Area of research
Pathology and Forensic Medicine · Genetics
Research interest
Research focused on Genome-wide association study and Lynch syndrome, with related work in MLH1, Single-nucleotide polymorphism, Colorectal cancer. Notable publications include 'Risk of Cancer in Cases of Suspected Lynch Syndrome Without Germline Mutation', 'Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia', and 'Pharmacogenomics in colorectal cancer: a genome-wide association study to predict toxicity after 5-fluorouracil or FOLFOX administration'.
Developmental epileptic encephalopathy in <i>DLG4</i>‐related synaptopathy
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia
Prevalence of<i>MLH1</i>constitutional epimutations as a cause of Lynch syndrome in unselected versus selected consecutive series of patients with colorectal cancer
Risk of Cancer in Cases of Suspected Lynch Syndrome Without Germline Mutation
A colorectal cancer genome-wide association study in a Spanish cohort identifies two variants associated with colorectal cancer risk at 1p33 and 8p12
A genome-wide association study on copy-number variation identifies a 11q11 loss as a candidate susceptibility variant for colorectal cancer
Pharmacogenomics in colorectal cancer: a genome-wide association study to predict toxicity after 5-fluorouracil or FOLFOX administration
BMP2 / BMP4 colorectal cancer susceptibility loci in northern and southern European populations