Carla Daniela Robles‐Espinoza

The paper investigates the differential contributions of MUTYH and PALB2 germline variants to colorectal polyposis and breast cancer using mutational signatures in a single patient.

This study identifies HOXD13 as a driver of a developmental program in melanoma that promotes angiogenesis and suppresses T-cell infiltration through a gene regulatory axis involving VEGFA, SEMA3A, and CD73.

The paper develops a genomic framework to identify genes predisposing to homologous recombination repair deficient breast cancer by integrating mutational signatures, exome data, and clinical-genomic analysis.

SiteCELL enables on-site purification and cryopreservation of PBMCs for immune single cell profiling, performing as well as Ficoll density gradient in both lab and rural settings.

This study identifies immunological differences in ulcerated acral melanoma, showing increased humoral immunity and inflammation markers, and proposes potential therapeutic targets.

The paper analyzes variant classification disparities between European-like and non-European-like genetic ancestries and shows that MAVE data can reduce these disparities in VUS reclassification.

This study analyzes acral melanoma genomes and transcriptomes from Mexican patients, finding ancestry-related mutation patterns and survival differences.

The paper introduces WARP, a variant ranking pipeline for familial complex disorders, which identifies potential disease-predisposing genes in pedigrees by combining multiple weighted factors.

The paper analyzes POT1 variants in a melanoma case-control cohort, finding that pathogenic variants are a minor contributor to melanoma risk but should be screened in high-risk individuals.

VCF/Plotein is a web application that enables secure and interactive viewing and filtering of exome sequencing data for researchers and medical professionals.

This paper describes a method to identify drug resistance mutations in cancer using genome-wide chemical mutagenesis and next-generation sequencing, enabling the discovery of both known and novel resistance mechanisms.