Area of research
Pathology and Forensic Medicine · Neurology
Research interest
Research interests include Genetic factors in colorectal cancer, Neuroblastoma Research and Treatments, Colorectal Cancer Screening and Detection, and Cancer, Hypoxia, and Metabolism.
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement
Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium
Cancer risks by sex and variant type in PTEN hamartoma tumor syndrome
Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort
Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study
Biallelic variants in <i>LIG3</i> cause a novel mitochondrial neurogastrointestinal encephalomyopathy
Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations
KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia
Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3