This work proved that actionable mitochondrial DNA genetic variants can be genotyped using off-target reads from capture-hybrid technologies. A collaboration with a private company was established to accelerate this research, letting us to access a new and unexplored dataset.
Comprehensive study of all pharmacogenes that could be clinically actionable repurposing whole exome sequencing. We established a collaboration with private company to increase the value of whole exome in the clinics. This work uncovered population pharmacogenomics data from individuals in Spain and South American countries.
This work made use of clinical multi-omics datasets from clinical trials to explore new biomarkers for kidney cancer immunotherapy. This project exemplifies an agile response to emerging pieces of clinical evidence.
As part of my 3-month visit to Reznik's lab at MSKCC, we contributed with the transcriptomics analysis of the Hartwig Medical Foundation cohort.This exemplifies the effort to uncover novel molecular oncology insides from publicly available datasets.
This is a great example of the teamwork between clinicians, experimental researchers and bioinformaticians. I contrbuted with the analysis of gene panel sequencing to uncover that papillary type 2 or unknown histology patients should be screened for FH mutation.
This study let me learn about chRCC genetics, increase my interest on mitochondrial DNA genetics and collaborate in an experimental and clinical environment.
This study let me understand the combination of histology and sequencing technologies to derive into response biomarkers in renal cancer therapy.
A key observation that few extraordinary responses were observed in patients led to detect USP9X mutations to be associated with mTOR inhibition, boosting precision medicine in these patients.
Enhancing my knowledge on the role of angiogenesis in renal cancer and key driver genes associated to drug response.
This study uncovers a miRNA signature linked to prognosis in metastatic pheochromocytoma/paraganglioma and identifies the miR-21-3p/TSC2/mTOR axis as a potential therapeutic target.
This research delineates the genomic alterations and immune profiles characteristic of metastatic pheochromocytoma and paraganglioma.
This article was key to understand better the genetic basis of thyroid cancer.
This clinical trial evaluates the efficacy of combining Sunitinib and Evofosfamide in treatment-naïve patients with metastatic pancreatic neuroendocrine tumors.
This case report identifies a novel germline DNMT3A mutation in a patient presenting with multiple paragangliomas and papillary thyroid carcinoma.
This research associates CD133 expression in medullary thyroid cancer cells with poorer patient outcomes.
This research provides insights into the diagnosis and monitoring of PTEN hamartoma tumor syndrome through a clinical and genetic study of Spanish patients.
This research indicates that DLST mutations in pheochromocytoma and paraganglioma lead to reduced protein succinylation and metabolic changes.