Geert Vandeweyer’s research focuses on the intersection of bioinformatics and clinical genetics, with a particular emphasis on neurodevelopmental disorders. His early work established foundational insights into balanced translocations in mental retardation, which has received 70 citations. Publicly indexed outputs suggest a strong interest in the molecular mechanisms of autism, notably through his first-author study on how the transcriptional regulator ADNP links BAF complexes with autism. This work, cited 83 times, characterizes the syndromic nature of specific genetic mutations. Additionally, Vandeweyer has developed critical computational infrastructure for genomic medicine, including VariantDB, a flexible annotation and filtering portal for next-generation sequencing data, and the CNV-WebStore for interpreting structural variations. Beyond his primary focus on tool development and lead-author studies, Vandeweyer has contributed to large-scale collaborative efforts, such as targeted sequencing to identify neurodevelopmental-disorder risk genes, which has garnered over 570 citations. His middle-author contributions also include high-impact research into the clinical spectrum of 15q13 microdeletion and duplication syndromes. More recently, his work as a senior author has expanded into functional genomics, including CRISPR/Cas9-edited cell lines to study drug sensitivity in lung cancer. These diverse outputs reflect a consistent research arc dedicated to improving the detection, storage, and functional interpretation of complex genomic variations in human disease.