Area of research
Oncology · Molecular Biology
Research interest
Research interests include Cutaneous Melanoma Detection and Management, Melanoma and MAPK Pathways, melanin and skin pigmentation, and Cancer Genomics and Diagnostics.
Germline ATM variants predispose to melanoma: a joint analysis across the GenoMEL and MelaNostrum consortia
Birth cohort-specific trends of sun-related behaviors among individuals from an international consortium of melanoma-prone families
Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility
MC1R variants and cutaneous melanoma risk according to histological type, body site, and Breslow thickness: a pooled analysis from the M-SKIP project
MC1R variants in childhood and adolescent melanoma: a retrospective pooled analysis of a multicentre cohort
Publisher Correction: Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways
Comprehensive Study of the Clinical Phenotype of Germline<i>BAP1</i>Variant-Carrying Families Worldwide
Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways
Efficacy of novel immunotherapy regimens in patients with metastatic melanoma with germline <i>CDKN2A</i> mutations
Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways
The genetics of uveal melanoma: current insights
Germline<i>CDKN2A</i>Mutation Status and Survival in Familial Melanoma Cases
Association of Melanocortin-1 Receptor Variants with Pigmentary Traits in Humans: A Pooled Analysis from the M-Skip Project
Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma
Abstract A38: Role of MC1R variants in childhood and adolescent melanoma
High risk of tobacco-related cancers in <i>CDKN2A</i> mutation-positive melanoma families
Inherited variation in the PARP1 gene and survival from melanoma
A variant in FTO shows association with melanoma risk not due to BMI
KIT, NRAS, BRAF and PTEN mutations in a sample of Swedish patients with acral lentiginous melanoma
Hereditary uveal melanoma: A report of a germline mutation in <i>BAP1</i>
An inherited variant in the gene coding for vitamin <scp>D</scp>‐binding protein and survival from cutaneous melanoma: a <scp>B</scp>io<scp>G</scp>eno<scp>MEL</scp> study
Inherited variants in the <i>MC1R</i> gene and survival from cutaneous melanoma: a BioGenoMEL study