Nathalie Van der Aa
University of Antwerp(BE)VIB-UAntwerp Center for Molecular Neurology(BE)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Congenital heart defects research, RNA modifications and cancer
Most-Cited Works
- → A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP(2014)370 cited
- → Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome(2009)370 cited
- → Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome(2009)218 cited
- → Clinical and molecular delineation of the 17q21.31 microdeletion syndrome(2008)217 cited
- → Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders(2020)209 cited
- → The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant(2015)185 cited