Towards complete and error-free genome assemblies of all vertebrate species
Systemic Inflammation in Preclinical Ulcerative Colitis
Lung microbiome composition and bronchial epithelial gene expression in patients with COPD versus healthy individuals: a bacterial 16S rRNA gene sequencing and host transcriptomic analysis
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita
Solving unsolved rare neurological diseases—a Solve-RD viewpoint
Gender specific airway gene expression in COPD sub-phenotypes supports a role of mitochondria and of different types of leukocytes
Variation in predicted COVID‐19 risk among lemurs and lorises
Correction to: Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint
Benchmarking single-cell RNA-sequencing protocols for cell atlas projects
Integrative pathway enrichment analysis of multivariate omics data
Cancer LncRNA Census reveals evidence for deep functional conservation of long noncoding RNAs in tumorigenesis
LifeTime and improving European healthcare through cell-based interceptive medicine
Pathway and network analysis of more than 2500 whole cancer genomes