Geert Vandeweyer
University of Antwerp(BE)Antwerp University Hospital(BE)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Congenital heart defects research, Autism Spectrum Disorder Research
Most-Cited Works
- → Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases(2017)571 cited
- → 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
- → Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders(2020)209 cited
- → Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains(2017)179 cited
- → Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders(2013)177 cited
- → Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes(2010)165 cited
- → A mutation update on the LDS-associated genesTGFB2/3andSMAD2/3(2018)162 cited
- → Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia(2016)155 cited