Area of research
Genetics · Pediatrics, Perinatology and Child Health
Research interest
Research interests include Genetics, Medicine, Biology, Breast cancer, Working memory, and Memory span.
New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome
Physical activity during adolescence and young adulthood and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers
Prospective evaluation of body size and breast cancer risk among BRCA1 and BRCA2 mutation carriers
Feasibility of computerized working memory training in individuals with Huntington disease
M15 Computerised cognitive training for individuals with early stage huntington’s disease
Pilot Testing of a Psycho-educational Telephone Intervention for Women Receiving Uninformative BRCA1/2 Genetic Test Results
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants